Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.

Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.

The Molecular Basis of Male Infertility in Obesity: A Literature Review.

The rising incidence of obesity has coincided with rising levels of poor reproductive outcomes. The molecular basis for the association of infertility in obese males is now being explained through various mechanisms. Insulin resistance, hyperglycemia, and changes in serum and gonadal concentrations of adipokines, like leptin, adiponectin, resistin, and ghrelin have been implicated as causes of male infertility in obese males. The effects of obesity and hypogonadism form a vicious cycle whereby dysregulation of the hypothalamic-pituitary-testicular axis-due to the effect of the release of multiple mediators, thus decreasing GnRH release from the hypothalamus-causes decreases in LH and FSH levels. This leads to lower levels of testosterone, which further increases adiposity because of increased lipogenesis. Cytokines such as TNF-α and interleukins, sirtuins, and other inflammatory mediators like reactive oxygen species are known to affect fertility in obese male adults. There is evidence that parental obesity can be transferred through subsequent generations to offspring through epigenetic marks. Thus, negative expressions like obesity and infertility have been linked to epigenetic marks being altered in previous generations. The interesting aspect is that these epigenetic expressions can be reverted by removing the triggering factors. These positive modifications are also transmitted to subsequent generations.

Genital Microbiota and Outcome of Assisted Reproductive Treatment-A Systematic Review.

The balance between different bacterial species is essential for optimal vaginal health. Microbiome includes the host genome along with microorganism genomes and incorporates the biotic and abiotic factors, reflecting the habitat as a whole. A significant difference exists in the composition and number of the human microbiota in healthy individuals. About one-tenth of the total body microbiota exists in the urogenital tract and these can be identified by microscopy and culture-based methods, quantitative PCR, next generation and whole genome sequencing. The trend of delaying the planning of pregnancy to a later age nowadays has resulted in magnifying the use of assisted reproductive treatment (ART). Hence, genital microbiota and its impact on fertility has generated immense interest in recent years. In this systematic review, we searched the available evidence on the microbiota of the genital tract in women undergoing ART and studied the outcomes of IVF in different microbial compositions. Despite the inconsistency of the studies, it is evident that vaginal, cervical and endometrial microbiota might play a role in predicting ART outcomes. However, there is no clear evidence yet on whether the diversity, richness, quantity, or composition of species in the maternal genital tract significantly affects the outcomes in ARTs.

Infantile Sandhoff disease with ventricular septal defect: a case report.

BACKGROUND: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes ß-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration. CASE PRESENTATION: We evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect, neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness. CONCLUSION: Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.

Prevalence, Clinico-Bacteriological Profile, and Antibiotic Resistance of Symptomatic Urinary Tract Infections in Pregnant Women.

Background: Urinary tract infection (UTI) is a common complication in pregnancy. The prevalence varies between countries. This research aims at estimating the prevalence, clinico-bacteriological profile, antibiotic resistance, and risk factor analysis of symptomatic UTI in pregnancy. Method: This is a prospective observational study conducted at the Abdullah Bin Omran Hospital, RAK, UAE, from March 2019 to February 2020. All pregnant women attending the antenatal clinic during this period were given a pre-validated questionnaire for the symptoms of UTI. In symptomatic patients, urine was sent for microscopy, culture, and sensitivity. Women were treated for UTI and were followed up for the rest of the pregnancy. Data analysis was performed by SPSS software version 24 using descriptive statistics and comparisons with significance at a p-value of <0.05. Results: The prevalence of symptomatic UTI was 17.9%. E.coli was the commonest isolate followed by Group B streptococcus. The commonest symptom reported was loin pain and the most common risk factor was diabetes. Women with risk factors are significantly more likely to have culture-positive UTIs. Most of the pathogens were sensitive to cefuroxime and benzyl penicillin. Risk of preterm labor was higher. Conclusions: Regular antenatal care and routine urine testing in all visits are recommended for early detection and treatment of UTI.

COVID-19 in pregnancy: the foetal perspective-a systematic review.

OBJECTIVE: We aimed to conduct a systematic review of the available literature to determine the effects of confirmed cases of COVID-19 in pregnant women from the foetal perspective by estimation of mother to child transmission, perinatal outcome and possible teratogenicity. METHODS: Data sources: eligible studies between 1 November 2019 and 10 August 2020 were retrieved from PubMed, Embase, LitCovid, Google Scholar, EBSCO MEDLINE, CENTRAL, CINAHL, MedRXiv, BioRXiv and Scopus collection databases. English language case reports, case series and cohort studies of SARS-CoV-2 confirmed pregnant women with data on perinatal outcome, congenital anomalies and mother to child transmission were analysed. RESULTS: 38 case reports, 34 cohort and case series describing 1408 neonates were included for evidence acquisition of mother to child transmission. 29 case reports and 31 case series and cohort studies describing 1318 foetuses were included for the evaluation of perinatal outcome and congenital anomalies. A pooled proportion of 3.67% neonates had positive SARS-CoV-2 viral RNA nasopharyngeal swab results and 7.1% had positive cord blood samples. 11.7% of the placenta, 6.8% of amniotic fluid, 9.6% of faecal and rectal swabs and none of the urine samples were positive. The rate of preterm labour was 26.4% (OR=1.45, 95% CI 1.03 to 2.03 with p=0.03) and caesarean delivery (CS) was 59.9% (OR=1.54, 95% CI 1.17 to 2.03 with p=0.002). The most common neonatal symptom was breathing difficulty (1.79%). Stillbirth rate was 9.9 per 1000 total births in babies born to COVID-19 mothers. CONCLUSION: Chances of mother to child transmission of the SARS-CoV-2 virus is low. The perinatal outcome for the foetus is favourable. There is increased chances of CS but not preterm delivery. The stillbirth and neonatal death rates are low. There are no reported congenital anomalies in babies born to SARS CoV-2 positive mothers.

Prevention of childhood obesity in India: Way forward.

Childhood obesity is a burden in developed and developing countries. Overweight and obesity are caused by numerous social and environmental factors that influence people's food habit and physical activity. Role of primary or secondary prevention is the mainstay plan for controlling this epidemic. Various adaptable best practice models are available in the developed nations. However, further research needs to be done to examine the most effective strategies of intervention, prevention, and treatment of obesity in our setting. Through this paper, we would like to highlight best practices and potential interventions to reduce the burden of obesity in India.

Childhood obesity-an insight into preventive strategies.

Childhood obesity is now a global problem throughout the world. The major factors affecting weight regulation and the development of obesity in children are the result of a large number of biological, behavioral, social, environmental, and economic factors and the complex interactions between them that promote a positive energy balance. The changes in the dietary habits with the adoption of sedentary life style increases manifold obesity-related diseases and their complications. An obese child later on grows up to become an obese adult. Therefore, the role of primary prevention along with methodical diet control, behavioral changes, and physical activity are the important strategies against the battle of childhood obesity.

Indian carp (Labeo rohita) gall bladder poisoning-report of four cases in a single family.

The ingestion of Indian carp gallbladder may result in transient hepatitis with subsequent acute renal failure. This case series also illustrates the importance of understanding the use and potential serious complications of alternative medicines. So fish gallbladder poisoning should be considered in unexplained acute renal failure in Chinese and Asian patients. We report four family members who developed acute renal failure and toxic hepatitis at the same time following ingestion of raw Indian carp (Labeo rohita) gall bladder.