Medicine
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Case Reports
Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.
The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the OPHN1 gene. ⋯ Our findings emphasize the utility of the MLPA analysis to identify deletions in the OPHN1 gene responsible for syndromic XLID. Therefore, we suggest that MLPA analysis should be performed as an alternative diagnostic test for all patients with a mild intellectual disability associated or not with behavioral disturbances, facial dysmorphism, and brain anomalies.
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Observational Study
Effect of renal dialysis on mortality and complications following hip fracture surgery in elderly patients: A population based retrospective cohort study.
Hip fractures in older patients requiring dialysis are associated with high mortality. The primary aim of this study was to evaluate the specific burden of dialysis on 30-day mortality following hip fracture surgery. The secondary aim was to determine the burden of dialysis on overall survival as well as several postoperative complications. ⋯ These findings suggest that caution in the perioperative period is required in dialysis patients undergoing hip fracture surgery. The results of our study represent only an association between dialysis and mortality. Further studies are necessary to investigate the possible causal effect of dialysis on mortality and complications after hip fracture surgery.
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As the major complications post allogeneic hematopoietic stem cell transplantation (allo-HSCT), gastrointestinal disorders were most commonly ascribed to acute graft-versus-host disease (aGVHD) and opportunistic infections. Though Giardia lamblia (G lamblia) is the most common waterborne parasite of intestinal infection worldwide, seldom has it been reported in a patient with acute severe aplastic anemia after allo-HSCT. ⋯ Incorporating non-invasive monitoring of stool examination for ova and parasites in the follow-up algorithm for post-HSCT patients can expedite clinical decision-making in the differential diagnoses for aGVHD even in the non-endemic area. Metronidazole therapy can be well-tolerated in HSCT patients with giardiasis.
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Case Reports
A maxillary center incisor with three independent roots and three root canals: A case report.
Three root canals (mesiobuccal, distobuccal and palatal) are rarely found (frequency <1%) in the maxillary central incisor even though root canal morphology in maxillary premolars is highly variable. Therefore, research papers showed that dentists can easily miss the root canals in diagnosis and inflammatory diffusion; which could cause unsuccessful root canal treatment leading to various possible infections and no change in original inflammations. In this report, the diagnose and clinical management of an unusual case of a maxillary center incisor with three independent roots and three root canals is presented, along with a demonstration of using CBCT (Cone Beam Computed Tomography) and collaborate with other departments to successfully accomplish an accurate diagnosis of the morphology and quantity of the root canal system. ⋯ From this clinical case, the lesson learned is that the previous clinical experiences cannot be used to make judgments or decisions; it requires specific analysis from the information gathered through CBCT(Cone Beam Computed Tomography)and the cooperation between different departments to come up with a responsible decision. In any stomatological hospitals, due to the large number of departments and the strong specialized focuses for each department; it is very important to encourage and support the cooperation between the departments, to limit any judgment bias due to lack of knowledge and maximize each department's strengths.
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Observational Study
The Risks of Exfoliative Esophagitis in Patients with Atrial Fibrillation: A retrospective observational study.
The aging of the population has resulted in atrial fibrillation (AF) becoming increasingly prevalent. Treatment focuses on the prevention of thromboembolism through the use of catheter ablation or drug therapy with anticoagulants, such as warfarin or direct oral anticoagulants (DOACs). Dabigatran-induced exfoliative esophagitis has been reported as a rare side effect of DOACs. ⋯ In terms of current medications, patients receiving oral dabigatran showed the highest prevalence of exfoliative esophagitis at 8.8% (13/148). The adjusted odds ratio of dabigatran for exfoliative esophagitis was 10.3 by multivariable logistic regression analysis. Obesity and oral dabigatran were found to be significant risk factors for exfoliative esophagitis.