One in seven couples worldwide are infertile, and male factor infertility accounts for approximately 30%-50% of these cases. Although many genes are known to be essential for gametogenesis, there are surprisingly few monogenic mutations that have been conclusively demonstrated to cause human spermatogenic failure. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis, and it is expressed in the steroidogenic tissue of the developing and adult human gonad. Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency. To test the hypothesis that mutations in NR5A1 cause male infertility, we sequenced NR5A1 in 315 men with idiopathic spermatogenic failure. We identified seven men with severe spermatogenic failure who carried missense mutations in NR5A1. Functional studies indicated that these mutations impaired NR5A1 transactivational activity. We did not observe these mutations in more than 4000 control alleles, including the entire coding sequence of 359 normospermic men and 370 fertile male controls. NR5A1 mutations are found in approximately 4% of men with otherwise unexplained severe spermatogenic failure.
Depression is the most common mood and psychiatric disorder. The aim of this comprehensive study was to provide a complete picture of the prevalence and risk factors of depression. The study employed a systematic review methodology, searching Iranian and international databases. After screening and evaluating the articles, a synthesis of 53 articles was accumulated. A meta-analysis of the studies showed that the prevalence of children and adolescent depression was 43.55% using the BDI, 15.87 % using SCL-90, and 13.05% using CDI. Also, the prevalence of depression was higher among girls than boys based on the BDI and CDI results. The most important factors contributing to depression were: the female sex, poor inter-parental relationship, poor adolescent-parent relationship, low socio-economic status (SES), state of parenting styles, low level of parental education, and poor academic performance. The comparatively high prevalence of depression among Iranian adolescents call for further investigation and measures.
Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.
We report for the first time a mutation in the CDON gene associated with PSIS.
Background Large language models exhibiting human-level performance in specialized tasks are emerging; examples include Generative Pretrained Transformer 3.5, which underlies the processing of ChatGPT. Rigorous trials are required to understand the capabilities of emerging technology, so that innovation can be directed to benefit patients and practitioners. Objective Here, we evaluated the strengths and weaknesses of ChatGPT in primary care using the Membership of the Royal College of General Practitioners Applied Knowledge Test (AKT) as a medium. Methods AKT questions were sourced from a web-based question bank and 2 AKT practice papers. In total, 674 unique AKT questions were inputted to ChatGPT, with the model’s answers recorded and compared to correct answers provided by the Royal College of General Practitioners. Each question was inputted twice in separate ChatGPT sessions, with answers on repeated trials compared to gauge consistency. Subject difficulty was gauged by referring to examiners’ reports from 2018 to 2022. Novel explanations from ChatGPT—defined as information provided that was not inputted within the question or multiple answer choices—were recorded. Performance was analyzed with respect to subject, difficulty, question source, and novel model outputs to explore ChatGPT’s strengths and weaknesses. Results Average overall performance of ChatGPT was 60.17%, which is below the mean passing mark in the last 2 years (70.42%). Accuracy differed between sources (P=.04 and .06). ChatGPT’s performance varied with subject category (P=.02 and .02), but variation did not correlate with difficulty (Spearman ρ=–0.241 and –0.238; P=.19 and .20). The proclivity of ChatGPT to provide novel explanations did not affect accuracy (P>.99 and .23). Conclusions Large language models are approaching human expert–level performance, although further development is required to match the performance of qualified primary care physicians in the AKT. Validated high-performance models may serve as assistants or autonomous clinical tools to ameliorate the general practice workforce crisis.
As explained by the World Health Organization (WHO) in 2000, the concept of health system responsiveness is one of the core goals of health systems. Since 2000, further efforts have been made to measure health system responsiveness and the factors affecting responsiveness, yet few studies have applied responsiveness concepts to the evaluation of mental health systems. The present study aims to measure responsiveness and its related domains in the mental health-care system of Tehran. Utilizing the same method used by the WHO for its responsiveness survey, responsiveness for outpatient mental health care was evaluated using a validated Farsi questionnaire. A sample of 500 public mental health service users in Tehran participated and subsequently completed the questionnaire. On average, 47% of participants reported experiencing poor responsiveness. Among responsiveness domains, confidentiality and dignity were the best performing factors while autonomy, access to care, and quality of basic amenities were the worst performing. Respondents who reported their social status as low were more likely to experience poor responsiveness overall. Attention and access to care were responsiveness dimensions that performed poorly but were considered to be highly important by study participants. In summary, the study suggests that measuring responsiveness could provide guidance for further development of mental health-care systems to become more patient orientated and provide patients with more respect.
BackgroundDespite the growing interest in the study of disasters, there is limited research addressing the elderly population that lead to prejudiced beliefs that older adults are more vulnerable to disasters than younger adults. This study aimed to compare positive mental health between elderly and young earthquake survivors.MethodData for this study, consisting of 324 earthquake survivors, were obtained from a population-based cross-sectional survey conducted in Iran, 2015. The long-term effect of earthquake was assessed using the Mental Health Continuum-Short Form questionnaire. A one-way multivariate analysis of covariance (MANCOVA) using SPSS (version 22) was used in data analysis.ResultsOlder adults scored significantly a higher level of overall positive mental health (mean [M]=34.31, standard deviation [SD]=10.52) than younger age group (M=27.48, SD=10.56, t=−4.41; P<0.001). Results of MANCOVA revealed a statistically significant difference between older and young adults on the combined positive mental health subscales (F(3,317)=6.95; P<0.001), after controlling for marital status, sex, and employment status.ConclusionThe present findings showing a higher level of positive mental health among elderly earthquake survivors compared with their younger counterparts in the wake of natural disasters suggest that advancing age per se does not contribute to increasing vulnerability.
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