Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.

Background: Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic alkalosis and hypomagnesemia, due to biallelic pathogenic variants in the solute carrier family 12 member 3 (SLC12A3) gene encoding a sodium-chloride (Na-Cl) cotransporter (NCC). This work aimed at identifying SLC12A3 variants in the GS pedigree and reveal the effect of the mutations on protein structure and function.

Methods: Whole-exome sequencing (WES) and Sanger sequencing were performed in the pedigree.

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.

Background: Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3-5 chains of type IV collagen in the glomerular basement membrane. AS has three genetic models: X-linked, autosomal recessive, and autosomal dominant.

EGFR co-mutation is associated with the risk of recurrence in invasive lung adenocarcinoma with the micropapillary component.

Background: Invasive lung adenocarcinoma (LUAD) patients with the micropapillary (MPP) component tend to have extremely poor prognosis. To optimize clinical outcomes, a better understanding of specific concurrent gene alterations and their impact on the prognosis of patients with the MPP component is necessary.

Method: A total of 621 Chinese patients with surgically resected invasive LUAD who underwent genetic testing for lung cancer were enrolled in this retrospective study.

NFIL3 and its immunoregulatory role in rheumatoid arthritis patients.

Nuclear-factor, interleukin 3 regulated (NFIL3) is an immune regulator that plays an essential role in autoimmune diseases. However, the relationship between rheumatoid arthritis (RA) and NFIL3 remains largely unknown. In this study, we examined NFIL3 expression in RA patients and its potential molecular mechanisms in RA.

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Objectives: Autosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetoprotein (AFP). This study aimed to expand and summarize the clinical and genetic characteristics of variants related to AOA2.

Methods: The biochemical parameters, electromyogram and radiological findings of the patient were evaluated.

Changes in Serum Liver Function for Patients with COVID-19: A 1-Year Follow-Up Study.

Objective: Abnormal liver function and liver injury related to COVID-19 during hospitalization has received widespread attention. However, the long-term observation of patients' liver functions after discharge has not been investigated. This study intends to analyze the abnormal liver function in patients one year after they are discharged.

The Gut Microbiome and Metabolites Are Altered and Interrelated in Patients With Rheumatoid Arthritis.

The relationship among the gut microbiome, global fecal metabolites and rheumatoid arthritis (RA) has not been systematically evaluated. In this study, we performed 16S rDNA sequencing and liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based nontargeted metabolomic profiling on feces of 26 untreated RA patients and 26 healthy controls. Twenty-six genera and forty-one MS2-identified metabolites were significantly altered in the RA patients.

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel Variants.

Primary coenzyme Q10 deficiency-6 (COQ10D6), as a rare autosomal recessive disease caused by mutations, is characterized by progressive infantile-onset nephrotic syndrome resulting in end-stage renal failure and sensorineural hearing loss. Here, we report two Chinese siblings with COQ10D6 who primarily presented with severe metabolic acidosis, proteinuria, hypoalbuminemia, growth retardation, and muscle hypotonia and died in early infancy. Using whole-exome sequencing and Sanger sequencing, we identified two rare recessive nonsense mutations in the gene segregating with disease in affected family members: c.

Proteomic and metabolomic profiling of urine uncovers immune responses in patients with COVID-19.

The utility of the urinary proteome in infectious diseases remains unclear. Here, we analyzed the proteome and metabolome of urine and serum samples from patients with COVID-19 and healthy controls. Our data show that urinary proteins effectively classify COVID-19 by severity.

Proteomic and metabolomic investigation of serum lactate dehydrogenase elevation in COVID-19 patients.

Serum lactate dehydrogenase (LDH) has been established as a prognostic indicator given its differential expression in COVID-19 patients. However, the molecular mechanisms underneath remain poorly understood. In this study, 144 COVID-19 patients were enrolled to monitor the clinical and laboratory parameters over 3 weeks.

Elevated expression of FABP4 is associated with disease activity in rheumatoid arthritis patients.

Data from 124 rheumatoid arthritis (RA) patients and 69 healthy controls were collected. ELISA was performed to detect serum FABP4 levels. FABP4 level was elevated in RA patients and positively associated with 28-joint disease activity score, high-sensitivity C-reactive protein, erythrocyte sedimentation rate, total cholesterol, triglyceride and low-density lipoprotein cholesterol.

Increased FURIN expression in rheumatoid arthritis patients and its anti-inflammatory effect.

Background: FURIN belongs to the proprotein convertase family that processes proproteins and is involved in many diseases. However, the role of FURIN in rheumatoid arthritis (RA) remains unknown. In this study, we investigated the association between circulating FURIN and disease activity in patients with RA and the effect of FURIN in THP-1-derived macrophages.

Proteomic and Metabolomic Characterization of COVID-19 Patient Sera.

Early detection and effective treatment of severe COVID-19 patients remain major challenges. Here, we performed proteomic and metabolomic profiling of sera from 46 COVID-19 and 53 control individuals. We then trained a machine learning model using proteomic and metabolomic measurements from a training cohort of 18 non-severe and 13 severe patients.

Prediction of severe illness due to COVID-19 based on an analysis of initial Fibrinogen to Albumin Ratio and Platelet count.

Concomitant coagulation disorder can occur in severe patients withCOVID-19, but in-depth studies are limited. This study aimed to describe the parameters of coagulation function of patients with COVID-19 and reveal the risk factors of developing severe disease. This study retrospectively analyzed 113patients with SARS-CoV-2 infection in Taizhou Public Health Center.

Germline and somatic mtDNA mutation spectrum of rheumatoid arthritis patients in the Taizhou area, China.

Objective: Reactive oxygen species are believed to be involved in the onset of RA, and the association between nuclear-encoded mitochondrial respiratory chain-related variants and RA has recently been revealed. However, little is known about the landscape of mitochondrial DNA (mtDNA) variants in RA.

Methods: Next-generation sequencing was conducted to profile mtDNA germline and somatic variants in 124 RA patients and 123 age- and sex-matched healthy controls in the Taizhou area, China.

Erratum to "Increased Expression of TLR10 in B Cell Subsets Correlates with Disease Activity in Rheumatoid Arthritis".

[This corrects the article DOI: 10.1155/2018/9372436.].

Increased Expression of TLR10 in B Cell Subsets Correlates with Disease Activity in Rheumatoid Arthritis.

Toll-like receptor (TLR) 10, mainly expressed on B cells, has emerged as a modulatory receptor in inflammation. Nonetheless, the clinical significance of TLR10 in rheumatoid arthritis (RA) remains unclear. In this study, we explored the expression of TLR10 in B cells and B cell subsets in RA subjects and healthy controls (HCs) and determined its relevance to disease activity and inflammatory biomarkers.

The association between albumin-dNLR score and disease activity in patients with rheumatoid arthritis.

Background: Recently, clinical studies have described an association between albumin and the derived neutrophil to lymphocyte ratio (dNLR) with several diseases. This study was aimed to investigate the albumin-dNLR (ALB-dNLR) score in rheumatoid arthritis (RA) patients and assess its relationship with clinical and laboratory parameters of RA.

Methods: We retrospectively enrolled 127 RA patients, 155 osteoarthritis (OA) patients, and 155 healthy controls.

Prognostic significance of pre-resection albumin/fibrinogen ratio in patients with non-small cell lung cancer: A propensity score matching analysis.

Background: Nutrition and coagulation play important roles in cancer progression. This study was aimed to investigate the value of the albumin/fibrinogen ratio (AFR) in non-small cell lung cancer (NSCLC) patients, through a propensity score matching (PSM) method.

Methods: We retrospectively analyzed 529 NSCLC patients underwent surgical resection from 2010 to 2015.

Corrigendum to "Serum Sclerostin Levels in Patients with Ankylosing Spondylitis and Rheumatoid Arthritis: A Systematic Review and Meta-Analysis".

[This corrects the article DOI: 10.1155/2017/9295313.].

Estradiol inhibits NLRP3 inflammasome in fibroblast-like synoviocytes activated by lipopolysaccharide and adenosine triphosphate.

Objective: Nucleotide binding domain and leucine-rich repeat pyrin 3 domain (NLRP3) inflammasome is known for activating pro-inflammatory cytokines in knee osteoarthritis (OA). This study was performed to identify whether NLRP3 inflammasome can be triggered by lipopolysaccharides (LPS) and adenosine triphos adenine (ATP), which are positively related with knee OA severity in joint-spaces, in human fibroblast-like synoviocytes (FLS), and to identify whether estrogen would inhibit the activation of NLRP3 inflammasome.

Methods: In the present study, human FLS were isolated from the knee OA in patients during arthroplasty, and were treated with LPS and ATP in the presence or absence of estradiol (E2).

The association between the lymphocyte-monocyte ratio and disease activity in rheumatoid arthritis.

The lymphocyte-monocyte ratio (LMR) is a systemic inflammatory marker for prediction of disease development, progress, and survival. Recently, a genome-wide association study identified genetic variations in ITGA4 and HLA-DRB1 that affect the LMR levels and were widely believed to be susceptibility genes for autoimmune diseases, including rheumatoid arthritis (RA). However, the role of LMR in RA patients remains unclear.