Medicine
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Meta Analysis
Acute myeloid leukemia treatment outcomes with isocitrate dehydrogenase mutations: A systematic review and meta-analysis.
Isocitrate dehydrogenase (IDH) gene alterations and acute myeloid leukemia (AML) treatment results remain controversial. This study reviews the literature on IDH mutations in AML to determine the foundation of individualized therapy and improve effectiveness, survival time, and recurrence rate. ⋯ Different subtypes of IDH mutations may lead to different AML prognoses, suggesting the feasibility of personalized treatment for AML patients.
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Review Case Reports
Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.
Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease. ⋯ According to literature review, KdVS is a multi-organ disease characterized by feeding difficulties, seizures, characteristic facial features, dysplasia of the respiratory system and cardiac abnormalities. In this study, laryngeal malacia accounted for 23.2% of the clinical manifestations of KdVS patients, limb convulsions/seizures accounted for 62.5%, and cardiac development defects accounted for 23.5%. The disease was rare in China and had a variety of clinical manifestations. The summary of reported cases can enable doctors to have more understanding of the disease. The new mutations enrich the KANSL1 gene mutation spectrum.
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Gliomas are tumors arising in the central nervous system, frequently associated with Class I mutations and BRAF fusions. These mutations are adverse prognostic factors in juvenile gliomas, leading to high rates of recurrence and poor response to current treatments. The blood-brain barrier and the heterogeneity of gliomas complicate the development of a single treatment strategy for all cases. ⋯ However, challenges remain in managing side effects such as fever, headache, lethargy, and rash. Further research into resistance mechanisms and long-term effects is necessary to optimize treatment strategies. Other therapies, such as everolimus and Selumetinib, also show potential and warrant further investigation.
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Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is a group of life-threatening autoimmune small vessel vasculitis and the prognosis depends heavily on whether a prompt diagnosis is achieved. Autoimmune thyroiditis is the most common autoimmune endocrine disease and could overlap with other autoimmune diseases. It remains elusive whether autoimmune thyroiditis affects the risk of AAV development. ⋯ Mendelian randomization-Egger and the weighted median method were used to confirm the results. We found a causal association between Hashimoto thyroiditis and MPA while no causal effect of Grave disease on MPA. This study contributed a genetic viewpoint to the understanding of the link between autoimmune thyroiditis and AAV.
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Review
Resilience: A panacea for burnout in medical students during clinical training?: A narrative review.
Clinical rotations or clerkships are a necessary part of medical education but are associated with significant psychiatric morbidity, including burnout and psychological distress. This review aims to explore the role of resilience as a protective factor and assess the effectiveness of resilience-building interventions. We conducted a narrative review using the Medline database via PubMed. ⋯ Interventions such as psychological workshops and curriculum changes showed mixed results, with competence-based approaches showing the most promise for long-term benefits. Resilience is a critical target for improving medical students' psychological health and reducing burnout during clinical training. Future interventions should focus on combining psychological support with competence-based training to equip students for the challenges ahead.