Fournier's gangrene (FG) is a perineal and abdominal necrotizing infection. It is most commonly found in middle-aged men with comorbidities such as diabetes mellitus. Initial symptoms are often ...indistinct and can rapidly progress to overwhelming infections with a relatively high mortality rate. It is crucial to make a prompt diagnosis so that the patient receives appropriate treatment. Given the importance of the identification of FG, we explored what were the most common signs and symptoms associated with FG, as well as distinguished the gold standard treatment. This systematic review utilized articles identified exclusively through PubMed using key terms such as Fournier's gangrene, signs, symptoms, and treatment. A total of 37 studies, including a total of 3,224 patients (3,093 males and 131 females), fit our inclusion parameters for relevance that included either the most identifiable presentation of FG or the most effective treatment. From our search, the most common clinical presentation was scrotal and labial pain, fever, abscesses, crepitus, erythema, and cellulitis. Diagnosis is made from clinical findings in conjunction with imaging. The gold standard for treatment was found to be a combination of surgical debridement, broad-spectrum antibiotics, and the administration of intravenous fluids. Further, patient survival was found to be directly related to the time from diagnosis to treatment when they underwent surgical debridement. The importance of early identification for improved outcomes or survival highlights the need for further studies or measures to enhance the identification of the signs and symptoms of FG.
The cadaver donor can be utilized for displaying anatomical structures, pathological processes, medical devices encountered and surgical intervention. In an integrative curriculum the cadaver donor ...serves as a vehiculum to facilitate discussion on a wide variety of topics.
A case of a femoro-femoral bypass (FFB), with stents in the common and external iliac arteries in aortoiliac obstructive disease, is functioning as a model for integrating many of the basic science knowledge by showing the extent of arteriosclerosis and providing additional notes that can be used for stimulating discussion among medical students.
The provided set of notes should be interpreted as one of many examples that can be construed depending on for instance subjects to cover and level of difficulty when presenting this case.
Donor cadavers have proven to be an indispensable resource for instructing anatomy to medical students and health care providers. Each one holds enigmas that a physician may have overlooked prior to death of the patient. This case shows a femoro-femoral bypass with multiple intra-arterial stents. Upon further investigation, extensive arteriosclerosis was found throughout most medium to large arteries, with stents and patches maintaining vascularization. Removal of the entire aorto-iliacfemoral arterial tree provided a rare and detailed view of this condition, available through 3D scanning and photogrammetry for future review. This case prompts further discussion towards aspects covered in an integrated system-based curriculum, and notes provided in the appendix serve as examples.
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•Whole-body dissection may reveal unknown pathology to anatomists which can further educate students.•A femoro-femoral bypass and arterial stents are means to restore aortoiliac flow.•Stents provide a passage-way for stenosed blood vessels, and are also utilized in urology, gastroenterology and neurology.•Photogrammetry is an imaging modality to add 3D to a 2D article.•Donor cadavers are a useful source for the knowledge-attitude-behavior model in an integrative curriculum.
Background
SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants ...cause a spectrum of clinical manifestations, from early onset parkinsonism to developmental and epileptic encephalopathy.
Methods
Proband‐only exome sequencing was used to identify a homozygous SYNJ1 pathogenic variant in an individual with epileptic encephalopathy. Sanger sequencing was used to confirm the variant.
Results
We present an Afro‐Caribbean female who developed uncontrollable seizures shortly after birth, accompanied by developmental delay and severe generalized dystonia. She had homozygosity for a novel c.242‐2A > G variant in SYNJ1 with both parents being heterozygous carriers. An older sister was reported to have had a similar presentation but was not examined. Both siblings died at an approximate age of 16 years.
Conclusions
We report a novel pathogenic variant in SYNJ1 present in homozygosity leading to developmental and epileptic encephalopathy. Currently, there are only 4 reports describing 10 individuals with SYNJ1‐related developmental and epileptic encephalopathy. This case expands the clinical knowledge and the allelic heterogeneity associated with SYNJ1 variants.
We present an individual with developmental and epileptic encephalopathy due to homozygosity for a novel SYNJ1 pathogenic c.242‐2A>G variant. The SYNJ1 protein functions to regulate synaptic vesicle recycling in neurons. Very few papers describing SYNJ1 variants are in the medical literature.
A cricothyroidotomy is a procedure which creates a laryngeal opening. Medical students are told that this procedure is without major complications and simple to perform; however, professionals who ...have witnessed a laryngotomy include considerable hemorrhage and issues locating the correct insertion site in procedure preparation. Various laryngeal devices were analyzed, and determination of superiority was based on ease and success of insertion.
Our study was limited to 30 healthcare professional volunteers and 3 devices: a scalpel, steak knife, and percutaneous cricothyroidotomy key-ring device (PCKD). Their task was to perform a laryngotomy within a set time period on a cadaver. ‘Success or failure’ was determined through dissection at a later date.
Among 30 volunteers, 21 successfully accessed the larynx. Success was highest with the steak knife and lowest with the PCKD, revealing device familiarity may be influential. Participants with previous clinical experience also had higher success, indicating practical experience may play a role in addition to anatomical knowledge.
Cricothyroidotomy is a procedure mentioned in medical school, where theoretical knowledge is readily taught. Yet those who are deemed familiar with the anatomy is not reassuring. This presses the importance of medical curriculums implementing practical training, while simultaneously teaching the underlying anatomy and physiology.
This study was approved by the St. George's University IRB, No. 06014.
•Cricothyroidotomy is known for its practical simplicity in emergency airway access.•It is widely taught theoretically in the basic science years of medical school.•Procedural failures on cadavers were observed in many healthcare professionals.•Familiarity with the tools and the degree of the training affect performance.•Implementation of practical training during medical education is critical.
Background
Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and ...intellectual disability of varying severity.
Methods
Via an international collaborative effort, we obtained a cytogenetic diagnosis for a 5‐year‐old boy of Afro‐Caribbean ancestry who has global developmental delay, dysmorphology, hypotonia, feeding difficulties, bilateral club feet, and intellectual disability.
Results
Conventional G‐banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 18. SNP microarray confirmed the loss of ~6.4 Mb from chromosome 18q: arrhg19 18q22.3‐q23(71,518,518‐77,943,115)x1. The source of the additional chromatin was determined from the microarray to be ~32 Mb from the short arm of chromosome 5 (arrhg19 5p13.3‐p15.33(51,045‐32,062,984)x3). The unbalanced translocation was verified by fluorescent in situ hybridization (FISH). Both parents are healthy and have normal karyotypes suggesting that this abnormality arose de novo in the proband, although gonadal mosaicism in a parent cannot be excluded.
Conclusion
The combination of clinical features in this individual is most likely due to the partial deletion of 18q and partial duplication of 5p, which to our knowledge has not been previously described.
We describe a 5‐year‐old boy who has global developmental delay, dysmorphology, and multiple congenital abnormalities. Karyotype showed additional chromatin on chromosome 18q. Microarray showed an approximate 32 Mb duplication of material from chromosome 5p (partial trisomy), and an approximate 6.2 Mb deletion from chromosome 18q (partial monosomy). FISH confirmed the unbalanced translocation.
The cover image is based on the Clinical Report A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual by Mary Maj et al., ...https://doi.org/10.1002/mgg3.2064
Image Credit: Used with permission, Sarah Gluschitz, St. George’s University, Department of Anatomical Sciences
The cover image is based on the Clinical Report A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay by Giavanna Verdi et al.,
...https://doi.org/10.1002/mgg3.1900
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