BLK

Systemic sclerosis (SSc) is a rare systemic autoimmune disease characterized by skin and organ fibrosis. The pathogenesis of SSc and its progression are poorly understood. The SSc intrinsic gene expression subsets (inflammatory, fibroproliferative, normal-like, and limited) are observed in multiple clinical cohorts of patients with SSc. Analysis of longitudinal skin biopsies suggests that a patient's subset assignment is stable over 6-12 months. Genetically, SSc is multi-factorial with many genetic risk loci for SSc generally and for specific clinical manifestations. Here we identify the genes consistently associated with the intrinsic subsets across three independent cohorts, show the relationship between these genes using a gene-gene interaction network, and place the genetic risk loci in the context of the intrinsic subsets. To identify gene expression modules common to three independent datasets from three different clinical centers, we developed a consensus clustering procedure based on mutual information of partitions, an information theory concept, and performed a meta-analysis of these genome-wide gene expression datasets. We created a gene-gene interaction network of the conserved molecular features across the intrinsic subsets and analyzed their connections with SSc-associated genetic polymorphisms. The network is composed of distinct, but interconnected, components related to interferon activation, M2 macrophages, adaptive immunity, extracellular matrix remodeling, and cell proliferation. The network shows extensive connections between the inflammatory-and fibroproliferative-specific genes. The network also shows connections between these subset-specific genes and 30 SSc-associated polymorphic genes including STAT4, BLK, IRF7, NOTCH4, PLAUR, CSK, IRAK1, and several human leukocyte antigen (HLA) genes. Our analyses suggest that the gene expression changes underlying the SSc subsets may be long-lived, but mechanistically interconnected and related to a patients underlying genetic risk.

Aims/hypothesis MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to MODY and tested the effect of BLK-p.A71T on type 2 diabetes risk and variations in related traits. Methods BLK was sequenced in 64 unelucidated MODY samples. The BLK-p.A71T variant was genotyped in a Electronic supplementary material The online version of this article

Common Variable Immunodeficiency (CVID) is the most prevalent primary antibody deficiency, and characterized by defective generation of high-affinity antibodies. Patients have therefore increased risk to recurrent infections of the respiratory and intestinal tract. Development of high-affinity antigen-specific antibodies involves two key actions of B-cell receptors (BCR): transmembrane signaling through BCR-complexes to induce B-cell differentiation and proliferation, and BCR-mediated antigen internalization for class-II MHC-mediated presentation to acquire antigen-specific CD4+ T-cell help.We identified a variant (L3P) in the B-lymphoid tyrosine kinase (BLK) gene of 2 related CVID-patients, which was absent in healthy relatives. BLK belongs to the Src-kinases family and involved in BCR-signaling. Here, we sought to clarify BLK function in healthy human B-cells and its association to CVID.BLK expression was comparable in patient and healthy B-cells. Functional analysis of L3P-BLK sh...

Setiap wanita akan mengalami menopause dalam siklus kehidupannya. Perubahan yang mencolok dalam masa menopause terlihat pada perubahan fisik dan perubahan psikis.Sekitar 70-80% wanita Eropa, 60% di Amerika, 57% di Malaysia, 18% di Cinadan 10% diJepang dan Indonesia mengalami sindrom menopause. Wanita Indonesia yang memasukimasa menopause pada tahun 2002 sebanyak 7,4% dari populasi. Tujuan penelitian ini untukmengetahui tingkat pendidikan dan tingkat pengetahun ibu lanjut tentang perubahan fisik saatmenopause. Penelitian ini bersifat deskriptif peneliti menyajikan gambaran tingkat pendidikan dantingkat pengetahuan ibu usia lanjut tentang perubahan fisik saat menopause, sampel sebanyak93 ibu dan teknik pengambilan sampel total sampling, alat pengumpulan data yang digunakandalam penelitian ini berupa kuisoner dan lembar checklist dengan mengunakan data primer.Hasil penelitian didapatkan bahwa tingkat pendidikan dan tingkat pengetahuan ibu usia lanjuttentang perubahan fisik saat menopau...

Family Centered Care is family care carried out on an approach to health care. Job satisfaction is the result of employees' perceptions of the extent to which their work can provide an emotional state. Nurse work stress caused by workload can lead to work dissatisfaction with nurses, if viewed from a work environment that makes nurses feel uncomfortable at work, because some of the patient's parents refuse to be invited to cooperate in caring for patients, their parents assume that it is not his job but the work of a nurse. The purpose of this study was to determine the relationship of the Family Centered Care approach in pediatric patients with nurse job satisfaction in the rose care room of RSUD. H. A. Sulthan Daeng Radja of Bulukumba Regency in 2019. The research design used a cross sectional design. The population in this study were all child patient nurses, amounting to 52 people in the rose hospital care room. H. A. Sulthan Daeng Radja of Bulukumba Regency with a sampl...

Pada hasil penelitian ini diperoleh sebanyak 345 (90,3%) orang memiliki stigma positif dengan rincian 303 orang berpengetahuan cukup, 36 orang berpengetahuan baik dan 6 orang lainnya berpengetahuan kurang. Setelah dilakukan analisis Spearman’s rho menunjukkan terdapat hubungan yang signifikan pengetahuan terhadap stigma masyarakat pada penderita COVID-19 di Kelurahan Caile Kecamatan Ujung bulu Kabupaten Bulukumba Tahun 2021. Untuk mengoptimalkan stigma positif masyarakat pada penderita COVID-19, diharapkan pihak terkait dapat memberikan informasi yang tepat kepada masyarakat sehingga dapat meningkatkan pengetahuan masyarakat menjadi lebih baik dan menekan pandangan buruk masyarakat terkait orang yang terinfeksi COVID-19