Molecular Basis of Hydatidiform Moles-A Systematic Review.

Gestational trophoblastic diseases (GTDs) encompass a spectrum of conditions characterized by abnormal trophoblastic cell growth, ranging from benign molar pregnancies to malignant trophoblastic neoplasms. This systematic review explores the molecular underpinnings of GTDs, focusing on genetic and epigenetic factors that influence disease progression and clinical outcomes. Based on 71 studies identified through systematic search and selection criteria, key findings include dysregulations in tumor suppressor genes such as p53, aberrant apoptotic pathways involving BCL-2 (B-cell lymphoma), and altered expression of growth factor receptors and microRNAs (micro-ribose nucleic acid). These molecular alterations not only differentiate molar pregnancies from normal placental development but also contribute to their clinical behavior, from benign moles to potentially malignant forms. The review synthesizes insights from immunohistochemical studies and molecular analyses to provide a comprehensive understanding of GTD pathogenesis and implications for personalized care strategies.

Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1. The onset of symptoms usually occurs between 6 and 18 months, causing developmental regression leading to debilitating symptoms such as muscle weakness, dementia, and loss of basic skills. Eventually, it progresses to life-threatening symptoms, including breathing difficulties, which limit the life expectancy to 5-10 years. While potential genetic therapies for treatment are being developed, they are yet to be approved for use, and management remains essentially supportive. This case report is about a nine-year-old Pakistani girl with INAD. She presented with recurrent chest infections, developmental regression, loss of speech, paralysis, hypertension, and eventually breathing difficulties. Brain magnetic resonance imaging and genetic testing confirmed the diagnosis. This case posed diagnostic challenges in view of its overlapping clinical presentation. Through this report, we aim to raise awareness about this condition among practitioners, outline the importance of genetic counseling in susceptible couples, and suggest potential areas of further research.

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.

A rare variant of mullerian agenesis: a case report and review of the literature.

INTRODUCTION: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here. CASE REPORT: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation. CONCLUSION: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

Prevalence of Polycystic Ovary Syndrome (PCOS) and Its Associated Risk Factors among Medical Students in Two Countries.

INTRODUCTION: PCOS, a common hormonal disorder in women of reproductive age, affects fertility and increases the risks of other diseases. Early detection, risk factor assessment, and intervention are crucial to prevent long-term complications. MATERIALS AND METHODS: This study was conducted using a pre-validated questionnaire at two medical colleges in the UAE and Oman. The first study (UAE) results are already published. Here, we present the findings of the second study (Oman) and compare them. RESULTS AND DISCUSSION: The prevalence of PCOS was 4.6% (n = 7) in Oman and 27.6% (n = 69) in the UAE using the NIH criteria. The most common symptoms were irregular periods, acne, and thinning of hair. Students showed acne as the most prevalent symptom of clinical hyperandrogenism. Omani students showed significantly more acne [70.1% (n = 108) vs. 41.6% (n = 104)], while Emirati students showed a higher prevalence of hirsutism [32% (n = 80) vs. 23.3% (n = 36)]. A higher number of students had irregular periods 30.8% (77/150) in the UAE, although the difference was not statistically significant. The prevalence of PCOS was significantly higher in Emirati medical students than in Omani students (p < 0.05). The prevalence was also lower among medical students in Oman compared to an unselected population, reported by a study that included all consecutive women between 12 and 45 years of age attending a hospital. An increased trend in unhealthy lifestyle practices was observed in the recent study. Obesity was a strong predictor of PCOS symptoms across the populations in both countries (p < 0.05). CONCLUSION: The prevalence of PCOS and clinical signs of hyperandrogenism vary significantly between countries in the MENA region. There is a need to identify specific risk factors associated with PCOS in different populations, explore the genetic basis, and undertake collaborative efforts among healthcare professionals from various disciplines to raise awareness about PCOS and its associated risks.

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.

Osteoporosis Screening and Fracture Risk Assessment Tool: Its Scope and Role in General Clinical Practice.

Osteoporosis is a widely prevalent condition among postmenopausal women characterized by low bone mass and skeletal fragility that increases the risk of fractures specifically in the hip, spine, wrist, humerus, and pelvis. It has become a major public health problem around the world. An osteoporotic fracture affects one in every three women and one in every five men aged 50 and above. Hip and spine fractures are linked to a higher death rate and can cause ambulation problems, depression, chronic pain, independence loss, and persistent discomfort. It not only puts a lot of strain on the individual but also causes a significant cost to society. Osteoporosis is a silent disease that goes unrecognized until a patient develops a pathological fracture. Diagnosis of osteoporosis is based on bone mineral density (BMD) estimation by dual-energy x-ray absorptiometry (DXA) as defined by WHO. However, in many resource-constrained and underdeveloped or low-middle income countries, it is not widely available. There are a number of questionnaire-based techniques available to identify such postmenopausal women and older men who may be at risk of having low BMD and osteoporosis. Our aim of the study is to search and compile such simple yet useful and validated screening and assessment tools for osteoporosis that can help to identify people at risk of having low BMD and the potential candidate who can benefit from BMD estimation in a resource-restricted geographical area or low/middle-income countries and benefit from treatment. Though these tools are not diagnostic can have broader applicability in general clinical practice and usefulness in identifying high-risk individuals and may prove cost-effective. Although it has limitations, FRAX is a widely used osteoporotic fracture risk assessment tool around the globe and when used with femoral neck BMD it has greater accuracy.

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.

Clinical Profile and Outcome of Group B Streptococcal Colonization in Mothers and Neonates in Ras Al Khaimah, United Arab Emirates: A Prospective Observational Study.

BACKGROUND: Maternal Group B Streptococcus (GBS)/Streptococcus agalactiae colonization rates vary worldwide; however, no such recent data are available from the United Arab Emirates (UAE). OBJECTIVE: The objective of this study was to determine the prevalence of GBS colonization among pregnant women attending an antenatal clinic of a hospital in Ras Al Khaimah, UAE, along with the antibiotic sensitivity pattern, the clinical profile and pregnancy (maternal and fetal) outcome. METHODS: This prospective observational study routinely offered rectovaginal swab for GBS to all women attending the antenatal clinic at 35-37 weeks of pregnancy between January and December 2019. MASTASTREP kit and Vitek-2 identification system was used for culture and identification. Women with positive cultures were followed up for any maternal and neonatal complications and the use of intrapartum antibiotic prophylaxis (IAP). RESULTS: A total of 2295 women were included, of which 158 (6.9%) had positive cultures for GBS colonization. The carriage rate was higher in women without any risk factors for early-onset GBS disease (EOGBS) (P < 0.01). The GBS isolates were about 97% susceptible to linezolid and vancomycin, 90% to benzyl penicillin and 95% to ampicillin. Resistance to trimethoprim/sulfamethoxazole, clindamycin, erythromycin, and levofloxacin were about 77%, 57%, 57%, and 10%, respectively. Urinary tract infection in GBS colonized women were more common in those aged ≤30 years (P = 0.009). Fetal outcome was favorable in women receiving IAP for GBS colonization. No neonate had culture proven EOGBS. CONCLUSION: The prevalence of GBS colonization in pregnant women as well as the overall maternal and neonatal complications is low in Ras Al Khaimah, UAE. IAP is effective in preventing early-onset sepsis in newborn, and thus should be initiated in those with GBS colonization. The cultured GBS showed sensitivity to most antibiotics.

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.

Does endothelial dysfunction correlate with endocrinal abnormalities in patients with polycystic ovary syndrome?

To study and critically analyze the published evidence on correlation of hormonal abnormalities and endothelial dysfunction (ED) in polycystic ovary syndrome (PCOS) through a systematic review. The databases including MEDLINE, PubMed, Up-To-Date, and Science Direct were searched using Medical subject handling terms and free text term keywords such as endocrine abnormalities in PCOS, ED assessment in PCOS, ED in combination with insulin resistance (IR), hyperandrogenism (HA), increased free testosterone, free androgen index (FAI), gonadotrophin levels, luteinizing hormone (LH), prolactin, estrogen, adipocytokines to search trials, and observational studies published from January 1987 to September 2015. Authors of original studies were contacted for additional data when necessary. PCOS increases the risk of cardiovascular disease in women. ED, which is a reliable indicator of cardiovascular risk in general population, is seen in most (but not all) women with PCOS. IR, seen in 70% patients with PCOS, is associated with ED in these women, but patients can have normal endothelial function even in the presence of IR. Free testosterone and FAI are consistently associated with ED, but endothelial function can be normal despite HA. Estradiol (not estrone) appears to be protective against ED though estrone is the predominant estrogen produced in PCOS. Increased levels of adipocytokines (visfatin) are promising in predicting ED and cardiovascular risk. However, more studies are required focusing on direct correlation of levels of prolactin, LH, estrone, and visfatin with ED in PCOS.

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.