Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.

Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident protein WFS1 causes Wolfram syndrome (WS), a rare early-onset neurodegenerative disease that has been linked to mitochondrial abnormalities. Here we demonstrate mitochondrial dysfunction in human induced pluripotent stem cell-derived neuronal cells of WS patients.

Synthetically non-Hermitian nonlinear wave-like behavior in a topological mechanical metamaterial.

Topological mechanical metamaterials have enabled new ways to control stress and deformation propagation. Exemplified by Maxwell lattices, they have been studied extensively using a linearized formalism. Herein, we study a two-dimensional topological Maxwell lattice by exploring its large deformation quasi-static response using geometric numerical simulations and experiments.

Prevalence of nonalcoholic fatty liver disease increased with type 2 diabetes mellitus in overweight/obese youth with polycystic ovary syndrome.

Objectives: Polycystic ovary syndrome (PCOS) increases non-alcoholic fatty liver disease (NAFLD) risk and severity in adults, but data in adolescents with diverse backgrounds are limited. We evaluated NAFLD prevalence and characterized NAFLD risk factors in overweight/obese adolescents by PCOS status.

Methods: Retrospective study of overweight (n=52)/obese (n=271) female adolescents (12-18 years old), evaluated clinically 2012-2020, was conducted comparing PCOS patients to age-matched non-PCOS controls.

Dissecting the immune suppressive human prostate tumor microenvironment via integrated single-cell and spatial transcriptomic analyses.

The treatment of low-risk primary prostate cancer entails active surveillance only, while high-risk disease requires multimodal treatment including surgery, radiation therapy, and hormonal therapy. Recurrence and development of metastatic disease remains a clinical problem, without a clear understanding of what drives immune escape and tumor progression. Here, we comprehensively describe the tumor microenvironment of localized prostate cancer in comparison with adjacent normal samples and healthy controls.

Laparoscopic Sacrocervicopexy Using Ethibond Suture Graft: A Very Economic Yet Effective Fertility Preserving Surgery for Pelvic Organ Prolapse.

Background: The modern era has witnessed a transition to a phase of uterus-preserving surgeries and so holds true for pelvic organ prolapse (POP) surgeries as well. Laparoscopic sacrocervicopexy has become a preferred surgical modality for moderate to severe degrees of POP in most women of the childbearing age group. With the alarming incidences of mesh erosion, synthetic mesh has almost gone off the market.

Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.

Pediatric nephrolithiasis (NL) or Kidney stone disease (KSD) is an untethered topic in Asian population. In Western countries, the annual incidence of paediatric NL is around 6-10%. Here, we present data from West Bengal, India, on lower age (LA, 0-20 years) NL and its prevalence for the first time.

Early Initiation of Breastfeeding Among Adolescent Mothers: A Quality Improvement Study.

Background: The prevalence of early initiation of breastfeeding (EIBF) was found to be low among adolescent postnatal mothers. EIBF is associated with improved parenting skills and better neurodevelopment in babies. We aimed to improve the prevalence of EIBF among teenage mothers to at least 90% through a quality improvement (QI) initiative.

Assessment of Risk Factors and Obstetric Outcome of Adolescent Pregnancies Through a Prospective Observational Analysis.

Background Adolescence is the most crucial stage of life. Early marriage and teenage pregnancy infringe on adolescent girls' social and humanitarian rights. Moreover, it leads to school dropouts and decreased self-autonomy.

Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte.

The aim of the present work was to explore the intriguing association of maternal folate regulator gene polymorphisms and mutations with the incidence of chromosome 21 nondisjunction and Down syndrome birth. We tested polymorphisms/mutations of DNMT3B and RFC1 genes for their association with meiotic errors in oocyte among the 1215 Down syndrome child-bearing women and 900 controls. We observed that 23 out of 31 variants of DNMT3B and RFC1 exhibited an association with meiosis II nondisjunction in maternal age-independent manner.

Assessing variability in breast cancer management across the world: results of a questionnaire survey amongst global international experts in breast cancer management.

Background: Breast cancer is the most common cancer in women worldwide with an estimated 2.3 million breast cancer cases diagnosed annually. The outcome of breast cancer management varies widely across the globe which could be due to a multitude of factors.

Gynaecological Laparoscopic Surgeries in the Omicron Era: Improvising the Management Skills After Lessons Learnt From the Delta Wave.

Background During the peak of the Omicron wave, elective laparoscopic surgeries were restricted; however, semi-emergency and emergency cases were managed despite the limited resources and manpower. We conducted this study to assess the types of gynaecological laparoscopic surgeries performed, the difficulties faced during the Omicron wave, and how we could implement the lessons learnt from the previous Delta wave for better management of gynaecological cases in the Omicron wave. Methodology We conducted a prospective cohort study over a period of three months involving 105 patients who underwent laparoscopic surgeries.

Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.

Background: High triglyceride levels are associated with increased cardiovascular risk, but whether reductions in these levels would lower the incidence of cardiovascular events is uncertain. Pemafibrate, a selective peroxisome proliferator-activated receptor α modulator, reduces triglyceride levels and improves other lipid levels.

Methods: In a multinational, double-blind, randomized, controlled trial, we assigned patients with type 2 diabetes, mild-to-moderate hypertriglyceridemia (triglyceride level, 200 to 499 mg per deciliter), and high-density lipoprotein (HDL) cholesterol levels of 40 mg per deciliter or lower to receive pemafibrate (0.

Visceral Adiposity Index as an Indicator for Menstrual Disturbance, Hormonal and Metabolic Dysfunction in Polycystic Ovarian Syndrome.

Background: Increase in visceral adiposity is characteristic of polycystic ovarian syndrome (PCOS) and is the main cause of insulin resistance and hyperandrogenism. This study tried to compare the visceral adiposity index (VAI) in PCOS women and control population, thereby exploring its correlation with ovarian morphology, hormonal and metabolic dysfunction.

Materials And Methods: Reproductive-age women who fulfilled the Rotterdam criteria for PCOS constituted the cases.

A Prospective Quality Improvement Initiative to Address the Barriers to Postpartum Tubal Ligation Among Multiparous Women.

Background: Unmet need for postpartum tubal ligation (PPTL) is still high in low-middle income countries. The commonly observed barriers are issues with the consent forms, non-availability of operation theater, lack of knowledge, patient desire for more children, partner opposition and social non-acceptance. Considering the unmet need and the barriers, this quality improvement (QI) initiative was conducted to increase the frequency of PPTL among multiparous women by 50% from baseline.

Improving the Acceptance Rate of Centchroman As a Postpartum Contraceptive Through a Quality Improvement Initiative.

Background The unmet need for contraception is two-pronged: a spacing method and a permanent method. Centchroman, a non-hormonal, non-steroidal oral contraceptive, is suitable for both of these purposes. The Government of India provides it free of cost under the name "Chhaya", but its current acceptance rates are lower than expected.

Harnessing Bourdieu's social theory to understand the deteriorating doctor-patient-nurse relationship in West Bengal government hospitals.

Communication patterns between doctors, nurses and patients determine both the efficiency of healthcare delivery, and the job satisfaction of healthcare workers. Job satisfaction is important to ensure retention of the doctor and nurse populations. Incidents of assault against physicians and nurses from relatives and family members of patients have become frequent both in the pre-pandemic and COVID-19 eras.

A Prospective Study on Correlation of First Trimester Crown-Rump Length With Birth Weight.

Background Ultrasound examination has been a crucial part of the evaluation of fetal health during pregnancy. It has become more accurate over the past few decades as a result of advances in radiodiagnostic imaging. While obstetric ultrasonography in the first trimester has been utilized extensively for gestational age assessment and confirmation of fetal viability, the imaging technique has seen little exposure in predicting pregnancy outcomes.