Journal of SAFOG最新文献_第2页

Genetic Mutations Reported in Patients of Consanguineous and Nonconsanguineous Marriages who Presented at a Tertiary Health Center for Genetic Counseling 在三级健康中心进行遗传咨询的近亲和非近亲婚姻患者的基因突变报告

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2166

Christy Vijay, Naveen Ramesh, Abhay Joseph, Preetha Tilak, GS Thanmayi

{"title":"Genetic Mutations Reported in Patients of Consanguineous and Nonconsanguineous Marriages who Presented at a Tertiary Health Center for Genetic Counseling","authors":"Christy Vijay, Naveen Ramesh, Abhay Joseph, Preetha Tilak, GS Thanmayi","doi":"10.5005/jp-journals-10006-2166","DOIUrl":"https://doi.org/10.5005/jp-journals-10006-2166","url":null,"abstract":"Background and objectives: It is vital to understand the function of every gene in the human genome, which determines the outcomes of an offspring based on copies of genes and the resulting phenotypes. Consanguinity is the sexual union or marriage between two individuals within their relatives (such as second cousins), sharing a common gene pool or biological ancestor. Hence, with the minimal information on consanguinity and the possible associated genetic mutations present in South Indian population. Methods: The data were collected by reviewing all the assessments done among parents identified to have 2nd-and/or 3rd-degree consanguineous marriage or genetic syndromes or any genetic abnormalities. The data analyzed were based on the records reviewed from 1st January 2018 to 31st May 2021, and ethical approval was obtained. Type of genetic mutations, fetal variables, maternal variables, paternal variables, and association of phenotypic outcomes in an individual born of consanguineous union were evaluated. Results: The study evaluated 529 parents with genetic syndromes or any genetic abnormalities, who were assessed in terms of consanguinity status and outcomes of the most recent pregnancy. It was found that more than half of the parents, 307 (58.0%), had a live baby born with congenital anomalies followed by 102 (19.3%) parents who had a normal live baby, abortions 90 (17.0%), and IUD 6 (1.1%). Conclusion: The incidence increases with the consanguinity, and therefore, it is imperative to educate our population against consanguineous marriages and thereby bring down the incidence of genetic syndromes. Mental and physical disabilities are the main outcomes of these conditions.","PeriodicalId":53559,"journal":{"name":"Journal of SAFOG","volume":"59 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135928122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transient Alterations in Menstrual Pattern Following COVID-19 Vaccination: An Exploratory Survey in Indian Women COVID-19疫苗接种后月经模式的短暂改变:印度妇女的探索性调查

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2303

Priyanka Sharma, Avir Sarkar, Anil Kumar Pandey, Sonam Jindal, Jagadish Chandra Sharma, Namrata Kahlon, Pragathi Kollabathula, Saroj Jaggarwal

引用次数: 0

Worry and Well-being among Pregnant Women during COVID-19 Pandemic: A Cross-sectional Study COVID-19大流行期间孕妇的担忧和幸福感:一项横断面研究

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2309

Sulakshana Shridhar Baliga, Rangaveni Bogolu, Arjun Reddy Kalluru

引用次数: 0

A Retrospective Analysis of 4800 Office Hysteroscopies at a Single Center 单中心4800例宫腔镜回顾性分析

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2317

Vineet V Mishra, Rohina Aggarwal, Smit B Solanki, Khushboo Patel

引用次数: 0

A Case of Mucinous Neoplasm of Appendix with Pseudomyxoma Peritonei and Ovarian Metastasis 阑尾黏液性肿瘤合并腹膜假性黏液瘤并卵巢转移1例

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2066

Manoranjan Mahapatra, Jita Parija, Agniv Sarkar

引用次数: 0

Overview of Neutrophil-to-lymphocyte Ratio and Procalcitonin Level in Preeclampsia and Non-preeclampsia Patients with Confirmed COVID-19 新冠肺炎确诊子痫前期和非子痫前期患者中性粒细胞与淋巴细胞比值及降钙素原水平的研究

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2310

Anak Agung Ngurah Jaya Kusuma, Vinsensius Tommy Wijaya Japola

引用次数: 0

A Comparison of Different Methods of Induction of Labor in Patients of Previous Cesarean Section 既往剖宫产患者不同引产方法的比较

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2287

Ruchika Garg, Rachana Agarwal, Abhilasha Yadav, Divya Yadav Sharma

引用次数: 0

Lower Genital Tract Injuries during Multiparous Vaginal Delivery in Tertiary Hospital of Western India: An Observational Study 下生殖道损伤在多胎阴道分娩在印度西部三级医院:一项观察性研究

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2269

Padmaja N Kumbhar, Padmaja Samant

{"title":"Lower Genital Tract Injuries during Multiparous Vaginal Delivery in Tertiary Hospital of Western India: An Observational Study","authors":"Padmaja N Kumbhar, Padmaja Samant","doi":"10.5005/jp-journals-10006-2269","DOIUrl":"https://doi.org/10.5005/jp-journals-10006-2269","url":null,"abstract":"Background: Maternal expulsive force with direct compression from the fetal head exerts downward force on the pelvic floor during childbirth during childbirth; the pelvic floor is exposed to direct compression from the fetal head and to downward pressure from maternal expulsive efforts. These create alterations in the muscles nerves and connective tissue. As parity increases cumulative effect gives rise to various long-term and short complications. Materials and methods: This present observational study is planned to evaluate the lower genital tract injuries following vaginal delivery with regard to their frequencies, types, severity, and complications. Most of the studies are conducted in primiparas. This study would be conducted in multiparas sustaining lower genital tract injuries; it may help to evolve the checklist of do’s and don’ts. Results: Out of 144 patients studied, 68.7% of patients had previous delivery. Out of which 51.4% had maximum injuries if compared to those with 2 or more injuries. Women with basal metabolic index (BMI) in the overweight and obese categories were more susceptible to lacerations with 2.6 and 1.98 odds ratio respectively. Induction and oxytocin also affect lower genital tract injuries causing a significant increase in their numbers whereas episiotomies have no significant change in lower genital tract injuries. Conclusion: This study would give insight into various factors such as parity, labor induction, prolonged labor, precipitate labor, injudicious use of oxytocin, improper technique of episiotomy, assisted vaginal delivery, and instrumental delivery affecting the lower genital tract.","PeriodicalId":53559,"journal":{"name":"Journal of SAFOG","volume":"261 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135928261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Feto-maternal Outcomes in Patients with Previous Two LSCSs 既往两次lscs患者的胎母结局

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jp-journals-10006-2241

Meena Satia, Arnav Hrishikesh Pai, Nilofer Yelurkar

引用次数: 0

AICOG 2023 Workshop Manual: Scopy in Gynecology AICOG 2023研讨会手册:妇科镜检查

Journal of SAFOG Pub Date : 2023-10-31 DOI: 10.5005/jsafog-15-5-641

Neharika Malhotra, Ruchika Garg

引用次数: 0