Extra cut-off value of aldosterone-to-renin ratio for screening primary aldosteronism in hypertensive patients with diabetes mellitus.

Primary aldosteronism (PA) and diabetes mellitus (DM) may coexist. We previously found that DM and impaired glucose tolerance (IGT) may decrease the efficiency of the aldosterone-to-renin ratio (ARR) for screening PA. Thus, we wanted to determine appropriate ARR cut-off values for screening PA in patients with hypertension with DM and IGT.

Effect of MSX1 on the cellular function of cardiomyocytes.

MSX1 (Muscle Segment Homeobox 1) has pleiotropic effects in various tissues, including cardiomyocytes, while the effect of MSX1 on cardiomyocyte cellular function was not well known. In this study, we used AC16 cell culture, real-time fluorescence quantitative PCR (qPCR), protein blotting (Western blot), flow cytometry apoptosis assay and lactate dehydrogenase (LDH) ELISA (Enzyme-Linked Immunosorbnent Assay) to investigate the effect of the MSX1 gene on cardiomyocyte function. The results showed that MSX1 plays a protective role against hypoxia of cardiomyocytes.

Online prediction model for primary aldosteronism in patients with hypertension in Chinese population: A two-center retrospective study.

Background: The prevalence of primary aldosteronism (PA) varies from 5% to 20% in patients with hypertension but is largely underdiagnosed. Expanding screening for PA to all patients with hypertension to improve diagnostic efficiency is needed. A novel and portable prediction tool that can expand screening for PA is highly desirable.

The CYP3A5 and ABCB1 Gene Polymorphisms in Kidney Transplant Patients and Establishment of Initial Daily Tacrolimus Dosing Formula.

Background: Tacrolimus is an immunosuppressive drug used to prevent organ rejections. Many factors could influence blood concentration of tacrolimus.

Objective: To detect genotypes of cytochrome () and in kidney transplant patients and establish initial daily tacrolimus dosing formula based on genotypes of and and patients' clinical parameters.

Activation of Gonadotropin-releasing Hormone Receptor Impedes the Immunosuppressive Activity of Decidual Regulatory T Cells via Deactivating the Mechanistic Target of Rapamycin Signaling.

Understanding maternal immune tolerance is crucial for the development of therapeutics for immunological pregnancy complications. Decidual regulatory T cells (Tregs) play a pivotal role in the maintenance of maternal immune tolerance. Using a murine allogeneic pregnancy model in the current study, we identified the up-regulation of gonadotropin-releasing hormone receptor (GnRHR) in decidual T cell subsets including CD4 conventional T cells, CD8 T cells, and CD4Foxp3 Tregs.

Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report.

Prenatal genetic counseling can be difficult, especially when it is related to fetuses with a rare thalassemia. An intronic variant located far from obvious regulatory sequences in the gene could be very difficult to evaluate as it may affect the mRNA processing or cause β-thalassemia (β-thal). In the present study, a Chinese pregnant woman with HbJ-Bangkok and a very rare change in the second intron of the gene [IVS-II-806(G>C), NM_000518.

and Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances. In most cases, and , which encode glycosyltransferases involved in the biosynthesis of heparan sulfate, are the genes responsible. Here we describe the clinical, phenotypic and genetic characterization of MO in 22 unrelated Chinese families involving a total of 60 patients.

miR-5188 augments glioma growth, migration and invasion through an SP1-modulated FOXO1-PI3K/AKT-c-JUN-positive feedback circuit.

The biological effect and molecular mechanism of miR-5188 have not been thoroughly investigated. The study aims at elucidating the role of miR-5188 in glioma progression. Human glioma cell lines and tissues were used for functional and expression analysis.

Hypoglycemia during Short-Term Intensive Insulin Therapy and Its Association with Long-Term Glycemic Remission in Patients with Newly Diagnosed Type 2 Diabetes.

Background: Short-term intensive insulin therapy induces long-term glycemic remission in half of patients with newly diagnosed type 2 diabetes. The concomitant hypoglycemia needs further analysis.

Methods: We collected data from three randomized trials conducted with the same inclusion and exclusion criteria at our institution from 2002 to 2015.

A new therapy in Epstein-Barr virus-associated lymphoproliferative disease: a case report and a revision of the literature.

Background: Systemic chronic active Epstein-Barr virus infection is an extremely rare childhood disease. Since chronic active Epstein-Barr virus infection can trigger the onset of Epstein-Barr virus-associated lymphoproliferative disease. The clinical manifestations of the disease vary according to the site of involvement; therefore, management may be challenging.

The phenomena of balanced effect between α-globin gene and of β-globin gene.

Background: Thalassemias (TM) are the most common autosomal recessive disorders in Southeast Asian countries. Both α- and β-thalassemia lead to a decrease or absence of globin chains. The most serious of the thalassemia syndromes is thalassemia major which is characterized by a transfusion dependent anemia and subsequent iron overload caused by repeated blood transfusions.

A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

Pompe disease is an autosomal recessive disorder resulting from a deficiency of acid α-glucosidase (GAA). It is uncommon in the mainland of China, due to rare mutations in the gene. The aim of this work was to elucidate the causative role of a novel compound heterozygous mutation of juvenile onset Pompe disease.

Copy number variations independently induce autism spectrum disorder.

The examination of copy number variation (CNV) is critical to understand the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs.

Unexpected Detection of HbH-CS in a Pregnant Woman by Assessing HbA1c Using Capillary Electrophoresis.

Background: Testing for hemoglobin A1C (HbA1C) is useful for following up on glycemic control in diabetic patients as well as in pregnant women.

Methods: A pregnant Chinese woman appeared for regular pregnancy check-ups. While monitoring blood glucose, an HbA1c test was initially performed in the pregnant Chinese woman using a CE-HPLC assay and capillary electrophoresis.

[Analysis of hematological phenotype and genotype of 23 patients from Guangdong with co-inherited hemoglobin Hb Westmead and β-thalassemia].

Objective: To analyze the genotype-phenotype correlation among carriers from Guangdong with co-inherited hemoglobin Hb Westmead (HbWS) and β-thalassemia.

Methods: Twenty three patients (including 9 males and 14 females, aged 1-53 year old) were diagnosed by hematological analysis and genetic testing. Complete blood cell count and hemoglobin electrophoresis analysis were performed on a XE4000i automatic hemocyte analyzer.

Sample Processing Effect on BK Virus Detection by Real-Time PCR in Urine Samples.

Background: Measurement of BK viral DNA in urine by quantitative real-time PCR is a useful tool in monitoring BK viruria and nephropathy. We conducted this study to evaluate the differences in BK virus detection by different sample processing.

Methods: A total of 140 samples from 60 patients were processed by different methods including DNA extraction by spin column from whole urine, urine sediment, and urine supernatant.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Objective: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses.

Study Design: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1.

Detection and analysis of resistance mutations of hepatitis B virus.

Objective: To investigate the relationships of resistance mutations of hepatitis B virus (HBV) with replication and genotypes of HBV and to understand the common resistance mutations and mutation pattern.

Methods: The mutation patterns related to resistance to nucleoside drugs were analyzed, and the relationships of resistance mutations with HBV genotypes, Ct value, HBeAg, alanine aminotransferase (ALT), age and gender were evaluated.

Results: Genotype B was found in 52 patients (73.

Prader-Willi syndrome with a long-contiguous stretch of homozygosity not covering the critical region.

Prader-Willi syndrome is a common and complex disorder affecting multiple systems. Its main manifestations are infantile hypotonia with a poor sucking reflex, a characteristic facial appearance, mild mental retardation, hypogonadism and early-onset obesity. Prader-Willi syndrome is due to the absence of paternally expressed imprinted genes at 15q11.

Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.

We applied CMA to detect chromosomal variations during a prenatal diagnosis and detected a 4.5Mb pure microdeletion at 18p11.3 that was not detected by conventional karyotyping.

A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

Background: Brachydactyly type A2 (BDA2) is an autosomal dominant disorder. It was recently reported that a 5.9 kb duplication and a 5.