Curēus
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Case Reports
An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene.
Fabry disease (FD) is one of the most common lysosomal storage disorders and is caused by an X-linked progressive inborn error of metabolism in the alpha-galactosidase A (α-Gal A) gene. This leads to intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), throughout the body. The impact of this accumulation is seen across multiple cell lines and therefore can cause multisystem organ dysfunction. ⋯ Further measurement of α-Gal A leukocyte activity showed low levels, which was diagnostic for FD. The index patient had an unusual non-classic phenotype in that his sole presenting symptom was asymptomatic LVH, he presented early, and had low α-Gal A leukocyte activity. Early detection and prompt treatment with enzyme replacement therapy can improve outcomes and decrease mortality. In the absence of known risk factors, non-classical FD should be strongly considered in patients with unexplained LVH and a family history of sudden cardiac death at a young age.
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The Recovery of Equipment for Capacity building OVERseas (RECOVER) initiative at Rutgers New Jersey Medical School involves collection and donation of clean and unused medical supplies that would otherwise be discarded to those desperately in need of those supplies abroad. RECOVER has recently responded to the aftermath of the Ebola crisis and the even more recent mudslide natural disaster in Freetown, Sierra Leone, which had resulted in a considerable diminishing of the local medical supplies. The goal of this study was to assess the match between donated supplies and local needs by using a post-donation survey. ⋯ At first glance, our donations appear usable and appropriate for the recipients. We hope to provide a framework for an objective measure of need for hospitals in other low-income countries, using the Freetown post-Ebola crisis as a pilot for the assessment of medical supply donations and the longitudinal impact it can have on global health and surgery overseas. More studies are required to further explore the possible implications of our program including those relating to medical waste management and environmental considerations when donating and shipping disposable supplies to a developing country.
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Objectives To identify the etiology of non-cystic fibrosis bronchiectasis (NCFB), to assess the clinical presentation, radiological findings, and microbiological profile of patients presenting with a diagnosis of bronchiectasis in a tertiary care center of Pakistan. Methods This was a prospective observational cohort study where patients with a diagnosis of bronchiectasis proven by high-resolution computed tomography (HRCT) were evaluated for etiology, clinical characteristics, microbiology, radiology, spirometric profile, and in-hospital outcomes. Results During the study period, 196 patients were diagnosed with NCFB. ⋯ During hospitalization seven patients (3.6%) were died because of respiratory failure. Conclusions Post TB bronchiectasis was the leading cause of non-cystic fibrosis (CF) bronchiectasis in this cohort, with Pseudomonas was the commonest pathogen isolated from the respiratory specimen, which was significantly associated with respiratory failure. On spirometry, obstructive impairment was found in the majority of patients and hemoptysis was the most frequent complication.
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Introduction Academic medicine is notorious for being "male-dominated." We hypothesized that there were significant and quantifiable levels of gender disparity in academic orthopedic surgery, and this article attempts to quantify the extent of the existing disparity. Also, we examined the research productivity of academic faculty in orthopedic surgery and its correlation with academic ranks and leadership positions. Methods Our study design was cross-sectional in nature. ⋯ There were no significant differences in H-index between men and women for departmental leadership positions. Conclusion Women were underrepresented in number, rank, and academic productivity (H-index). We offer possible factors that may have contributed to this finding as well as potential solutions.
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Background Weight estimation during medical emergencies in children is essential, but fraught with errors if the wrong techniques are used, which may result in critical drug dosing errors. Individualised weight estimation is required to allow for accurate dosing in underweight and obese children in particular. This study was designed to evaluate the associations between weight estimations from different systems and body composition in order to establish how and why they may perform well or poorly. ⋯ It predicted TBW poorly in underweight and obese children, however, because of the poor relationship between length and fat mass. The Mercy Method's performance was unrelated to body composition, but estimated TBW reasonably well and could not predict IBW or FFM. The PAWPER XL Tape's performance was the most closely associated with body composition and, therefore, achieved an acceptable accuracy for estimations of TBW, IBW, and FFM. Conclusions Of the systems evaluated, the PAWPER XL Tape has the best association with body composition and the most accurate estimations of TBW, IBW, and FFM.