Results 61 to 70 of about 131,131 (300)
Autoantibodies against complement C1q in systemic lupus erythemathosus [PDF]
Complement and C1q, the first component of the classical pathway of activation of the complement system, are considered to be involved in the pathogenesis of systemic lupus erythematosus (SLE), a systemic autoimmune disease.
Bigler, Cornelia
core +1 more source
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó +84 more
wiley +1 more source
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Alport Syndrome (AS) is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular ...
Hilal Uslu Toygar +5 more
doaj +1 more source
Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies [PDF]
Includes bibliographical references.Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa.
Holm, Hannes
core +1 more source
X-linked IgA nephropathy plus Alport syndrome: one case report
临床资料患儿,女,6岁8个月,因"反复颜面部、双下肢水肿4个月,咳嗽3 d"于2018年10月30日入院。患儿4个月前无明显诱因出现眼睑水肿,无尿频、尿急、肉眼血尿,无皮疹、口腔溃疡、光过敏、脱发,无腹痛、关节疼痛,曾在外院诊断"肾病综合征"予泼尼松治疗可达部分缓解,家属依从性差,出院后自行停药改中药调理,病情仍反复。个人史、既往史无特殊,父母及同胞弟弟正常,祖父祖母40余岁不明疾病去世。入院量血压120~90/60~80 mmHg(1 mmHg=0.133kPa),
Liu Ya-qing, Zhou Yan-qing, Xiao Xue-qin
doaj
Objective Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Patients with lupus and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu +2 more
wiley +1 more source
The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe) : background and methodology [PDF]
Background: Hereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers.
Beusterien, Kathleen +17 more
core +2 more sources
Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki +8 more
wiley +1 more source

