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How to write a medical case report

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• Seema Biswas , editor-in-chief, BMJ Case Reports, London, UK ,
• Oliver Jones , student editor, BMJ Case Reports, London, UK

Two BMJ Case Reports journal editors take you through the process

This article contains...

- Choosing the right patient

- Choosing the right message

- Before you begin - patient consent

- How to write your case report

- How to get published

During medical school, students often come across patients with a unique presentation, an unfamiliar response to treatment, or even an obscure disease. Writing a case report is an excellent way of documenting these findings for the wider medical community—sharing new knowledge that will lead to better and safer patient care.

For many medical students and junior doctors, a case report may be their first attempt at medical writing. A published case report will look impressive on your curriculum vitae, particularly if it is on a topic of your chosen specialty. Publication will be an advantage when applying for foundation year posts and specialty training, and many job applications have points allocated exclusively for publications in peer reviewed journals, including case reports.

The writing of a case report rests on skills that medical students acquire in their medical training, which they use throughout their postgraduate careers: these include history taking, interpretation of clinical signs and symptoms, interpretation of laboratory and imaging results, researching disease aetiology, reviewing medical evidence, and writing in a manner that clearly and effectively communicates with the reader.

If you are considering writing a case report, try to find a senior doctor who can be a supervising coauthor and help you decide whether you have a message worth writing about, that you have chosen the correct journal to submit to (considering the format that the journal requires), that the process is transparent and ethical at all times, and that your patient is not compromised in your writing. Indeed, try to include your patient in the process from the …

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• Published: 30 January 2023

A student guide to writing a case report

• Maeve McAllister 1  

BDJ Student volume  30 ,  pages 12–13 ( 2023 ) Cite this article

As a student, it can be hard to know where to start when reading or writing a clinical case report either for university or out of special interest in a Journal. I have collated five top tips for writing an insightful and relevant case report.

A case report is a structured report of the clinical process of a patient's diagnostic pathway, including symptoms, signs, diagnosis, treatment planning (short and long term), clinical outcomes and follow-up. 1 Some of these case reports can sometimes have simple titles, to the more unusual, for example, 'Oral Tuberculosis', 'The escapee wisdom tooth', 'A difficult diagnosis'. They normally begin with the word 'Sir' and follow an introduction from this.

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Guidelines To Writing a Clinical Case Report. Heart Views 2017; 18 , 104-105.

British Dental Journal. Case reports. Available online at: www.nature.com/bdj/articles?searchType=journalSearch&sort=PubDate&type=case-report&page=2 (accessed August 17, 2022).

Chate R, Chate C. Achenbach's syndrome. Br Dent J 2021; 231: 147.

Abdulgani A, Muhamad, A-H and Watted N. Dental case report for publication; step by step. J Dent Med Sci 2014; 3 : 94-100.

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Maeve McAllister

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McAllister, M. A student guide to writing a case report. BDJ Student 30 , 12–13 (2023). https://doi.org/10.1038/s41406-023-0925-y

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How to Write Your First Clinical Case Report

What Is a Clinical Case Report?

Clinical case reports are instructional documents written by clinicians, often with assistance from medical writers who are experienced in writing scientific publications. Clinical case reports, which are published in medical journals, present a detailed description of an interesting or unusual patient case.    These documents are a way to spread new observations and knowledge throughout the medical community, whether to experienced medical practitioners, students, or other health care professionals.

Throughout their years of work, medical practitioners come across a variety of puzzling or complex illnesses, side effects, and patient cases. Whenever an unusual or noteworthy case occurs, there’s an opportunity for the case to help teach other medical professionals about the physician’s observations, diagnosis, and treatment plan. A written report of the patient case and resulting treatment and outcome is called a clinical case report.  

How Should I Structure a Clinical Case Report?

Fortunately, writing a clinical case report is not a guessing game. The CARE guidelines (for CAse REports) were last published in the Journal of Clinical Epidemiology in 2017. These guidelines, which were developed by an international group of experts, were first laid out in 2013. These guidelines were designed to support consistency, accuracy, and the potential for peer review and publication in medical journals. 

The CARE guidelines are an invaluable resource for new and veteran medical writers. The CARE checklist for clinical case reports outlines 13 document sections to include in a clinical case report.  Medical writers interested in crafting a clinical case report should download and print the entire checklist. It’s a helpful tool to keep handy at your desk.

Keep in mind that every medical journal has its own guidelines for what to include in a clinical case report and how to structure the document. Nevertheless, the focus should be the patient and what was unique about the case. The case presentation should be concise, with clear take‑away messages that clinicians can put into practice.

4 Keys for Successful Clinical Case Report Writing 

The CARE guidelines will help you structure your clinical case report, but there is also an art to these documents. Below, we outline four keys for a successful approach to the research and writing processes.

1. Prepare to ask a lot of questions

As you assist authors, one of the most important ways to set yourself up for success is to ask plenty of questions, including:

• What key takeaway message will this clinical case report address for clinicians?
• What can you assume readers will already know?
• What new information will this case add to the existing literature?

It’s important to seek expert input so that you don’t miss or misrepresent critical information. Do you know the standard and abnormal values for related laboratory tests? Do you thoroughly understand the symptoms and treatment methods used in the case?

2. Think like a journalist

More than perhaps any other type of medical document, a clinical case report tells a story. Answer the basic questions covered in all news stories:

Journalists also carefully consider which details are important to the story. Some descriptions and human‑interest details help make the case compelling. Other details might distract the reader or add a sheen of drama that feels inappropriate for a clinical case report. 

3. Add visuals

Clinical case reports are learning tools. Adding photographs, X‑ray images, or other medical visuals will augment the document’s appeal and learning potential. 

Remind authors to get consent before using anything from patient records. It’s also important to block out all identifying information.

4. Seek acknowledgement

April 19, 2021 at 9:00 AM

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Guidelines To Writing A Clinical Case Report

What is a clinical case report.

A case report is a detailed report of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient. Case reports usually describe an unusual or novel occurrence and as such, remain one of the cornerstones of medical progress and provide many new ideas in medicine. Some reports contain an extensive review of the relevant literature on the topic. The case report is a rapid short communication between busy clinicians who may not have time or resources to conduct large scale research.

WHAT ARE THE REASONS FOR PUBLISHING A CASE REPORT?

The most common reasons for publishing a case are the following: 1) an unexpected association between diseases or symptoms; 2) an unexpected event in the course observing or treating a patient; 3) findings that shed new light on the possible pathogenesis of a disease or an adverse effect; 4) unique or rare features of a disease; 5) unique therapeutic approaches; variation of anatomical structures.

Most journals publish case reports that deal with one or more of the following:

• Unusual observations
• Adverse response to therapies
• Unusual combination of conditions leading to confusion
• Illustration of a new theory
• Question regarding a current theory
• Personal impact.

STRUCTURE OF A CASE REPORT[ 1 , 2 ]

Different journals have slightly different formats for case reports. It is always a good idea to read some of the target jiurnals case reports to get a general idea of the sequence and format.

In general, all case reports include the following components: an abstract, an introduction, a case, and a discussion. Some journals might require literature review.

The abstract should summarize the case, the problem it addresses, and the message it conveys. Abstracts of case studies are usually very short, preferably not more than 150 words.

Introduction

The introduction gives a brief overview of the problem that the case addresses, citing relevant literature where necessary. The introduction generally ends with a single sentence describing the patient and the basic condition that he or she is suffering from.

This section provides the details of the case in the following order:

• Patient description
• Case history
• Physical examination results
• Results of pathological tests and other investigations
• Treatment plan
• Expected outcome of the treatment plan
• Actual outcome.

The author should ensure that all the relevant details are included and unnecessary ones excluded.

This is the most important part of the case report; the part that will convince the journal that the case is publication worthy. This section should start by expanding on what has been said in the introduction, focusing on why the case is noteworthy and the problem that it addresses.

This is followed by a summary of the existing literature on the topic. (If the journal specifies a separate section on literature review, it should be added before the Discussion). This part describes the existing theories and research findings on the key issue in the patient's condition. The review should narrow down to the source of confusion or the main challenge in the case.

Finally, the case report should be connected to the existing literature, mentioning the message that the case conveys. The author should explain whether this corroborates with or detracts from current beliefs about the problem and how this evidence can add value to future clinical practice.

A case report ends with a conclusion or with summary points, depending on the journal's specified format. This section should briefly give readers the key points covered in the case report. Here, the author can give suggestions and recommendations to clinicians, teachers, or researchers. Some journals do not want a separate section for the conclusion: it can then be the concluding paragraph of the Discussion section.

Notes on patient consent

Informed consent in an ethical requirement for most studies involving humans, so before you start writing your case report, take a written consent from the patient as all journals require that you provide it at the time of manuscript submission. In case the patient is a minor, parental consent is required. For adults who are unable to consent to investigation or treatment, consent of closest family members is required.

Patient anonymity is also an important requirement. Remember not to disclose any information that might reveal the identity of the patient. You need to be particularly careful with pictures, and ensure that pictures of the affected area do not reveal the identity of the patient.

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Superficial temporal artery aneurysm misdiagnosed in a patient with long-term migraine headache treatment: a case report

• Meghdad Ghasemi Gorji 1 ,
• Ali Rafiei 2 &
• Amirhossein Rajabi 2  

Journal of Medical Case Reports volume  18 , Article number:  341 ( 2024 ) Cite this article

Superficial temporal artery aneurysm is a rare vascular abnormality without specific clinical symptoms. In this case report, we present the case of a patient with superficial temporal artery aneurysm who was diagnosed with migraine headache at first.

Case presentation

A 60-year-old Iranian man with a previous history of headaches, who did not respond properly to the treatments following the initial diagnosis of migraine, presented with a painless lump in the left temporal region, and he was diagnosed with superficial temporal artery aneurysm via Doppler ultrasound. Finally, surgical removal of the left superficial temporal artery aneurysm was performed.

Conclusions

This case shows the importance of vascular causes in the approach to headache etiologies, especially when the headache is prolonged without proper responses to treatment. Computed tomography angiography and magnetic resonance angiography are appropriate diagnostic methods for aneurysm detection that should be considered in future studies.

Peer Review reports

Introduction

Superficial temporal artery (STA) aneurysm is a highly uncommon vascular abnormality that can be divided into true and false aneurysms. The majority of cases are classified as pseudoaneurysms and are often associated with blunt trauma. However, the spontaneous development of true STA aneurysms is a rare phenomenon, and the underlying mechanism leading to their development remains largely unknown [ 1 ]. Headache is one of the rarest symptoms associated with true STA aneurysm. However, accurate diagnosis of headache etiologies is sometimes challenging, resulting in inappropriate use of diagnostic resources, increased incidence of illness and mortality, and higher costs in establishing the correct diagnosis [ 2 , 3 ]. In this case report, we present a patient who was diagnosed with migraine headache despite having a true STA aneurysm.

A 60-year-old Iranian male patient was referred to the Motahari clinic (Shiraz, Iran) by his family physician owing to a painless lump that had grown in his left temporal region (Fig.  1 ). The patient initially noticed the mass approximately 7 years ago but chose to dismiss it due to its small size and painlessness. Nevertheless, the lump exhibited gradual progression in size over the years. He denies any history of trauma to his head or face. Additionally, the patient reported experiencing intermittent headaches for about 5 years. He has been receiving medical treatment for a prolonged time for recurring headaches diagnosed as migraine. Unfortunately, the patient exhibited an inadequate response to the treatment administered. Upon examination, a nontender, pulsatile mass with a diameter of 1 cm was palpated that did not subside upon pressure on the proximal segment of the superficial temporal artery. An ultrasound examination of the soft tissue revealed a round lesion measuring 11.5 × 8.5 mm in size that appeared to be connected to the frontal branch of the left superficial temporal artery. Additionally, a color Doppler study demonstrated vascularity, leading to the diagnosis of a superficial temporal artery aneurysm. Surgical removal of the left STA aneurysm was performed (Fig.  2 ). The pathology report for the resected STA aneurysm indicated that the intima, media, and adventitia were well preserved. The patient did not report any headaches after the operation. On follow-up a month later, no complaints were mentioned.

A painless lump has been noticed on the left temporal region

The superficial temporal artery aneurysm was clearly visible during the surgery

An aneurysm is the abnormal dilation of a particular blood vessel in a localized area. The reason for most aneurysms observed in large- to medium-sized arteries is unclear, as only a small fraction have identifiable pathological causes. Inflammation, upregulation of proteolytic pathways, and loss of arterial wall matrix are some of the pathological mechanisms that contribute to the development of most degenerative aneurysms. The prevalence of aneurysms varies depending on the location. For instance, aneurysms are frequently observed in some body regions, including the abdominal aorta, but infrequently in other areas, such as the external iliac artery. According to the literature, the superficial temporal artery is one of the rarest locations for arterial aneurysms, which are often post-traumatic pseudoaneurysms.

A true STA aneurysm is even rarer than an STA pseudoaneurysm. After reviewing relevant literature, it can be concluded that an STA aneurysm alone is not usually life-threatening. However, it is essential to recognize the potential clinical significance of having aneurysms in multiple anatomical regions. According to a study by Norman et al. in 2010, autopsies found that nearly 40% of men and 25% of women with a thoracic aneurysm also had coexisting abdominal aortic, iliac, or femoral aneurysms. Additionally, around 7% of patients with abdominal aortic aneurysms (AAAs) and 5% with thoracic aortic aneurysms (TAAs) were found to have a cerebral aneurysm, suggesting a weak association between them [ 4 ]. The occurrence of simultaneous intracranial aneurysms (IA) in patients with true spontaneous aneurysm of STA was first reported by Ohta et al. in 2003 [ 5 ]. Subsequently, there have been reports of three more cases with concurrent aneurysms [ 6 , 7 , 8 ]. It is noteworthy that, in all four documented cases, two patients experienced subarachnoid hemorrhage (SAH) in connection with the coexistence of IA and STAA.

Therefore, it is reasonable to investigate the presence of aneurysms in other body regions when STA aneurysms are detected take appropriate preventive measures and avoid potential complications. Computed tomography angiography (CTA) and magnetic resonance angiography (MRA) are appropriate diagnostic methods for detecting STA aneurysms, which is reasonable due to the possible coexisting aneurysms in different locations, such as cerebral arteries.

In our case, the patient complained of prolonged headaches that did not respond well to migraine treatment. Therefore, conducting a CTA and brain magnetic resonance imaging (MRI) was deemed appropriate to investigate other potential causes. Despite the tests being normal for intracranial lesions, they were essential to rule out any other conditions that could be causing the patient’s headache.

Availability of data and materials

Not applicable.

Abbreviations

Superficial temporal artery

• Superficial temporal artery aneurysm

Computed tomography angiography

Magnetic resonance angiography

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Acknowledgements

This work was entirely funded by the authors. No external funding was received for the conceptualization, design, data collection, analysis, decision to publish, or preparation of the manuscript. The authors provided all financial support for every aspect of this research.

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Department of Vascular Surgery, Shiraz University of Medical Science, Shiraz, Iran

Meghdad Ghasemi Gorji

Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran

Ali Rafiei & Amirhossein Rajabi

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Contributions

Ali Rafiei was responsible for the initial writing of the case presentation, collecting the appropriate figures, and participating in exploring the latest relevant findings in the literature. Amirhossein Rajabi was responsible for receiving and extracting information from the patient’s file and coordinating with the hospital; he cooperated in completing the sections and creating the final version. Meghdad Ghasemi Gorji, the patient’s surgeon, identified the importance and rarity of the patient, performed the treatment workups, and helped in designing the study.

Corresponding author

Correspondence to Meghdad Ghasemi Gorji .

Ethics declarations

Ethics approval.

This research is based on the ethics guidelines of the Biomedical Research Ethics Committee of Shiraz University of Medical Sciences.

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Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

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Ghasemi Gorji, M., Rafiei, A. & Rajabi, A. Superficial temporal artery aneurysm misdiagnosed in a patient with long-term migraine headache treatment: a case report. J Med Case Reports 18 , 341 (2024). https://doi.org/10.1186/s13256-024-04647-4

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Received : 27 February 2024

Accepted : 09 June 2024

Published : 26 July 2024

DOI : https://doi.org/10.1186/s13256-024-04647-4

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Severe Dysphagia in a Patient with Wallenberg Syndrome and Killian Jamieson Diverticulum: A Case Report

• Case Report
• Open access
• Published: 27 July 2024
• Volume 6 , article number  81 , ( 2024 )

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• Carmel Cotaoco 1 , 2   na1 ,
• Takao Goto 1   na1 ,
• Misaki Koyama 1 ,
• Taku Sato 1 ,
• Kenji Kondo 1 &
• Rumi Ueha   ORCID: orcid.org/0000-0002-0608-7237 1 , 3  

Lateral medullary syndrome (Wallenberg syndrome) and Killian Jamieson diverticulum are both conditions known to cause dysphagia. Here, we present the first reported case of severe dysphagia due to Wallenberg syndrome and a Killian Jamieson diverticulum discovered incidentally during videofluoroscopic swallowing study. A 66-year-old male previously diagnosed with Wallenberg syndrome was referred to our hospital due to severe dysphagia. Pre-operative work-up revealed decreased left-sided pharyngeal contraction, left vocal fold paralysis, impaired laryngeal elevation, and poor upper esophageal sphincter relaxation during swallowing. Furthermore, on videofluoroscopic swallowing study, an incidental finding of a contrast-filled outpouching of the esophagus on the left, below the level of the cricopharyngeus, indicated the presence of a pharyngoesophageal diverticulum. The patient underwent bilateral cricopharyngeal myotomy with diverticulectomy, laryngeal suspension surgery, and tracheostoma revision. The diagnosis of a Killian Jamieson diverticulum was confirmed based on intra-operative findings, as the diverticular pouch was indeed seen to be located below the cricopharyngeal muscle. For patients with severe dysphagia that does not improve with swallowing rehabilitation, swallowing improvement surgery is an option. It aims to improve pre-operatively identified dysfunctional sites in the swallowing mechanism. It is important to always consider pharyngoesophageal diverticula as a possible cause of dysphagia so as not to miss the diagnosis. In this patient’s case, diverticulectomy was necessary to ensure the best possible outcomes in terms of improving his dysphagia.

Avoid common mistakes on your manuscript.

Introduction

Lateral medullary syndrome, also known as Wallenberg syndrome (WS), occurs due to occlusion of the posterior inferior cerebellar artery or vertebral artery [ 1 , 2 ]. It manifests with a wide array of symptoms, including dysphagia, due to involvement of the nucleus ambiguus and glossopharyngeal and vagus nerves [ 3 ].

Killian-Jamieson diverticulum (KJD) is a rare type of pharyngoesophageal diverticulum that arises inferior to the cricopharyngeal (CP) muscle and lateral to the longitudinal muscle of the esophagus—an area known as the Killian-Jamieson space. It is more often diagnosed in women at a mean age of 58 years and more commonly found on the left [ 4 ]. Its pathogenesis still remains unclear, but a dyscoordination of pharyngeal and esophageal muscles together with a weakening in the musculature of the esophagus seems to play a role [ 4 , 5 ]. Interestingly, many patients who are asymptomatic have KJD diagnosed as an incidental finding during work-up for a thyroid nodule, often seen during ultrasound [ 6 ]. Compared to other types of pharyngoesophageal diverticula, KJD is four times less prevalent than Zenker’s diverticula (ZD) but more common than Laimer diverticula (LD) [ 5 ].

This paper aims to present the first report of a patient with both conditions and discuss how it was managed.

Case Presentation

A 66-year-old male was referred to our hospital for swallowing improvement surgery to address his severe dysphagia. He was diagnosed with WS, left 1 year and 6 months prior. The patient had tracheostomy tube and percutaneous endoscopic gastrostomy (PEG) tube placement at that time, and since then, all his nutrition was given via the PEG tube due to persistence of his severe dysphagia. The tracheostomy tube used was a non-fenestrated, cuffed double-tube (NeoBreath®, an outer diameter of 12 mm: Koken Co., Ltd., Tokyo, Japan). Since then, the patient did not develop any further complications, such as pneumonia, and his nutrition status was well maintained. The patient also denied any history of dysphagia prior to being diagnosed with WS.

On physical examination, the level of the patient’s larynx was noted to be low with poor elevation during swallowing. Laryngeal endoscopy showed copious pooling of secretions at the hypopharynx with concomitant aspiration, weak contraction of the left hypopharyngeal wall, and left vocal fold paralysis (paramedian position fixation) (Fig.  1 A). A videofluoroscopic swallowing study (VFSS) showed impaired flow of contrast past the area of the CP muscle, aspiration of a high volume of contrast material, an incidental finding of a contrast-filled outpouching of the esophagus on the left, and decreased esophageal motility (Fig.  1 B, C ). Other findings on VFSS included complete glossopalatal seal, but impairment in the extent of laryngeal vestibule closure, range of hyolaryngeal anterior–superior movement, base of the tongue retraction, epiglottic inversion, and maximum upper esophageal sphincter (UES) distension. There was also a high volume of residual material that remained in the hypopharynx after swallowing (Supplemental movie 1 ). High-resolution manometry (HRM) showed poor contraction at the hypopharynx and inadequate relaxation at the UES during swallowing (Fig.  1 -D). Specifically, the velopharyngeal closure integral was 418.4 mmHg/s/cm, the meso-hypopharynx contractile integral was 127.6 mmHg/s/cm, the resting UES pressure was 77.9 mmHg, the UES opening duration was 0 ms, and the UES relaxation pressure-nadir was 13.6 mmHg [ 7 ]. Neck CT scan also showed an air-filled sac lateral to the esophagus on the left at a level immediately below the cricoid cartilage (Fig.  1 E).

Pre-operative: A copious hypopharyngeal secretions with aspiration on endoscopy; B, C pharyngoesophageal diverticulum (white arrowhead) seen below the level of the upper esophageal sphincter (thin white arrow) on videofluoroscopic swallowing study (VFSS). VFSS image taken post-swallow with a 3 mL, moderately thickened liquid bolus with hyoid bone (black arrow) and hypopharynx (thick white arrow) shown as well; D abnormal upper esophageal sphincter opening (black arrowheads), decreased hypopharyngeal pressure on high resolution manometry during a dry swallow with corresponding VFSS image on the right; E pharyngoesophageal diverticulum (white arrowhead) on CT scan. R: right, L: left, A: anterior, P: posterior

The planned surgery for the patient was a CP myotomy bilaterally, thyromandibular suspension, and diverticulectomy via a transcervical approach with tracheostoma revision. First, suspension laryngoscopy was done, and the diverticulum was visualized as a left lateral outpouching at the esophagus, below the CP muscle (visualized as the cricopharyngeal bar) (Fig.  2 A), confirming that it was a KJD. Once it had been visualized, a gauze strip was inserted into the diverticulum to aid in identification later on. The patient’s neck was then opened and a previously inserted balloon catheter in the esophageal lumen was inflated. CP myotomy was done first on the right. Next, the diverticulum on the left was carefully dissected from the surrounding soft tissues and seen to be located below the CP muscle, again confirming that it was indeed a KJD (Fig.  2 B). At this point, CP myotomy on the left was done, followed by the diverticulectomy. The excised diverticulum was noted to measure 2.5 cm at its widest diameter. The defect was closed with sutures in two layers. Lastly, thyromandibular suspension (Fig.  2 C) followed by tracheostoma revision was done.

Intra-operative: A endoscopic view of the diverticulum (star) originating below the cricopharyngeal muscle (black arrowheads) to the left of the esophageal lumen (asterisk); B diverticulum (white arrowheads) exposed; C thyromandibular suspension

Post-operative examinations included laryngeal endoscopy done once a week, VFSS, which was done 4 days after the surgery and every week until the patient was discharged 40 days post-operatively, and HRM, which was done on the 35th post-operative day. The post-operative VFSS showed improved passage of the bolus through the UES and no evidence of the previously visualized diverticulum (Fig.  3 A, Supplemental movie 2 ). As seen in Fig.  3 A, the patient is positioned with his jaw brought forward and his neck slightly extended when swallowing. After thyromandibular suspension, this position brings the thyroid cartilage forward as well, facilitating the opening of the UES. There were also no signs of reflux of the contrast material during the VFSS with the patient in an upright position (Supplemental movie 2 ). Laryngeal endoscopy showed that the bilateral arytenoid cartilages were pulled forward due to laryngeal elevation with improved opening of the UES and decreased pooling of secretions at the hypopharynx (Fig.  3 B). HRM showed significantly decreased pressure at the UES during swallowing (Fig.  3 C). Specifically, compared to the pre-operative measurements, the patient’s post-operative resting UES pressure had decreased to 14.7 mmHg, while the UES opening duration had increased to 425 ms, and the UES relaxation pressure-nadir had decreased to − 9.1 mmHg. Post-operative velopharyngeal closure integral was measured at 309.4 mmHg/s/cm and meso-hypopharynx contractile integral was 22.6 mmHg/s/cm. Post-operative histopathology results showed no malignant findings.

Post-operative: A improved contrast flow through the upper esophageal sphincter (UES) on videofluoroscopic swallowing study; B bilateral arytenoids (Rt. and Lt. Ary) pulled anteriorly due to laryngeal elevation with widened UES opening (white arrow) and decreased hypopharyngeal secretions on endoscopy; C decreased pressure at UES (dotted box) on high resolution manometry

Post-operative swallowing training included swallowing rehabilitation, including postural adjustment, adjustment of the amount of one mouthful, and adjustment of food properties. Swallowing therapy sessions were done twice a week. Actual oral intake was started on the 12th post-operative day. Initially, the patient was placed in a 45-degree reclining position when eating and started with a 3 mL mouthful of jelly only. At the time of discharge from the hospital, the patient was placed on a 60-degree reclining position when eating and was able to tolerate full oral intake, consisting of a paste diet with 5 ml mouthfuls, mildly thickened water, and coughing to prevent aspiration. At six months after the surgery, the patient had improved to tolerate oral intake in an upright, sitting position up to level 6 of the International Dysphagia Diet Standardisation Initiative (IDDSI) Framework, which means he was able to eat soft, bit-sized foods orally [ 8 ]. A repeat VFSS done at this time with the patient in an upright position revealed that he was able to tolerate 5 mL of moderately thickened water with a Penetration-Aspiration Scale (PAS) score of 1. 5 mL of a mildly thickened water had a PAS score of 2, and 5 mL of thin liquid had a PAS score of 8; therefore, the patient was maintained on mildly thickened liquids. With all liquid consistencies, pharyngeal residue was minimal. Upon follow-up, the patient also did not complain of reflux symptoms, despite the bilateral cricopharyngeal myotomy.

The management of this patient’s case was complicated due to the need to consider two conditions that are both known to cause dysphagia. Due to impairment of the glossopharyngeal and vagus nerve functions, WS can cause impairment in more than one site of the swallowing mechanism. It is known to affect the pharyngeal phase of swallowing more and manifest with laryngopharyngeal paresis [ 1 , 2 , 9 ]. The dysphagia can often be improved with swallowing rehabilitation, including direct and indirect swallowing exercises and balloon training to expand the UES. However, if the dysphagia fails to improve after six months, despite more conservative forms of treatment such as rehabilitation and medication, then swallowing improvement surgery is an option [ 10 ].

Swallowing improvement surgery addresses dysfunctional sites in the swallowing mechanism to improve the passage of food to the esophagus. In this patient’s case, due to the impaired passage of food through the UES, decreased hypopharyngeal contractility, and poor laryngeal elevation during swallowing, performing a CP myotomy bilaterally together with laryngeal suspension would address these dysfunctional sites. CP myotomy would serve to improve the passage of the food bolus by decreasing the resistance of the UES and increasing the length of time that food may pass through the sphincter [ 11 , 12 ]. The displacement of the larynx anteriorly and superiorly via suspension would help to open up the area of the UES even further [ 13 ]. Even if the pressure in the UES is reduced, physical passage of food material through the UES remains limited without anterior elevation of the larynx, which is achieved through laryngeal elevation surgery. We believe that laryngeal elevation should be performed in patients with severe dysphagia who have impaired laryngeal elevation, decreased pharyngeal contraction, and impaired passage of food material through the UES.

Distinguishing KJD from other pharyngoesophageal diverticula pre-operatively can be a challenge. The 3 types of diverticula are differentiated based on the locations from which they arise. ZD arise from an area above the CP muscle (Killian’s dehiscence), and KJD arise from an area below the CP muscle (Killian-Jamieson space), while LD arise posteriorly below the CP muscle at an area called the Laimer-Haeckerman triangle [ 5 , 14 ]. There is no ideal testing protocol or established gold standard in diagnosing pharyngoesophageal diverticula; however, most patients presenting with dysphagia are likely to undergo a VFSS. According to literature, pre-operative VFSS has a 46% sensitivity and 97% specificity in identifying KJD [ 14 ]. Due to their anatomic locations, ZD are visualized more as an outpouching at the posterior wall of the pharynx on lateral view above the cricopharyngeal muscle and often with a prominent cricopharyngeal bar. KJD is better visualized from an anteroposterior view as a lateral outpouching below the cricopharyngeal muscle. However, distinguishing the exact level of the cricopharyngeal muscle on VFSS can be difficult, and distinguishing between ZD and KJD is especially difficult when the diverticulum is long and inferiorly displaced [ 15 ]. CT scan is not routinely done in patients that complain of dysphagia, but it is good in defining anatomic structures of the larynx. While the cricoid cartilage, which estimates the level of the CP muscle, is easily identified on a CT scan, identification of the CP muscle specifically may also be difficult. VFSS and CT scan findings taken together may increase the sensitivity of detecting a KJD [ 15 ]; therefore, it may be advisable to perform both tests prior to surgery for a pharyngoesophageal diverticulum. In this patient’s case, the diverticulum was suspected pre-operatively to be a KJD based on the VFSS and CT scan findings, but confirmation was done intra-operatively, as the diverticular pouch was seen both endoscopically and via the open approach to be located below the CP muscle. Many patients with KJD are asymptomatic and due to its rarity and the scarce data available, there is no clearly defined indication for surgery. Most patients who consult because they are symptomatic often have larger diverticula (median size: 2.7 cm) than asymptomatic patients (median size: 1.3 cm) [ 6 ]; however, most recommend surgery for all patients that are symptomatic [ 5 ], regardless of size. Furthermore, surgery eliminates the possibility of malignancy, which has been seen in 0.7–1.1% of pharyngoesophageal diverticula [ 16 ].

Another point to consider is whether the patient’s WS could have caused the formation of a KJD. As previously mentioned, the pathophysiology of KJD is still unclear. CP dysfunction has been implicated in the pathophysiology of ZD [ 4 ], and inadequate relaxation of the CP muscle during swallowing was seen in this patient. However, considering that a KJD is located below the CP muscle, it seems unlikely that it formed due to the CP dysfunction seen in WS.

Lastly, it is most likely that the patient’s dysphagia can mostly be attributed to his WS. However, because CP myotomy was planned bilaterally, the patient would have been more susceptible to the reflux of food material from the diverticular pouch had it not been removed. The diverticulum may have also hampered the smooth passage of food through the esophagus if not removed, making the swallowing improvement surgery less effective. This highlights the importance of thorough diagnostic work-up for all patients with dysphagia. Considering that KJD is quite rare and not a common differential diagnosis for patients complaining of dysphagia, clinicians may miss the diagnosis of a small KJD.

This is the first known reported case of a patient with both Wallenberg syndrome and a Killian-Jamieson diverticulum. In treating patients with dysphagia, thorough pre-operative work-up is essential, and physicians must always consider the possibility of a pharyngoesophageal diverticulum in order to plan the appropriate management for the best post-operative outcomes.

Data Availability

Not applicable.

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Abbreviations.

• Wallenberg syndrome
• Killian-Jamieson diverticulum

Cricopharyngeal

Zenker’s diverticulum

Laimer diverticulum

Percutaneous endoscopic gastrostomy

Videofluoroscopic swallowing study

Upper esophageal sphincter

High resolution manometry

International Dysphagia Diet Standardisation Initiative

Penetration-Aspiration Scale

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Carmel Cotaoco and Takao Goto contributed equally to this work.

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Department of Otolaryngology and Head and Neck Surgery, The University of Tokyo, Tokyo, Japan

Carmel Cotaoco, Takao Goto, Misaki Koyama, Taku Sato, Kenji Kondo & Rumi Ueha

Ear Nose Throat Head and Neck Surgery Institute, The Medical City, Pasig, Philippines

Carmel Cotaoco

Swallowing Center, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-Ku, Tokyo, 113-8655, Japan

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CC engaged in patient care, conducted literature search, and drafted the work. TG engaged in patient care, conducted literature search, and critically revised manuscript. RU engaged in patient care, drew the figures, and drafted and critically revised manuscript. MK contributed to patient care and manuscript writing and reviewed manuscript. TS contributed to patient care and manuscript writing and reviewed manuscript. KK contributed to patient care and reviewed manuscript. All authors reviewed and approved the final version of the manuscript to be published.

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Cotaoco, C., Goto, T., Koyama, M. et al. Severe Dysphagia in a Patient with Wallenberg Syndrome and Killian Jamieson Diverticulum: A Case Report. SN Compr. Clin. Med. 6 , 81 (2024). https://doi.org/10.1007/s42399-024-01713-2

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Lessons Learned from Challenging Cases in Clinical Research Ethics

Clinical Researcher April 12, 2024

Clinical Researcher—April 2024 (Volume 38, Issue 2)

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Lindsay McNair, MD, MPH, MSB

[A review of Challenging Cases in Clinical Research Ethics . 2024. Wilfond BS, Johnson L-M, Duenas DM, Taylor HA (editors). CRC Press (Boca Raton, Fla.)]

Challenging Cases in Clinical Research Ethics may not be a book you take to the beach for a light read, but if you have a role, or an interest, in how we analyze the complex ethical challenges that are an integral part of conducting clinical research, it may be a good book for you. This is a reference book, a teaching tool, and, in some ways, a historical record.

While healthcare institutions have long had ethics committees or even trained clinical ethicists to provide consultation to staff and families during difficult situations in clinical care settings, the specialized practice of clinical research ethics consultation is much more recent. As described in the foreward of the book, the development of this kind of resource was spurred by the National Institutes of Health’s (NIH’s) Clinical and Translational Science Awards (CTSA) program, a funding mechanism which supports a network of almost 60 medical institutions across the United States to facilitate collaboration that expedites the design and dissemination of new medical advances. Since a requirement of the funding program is that the institutions must have ethical support services, the CTSA-funded institutions created ethics consultation services that focused on the research ethics issues likely to arise from the CTSA-funded work.

In 2014, the leaders of the clinical research consultation services across the organizations formed a group to share information and best practices, called the Clinical Research Ethics Consultation Collaborative (CRECC). The CRECC continues to be an active group, and membership is open to anyone who is in a role related to clinical research ethics practice, including representatives not just from the CTSA-funded institutions, but also from biopharmaceutical companies and independent contributors.

This book arose from the work of the CRECC. The cases discussed in the book are real situations at research institutions across the U.S. for which the persons involved sought advice from their local consultation services, and the consultants brought the case to CRECC for discussion. The editors make a point of saying that by the time of the finished case discussion, each case involved 30 to 50 consultants, and they recognize almost 170 contributors to the book, including most of the best-known and most well-respected research bioethicists.

Each year, the American Journal of Bioethics has published up to four of these case presentations, along with two to four commentaries on the case from different ethicists to provide a variety of approaches, perspectives, and opinions. These cases and the accompanying commentaries comprise this book.

The editors have organized the book around the ethical principles for research ethics that were described in a seminar paper by Emanuel, Wendler, and Grady in 2000,{1} resulting in five main sections focused on collaborative partnerships, respect for participants, fair participant selection, favorable risk-benefit ratio, and informed consent. Because they also recognize that there were many possible ways to organize the material and that someone looking for discussion of a specific topic may want to be able to search in more detail, the book includes three separate appendices; one that lists cases by primary and secondary ethical principles involved, one that lists cases by topic keywords (e.g., pediatrics, Phase I trials, social media), and one that lists cases by values relevant to the discussion (social value, equity, and trustworthiness), as well as a standard index which lists topics, people, policies, and keywords and the pages on which the terms appear or are discussed.

In each section, an editor presents a brief description of the unifying theme of that section, and then short summaries of each of the five to eight cases under that theme. The section then delves into each case in more detail with an introduction that includes any necessary background context (disease details, standard of care framing, existing policy), a case description (often just a page or two), references, and then one to four commentaries.

The commentaries, each by different authors, approach different considerations or aspects of the case, together providing a variety of opinions and a well-rounded discussion. For example, there is a case focused on a request from a study team to unblind a participant’s treatment assignment after an adverse event (to help determine relationship to study drug and whether other participants were also at risk, or whether the event was a symptom of the underlying condition). The commentaries are presented by two ethicists from a sponsor company discussing the ethical issues of unblinding and the impact on study data; an ethicist from the NIH discussing considerations of a data monitoring committee in making decisions that will impact studies; and an ethicist involved in health monitoring programs for chronic illness who discusses issues of community trust and communication. The editors and commentators are careful to focus on the relevant ethical issues and conflicts, and not on operational or regulatory requirements, although they do address those considerations.

Although the cases all stem from situations that developed at research institutions, almost all of the content is relevant to other audiences in the clinical research ecosystem, including situations encountered in biopharmaceutical-sponsored studies that industry leaders have to think about. For example, there are cases that discuss ethical implications of advertising for research participants on social media, whether compensation for participation can (or should) be withheld from a participant who was intentionally deceptive to get enrolled in the study, how extensive the “alternative options” presented in a consent form should be, and whether a patient with advanced cancer must exhaust all possible treatment options before being allowed to enroll in a Phase I study of a new immunotherapy.

There are a number of ways that teachers, trainers, and leaders could use the content of this book both for education, and as the basis for case-based discussions. Overall, I would recommend this book as a resource for anyone in a training or leadership role, both for personal education and as a useful tool for developing training content that will likely prompt thoughtful discussion.

• Emanuel EJ, Wendler D, Grady C. 2000. What makes clinical research ethical? JAMA 283(20):2701–11. doi:10.1001/jama.283.20.2701. PMID:10819955.

Lindsay McNair, MD, MPH, MSB, is a physician, research ethicist, and Founder and Principal Consultant of Equipoise Consulting LLC, which provides consulting for projects related to the scientific and ethical conduct of research studies and drug development programs. She joined the Clinical Research Ethics Collaboration Collective, from which the authors of the reviewed book drew their case discussions, in 2023, when the book was already in the process of publication.

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Intra-articular surgical reconstruction of a canine cranial cruciate ligament using an ultra-high-molecular-weight polyethylene ligament: case report with six-month clinical outcome.

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Ödman, S.; Martenne-Duplan, A.; Finck, M.; Crumière, A.; Goin, B.; Buttin, P.; Viguier, E.; Cachon, T.; Julinder, K. Intra-Articular Surgical Reconstruction of a Canine Cranial Cruciate Ligament Using an Ultra-High-Molecular-Weight Polyethylene Ligament: Case Report with Six-Month Clinical Outcome. Vet. Sci. 2024 , 11 , 334. https://doi.org/10.3390/vetsci11080334

Ödman S, Martenne-Duplan A, Finck M, Crumière A, Goin B, Buttin P, Viguier E, Cachon T, Julinder K. Intra-Articular Surgical Reconstruction of a Canine Cranial Cruciate Ligament Using an Ultra-High-Molecular-Weight Polyethylene Ligament: Case Report with Six-Month Clinical Outcome. Veterinary Sciences . 2024; 11(8):334. https://doi.org/10.3390/vetsci11080334

Ödman, Sven, Antonin Martenne-Duplan, Marlène Finck, Antonin Crumière, Bastien Goin, Philippe Buttin, Eric Viguier, Thibaut Cachon, and Krister Julinder. 2024. "Intra-Articular Surgical Reconstruction of a Canine Cranial Cruciate Ligament Using an Ultra-High-Molecular-Weight Polyethylene Ligament: Case Report with Six-Month Clinical Outcome" Veterinary Sciences 11, no. 8: 334. https://doi.org/10.3390/vetsci11080334

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• Open access
• Published: 29 July 2024

The Ugandan sickle Pan-African research consortium registry: design, development, and lessons

• Mike Nsubuga 1 , 2 , 3 , 4 ,
• Henry Mutegeki 3 , 4 , 5 ,
• Daudi Jjingo 3 , 4 , 5 ,
• Deogratias Munube 6 ,
• Ruth Namazzi 6 ,
• Robert Opoka 6 , 7 , 9 ,
• Philip Kasirye 6 ,
• Grace Ndeezi 6 ,
• Heather Hume 8 ,
• Ezekiel Mupere 6 ,
• Grace Kebirungi 3 , 4 ,
• Isaac Birungi 9 ,
• Jack Morrice 10 ,
• Mario Jonas 10 ,
• Victoria Nembaware 10 ,
• Ambroise Wonkam 11 ,
• Julie Makani 12 &
• Sarah Kiguli 6  

BMC Medical Informatics and Decision Making volume  24 , Article number:  212 ( 2024 ) Cite this article

Metrics details

Sub-Saharan Africa bears the highest burden of sickle cell disease (SCD) globally with Nigeria, Democratic Republic of Congo, Tanzania, Uganda being the most affected countries. Uganda reports approximately 20,000 SCD births annually, constituting 6.67% of reported global SCD births. Despite this, there is a paucity of comprehensive data on SCD from the African continent. SCD registries offer a promising avenue for conducting prospective studies, elucidating disease severity patterns, and evaluating the intricate interplay of social, environmental, and genetic factors. This paper describes the establishment of the Sickle Pan Africa Research Consortium (SPARCo) Uganda registry, encompassing its design, development, data collection, and key insights learned, aligning with collaborative efforts in Nigeria, Tanzania, and Ghana SPARCo registries.

The registry was created using pre-existing case report forms harmonized from the SPARCo data dictionary and ontology to fit Uganda clinical needs. The case report forms were developed with SCD data elements of interest including demographics, consent, baseline, clinical, laboratory and others. That data was then parsed into a customized REDCap database, configured to suit the optimized ontologies and support retrieval aggregations and analyses. Patients were enrolled from one national referral and three regional referral hospitals in Uganda.

A nationwide electronic patient-consented registry for SCD was established from four regional hospitals. A total of 5,655 patients were enrolled from Mulago National Referral Hospital (58%), Jinja Regional Referral (14.4%), Mbale Regional Referral (16.9%), and Lira Regional Referral (10.7%) hospitals between June 2022 and October 2023.

Uganda has been able to develop a SCD registry consistent with data from Tanzania, Nigeria and Ghana. Our findings demonstrate that it’s feasible to develop longitudinal SCD registries in sub-Saharan Africa. These registries will be crucial for facilitating a range of studies, including the analysis of SCD clinical phenotypes and patient outcomes, newborn screening, and evaluation of hydroxyurea use, among others. This initiative underscores the potential for developing comprehensive disease registries in resource-limited settings, fostering collaborative, data-driven research efforts aimed at addressing the multifaceted challenges of SCD in Africa.

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Introduction

Sickle cell disease (SCD) is a public health challenge with a significant burden globally, particularly affecting sub-Saharan Africa, where 75% of the disease occurs [ 1 ]. That comparatively higher prevalence is largely driven by malaria, against which persons with the sickle cell trait have higher resistance [ 2 ]. Indeed, the mutation causing SCD arose in Africa thousands of years ago and was propagated within human populations to help protect against malaria, a historically major cause of death on the continent [ 3 ]. Characterized by a group of inherited red blood cell disorders, sickle cell anemia, the most severe form of SCD, results from the homozygous inheritance of the sickle hemoglobin gene. This genetic alteration leads to the production of abnormally shaped red blood cells, precipitating a cascade of phenotypical clinical complications ranging from acute pain, chronic pain and severe infections to stroke and organ damage [ 4 ].

Each year, more than 400,000 babies are born with SCD globally, with the majority, approximately 300,000, affected by sickle cell anemia [ 1 , 5 ]. These numbers are expected to double by 2050 [ 5 ], underscoring the urgent need for improved care, research, and prevention strategies. In Uganda, SCD is a public health priority, with approximately 20,000 babies born with sickle cell anemia annually, constituting roughly 6.67% of reported global SCD births [ 6 ].

Although sub-Saharan Africa bears the highest burden of SCD worldwide, there is a lack of comprehensive data from well-designed longitudinal studies on SCD essential for understanding the disease’s epidemiology, progression, and the interplay of genetic and environmental factors influencing its cause [ 7 ]. Recently, there has been an increase in SCD research from Africa [ 8 , 9 , 10 ], signaling a growing recognition of the disease’s burden and an increased focus on addressing it. However, most studies are single-center, employ inconsistent data collection methods, and are not longitudinal. In order to better understand the epidemiology, disease progression, and disease modifiers of SCD, there is a need to conduct well-designed multi-center, long-term longitudinal cohort studies in Africa, backed by appropriately designed registries.

SCD registries are particularly useful for long-term follow-up studies that aim to understand the patterns of disease severity, and the social, environmental determinants of outcomes in patients with SCD in Africa. The establishment of centralized, national, electronic, SCD registries consented by patients in Africa holds the potential to revolutionize SCD research and treatment. Such a registry not only promises a deeper understanding of the disease but also serves as the cornerstone for the development of personalized healthcare strategies tailored to the unique and diverse needs of SCD patients [ 1 ].

Uganda joined the Sickle Pan Africa Research Consortium (SPARCo) in 2020 [ 11 ]. SPARCo is a collaborative initiative involving 6 countries (Ghana, Nigeria, Tanzania, Mali, Zambia, Zimbabwe, and Uganda) whose aim is to improve outcomes of persons with SCD through multi center research and regionally adapted evidence based clinical care in Africa. Here, we present an in-depth description of the development of an electronic patient consented registry in Uganda. We also present an analysis of the patient enrollment and management thereby contributing valuable insights and laying the foundation for future research and intervention strategies tailored to combat SCD’s profound impact in sub-Saharan Africa.

Study sites

The registry was developed at Mulago National Referral Hospital Sickle cell clinic in Kampala, the capital city of Uganda, which is one of the most populous areas with 1.6 million inhabitants [ 12 ]. The Mulago Sickle cell clinic is the largest and oldest clinic in Uganda and the East African region, and serves mainly the central region, but receives patients from the rest of the country. Subsequently, the registry was expanded to three additional Regional Referral Hospitals: Jinja Regional Referral Hospital in Eastern Uganda, Mbale Regional Referral Hospital and Lira Regional Referral Hospital. The geographic distribution of the program’s catchment areas thus extends across three of four major regions in the country, all of which possess a high prevalence of SCD [ 6 ]. The Ministry of Health (MOH) of Uganda was involved as key stakeholders from the inception of the registry, with regular updates and participation in the Advisory Committee to ensure sustainability. Furthermore, the health workers who were responsible for enrolling patients were employed by the MOH, which helped promote the registry’s long-term viability.

Study design

The registry utilized a longitudinal study design, wherein data was systematically collected from each patient during every follow-up visit.

Database design

The SPARCo Uganda registry was developed using a comprehensive approach, beginning with the adoption of standardized ontologies for SCD under the coordination of the Sickle Africa Data Coordinating Center (SADaCC) [ 13 , 14 ]. Adjustments and customizations of these were then applied to suit local context, both by way of collected data types and local clinical standards (Fig.  1 ). The harmonization and mapping were done in Python and scripts have been added in the code section. These optimized ontologies facilitated structured data representation and standardized data capture. Following this, a Case Report Form (CRF) was developed, aligning data items from various sources, including existing forms at Mulago National Referral Hospital, to ensure consistency and accuracy in data collection. This process was then tailored to fit specific clinical processes at each site. We integrated Research Electronic Data Capture (REDCap), a versatile web-based platform optimized for modern scientific data collection [ 15 , 16 ]. Scripts were developed utilizing its built-in validation rules and automated data quality checks including blank value checks, incorrect values for calculated fields checks and field validation to ensure the integrity of research data.

Figure showing the ontology data mapping and harmonization process

Implementation of registry deployment and mobile app utilization for data collection

The deployment of the registry was set up on a Linux server running CentOS 8 and housed at the African Center for Excellence in Bioinformatics and Data Intensive Sciences (ACE) [ 17 ]. Single Sign-On authentication was integrated to enhance security and multi-site access. This approach simplified user access across different sites. Additionally, the REDCap mobile application was implemented, enabling data entry personnel at various hospital sites to efficiently collect data. This was also configured to allow for data collection both in online and offline modes, ensuring uninterrupted data capture (Fig.  2 ).

Figure showing the database design and architecture of the registry

Participant consent procedures

The study procedures were explained to both patients and/or their caregivers. Prior to enrollment in the registry, individuals who consented to participate were required to sign a written informed consent form, indicating their approval. In instances where patients were below 18 years of age, informed consent was obtained from their caregivers. For patients aged 18 years and older, consent was directly obtained from the patients themselves. Patients aged between 8 and 17 years were provided with assent forms, in addition to written informed consent from their caregivers.

Data entrant training

Training workshops were conducted at each site, where data managers, coordinators, and clerks were trained on completing CRFs and inputting data electronically. These sessions were designed to ensure uniformity and high-quality data collection across all sites.

Patient enrollment and data collection

Using CRF, demographic data, including date of birth/age at enrollment, gender, religion, and place of residence, were collected through interviews with the patient/caregiver, along with a review of the patient’s medical records. Information regarding SCD phenotypes, blood group, and SCD test type administered were extracted from the patient’s medical records. Lab results including a complete blood count with differential counts. Follow-up clinical data at each clinic visit were also captured and included vital signs such as body temperature, and blood pressure and management details such as usage of hydroxyurea, penicillin V, malaria chemoprophylaxis, folic acid, up-to-date status of pneumococcal vaccination were captured. Additional clinical information about chest pain, priapism, anemia, and jaundice were also captured as part of the follow-up visit. A deduplication process was implemented within Redcap using unique identifiers to prevent duplicate entries. Enrolling sites had access only to their local patient data ensuring confidentiality and data security. The full data collection instrument with all the variables that are collected has been provided as part of supplementary material (Supplementary Material 1 ). The data used to generate the figures has been attached in the supplementary materials as two separate files namely enrollment_trends.csv and site-frequencies.csv.

Data management & analysis

Regular data quality checks and progress monitoring were conducted on a weekly basis, accompanied by the timely resolution of any arising queries. The overall data manager conducted comparative analysis and presented aggregated data during these weekly meetings. During the data collection phase, data clerks were afforded ongoing assistance and guidance to navigate and resolve any technical challenges encountered including mobile updates and errors resulting from attaching big sized images. The registry prioritized data quality assurance, employing in-house rules to enforce data type restrictions, range checks, and uniform data entry procedures. In addition to the server’s daily automatic backups, data was also manually backed up onto an external hard disk system for added security. Furthermore, comprehensive automatic backups were performed quarterly, with data being stored both online and on a distinct external hard disk for redundancy. To ensure further data safety, de-identified data were routinely transmitted to the SPARCo Hub and SADaCC via REDCap, serving as an additional backup layer. A descriptive analysis of the collected data depicting the number of enrollment trends and number of patients at each site was conducted in R 4.2.1 [ 18 ], dates were formatted using lubridate v1.8.0 [ 19 ] with and the map visualization was done using sf v1.0-15 [ 20 ] and rnaturalearth v1.0.1 [ 21 ] packages.

From June 2022 to October 2023, we registered and enrolled a total of 5,655 patients with SCD across the 4 sites in Uganda. The geographical distribution of these enrollment sites is depicted in Fig.  3 .

Map of Uganda showing regions with different sites

Enrollment trends over time

The highest number enrolled in a month was in August 2022(902), and the lowest was in October 2023(56). This is shown in Fig.  4 .

Enrollment trends of SCD patients from June 2022 to October 2023 showing monthly increases and fluctuations over the study period

The SPARCo database has established an extensive registry, distinguished as the inaugural and most extensive of its kind in Uganda. The data components employed by the Ugandan registry mirror those utilized in other nations participating in SPARCo and originate from the SCD ontology, aiming to foster consistency across SCD databases throughout Africa [ 13 , 22 ]. Although this continent-wide ontology forms the backbone of all registries, national registries can have either more or less ontological elements, depending on their own clinical protocols and standards of care or even simply what data they can afford to collect. In our case, elements from previous forms (Supplementary Material 2 ) about physical examination, previous diagnosis and whether a patient undertook daycare treatment were added to the ontology.

In collaboration with the SADaCC, this registry aims for universal acceptance and precise data capture, adhering to the structured SCD ontology. Standard operating procedures (SOPs), devised jointly with SPARCo and SADaCC, ensure uniform data collection, data quality, and compliance with the FAIR (Findable, Accessible, Interoperable, and Reusable) principles, enhancing both human and computer usability [ 23 ]. This establishment is similar to SPARCo Ghana, Nigeria and Tanzania registries [ 24 , 25 , 26 ]. In contrast with SPARCo Tanzania, the registry enrolled patients from four regional referral hospitals and district hospitals, with varying SCD epidemiology.

The advancement and coordination of our registry, in collaboration with the broader SPARCo network, are paving the way for the consolidation of data from numerous sites. This consolidation is vital for higher statistical power to drive deeper insights into the landscape of SCD on the continent and improvement of the utilization of the REDCap mobile application, particularly for data collection in settings where internet connectivity is unavailable. Previously, the database at Mulago site encountered challenges with lab results often returning a day after they were ordered or some patients lacking funding to order lab tests promptly, leading to inconsistencies in the entered results. However, these issues have been resolved due to the registry’s ability to easily update and amend records, ensuring more consistent recording of lab results. The development of harmonized SOPs and minimum uniform data elements across participating sites ensures that the data collected is standardized. This standardization is key in forming a comprehensive dataset within the consortium. Utilizing this extensive data, we are positioned to apply advanced data science approaches, employing innovative methodologies and algorithms designed for analyzing large datasets. Such analysis will be instrumental in yielding critical insights, which are essential for the development of effective interventions and improving the overall care for patients with SCD.

The trend in patient enrollment demonstrated a strong and steady increase during the first half-year, with an average of 500 new patients each month. This rate is notably higher than that observed in other SPARCo registries across Africa, such as in Tanzania, Ghana, and Nigeria, where the monthly average was around 150 patients. This highlights the particularly high patient volume in Uganda and the likely more mature SCD clinical infrastructure in the country. Enrollment numbers were highest in August due to the outreach efforts and the addition of two new sites, Jinja and Mbale, which peaked in their first month of enrollment. Initially, only Mulago was operational contributing to the numbers in June and July. The registry experienced a decrease in enrollment in the month of December, this trend has been similarly observed in the other SPARCo sites (Tanzania, Nigeria and Ghana). During December, extended public holidays are observed, prompting many families to celebrate the Christmas festive season away from their regular residences.

Over a period of 17 months, our registry successfully enrolled a total of 5,655 patients, setting a record for the most rapid accumulation of patient data among SPARCo SCD registries within such a timeframe, especially when compared to similar registries in Tanzania, Ghana, and Nigeria [ 24 , 25 , 26 ]. The National Referral Hospital, particularly Mulago National Referral Hospital, enrolled more patients than the regional referral hospitals. This discrepancy is attributed to the sickle cell clinic’s daily operation, compared to weekly operations at regional hospitals, its larger staff, and its broader service population. The Mulago sickle cell clinic has seen some recent rise in the number of researchers, and patients there might also be more likely to consent. Furthermore, this might be a reflection of increased awareness among the patients on the importance of registries and clinical research. Taken together, the establishment of the registry and the quick accrual of patient numbers in the registry provide evidence of the capacity for sub-Saharan Africa sites to initiate and lead large prospective SCD studies.

Lessons learned

The development of the SCD registry has imparted several valuable lessons, pivotal for the planning and execution of future disease registries. Having robust infrastructure emerged as a cornerstone of our efforts, underscoring the necessity for a solid technological and organizational foundation to support data integrity, management, and scalability. The infrastructure, which was provided by the NIH-funded African Center of Excellence in Bioinformatics and Data Intensive Sciences, has also supported various technological and infrastructural initiatives, further enhancing research and development capabilities across the continent [ 17 , 27 , 28 , 29 ]. This was complemented by the formation of a multidisciplinary team, bringing together clinicians, software developers, data managers, and policymakers. This diverse collaboration not only facilitated a comprehensive approach to registry development but also ensured that the system was responsive to the needs of all stakeholders, thereby enhancing the utility and applicability of the registry in various research and clinical contexts. Furthermore, leveraging REDcap, an existing database platform – and only making modifications and customizations to its core relational architecture to fit local context, did not only save development resources but also quickened interoperability with other national registries within the consortium.

The approach of starting small and then expanding proved to be instrumental in the registry’s development, allowing for the initial focus on a limited set of data elements and sites. This methodology enabled the team to identify and address issues in a controlled environment, refining data collection processes before scaling up. Such a phased expansion was crucial for maintaining system stability and adaptability, ensuring that the registry could accommodate a growing scope of data and a wider network of participating sites without compromising on data quality or system performance.

The implementation of extensive training programs for all involved parties, especially data entrants, was another critical factor in the registry’s success. Ensuring that individuals were well-versed in the registry’s operations and objectives significantly contributed to the accuracy and reliability of the data collected. Moreover, achieving comprehensive geographical coverage ensured the collection of data that was representative of the entire country, capturing the diversity of SCD manifestations and treatments. This wide-ranging data collection was further enhanced by the inclusion of local language support, making the registry more accessible and inclusive, thus broadening the spectrum of participants and enriching the dataset. Connectivity issues in remote areas hindered consistent data collection, a challenge that was addressed through the adoption of mobile data collection tools that allowed for offline data capture.

The establishment of the SPARCo Uganda registry represents a significant milestone in the realm of SCD research, particularly within the context of resource-limited environments. This endeavor demonstrates the viability of developing comprehensive disease registries in such environments and underscores the imperative of integrating individuals diagnosed with SCD seamlessly into the healthcare system, ensuring they receive the specialized care they need.

The findings from the SPARCo Uganda registry, which are currently being used to facilitate a range of studies, including the analysis of SCD clinical phenotypes, newborn screening, and evaluation of hydroxyurea use, offer a promising direction for SCD management, research, and data-driven approaches in Uganda. They suggest that implementing a nationwide electronic registry for hemoglobinopathies, with patient consent, could revolutionize SCD research and patient care.

Data availability

Data is provided within the manuscript or supplementary information files.

Abbreviations

African Center of Excellence in Bioinformatics and Data sciences

Case Report Form

• Sickle cell disease

Sickle Pan Africa Research Consortium

Sickle Africa Data Coordinating Center

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Acknowledgements

We would like to acknowledge Isaac Birungi, Aisha Nakirya, Nathan Bikala, Jacob Isabirye, Geofrey Ssebagala, Tamuzadde Paul, Stella Nalubega, the data entrants at the four hospitals. The authors would also like to acknowledge the NIH-funded African Center of Excellence in Bioinformatics and Data Science facilities based at the Infectious Diseases Institute at Makerere University who provided the computational infrastructure.

Research reported in this publication was supported by the National Heart, Lung, And Blood Institute of the National Institutes of Health under Award Number U01HL156914. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Authors’ contributionMN: Data analysis, Data Interpretation, Writing-Original draft; HM: Data analysis, Writing-Final draft; DM: Data Interpretation, Writing-Original draft; DJ: Data analysis, Data Interpretation, Writing-Final draft; RN: Data Interpretation, Writing-Original draft; RO: Conception; PK: Conception GN: Data Interpretation; Writing-Final draft GK: Writing-Final draft; EM: Conception; IB: Data Management; HH: Conception; JM: Data Management; MJ: Data Management; VN: Conception; AW: Conception; JM: Conception; SK: Conception, Data Interpretation, Writing-Final draft. All authors read and approved the final manuscript.

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Correspondence to Sarah Kiguli .

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The ethical approval to conduct this study was obtained from Makerere University School of Medicine Research and Ethics Committee (SOMREC) under number Mak-SOMREC-2021-170 and the Uganda National Council of Science and Technology under number HS2012ES. We obtained administrative clearance from all the 4 hospitals to set up the registries. Written informed consent was acquired from each participant, and for patients under 18 years old, their caregivers provided the informed consent. The study was performed in accordance with the ethical standards in the 1964 Declaration of Helsinki.

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Nsubuga, M., Mutegeki, H., Jjingo, D. et al. The Ugandan sickle Pan-African research consortium registry: design, development, and lessons. BMC Med Inform Decis Mak 24 , 212 (2024). https://doi.org/10.1186/s12911-024-02618-9

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Body camera video shows Sonya Massey's final moments before she was fatally shot by a deputy

Authorities released body camera footage Monday of Sonya Massey 's final moments before she was fatally shot by law enforcement at her home in Springfield, Illinois.

Massey, 36, was killed July 6 after she called the Sangamon County Sheriff's Office because she was afraid there might be a prowler outside, according to an attorney for her family and Illinois State Police.

Former Sangamon County Deputy Sean Grayson is accused of shooting Massey in the face after he and another deputy were dispatched to her home shortly before 1 a.m.

Grayson has been indicted on charges of first-degree murder , aggravated battery with a firearm and official misconduct, said Sangamon County State’s Attorney John Milhiser.

Grayson pleaded not guilty last week, according to his lawyer, Dan Fultz, who declined to comment after the body camera footage was released.

In the footage, Grayson and a second deputy can be seen knocking on Massey's door a few times until Massey opens it.

"Please don't hurt me," Massey is heard saying to Grayson. The second deputy was not identified by authorities.

"Why would I hurt you? You called us," Grayson responds.

The deputies tell Massey they checked the area around her house and didn't see anybody, and then ask if she needs help with anything else. Grayson also asks Massey if she's doing OK mentally, to which she answers, "Yes."

"I love ya'll, thank ya'll," Massey says as she's closing her door. The deputies ask her if a black SUV in her driveway with a smashed window is hers, to which she says no and that someone brought it there.

The deputies then go into Massey's house, where they ask her for her name so they "can get out of your hair."

Massey then moves to her stove, where she picks up a pot from a burner. The situation escalates when she moves the pot from the stove.

"Where you goin'?" she asks the deputies.

"Away from your hot, steaming water," Grayson responds.

"I rebuke you in the name of Jesus," she says.

Massey does not approach the deputies with the pot and stays in her kitchen.

"You better f------ not I swear to God I'll f------- shoot you in your f------- face," Grayson says before pulling out his gun.

"OK, I'm sorry!" Massey says as she ducks.

The second deputy also pulls out his gun.

"Drop the f------- pot!" Grayson screams.

Three gunshots are heard as Grayson continues to yell at Massey to drop the pot. Massey cannot be seen from behind the kitchen counter, but video from Grayson's body camera shows that Massey had let go of the pot when she ducked.

The deputies called for emergency personnel.

The second deputy says he's going to get his kit.

"Nah, headshot dude, she's done," Grayson says to him. "You can go get it but that's a headshot."

"Yeah I'm not taking f------- boiling hot water to the f------- head," Grayson continues. "Hey look, it f------- came right to our feet too."

He then goes to get his medical kit, saying, "I mean, there's not much we can do."

"We can at least try and hold the, stop the blood," the second deputy says. He then goes into the kitchen, finds a towel and holds it to Massey. Massey is blurred out in the footage, but a large pool of blood can still be seen near her head, and she can be heard gasping.

When Grayson makes his way back into the home, he asks another deputy who has since entered, "Is there anything we can do for her?" The deputy responds, "No."

"All right, I'm not even going to waste my med stuff then," Grayson says.

The deputy asks Grayson, "Where's the gun?"

"No, she had boiling water and came at me with boiling water," Grayson says.

When Grayson leaves the house, a member of law enforcement standing outside asks him if he's OK.

"Yeah I'm good. This f------- b---- is crazy," he responds and walks to his vehicle shortly afterward.

The second deputy stays with Massey, holding the towel to her head until medical help arrives. Grayson is not seen trying to aid Massey.

Massey was taken to a hospital, where she was declared dead, according to state police.

A use-of-force review conducted by state police found that while Grayson did not attempt to de-escalate the encounter, he was justified in pointing his service weapon at Massey to get her to comply. But it found the shooting was not justified because Grayson advanced toward Massey and put himself in a position where he could have been injured. 

Milhiser, the Sangamon County state's attorney, said in an earlier statement that a review of the state police investigation, including body camera footage, “does not support a finding that Deputy Sean Grayson was justified in his use of deadly force.”

Sangamon County Sheriff Jack Campbell said in a statement last week that Grayson had been fired because it was clear he “did not act as trained or in accordance with our standards.”

In a statement posted Monday to Facebook, Campbell said Massey is dead because of an "unjustifiable and reckless decision" made by Grayson.

"Grayson had other options available that he should have used," Campbell said. "His actions were inexcusable and do not reflect the values or training of our office. He will now face judgment by the criminal justice system and will never again work in law enforcement."

The sheriff went on to say that Massey "needlessly lost her life" and that her family deserves answers.

President Joe Biden also weighed in on the killing on Monday, saying Massey should still be alive and lauding prosecutors for their "swift actions."

Biden said he is "heartbroken" for Massey's children and her family.

"When we call for help, all of us as Americans — regardless of who we are or where we live — should be able to do so without fearing for our lives," the president said. "Sonya’s death at the hands of a responding officer reminds us that all too often Black Americans face fears for their safety in ways many of the rest of us do not."

In a news conference Monday, Ben Crump, the attorney representing Massey's family, contemplated whether race played a role in the deadly shooting.

"That is the lingering question in our community because many of us looked at that video and said, 'If it was a white woman, he would not have done this,'" Crump said.

In a subsequent statement, the lawyer praised a decision to hold the former deputy without bond, describing the move as "another crucial step in the pursuit of justice for Sonya Massey’s family."

Grayson’s next court date is scheduled for Aug. 26.

"We want equal justice for Sonya Massey," Crump said at the news conference. "We said it before: whatever Grayson would be convicted of and sentenced to had it been a white woman is the same thing we want for this Black queen named Sonya Massey."

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Case Reports, Case Series – From Clinical Practice to Evidence-Based Medicine in Graduate Medical Education

Jerry w sayre.

1 Family Medicine, North Florida Regional Medical Center

Hale Z Toklu

2 Graduate Medical Education, North Florida Regional Medical Center

Joseph Mazza

3 Department of Clinical Research, Marshfield Clinic Research Foundation

Steven Yale

4 Internal Medicine, University of Central Florida College of Medicine

Case reports and case series or case study research are descriptive studies that are prepared for illustrating novel, unusual, or atypical features identified in patients in medical practice, and they potentially generate new research questions. They are empirical inquiries or investigations of a patient or a group of patients in a natural, real-world clinical setting. Case study research is a method that focuses on the contextual analysis of a number of events or conditions and their relationships. There is disagreement among physicians on the value of case studies in the medical literature, particularly for educators focused on teaching evidence-based medicine (EBM) for student learners in graduate medical education. Despite their limitations, case study research is a beneficial tool and learning experience in graduate medical education and among novice researchers. The preparation and presentation of case studies can help students and graduate medical education programs evaluate and apply the six American College of Graduate Medical Education (ACGME) competencies in the areas of medical knowledge, patient care, practice-based learning, professionalism, systems-based practice, and communication. A goal in graduate medical education should be to assist residents to expand their critical thinking, problem-solving, and decision-making skills. These attributes are required in the teaching and practice of EBM. In this aspect, case studies provide a platform for developing clinical skills and problem-based learning methods. Hence, graduate medical education programs should encourage, assist, and support residents in the publication of clinical case studies; and clinical teachers should encourage graduate students to publish case reports during their graduate medical education.

Introduction

Case reports and case series or case study research   are descriptive studies to present patients in their natural clinical setting. Case reports, which generally consist of three or fewer patients, are prepared to illustrate features in the practice of medicine and potentially create new research questions that may contribute to the acquisition of additional knowledge in the literature. Case studies involve multiple patients; they are a qualitative research method and include in-depth analyses or experiential inquiries of a person or group in their real-world setting. Case study research focuses on the contextual analysis of several events or conditions and their relationships [ 1 ]. In addition to their teaching value for students and graduate medical education programs, case reports provide a starting point for novice investigators, which may prepare and encourage them to seek more contextual writing experiences for future research investigation. It may also provide senior physicians with clues about emerging epidemics or a recognition of previously unrecognized syndromes. Limitations primarily involve the lack of generalizability and implications in clinical practice, which are factors extraneous to the learning model (Table ​ (Table1 1 ).

There is disagreement among physicians on the value of case reports in the medical literature and in evidence-based medicine (EBM) [ 2 ]. EBM aims to optimize decision-making by using evidence from well-conducted research. Therefore, not all data has the same value as the evidence. The pyramid (Figure ​ (Figure1) 1 ) classifies publications based on their study outlines and according to the power of evidence they provide [ 2 - 3 ]. In the classical pyramid represented below, systematic reviews and a meta-analysis are expected to provide the strongest evidence. However, a recent modification of the pyramid was suggested by Murad et al. [ 2 ]: the meta-analysis and systematic reviews are removed from the pyramid and are suggested to be a lens through which evidence is viewed (Figure 1 ). 

Modified from Murad et al. [ 2 ]

Because case reports do not rank highly in the hierarchy of evidence and are not frequently cited, as they describe the clinical circumstances of single patients, they are seldom published by high-impact medical journals. However, case reports are proposed to have significant educational value because they advance medical knowledge and constitute evidence for EBM. In addition, well-developed publication resources can be difficult to find, especially for medical residents; those that do exist vary in quality and may not be suitable for the aim and scope of the journals. Over the last several years, a number (approximately 160) of new peer-reviewed journals that focus on publishing case reports have emerged. These are mostly open-access journals with considerably high acceptance rates [ 4 ]. Packer et al. reported a 6% publication rate for case reports [ 5 ]; however, they did not disclose the number of papers submitted but rejected and neither did they state whether any of the reported cases were submitted to open-access journals.

The development of open-access journals has created a new venue for students and faculty to publish. In contrast to subscription-based and peer-reviewed e-journals, many of these new case report journals are not adequately reviewed and, instead, have a questionably high acceptance rate [ 4 ]. There, however, remains the issue of the fee-based publication of case reports in open-access journals without proper peer reviews, which increases the burden of scientific literature. Trainees should be made aware of the potential for academic dilution, particularly with some open-access publishers. While case reports with high-quality peer reviews are associated with a relatively low acceptance rate, this rigorous process introduces trainees to the experience and expectations of peer reviews and addresses other issues or flaws not considered prior to submission. We believe that these are important skills that should be emphasized and experienced during training, and authors should seek these journals for the submission of their manuscripts.

Importance of Case Reports and Case Series in Graduate Medical Education

The Accreditation Council for Graduate Medical Education (ACGME) has challenged faculties to adapt teaching methodologies to accommodate the different learning modalities of the next generation of physicians. As evidenced by its implementation by ACGME, competency-based medical education is rapidly gaining international acceptance, moving from classic didactic lectures to self-directed learning opportunities with experiential learning aids in the development of critical cognitive and scholarly skills. As graduate medical educators, we are in agreement with Packer et al. about the value of the educational benefits resulting from student-generated case reports [ 5 ]. Case study assignments help residents develop a variety of key skills, as previously described. EBM is an eventual decision-making process for executing the most appropriate treatment approach by using the tools that are compatible with the national health policy, medical evidence, and the personal factors of physician and patient (Figure ​ (Figure2). The 2 ). The practice of identifying and developing a case study creates a learning opportunity for listening skills and appreciation for the patient’s narrative as well as for developing critical learning and thinking skills that are directly applicable to the practice of EBM. This critically important process simultaneously enhances both the medical and the humanistic importance of physician-patient interaction. In addition, case-based learning is an active learner-centered approach for medical students and residents. It serves as a curricular context, which can promote the retention of information and evidence-based thinking.

Modified from Toklu et al. 2015 [ 3 ]

The value of case studies in the medical literature is controversial among physicians. Despite their limitations, clinical case reports and case series are beneficial tools in graduate medical education. The preparation and presentation of case studies can help students and residents acquire and apply clinical competencies in the areas of medical knowledge, practice-based learning, systems-based practice, professionalism, and communication. In this aspect, case studies provide a tool for developing clinical skills through problem-based learning methods. As a result, journals should encourage the publication of clinical case studies from graduate medical education programs through a commonly applied peer-review process, and clinical teachers should promote medical residents to publish case reports during their graduate medical education.

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