Medicine
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Observational Study
Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Hearing loss is a common neurosensory disorder, approximately half of the cases are caused by genetic factors, and approximately 70% of hereditary hearing impairments are nonsyndromic hearing loss (NSHL). The mutations of GJB2 (gap junction beta-2 protein), GJB3 (gap junction beta-3 protein), SLC26A4 (solute carrier family 26 member 4), and MT-RNR1 (mitochondrially encoded 12S RNA) are the most common inherited causes of NSHL. Because of different genetic backgrounds, the mutation spectrum of these common deafness-causing genes varies among different regions in China. ⋯ The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively. We followed up subjects with single-gene homozygous or compound heterozygous mutations. Our study firstly analyzed deafness-causing genes mutation spectrum in Hakka population, providing evidence for future neonatal screening and genetic counseling in this area.
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Pancreatic cancer (PC) is one of the most lethal tumors, due to late diagnosis and limited surgical strategies. It has been reported that serum exosomal microRNAs (S-Exo-miRNAs) play a pivotal role as signaling molecules and serve as noninvasive diagnosis methods for PC. The combination of S-Exo-miRNAs with the corresponding target also plays an important role in the tumor microenvironment. ⋯ This analysis provides a comprehensive understanding of the roles of S-Exo-miRNAs and the related targets in the development of PC. Additionally, the present study provides promising candidate targets for early diagnosis and therapeutic intervention. However, these predictions require further experimental validation in future studies.
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Randomized Controlled Trial
Characteristics of repaglinide and its mechanism of action on insulin secretion in patients with newly diagnosed type-2 diabetes mellitus.
This study aims to compare the effect of repaglinide and metformin among Chinese patients with newly diagnosed diabetes, and explore the possible mechanisms by which repaglinide alters insulin secretion. Sixty subjects with glycated hemoglobin (HbA1c) < 10.0% were randomly selected to receive repaglinide or metformin monotherapy for 15 weeks. Blood glucose levels, glycemic variability, β-cell function, and first-phase insulin secretion were compared between these 2 groups at baseline and at 15 weeks. ⋯ The insulin levels of the cell medium in the repaglinide group remained significantly higher at all timepoints. This study manifests that repaglinide has a noninferiority effect on the glycemic parameters of Chinese patients with newly diagnosed diabetes, when compared with metformin. The PCNT-F-actin pathway plays an important role in the repaglinide regulation process of on-demand insulin secretion.
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Comparative Study Clinical Trial Observational Study
Epigenetic differences of chronic hepatitis B in different TCM syndromes: Protocol for a case-control, non-interventional, observational clinical study.
Chronic hepatitis B is a serious disease causing serious harm to the human health. Chinese medicine has its unique advantages in the clinical prevention and treatment, while the syndrome of Chinese medicine lacks the understanding at the micro level. There are some theoretical commonalities between the epigenetics and traditional Chinese medicine (TCM) syndromes. The biological basis of chronic hepatitis B (CHB) syndrome differentiation from the perspective of epigenetics is of great significance to diagnose and prevent the diseases. ⋯ From the perspective of DNA methylation epigenetics, "DNA methylation-miRNA-Target gene" is the main line, which further reveals the essence of TCM syndrome. To improve the level of TCM clinical syndrome differentiation and the clinical efficacy of TCM, especially in the study of TCM syndromes of CHB, discovering its underlying biological signature is necessary.
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Vitamin D maintains calcium balance and has immunomodulatory effects. Only few studies have revealed the relationship between vitamin D and its associated factors in Mycobacterium avium complex (MAC) infection. This study aimed to investigate the effects of MAC infection on serum vitamin D, human cationic antimicrobial protein 18, its C-terminal 37 amino acid fragment (hCAP18/LL-37) levels, and bone mineral density (BMD). ⋯ Based on a multivariate analysis, patients with MAC lung disease had significantly lower body mass index [odds ratio (OR), 19.1; 95% confidence interval (CI), 2.0-419.0; P < .01] and vertebral BMD (OR, 12.4; 95% CI, 1.7-160.6; P = .012) than control participants. Serum hCAP18/LL-37 level and BMD were significantly decreased in patients with MAC lung disease without relation to serum vitamin D level. The vitamin D-independent pathway might affect the waning of antimicrobial peptides and decrease in BMD.