Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases of CdLS with distinct phenotypes that underwent WES to aid in their diagnosis. METHODS: We conducted a comprehensive review of the literature on CdLS along with performing whole-exome sequencing on two CdLS patients with distinct phenotypes, followed by Sanger sequencing validation and in-silico analysis. RESULTS: The first case exhibited a classic CdLS phenotype, but the initial WES analysis of blood-derived DNA failed to identify any mutations in CdLS-related genes. However, a subsequent WES analysis of skin-derived DNA revealed a novel heterozygous mutation in the NIPBL gene (NM_133433.4:c.6534_6535del, p.Met2178Ilefs*8). The second case was presented with a non-classic CdLS phenotype, and WES analysis of blood-derived DNA identified a heterozygous missense variant in the SMC1A gene (NM_006306.4:c.2320G>A, p.Asp774Asn). CONCLUSIONS: The study shows the importance of considering mosaicism in classic CdLS cases and the value of WES for identifying genetic defects. These findings contribute to our understanding of CdLS genetics and underscore the need for comprehensive genetic testing to enhance the diagnosis and management of CdLS patients.

The self-care situation analysis of reproductive-aged women in Tehran: a survey study.

BACKGROUND: Along with a global increase in the prevalence of infectious and non-communicable diseases, self-care with an emphasis on reproductive health Self-care has received special attention. Given the importance of women's health, assessment of their self-care status using a valid and reliable tool seems to be necessary to determine the needs for future women's reproductive health promotion interventions. The present study aimed to assess the women's self-care at reproductive age in Tehran, to determine women's health needs based on global guidelines for women's health. METHODS: This was a descriptive cross-sectional study on 1051 women of reproductive age, living in Tehran. The Subjects were recruited using a multi-stage sampling method. The women completed a socio-demographic and valid and reliable questionnaire to assess their self-care status. The data were analyzed using SPSS 24 and by Pearson, Spearman, ANOVA, and regression tests. RESULTS: The mean score of self-care was 49.57 ± 23.50% in the reproductive-aged women. The lowest scores were related to psychosocial health (32.12 ± 29.93%) and reproductive-sexual health (49.74 ± 27.99%) respectively. There were significant positive correlations between the self-care and women's education level (r = 0.180; p < 0.01), and husband's education level (r = 0.272; p < 0.01), while there was a negative significant correlation between the self-care and the family size (r = - 0.135; p < 0.01). CONCLUSION: The findings showed inadequate self-care among reproductive-aged women in Tehran. The most important challenge in their self-care behaviors was related to psychosocial and reproductive-sexual health. It seems to provide a package for promoting women's self-care in four areas of physical, psychosocial, reproductive-sexual health, and screening tests, with an emphasis on the first two priorities, namely psychosocial and reproductive health necessary in Tehran.

The framework for integrated, people-centered health services was introduced in 2016 by the World Health Organization (WHO) (World Health Organization, Interim report: placing people and communities at the Centre of health services: WHO global strategy on integrated peoplecentred health services 2016-2026: executive summary, 2015). A people-centered approach supports health literacy so that people can take responsibility for their health with evidence-based self-care interventions. When people have agency and autonomy, they can make and enact decisions in all aspects of their lives, including health (World Health Organization, WHO consolidated guideline on self-care interventions for health: sexual and reproductive health and rights: executive summary, 2019). The WHO defines self-care as "the ability of individuals, families, and communities to promote health, prevent disease, maintain health, and to cope with illness and disability with or without the support of a healthcare provider". Self-care allows people to become agents of their health, leading to improved outcomes, especially in the area of sexual and reproductive health where stigma may prevent them from seeking care. Women and girls can identify their own health needs, and effectively manage their health conditions through self-care approaches. The WHO places great emphasis on promoting self-care, especially in women's reproductive-sexual health, and encourages countries to design and implement their programs. Given the diversity of women's self-care needs, this study designed women's self-care assessment tools in two reproductive age groups in 4 dimensions including physical, psychosocial, sexual-reproductive health, and screening tests, based on a review of the valid international guidelines. The results showed that women are practicing only half of self-care and the main challenges were in psychosocial health and sexual-reproductive-health self-care in Tehran. It seems that evidence-based planning is necessary to promote self-care among reproductive-aged women.

Women's self-care for Coronavirus prevention and the related factors in Iran: A cross-sectional study.

Promoting self-care can be an effective way to decrease the rate of transmission and expansion of the infection. However, there seem to be different related factors to self-care by gender. This study aims to assess women's self-care for COVID-19 prevention and some related factors in Tehran-Iran in 2021. This was a descriptive cross-sectional study that was performed on 403 women living in Tehran in 2021. Subjects of the study were recruited using a multi-stage sampling method. Data was collected using a socio-demographic questionnaire as well as a valid and reliable questionnaire to assess women's self-care for COVID-19 prevention (SCVP-38). The questionnaires were sent on the Google platform to the eligible participants. After completion of the forms, the created data in the Excel software in Google Drive were converted to SPSS 24 and then analyzed by using t-test, ANOVA, Pearson correlation, and multiple linear regression tests. The overall mean score of self-care was 71.84±17.81 percent. The highest and lowest scores were respectively related to using masks in public vehicles and not touching the face. Significant negative correlations were shown between the women's self-care on Corona prevention with stress, anxiety, concerns, and fear (P<0.001). Linear multiple regression showed two factors including women's age (p = 0.033) and their number of children (p = 0.042) predict the self-care, so that, for increasing each year to women's age, SCVP increases by 0.463 units, and with increasing each child, SCVP decreases by 3.608 units. We concluded that in the COVID-19 pandemic, women in Tehran are performing more than 70% of measures of self-care. Also, education about self-care is recommended for younger women with more children. Moreover, promoting the self-care program can improve women's mental health during the COVID-19 pandemic.

A situation analysis on postmenopausal women's self-care needs and priorities in Tehran: a population-based study.

BACKGROUND: Women need special care during and after menopause. Due to the emphasis of the World Health Organization on promoting self-care in postmenopausal women, this study aims to analyze the situation and prioritize the self-care needs of postmenopausal women in the Tehran-Iran. METHODS: This was a descriptive-analytical study on 486 postmenopausal women aged 46-85 years living in Tehran in 2021. The Subjects were recruited using a multi-stage sampling method. Data were collected using a socio-demographic and a valid and reliable questionnaire to assess postmenopausal women's self-care status with four domains including physical health, psychosocial health, reproductive-sexual health, and screening tests. The data were analyzed by SPSS-24. RESULTS: The mean age of the participants was 62.58 ± 7.75 years. The mean score of self-care was 44.63 ± 21.64% in the postmenopausal women. The lowest score and highest scores were related to psychosocial health (25.12 ± 28.21%) and periodic tests (50.62 ± 24.40%) respectively. There were significant positive correlations between self-care with women's education level (r = 0.277; p < 0.001), husband's education level (r = 0.258; p < 0.001), as well as monthly income (r = 0.153; p = 0.001). There was a negative correlation between self-care with the number of children (r = - 0.215; p < 0.001). The level of self-care was higher in employed women (p = 0.001) and also, in women whose husbands were employed (p = 0.012). Multiple linear regression test showed the level of education of the husband (B = 2.72, p = 0.038) and the family size (B = -1.54, p = 0.023) are predictors of the self-care of postmenopausal women. CONCLUSION: The findings showed more than 55% of challenges in the self-care behaviors of postmenopausal women in Tehran. The most and least challenging self-care behaviors were related to psychosocial health and performing periodic tests. The priorities were in psychosocial health and reproductive-sexual health dimensions. Self-care promotion is necessary, especially in postmenopausal women, who need special care due to various physical, psychological, and social changes.