Medicine
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Case Reports
Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report.
Deafness is associated with both environmental and genetic factors, with hereditary deafness often caused by mutations in deafness-related genes. Identifying and analyzing deafness-related genes will aid in early diagnosis and pave the way for treating inherited deafness through gene therapy in the future. ⋯ This study identified 2 novel heterozygous mutations in a Chinese family. Both the proband and her sibling have non-syndromic hearing loss (NSHL) and carry distinct heterozygous mutations of cadherin-like 23 (CDH23). One mutation, CDH23:c.2651 A>G, originated from their mother and paternal family, affecting the exon23 domain of CDH23. The other mutation, CDH23:c.2113 G>T, was inherited from their paternal grandmother, impacting the exon19 domain of CDH23. These 2 novel mutations likely cause NSHL by affecting protein function. This finding suggests that identifying 2 novel mutations in CDH23 contributes to the genetic basis of NSHL.
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Observational Study
Effect of different growth hormone pretreatment times in assisted reproductive therapy for patients with diminished ovarian reserve: A retrospective pilot cohort study.
This study aimed to evaluate the effect of different growth hormone (GH) pretreatment times in assisted reproductive therapy in patients with diminished ovarian reserve (DOR). A retrospective pilot cohort analysis was performed on patients with DOR receiving GH pretreatment in the Assisted Reproduction Unit of Sir Run Run Shaw Hospital. A total of 1459 patients met the criteria and were divided into four groups according to GH pretreatment time as follows: 53 were in the 2-month pretreatment group (GH1), 400 were in the 1-month pretreatment group (GH2), 414 were in the ovulation induction period pretreatment group (GH3), and 592 were in the non-GH pretreatment group (control group). ⋯ These findings suggest that the GH pretreatment time was appropriately prolonged, and the number of oocytes retrieved nominally increased. In patients with DOR, GH pretreatment improved treatment outcomes. More than 1 month of GH pretreatment did not increase the number of oocytes retrieved.
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Observational Study
Relationship between sleep quality and duration and the incidence rate of arthritis: A prospective cohort study.
Little is known about the relationship between sleep duration and quality and the risk of arthritis in the older adult population of China. The participants were a prospective cohort of adults aged 65 years and over who had not had arthritis at baseline and had participated in follow-up surveys from 2011 to 2018 in the Chinese Longitudinal Health and Longevity Survey (CLHLS). A Cox proportional-hazards regression model was established. ⋯ Specifically, compared with participants with good sleep quality, those with poor sleep quality had a 38% higher risk of developing arthritis (hazard ratio [HR] = 1.38, 95% confidence interval [CI] = 1.09-1.74), and compared with participants with a sleep duration of 5 to 10 hours, those with a sleep duration shorter than 5 hours had a higher risk of developing arthritis (HR = 1.56, 95% CI = 1.27-1.91). Moreover, the results of a restricted cubic spline Cox proportional-hazards regression model showed that there was an approximately non-linear dose-response relationship between sleep duration and the incidence rate of arthritis (P nonlinear < .0001). Participants with poor sleep quality and a sleep duration shorter than 5 hours had a higher risk of developing arthritis than those with better sleep quality and a longer sleep duration.
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Observational Study
Prevalence of and factors associated with cognitive frailty in elderly patients with chronic obstructive pulmonary disease: A cross-sectional study.
The status of cognitive frailty in elderly patients with chronic obstructive pulmonary disease (COPD) and its influencing factors in China remains unclear. This study aimed to investigate the prevalence of and factors associated with cognitive frailty in elderly patients with COPD. This cross-sectional study enrolled elderly patients with stable COPD between May and November 2022 from the Respiratory Department of the First Affiliated Hospital of Zhengzhou University and the Fifth Affiliated Hospital of Zhengzhou University. ⋯ Binary logistic regression analysis showed that sex (odds ratio [OR] = 0.009; 95%CI: 0.001-0.770; P = .038), depression (OR = 17.780; 95%CI: 1.092-289.478; P = .043), modified Medical Research Council grade 1-3 (OR = 28.394-4095.683; 95%CI: 1.086-4,592,652.211; P < .05), global initiative for chronic obstructive lung disease grade 2 and 3 (OR = 32.508-282.072; 95%CI: 1.101-12,516.874; P < .05), and frequencies of acute exacerbations of COPD and hospitalizations within 1 year of 2 times (OR = 21.907; 95%CI: 4.587-104.622; P < .001) were independently associated with cognitive frailty. The prevalence of cognitive frailty in elderly patients with stable COPD was high. Female, depression, modified Medical Research Council grade, global initiative for chronic obstructive lung disease grade, and frequencies of acute exacerbations of COPD and hospitalizations within 1 year might be the factors independently associated with cognitive frailty, educational level might be a protective associated factor for cognitive frailty.
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Serum hemoglobin plays an important role in bone metabolism. However, the association between serum hemoglobin levels and bone mineral density (BMD) remains unclear. Therefore, this study aimed to explore the relationship between serum hemoglobin levels and lumbar spine BMD in adults. ⋯ Additionally, smooth curve fitting and threshold effect analyses showed a negative correlation between the serum hemoglobin level and the lumbar spine BMD, with a saturation effect at 15 g/dL. Our findings demonstrated an association between hemoglobin levels and the lumbar spine BMD in adults, characterized by a nonlinear relationship. Thus, monitoring the serum hemoglobin level could aid in the early detection of risks associated with bone metabolic disorders such as osteoporosis.