Medicine
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Behcet disease is an autoimmune vasculitis, involving multiple systems and organs. It is often chronic and recurrent, and involves all levels of arteries and veins. ⋯ It cautions ophthalmologists of the high possibility of vasculitis in young and middle-aged patients with retinal vascular occlusion. It also reminds the ophthalmologists investigate systemic diseases, and obtain detailed medical history, not just depending on specific laboratory findings. This case further suggests that Behcet disease has diverse manifestations, complex diagnosis, and severe lesions, and the recurrence rate must be controlled to minimize irreversible consequences such as sudden vision loss during recurrence.
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Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly, especially at an early stage. Thus it is important to clarify the diagnosis for prognostic implications, patient management, and genetic counseling. ⋯ Our finding will further enlarge LAMB3 genotype-phenotype correlations spectrum. Targeted capture sequencing is a valuable method to illustrate precise molecular pathology in patients with EB disorders, especially at an early stage of the clinical evaluation of complex disorders to avoid unnecessary and economically wasteful tests.
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Case Reports
Familial intracranial arachnoid cysts with a missense mutation (c.2576C > T) in RERE: A case report.
Arachnoid cysts are relatively common intracranial space-occupying lesions; nevertheless, familial intracranial arachnoid cysts are extremely rare, with only a few cases having been reported. ⋯ We hypothesize that the mutation in RERE may be associated with the pathogenesis of familial intracranial arachnoid cysts.
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Dravet syndrome is considered to be one of the most severe types of genetic epilepsy. Mutations in SCN1A gene have been found to be responsible for at least 80% of patients with Dravet syndrome, and 90% of these mutations arise de novo. The variable clinical phenotype is commonly observed among these patients with SCN1A mutations, suggesting that genetic modifiers may influence the phenotypic expression of Dravet syndrome. ⋯ These data suggested that SCN1A variants account for about 84.6% of Dravet syndrome in our cohort. This study expanded the mutational spectrum for the SCN1A gene, and also provided clinical and genetic evidence for the hypothesis that genetic modifiers may contribute to the variable manifestation of Dravet syndrome patients with SCN1A mutations. Thus, targeted-exome sequencing will make it possible to detect the interactions of epilepsy-related genes and reveal their modification on the severity of SCN1A mutation-related Dravet syndrome.
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Lactococcus lactis and Pediococcus pentosaceus are rare pathogens which rarely caused infections in humans. Several cases with L. lactis endocarditis have been reported in the literature, among them few were caused by L. lactis subsp. Lactis. Opportunistic P. pentosaceus infections were rarely reported. ⋯ Our patient had a long-period of antibiotic treatment with strategy alterations. Standard interpretation criteria of Clinical and Laboratory Standards Institute (CLSI) for L. lactis should be established, and molecular tests will increase the identification rate of L. lactis infections.