Medicine
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Dilated cardiomyopathy (DCM) is characterized by ventricular dilation and poor systolic function. Approximately half of idiopathic DCM cases are assigned to genetic causes in familial or apparently sporadic cases, and more than 50 genes are reported to cause DCM. However, genetic basis of most DCM patients still keeps unknown and require further study. ⋯ Bioinformatic analysis predicted p. G218R mutation as deleterious and pathogenic damaging in DCM patients. Our results reported a potential pathogenic mutation associated with DCM, which may provide further insight into genetic contributions of LAMA4 gene mutations to DCM phenotypes.
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Case Reports
Primary intracranial neuroendocrine tumor at the sphenoid ridge with metastasis to the spinal cord: A case report.
Neuroendocrine tumors (NETs) originate from neuroendocrine cells and they are depicted with both nerve cells as well as hormone-producing cells. These tumors were initially discovered in extracranial locations and central nervous system involvement is often a result of metastasis. Herein, we present a very rare case of primary intracranial neuroendocrine tumor (PINET) that masqueraded as meningioma at the sphenoid ridge with metastasis to the spinal cord in a patient without a known history of extracranial NET at the time of diagnosis. ⋯ PINET may be capable of metastasizing to spinal cord.
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Case Reports
Undiagnosed mirror syndrome with maternal hypoxemia onset during an emergency cesarean section: A case report.
Mirror syndrome is a rare pregnancy condition in which maternal edema is associated with fetal hydrops. Because of its rarity and overlapping symptoms, this condition is often misdiagnosed as another pregnancy complication. ⋯ This case reports on Miller syndrome with maternal hypoxemia onset during an emergency cesarean section and highlights the potential for better perioperative management and improvement in maternal mortality through prompt diagnosis and appropriate treatment shared not only among obstetricians and pediatricians but also among anesthesiologists.
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Epstein-Barr virus (EBV) is a B-lymphotropic double-stranded DNA virus. Most people infected with EBV are asymptomatic infection. Its clinical symptoms are rarely manifested as EBV encephalitis, and peripheral nerve damage is even rarer. ⋯ In patients with signs of encephalitis, cerebrospinal fluid NGS should be used as early as possible to confirm the diagnosis of EBV encephalitis. Timely and accurate treatment of central nervous system infections is expected to reduce the mortality rate and improve the quality of life of patients in later stages.
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Predictive biomarkers can be effective in the identification of the oral leukoplakia with an increased probability of malignant transformation. ⋯ The connection between miRNA expression changes, the increase in glutathione-S-transferase and especially the decrease in superoxide dismutase activities in patients with white lesion potential malignant transformation using the provided statistical analysis was confirmed.