Knowledge Regarding Reproductive Tract Infection Among Ever Married Females of Reproductive Age Group in Rural Tamil Nadu.

Background Reproductive tract infection (RTI) is an overgrowth of the normal flora of the reproductive tract. It is an iatrogenic infection caused by unhygienic practices like unsafe abortion. Lack of knowledge plays a major role among the factors associated. The District Level Health Survey (DLHS)-4 reported that the knowledge about RTI among the rural population of Tamil Nadu is 8 percent. It is thus necessary to know about their knowledge regarding RTI. Aim To assess the knowledge regarding reproductive tract infection among the ever-married rural women in the reproductive age group in Kancheepuram district, Tamil Nadu. Settings and design A cross-sectional study was conducted in the rural Kancheepuram district of Tamil Nadu. Materials and methods The sample size calculated was 330. Using multi-stage random sampling, a population proportion to the calculated sample size was used. A standardized questionnaire was used for data collection. Ethical approval was obtained. Statistical analysis used SPSS -21.0 was used for statistical purposes. A chi-square test was applied for significance. P-value <0.05 is considered significant. Results Among 330 females, 166 (50.3%) presented with any symptom of RTIs in the past three months, and 300 (90.9%) have heard about RTIs, with the main source of information being health education by the health care workers (155, 46.9%); 9.1% (31) females had no or poor knowledge regarding the RTIs. Conclusions Because of a lack of knowledge, RTI was prevalent among women in the rural community who were of reproductive age. Regular health education should be given to women who are fertile in order to increase their understanding.

Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.

GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.

Background: Cerebellar ataxia is a disabling neurological symptom with extreme clinical and etiological heterogeneity. Objective: To study the clinical and molecular characteristics in patients with degenerative cerebellar ataxia. Materials and Methods: In this study, 150 South-Indian patients with degenerative cerebellar ataxia underwent a phenotype guided, sequential tiered testing. Phenotypic features studied included cerebellar symptoms, pyramidal and extrapyramidal features, and ophthalmic and systemic findings. Tier one included conventional tests such as short PCR/fragment analysis for spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 12, 17, and 36 and TP-PCR for Friedreich ataxia (FA). Tier two testing comprised next-generation sequencing (NGS)-based strategies reserved for select undiagnosed cases. Results: The clinical features were highly overlapping and had limited specificity, except in autosomal recessive ataxias and SCA 34. The overall diagnostic yield of our study was 49.3%. SCA 1, 2, and 3 were noted in 13 (12.6%), 12 (11.6%) and 14 (13.5%), respectively, out of the 103 tested, and FA was noted in 17/55 (30.9%) patients. SCA subtypes 6, 7, 8, 12, 17, and 36 were absent in the cohort studied. Targeted Sanger sequencing and NGS revealed some rare diagnoses in 17 among the 18 patients tested. Whole exome sequencing uncovered a novel genotype-phenotype association in a sibling-pair with ataxia, dysmorphism, and retinopathy. Conclusion: SCA 1, 2, 3 and FRDA were the most common causes of ataxia. SCA 6, 7, 8, 12, 17, and 36 were absent in the cohort studied. NGS testing revealed several rare forms of ataxia. Clinical features based testing is cost-effective, achieves good genotype-phenotype correlation, and prioritizes variants for further studies.

The Prevalence of Reproductive Tract Infections Based on the Syndromic Management Approach Among Ever-Married Rural Women in Kancheepuram District, Tamil Nadu: A Community-Based Cross-Sectional Study.

Introduction Reproductive tract infections (RTIs) are endemic among developing countries and common among females specifically in the reproductive age group. The sequelae of this lead to infertility. The main reason behind the high prevalence was found to be the lack of awareness about the disease and the stigma toward the disease. Aims and objectives This study aims to assess the prevalence of reproductive tract infection based on the syndromic management approach among ever-married rural women in the reproductive age group in the Kancheepuram District. Methodology This community-based cross-sectional study was conducted in the rural field practice area of Chettinad Hospital and Research Institute during the period from March 2016 to May 2017. The sample size taken was 330, and the sample size was arrived at by multistage random sampling and population proportion to size. Data were collected using a standardized questionnaire of District Level Household Survey 4 (DLHS-4) on RTI/sexually transmitted infections (STIs). Data were then entered in Microsoft Excel (Microsoft Corp., Redmond, WA, USA) and analyzed using SPSS version 21 (IBM Corp., Armonk, NY, USA), and results were interpreted. Results The prevalence of RTI was found to be 50.3%, with the majority (61.3%) of women in the age group of 28-37 years, 52.85% among females living with spouses, and 57.9% from the Hindu community. The prevalence was high among the lower-middle-class and nuclear families. The commonest symptom is vulval itching with 74.09%, and the least is boils with 0.9%. A significant association was noted between RTI and menstrual hygiene practices and socioeconomic status (p < 0.05). Conclusion The prevalence was high among rural females, and the main reason behind it was the stigma and the lack of awareness. Health education using various sources should be provided to get rid of these issues.

A Cross-Sectional Study on Nutritional and Morbidity Status of Children Attending Anganwadi Centers in Andhra Pradesh, India.

Background The health status of children is considered a very important and vital factor for building the future of a growing nation. So providing proper nutrition to the child is very important to enhance the growth of the child. Objectives The present study is intended to assess the nutritional status and morbidity pattern of children attending Anganwadi centers. Materials and methods This community-based cross-sectional study was conducted in children in the age group of 3-6 years attending the Anganwadi centers. By using the simple random sampling technique 13 Anganwadi centers were selected and a sample of 381 children was selected as the study population. Data was entered and analyzed using SPSS version 17 (Chicago: SPSS Inc). Ethical clearance was obtained from the institutional ethical committee (ECR/460/Inst/AP/2013/RR_19). Results The overall prevalence of underweight, stunting, and wasting was 172 (45.2%), 243 (63.8%), and 79 (20.7%), respectively, according to the WHO-recommended classification. It was observed that a high prevalence of morbidity was of anemia, 125 (32.08%), followed by upper respiratory tract infection, 78 (20.48%). Conclusion The present study shows that there are still many children who are malnourished and suffering from anemia in our country, even after 46 years of Integrated Child Development Services (ICDS). As malnutrition is a complex and multi-dimensional issue, comprehensive studies regarding causative, aggravating, and associated factors leading to malnutrition are required to be studied, to know the problem in-depth, and formulate better health policies.

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype.