Medicine
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A dural arteriovenous fistula (DAVF) refers to an abnormal direct connection between an intracranial artery and a dural venous sinus. A DAVF presenting with parkinsonism is rare, and is therefore easily misdiagnosed. Therefore, early consideration of DAVF in the differential diagnosis of reversible parkinsonism is necessary. ⋯ DAVF should always be considered as a potential cause of progressive parkinsonism on account of its potential reversibility. Our case suggests a concomitant role of basal ganglia degeneration and frontal white matter hypoperfusion in the pathology of parkinsonism due to DAVF. However, the precise pathophysiology remains to be investigated.
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Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." ⋯ This is the first report of 2 rRNA mutations in a patient with MRI findings showing global brain atrophy, particularly in brainstem and cerebellum areas. Early recognition and appropriate treatment is crucial. This case highlights the cerebellar ataxia can occur in CPEO plus.
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Observational Study
Should Roux-en-Y gastric bypass biliopancreatic limb length be tailored to achieve improved diabetes outcomes?
The objective is to access the role of Roux-en-Y gastric bypass (RYGB) biliopancreatic limb (BPL) length in type 2 diabetes (T2D) outcomes. RYGB is more effective than medical intervention for T2D treatment in obese patients. Despite the scarcity of available data, previous reports suggest that modifications of the RYGB limb lengths could improve the antidiabetic effects of the surgery. ⋯ RYGB with a longer BPL improves %EBMIL, T2D remission, and glycemic control in those with persistent disease, while it decreases diabetes relapse rate over time. The antidiabetic effects of LBPL RYGB also are less influenced by the preoperative disease duration. These data suggest the RYGB procedure could be tailored to improve T2D outcomes.
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Glucocorticoids are the primary anti-inflammatory therapy for asthma, but their effects are characterized by some interindividual variability that might have a genetic basis. We aimed to determine the relationship between pulmonary function change and the variant of the glucocorticoid-induced transcript 1 (GLCCI1) gene in patients with asthma receiving long-term ICS treatment, the association of GLCCI1 genotypes and the level of GLCCI1 expression and cytokines production. A total of 418 patients with asthma, including 25 individuals from 11 families with a history of asthma, were enrolled. ⋯ When patients were stratified according to genotype, GLCCI1 expression was enhanced upon administration of low-dose dexamethasone among patients with the rs37973 A allele; however, GG homozygotes required high-dose dexamethasone to achieve enhanced GLCCI1 expression. Furthermore, the levels of some cytokines were significantly reduced after glucocorticoid treatment in individuals with the AA and AG genotypes. The genetic variant rs37973 in GLCCI1 is associated with poorer clinical therapeutic response to inhaled glucocorticoids in a Chinese asthma population.
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Cases of severe disopyramide poisoning are rare and few have been reported. We report a case in which activated-charcoal column hemoperfusion was dramatically effective for life-threatening disopyramide poisoning. ⋯ Because disopyramide has low molecular weight and a small distribution volume, blood purification is considered to be the most effective therapy. We selected direct hemoperfusion for relatively high protein-binding rate. In fact, clinical status was dramatically improved, and the calculated half-life of the direct hemoperfusion phase was the shortest of all phases. In cases of severe or life-threatening disopyramide poisoning, blood purification therapy including direct hemoperfusion using a coated activated-charcoal column should be performed.