Qiu's Cervical Prescription inhibit the invasion and growth of cervical cancer through LncRNA ATB/miR-126 pathway.

Background: Cervical cancer (CC) is one of the most deadly cancers in women, its current treatments still result in poor outcomes and developing the novel targets and therapeutic strategies are urgently needed. Qiu's Cervical Prescription (QCP) is one of the traditional Chinese medicines used in the treatment of cervical cancer in China. Although its curative effect is remarkable, the internal mechanism of its treatment is still poorly understood.

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.

Severe glucose-6-phosphate dehydrogenase (G6PD) deficiency can lead to reduced nicotinamide adenine dinucleotide phosphate oxidase activity in phagocytes, resulting in immunodeficiency, with a limited number of reported cases. Here, we aimed to report a child with severe G6PD deficiency in China and investigate the mechanism of his recurrent infections. The clinical manifestations and immunological phenotypes of this patient were retrospectively collected.

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.

Background: Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies have shown an association between FUO and chromosomal abnormalities.

Variant Type X91 Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Purpose: We aimed to report the clinical and immunological characteristics of variant type X91 chronic granulomatous disease (CGD) in a Chinese cohort.

Methods: The clinical manifestations and immunological phenotypes of patients with X91 CGD were collected. A dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function.

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.

Background: Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead to immune dysregulation diseases. We retrospectively analyzed the age, common clinical symptoms, immunologic and molecular manifestations in 11 patients with LOF STAT3 mutations and 1 patient with a GOF STAT3 mutation.

Methods: Twelve patients were enrolled in our study.

Low-Dose Pioglitazone does not Increase ROS Production in Chronic Granulomatous Disease Patients with Severe Infection.

Purpose: We sought to further investigate the efficacy and safety of pioglitazone for chronic granulomatous disease (CGD) patients with severe infection.

Methods: CGD patients with severe infection were enrolled and treated with pioglitazone for 90 days. The degree of improvement in infection and the changes of dihydrorhodamine-123 (DHR) were used to evaluate the efficacy of pioglitazone.

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Purpose: We aimed to report the characteristics of leukocyte adhesion deficiency-I (LAD-I) and four novel mutations in the ITGB2 gene in a Chinese cohort.

Methods: Seven patients with LAD-I were reported in our study. Clinical manifestations and immunological phenotypes were reviewed.

Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.

Purpose: Tumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behçet's disease. Here, we report a novel mutation in TNFAIP3 in a Chinese patient, who had Behçet-like phenotype and persistent Epstein-Barr virus (EBV) viremia.

A Chinese DADA2 patient: report of two novel mutations and successful HSCT.

Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by autosomal recessive mutations in Cat Eye Syndrome Chromosome Region 1 (CECR1) gene. In this report, we aimed to describe the clinical manifestations, immunological features, genotype, and treatments of one Chinese patient with novel CECR1 gene mutations. This patient initially presented with recurrent fever and rashes from the age of 3 months, but no pathogen was found.

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Purpose: We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1.

Methods: Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study.

The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry.

Background: Analyses of amino acid/acylcarnitines in dried blood spots (DBS) and organic acids in urine are the primary tests for inborn errors of metabolism (IEMs). Automated tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) can rapidly and simultaneously detect numerous metabolic compounds with high precision and sensitivity.

Methods: Three thousand four hundred and twenty-nine DBSs and 2781 urine samples were collected from our hospital patients with suspected IEMs, and analyzed for amino acid/acylcarnitines and organic acids by MS/MS and GC/MS, respectively.

A modified formula for calculating low-density lipoprotein cholesterol values.

Background: The Friedewald formula (FF) is useful for calculating serum low-density lipoprotein cholesterol (LDL-C) values, but has a remarkable deviation and limitation especially in hypertriglyceridemia. We modify the formula which is now more suitable for LDL-C calculation.

Methods: 2180 cases were classified into three groups according to their TG concentrations (A: < 200 mg/dl, n = 1220; B: 200-400 mg/dl, n = 480; C: 400-1000 mg/dl, n = 480).