The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA). Here, we report a girl of Chinese ancestry with intrauterine growth restriction, microcephaly, postnatal developmental delay, arthrogryposis, hypertonicity, seizure, and hypomyelination on brain magnetic resonance imaging; biallelic null variants (c.1347C > G [p.Tyr449*]; Chr2 [GRCh37]: g.130877574_131221737del [whole-gene deletion]) were detected by whole-exome sequencing. Our case is the first report of NEDMABA of Chinese ancestry, confirming the involvement of SMPD4 in NEDMABA and expanding the mutation spectrum of this syndrome.
Bioactive peptides attract growing concerns for their participation in multiple biological processes. Their roles in the pathogenesis of type 1 diabetes mellitus remain poorly understood. In this study, we used LC-MS/MS technology to compare the peptide profiling between pancreatic tissue of T1DM mice and pancreatic tissue of matched control groups. A total of 106 peptides were differentially expressed in T1DM pancreatic tissue, including 43 upregulated and 63 downregulated peptides. Most of the precursor proteins are insulin. Further bioinformatics analysis (GO and pathway analysis) indicated that the potential functions of these differential peptides were tightly related to regulation of endoplasmic reticulum stress. In conclusion, this study highlights new candidate peptides and provides a new perspective for exploring T1DM pathogenesis and clinical treatments.
Osteoporosis is usually one of the less perceived complications of chronic illness among children. Previous studies have shown that vitamin D supplementation may be valuable to bone density, especially among children with a deficiency of vitamin D. Yet, the results often remain inconsistent. Therefore, the present study investigates the clinical therapeutic effects of vitamin D supplementation to enhance children with bone mineral density.We will search the randomised controlled experiment literature of vitamin D supplementation for bone mineral density, focusing on children, in 3 distinct English databases (EMBASE, MEDLINE via PubMed, and Cochrane Library) and 2 specific Chinese databases (China National Knowledge Infrastructure (CNKI) and WanFang databases). Additionally, we intend to explore the Clinical Trials.gov, reference lists of identified publication and the grey literature. Accordingly, we will use 2 independent authors to screen the literature, extract data, and research quality assessment. We will carry out all statistical analyses using RevMan 5.3 software.We will systematically evaluate the clinical therapeutic effects of vitamin D supplementation to enhance children with bone mineral density.The present study will summarise the currently published pieces of evidence of vitamin D supplementation for bone mineral density in children to further comprehend its promotion and application.The present study is a systematic review and meta-analysis founded upon existing or published studies; therefore, ethical approval is not applicable.October 24, 2020. osf.io/7vtey. (https://osf.io/7vtey/).
To determine the roles of CD137 in the etiology of nasal polyps by immunohistochemistry.Forty-four samples of nasal polyps and 11 control samples were studied. Forty-four samples were divided into group A and B on the basis of the endoscopic findings, computed tomography and the criterion of chronic sinusitis and nasal polyp classification. The slides were stained with antibody CD137. Positive eosinophils of CD137 in selected samples were observed. All data were analyzed with chi2 test using SPSS10.0 software.Positive CD137 immunostainning show a significant difference between group A and B.Eosinophil and cytokine plays an important role in the mechanism leading to the growth of nasal polyps. The tissue eosinophils of nasal polyps express CD137. The closed relation was shown among the expression of CD137, the tissue eosinophilia and extent of nasal polyps. This result indicates the CD137 expression might limit GM-CSF-mediated and IL-5-mediated antiapoptosis of eosinophils.
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