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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Current total hip arthroplasty (THA) implant usage trends favor cementless fixation, and plenty studies have demonstrated that numbers of cementless femoral stems are associated with excellent long-term survivorship and functional outcomes. Various types of cementless femoral stems have been developed and utilized in multiple applications, including straight, tapered, anatomic, customized, short, and even neck stems. All of these designs aimed to achieve maximal primary stability and promote osseointegration. Nevertheless, stress-shielding and periprosthetic bone loss continue to occur and remain critical issues in promoting long-term survivorship of THA. Considering anatomic and tapered stems are the most popular cementless designs today, this prospective cohort study aimed to investigate the effect of stem design on stress-shielding and periprosthetic bone remodeling after implantation of an anatomic stem with proximal fixation (Ribbed Hip system; Waldemar Link, Hamburg, Germany) and the direct comparison to a fully coated tapered stem (LCU Hip system; Waldemar Link). ⋯ Chinese Clinical Trial Registry (http://www.chictr.org.cn): ChiCTR1800017841.
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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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Hand, foot, and mouth disease (HFMD), caused by enteroviruses, is an acute contagious disease in children. Some severe infections caused by human enterovirus 71 (HEV71) lead to rapid death in children with acute heart failure (HF). N-terminal probrain natriuretic peptide (NT-proBNP) is an important indicator of HF; however, its normal reference values in children and role in HFMD remain unclear. ⋯ NT-proBNP levels can reflect the severity of HFMD and discriminate the second stage from the third stage of HFMD effectively. NT-proBNP is a useful biomarker to predict the early stage of severe HFMD in children with HF. Different ages fit with different normal reference values of NT-proBNP in children.
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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.