A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Background/aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss.

Methods: We study a Chinese Zhuang ethnicity family with thiamine-responsive megaloblastic anemia. The proband of the study presented with anemia and diabetes, similar to his late brother, as well as visual impairment.

Significant association between RGS14 rs12654812 and nephrolithiasis risk among Guangxi population in China.

Background: Nephrolithiasis is a worldwide health problem that affects almost all populations. This study aimed to evaluate the association between rs12654812 of regulator of G protein signaling 14 (RGS14) gene and nephrolithiasis in the Chinese population.

Methods: A total of 1541 participators including 830 cases and 711 controls were included from Guangxi area in China.

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Background: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene.

Objectives: The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia.

Methods: A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene.

HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females.

Background And Aim: Recent studies have shown that genetic factors are involved in the development of kidney stone disease (KSD). A case-control association analysis was performed to investigate the association between homeodomain-interacting protein kinase 2 (HIPK2; OMIM *606868) polymorphisms and KSD.

Methods: A total of 890 KSD patients and 920 healthy subjects were analyzed.

[Defect of thiamine transport and activation and related disease].

Thiamine, also known as vitamin B1, is an important vitamin for the body. The activated form of thiamine pyrophosphate is involved in cell metabolism as an important co-enzyme. Defects of thiamine transport and activation may cause lack of thiamine and affection of cell metabolism, leading a variety of diseases.

Single and combined use of red cell distribution width, mean platelet volume, and cancer antigen 125 for differential diagnosis of ovarian cancer and benign ovarian tumors.

Background: Cancer is widely believed to result from chronic inflammation, and red cell distribution width (RDW) and mean platelet volume (MPV) are considered as inflammatory markers for cancer. We investigated the values of RDW, MPV, and cancer antigen 125 (CA125), alone or in combination, for distinguishing between ovarian cancer and benign ovarian tumors.

Methods: The study included 326 patients with ovarian cancer, 290 patients with benign ovarian tumors, and 162 control subjects.

16S rRNA gene sequencing reveals altered composition of gut microbiota in individuals with kidney stones.

Nephrolithiasis is a common urological disease with high prevalence and recurrence rates. Characterizing gut microbiome profiles of nephrolithiasis patients may provide valuable insights and potential biomarkers for the disease. Therefore, we explored the relation between gut microbiome and nephrolithiasis using 16S ribosomal RNA (rRNA) gene sequencing.

Association between Recreational Physical Activity and the Risk of Upper Urinary Calculi.

Objective: Upper urinary calculi (UUC) is considered to be a comprehensive disease associated with many risk factors, but the role of physical activity (PA) is undefined. Here, we conducted a cross-sectional study to investigate this relationship in Asian populations.

Materials And Methods: Patients diagnosed with UUC were the subjects of study and those who participated in a health examination in local medical center were included as controls.

Genetic variants in IL12 influence both hepatitis B virus clearance and HBV-related hepatocellular carcinoma development in a Chinese male population.

IL12 plays a major role not only in inducing appropriate immune responses against viral infections (including HBV) but also in the antitumor immune response. This study was conducted to investigate the relationships of genetic variants in IL12 with hepatitis B virus (HBV) clearance and development of HBV-related hepatocellular carcinoma (HCC). We genotyped three single nucleotide polymorphisms (SNPs) of the IL12A (rs568406 and rs2243115) and IL12B (rs3212227) in 395 HBV-positive HCC patients, 293 persistent HBV carriers and 686 subjects with HBV natural clearance from southern China, using the improved multiplex ligase detection reaction (iMLDR) method.