Contribution of chromosomal aberrations to the pathogenesis of primary and secondary amenorrhea: A study from Western Iran.

Objective: Amenorrhea is an abnormal condition characterized by the absence of menstruation in women of reproductive age. According to the World Health Organization, amenorrhea ranks as the sixth leading cause of female infertility. Approximately 2% to 5% of women of reproductive age experience amenorrhea, which can be classified as primary amenorrhea (PA) or secondary amenorrhea (SA). Several studies have named chromosomal abnormalities among the main causes of amenorrhea, though the prevalence of these abnormalities may differ across populations. The objective of this study was to ascertain the frequency and types of chromosomal abnormalities in women with amenorrhea in Kermanshah Province, Iran. Methods: This retrospective study included patients with PA and SA who underwent standard cytogenetic analysis. We also conducted a review of the literature on chromosomal abnormalities and their prevalence in SA. Results: Among the 137 cases of PA in this study, 22% exhibited chromosomal abnormalities. Numerical changes were the most common finding (46.6%) in this group, including 45,X, mosaic, and 47,XXX karyotypes. These were followed by the 46,XY karyotype (40%). Of the 51 cases of SA that received chromosomal analysis, abnormalities were identified in only one case. Additionally, our review of the literature revealed that chromosomal aberrations are responsible for 7% of SA cases globally. Conclusion: In this study, we successfully characterized the cytogenetic causes of PA and SA in a substantial population from Kermanshah Province, Iran.

Design Considerations for Virtual Reality Intervention for People with Intellectual and Developmental Disabilities: A Systematic Review.

OBJECTIVES: This systematic review aims to explore virtual reality (VR) applications for rehabilitation purposes among people with intellectual and developmental disabilities (IDD), identify their effects on rehabilitation outcomes, explore themes to consider in VR intervention design, and provide guidance for designers and researchers in creating therapeutic environments using VR technology. BACKGROUND: VR has gained increasing attention in healthcare settings to assist in achieving rehabilitation goals for people with IDD. VR is particularly advantageous since it simulates the real world while providing controllable, safe, and versatile environments. It is necessary to expand the current body of knowledge on VR intervention's outcomes by synthesizing further information on VR application characteristics as well as identifying design considerations regarding feasibility, usability, safety, and other aspects that will benefit future VR intervention design and research. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framed the current review. Multiple databases were searched to identify studies published between 2001 and 2023. The review qualitatively organized VR environment design considerations according to three themes: feasibility, usability, and safety. RESULTS: This review included 27 articles and included 868 participants. The overall findings indicated that VR interventions are promising in enhancing rehabilitation outcomes among people with IDD, such as physical, cognitive, emotional, and functional independence domains. CONCLUSION: This review provides design recommendations to create effective, usable, and safe VR interventions for individuals with IDD. The suggested design implications should be applied with the awareness that VR is a relatively emerging technology with rapidly evolving features.

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII.

Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.

Prevalence of Chromosomal Abnormalities in Iranian Patients with Infertility.

BACKGROUND: The numerical and structural abnormalities of chromosomes are the most common cause of infertility. Here, we evaluated the prevalence and types of chromosomal abnormalities in Iranian infertile patients. METHODS: We enrolled 1750 couples of reproductive age with infertility, who referred to infertility clinics in Tehran during 2014- 2019, in order to perform chromosomal analysis. Peripheral blood samples were obtained from all couples and chromosomal abnormalities were evaluated by G-banded metaphase karyotyping. In some cases, the detected abnormalities were confirmed using fluorescence in-situ hybridization (FISH). RESULTS: We detected various chromosomal abnormalities in 114/3500 (3.257%) patients with infertility. The prevalence of chromosomal abnormalities was 44/114 (38.596%) among infertile females and 70/114 (61.403%) among infertile males. Structural chromosomal abnormalities were found in 27/1750 infertile females and 35/1750 infertile males. Numerical chromosomal abnormalities were found in 17/1750 of females and 35/1750 of males. The 45, XY, rob (13;14) (p10q10) translocation and Klinefelter syndrome (47, XXY) were the most common structural and numerical chromosomal abnormalities in the Iranian infertile patients, respectively. CONCLUSION: In general, we found a high prevalence of chromosomal abnormalities in Iranian patients with reproductive problems. Our study highlights the importance of cytogenetic studies in infertile patients before starting infertility treatments approaches.