Search

We report the case of a 29-year-old adult presenting with severe IgA vasculitis, with cutaneous, urologic, and renal manifestations. The late appearance of severe gastrointestinal bleeding dominated the clinical picture, necessitating the administration of tens of units of packed cells and the augmentation of the immunosuppressive protocol. It was not until therapy with intravenous immunoglobulin (IVIG) was introduced that the massive bleeding was controlled. We herein discuss the patient's presentation, the gastrointestinal manifestations of IgA vasculitis, the recommended treatments, and the existent evidence about IVIG therapy. [ABSTRACT FROM AUTHOR]

Background: There are fewer multiple sclerosis (MS) relapses during pregnancy, although relapse risk increases in the early post-partum period, as has been predicted by pre-pregnancy or pregnancy disease activity in some studies. Objective: The aim of this study was to evaluate the correlation between magnetic resonance imaging (MRI) changes in the year before pregnancy and the relapse rate in the year post-partum. Methods: An observational retrospective case–control study included 172 pregnancies in 118 females with MS. Statistical analyses were used to evaluate the correlation between MRI and post-partum relapses. Clustered logistic regression was used to investigate the predictors of early post-partum relapses. Results: We found a significant correlation for an active-MRI pre-pregnancy and relapses in the first 3 months post-partum (p < 0.001). Expanded Disability Status Scale (EDSS) pre-pregnancy and relapses in the first 3 months post-partum were also significantly correlated (p = 0.009). Using a multivariate model, we predicted which women will not experience post-partum relapse by EDSS and by an active-MRI pre-pregnancy (96.7% specificity; p < 0.001). Conclusion: An active-MRI pre-pregnancy is a strong and sensitive predictor of early post-partum relapse, regardless of whether the woman had clinical evidence of disease activity prior to conception and delivery. This finding could provide clinicians with a strategy to minimize post-partum relapse risk in women with MS planning pregnancy. [ABSTRACT FROM AUTHOR]

Summary De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single cells, including >160 neurons from three normal and two pathological human brains, sensitively identified germline trisomy of chromosome 18 but found most (≥95%) neurons in normal brain tissue to be euploid. Analysis of a patient with hemimegalencephaly (HMG) due to a somatic CNV of chromosome 1q found unexpected tetrasomy 1q in ∼20% of neurons, suggesting that CNVs in a minority of cells can cause widespread brain dysfunction. Single-cell analysis identified large (>1 Mb) clonal CNVs in lymphoblasts and in single neurons from normal human brain tissue, suggesting that some CNVs occur during neurogenesis. Many neurons contained one or more large candidate private CNVs, including one at chromosome 15q13.2-13.3, a site of duplication in neuropsychiatric conditions. Large private and clonal somatic CNVs occur in normal and diseased human brains. [ABSTRACT FROM AUTHOR]