Medicine
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Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions. In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious stimuli, self-mutilation, inability to sweat, and developmental delay. ⋯ Sequencing analysis revealed an inherited novel mutation, c.1635G>C, and a novel de novo mutation, c.2197G>A, in the NTRK1 gene. In silico studies suggested that the mutations described are detrimental to the function of the protein encoded by the NTRK1 gene. The two novel mutations described here widen the genetic spectrum of CIPA, and this knowledge will benefit studies addressing this disease and pain medicine in the future.
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We evaluate the effects of zolpidem use to develop dementia or Alzheimer disease from the Taiwan National Health Insurance Research Database (NHIRD). A retrospective population-based nested case-control study. Newly diagnosed dementia patients 65 years and older and controls were sampled. ⋯ The adjusted OR for patients whose cumulative exposure doses were between 170 and 819 mg/year (adjusted OR: 1.65, 95% CI 1.08-2.51, P = 0.0199) was significant; however, the effects for lower and higher cumulative dose were not significant. Zolpidem used might be associated with increased risk for dementia in elderly population. Increased accumulative dose might have higher risk to develop dementia, especially in patients with underlying diseases such as hypertension, diabetes, and stroke.
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To determine the incidence and risk factors of retinopathy of prematurity (ROP) among new-born Chinese infants of multiple gestations. A retrospective review of medical records was performed for all neonates of multiple gestations screened for ROP between January 2007 and December 2012 in 2 neonatal intensive care units in Hong Kong. Screening was offered to very low birth weight (VLBW; ≤1500 g) and/or preterm (gestation ≤32 weeks) neonates using the Royal College of Ophthalmologists ROP guideline and the International Classification of ROP by 3 pediatric ophthalmologists. ⋯ On multivariate analysis, younger GA, surfactant use, invasive mechanical ventilation, higher mean oxygen concentration, thrombocytopenia, intraventricular hemorrhage, total parental nutrition, and hypoglycemia were significant risk factors for ROP. For Type 1 ROP, there were no significant dependent risk factors. In preterm Chinese infants born from multiple gestations, prematurity, lighter weight, postnatal hypotension, inotropes use, bronchopulmonary dysplasia, and an intraventricular hemorrhage were common independent risk factors for the development of ROP and Type 1 ROP.
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Anatomic data regarding femoral version, neck-shaft angle, and acetabular anteversion are still limited in Chinese Han adult population. The aim of this study was to investigate the effects of age, sex, and body laterality on the 3 important anatomic indicators in Chinese Han healthy adults. Measurements were performed independently by 3 experienced observers using the picture archiving and communication system (PACS) in healthy adults who had received imaging tests of the femur and acetabulum between January 2009 and October 2014. ⋯ Laterality-based analysis found the left side had a significantly lower acetabular anteversion (P < 0.001) than the right side. Outcomes of multiple linear regression analysis indicated that femoral version may be associated with sex (P < 0.001) but not age (P = 0.076) or laterality (P = 0.430), neck-shaft angle may be associated with age (P < 0.001) but not sex (P = 0.378) or laterality (P = 0.233), and acetabular anteversion may be associated with age (P < 0.001) and sex (P < 0.001) but not laterality (P = 0.060). In this representative Chinese cohort, neck-shaft angle may decrease, whereas acetabular anteversion may increase with age, females may have higher values of femoral version and acetabular anteversion than males, and the right body side may have a higher value of acetabular anteversion than the left side.
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The acyl-CoA:diacylglycerol acyltransferase (DGAT) enzymes DGAT1 and DGAT2 catalyze the final step in triglycerides biosynthesis. This study examined the relationships of baseline phenotypes and the common polymorphisms in DGAT1 and DGAT2 with the lipid responses to niacin. Lipid responses in Chinese patients with dyslipidemia treated with the extended release (ER) niacin/laropiprant combination 1000/20 mg for 4 weeks and then 2000/40 mg for 8 weeks (n = 121, the primary study) or with ER niacin 1500 mg for at least 4 weeks (n = 68, the replication study) were analyzed according to genotypes of DGAT1 rs7003945 T>C and DGAT2 rs3060 T>C polymorphisms. ⋯ Concomitant statin therapy and lower body weight were also associated with greater reduction in LDL-C. Baseline lipid levels were the main determinants of lipid responses especially for LDL-C. The DGAT2 rs3060 polymorphism might influence the lipid responses depending on baseline phenotype, but this association did not persist after adjustment for the baseline lipid levels.