The global disease burden attributable to unsafe water, sanitation, and handwashing with unqualified facilities from 1990 to 2019.

Background: Water, sanitation, and hygiene (WaSH) are crucial determinants of human health. However, the spatio-temporal trends in the global burden of disease attributable to unsafe WaSH remain poorly understood. This study aimed to estimate the disease burden attributable to unsafe WaSH from 1990 to 2019 using data from the Global Burden of Disease (GBD) Study 2019, providing new insights into the associated health conditions.

A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China.

Background: Pharmacogenomics (PGx) examines the influence of genetic variation on drug responses. With more and more Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines published, PGx is gradually shifting from the reactive testing of single gene toward the preemptive testing of multiple genes. But the profile of PGx genes, especially for the intra-country diversity, is not well understood in China.

Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.

Objectives: Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A > G and m.1494C > T mutations in the 12 S ribosomal RNA gene contribute to aminoglycoside-induced and nonsyndromic hearing loss worldwide.

Serum-derived exosomes promote CD8+ T cells to overexpress PD-1, affecting the prognosis of hypopharyngeal carcinoma.

Background: Hypopharyngeal cancer (HPC) is associated with a poor prognosis and a high recurrence rate. Immune escape is one of the reasons for the poor prognosis of malignant tumors. Programmed cell death ligand 1 (PD-L1) and programmed cell death-1 (PD-1) have been shown to play important roles in immune escape.

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Background: Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, and T13 after serum biochemistry screening. This study aims to discuss the clinical performance of NIPT as an alternative first-tier screening test for pregnant women in detecting T21, T18, T13, and sex chromosome aneuploidies (SCAs) in China.

Methods: A total of 42,924 samples were recruited.

[Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan].

Objective: To determine the type and carrier rate of deafness-related variants in Dongguan, China.

Methods: A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders.

Maprotiline Prevents Monocrotaline-Induced Pulmonary Arterial Hypertension in Rats.

Pulmonary arterial hypertension (PAH) is a progressive disease caused by increased pulmonary artery pressure and pulmonary vascular resistance, eventually leading to right heart failure until death. Soluble guanylate cyclase (sGC) has been regarded as an attractive drug target in treating PAH. In this study, we discovered that maprotiline, a tetracyclic antidepressant, bound to the full-length recombinant sGC with a high affinity ( = 0.