Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study.

Iron-refractory iron deficiency anaemia (IRIDA) is a rare autosomal recessive disorder, distinguished by hypochromic microcytic anaemia, low transferrin levels and inappropriately elevated hepcidin (HEPC) levels. It is caused by mutations in TMPRSS6 gene. Systematic screening of 500 pregnant women with iron deficiency anaemia having moderate to severe microcytosis with no other causes of anaemia were enrolled to rule out oral iron refractoriness. It identified a final cohort of 10 (2.15% prevalence) individuals with IRIDA phenotype. Haematological and biochemical analysis revealed significant differences between iron responders and iron non-responders, with iron non-responders showing lower haemoglobin, red blood cell count, serum iron and serum ferritin levels, along with elevated HEPC (9.47 ± 2.75 ng/mL, p = 0.0009) and erythropoietin (4.58 ± 4.07 µ/mL, p = 0.0196) levels. Genetic sequencing of the TMPRSS6 gene in this final cohort identified 10 novel variants, including seven missense and three frame-shift mutations, with four missense variants showing high functional impact defining the IRIDA phenotype. Structural analysis revealed significant damage caused by two variants (p.L83R and p.S235R). This study provides valuable insights into IRIDA among pregnant women in the Indian subcontinent, unveiling its underlying causes of unresponsiveness, genetic mechanisms and prevalence. Furthermore, research collaboration is essential to validate these findings and develop effective treatments.

The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.

Iron resistance iron deficiency anaemia is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and inappropriately high hepcidin levels. The aetiology of this condition is rooted in genetic variations within the transmembrane serine protease 6 (TMPRSS6) genes, responsible for encoding matriptase-2, a pivotal negative regulator of hepcidin. We conducted a systematic search across four electronic databases, yielding 538 articles in total out of which 25 were finally included and were preceded further, aiming to prognosticate prevalent single nucleotide polymorphisms (SNPs) and detrimental genetic alterations. This review aims to elucidate the effects of various SNPs and pathogenic mutations on both haematological and biochemical parameters, as well as their potential interethnic correlation. Employing bioinformatics tools, we subjected over 100 SNPs to scrutiny, discerning their potential functional ramifications. We found rs1373272804, rs1430692214 and rs855791 variants to be most frequent and were having a significant impact on haematological and biochemical profile. We found that individuals of European ancestry were more prone to have these variants compared to other ethnic groups. In conclusion, this review not only sheds light on the association of TMPRSS6 polymorphism in iron resistance iron deficiency anaemia (IRIDA), but also highlights the critical need for further investigations involving larger sample size and more diverse ethnic groups around the globe. These future studies will be vital for gaining a stronger and more reliable understanding of how these genetic differences are linked to the development of IRIDA.

Role of genomic DNA methylation in PCOS pathogenesis: a systematic review and meta-analysis involving case-controlled clinical studies.

Polycystic ovary syndrome (PCOS) is often associated with aberrant DNA methylation. Despite the advances in diagnostics and treatment of PCOS, the pathophysiological mechanism remains unknown. Several genes are epigenetically dysregulated in PCOS and associated with pathological consequences of PCOS and metabolic comorbidities; however, the methylation status of specific genes and to what extent the genes are deregulated in terms of methylation pattern are unknown. This review aimed to analyse the existing data for specific genes and find conclusive evidence of their involvement in PCOS and associated risks. A comprehensive literature search was conducted in five electronic databases. The case-controlled clinical studies using both PCOS and healthy women and evaluating the methylation pattern without any treatment or intervention were included in the study. A random-effect model was used to extract the data for meta-analysis, and outcomes were expressed as standardized mean difference with a 95% CI. From 541 screened records, 41 studies were included in the review and 21 of them were used for meta-analysis of 20 genes. Meta-analysis revealed a significant global DNA hypomethylation in different tissues and peripheral blood of patients with PCOS compared to healthy controls. Specific gene methylation assessment revealed that genes associated with several functions were significantly hypomethylated and hypermethylated in patients with PCOS. This review provides conclusive evidence of epigenetic deregulation of specific genes in PCOS. These genes can potentially be used to develop diagnostic biomarkers or as targets for personalized therapy.

Cytodiagnosis of bilateral abdominopelvic masses in a postmenopausal woman.

Cytologic diagnosis of ovarian low-grade serous carcinoma.

A randomized controlled trial comparing the efficacy, tolerability, and cost of oral iron preparations in iron-deficiency anemia in pregnancy.

OBJECTIVE: To evaluate the efficacy, tolerability, and cost of four commonly prescribed oral iron preparations: ferrous sulfate (FS), ferrous fumarate (FF), ferrous ascorbate (FA), and carbonyl iron (CI) in the treatment of iron-deficiency anemia (IDA) in pregnant women. METHODS: It was a prospective, randomized, open-label, blinded endpoint (PROBE) design with four parallel active control groups: FS, FF, FA, CI. The primary outcome was the proportion of participants becoming non-anemic (Hb ≥ 11 g%) at the end of the study period. The secondary outcomes were the proportion of participants achieving normal red blood corpuscular indices such as mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration; the proportion of participants achieving normal iron indices such as serum iron, serum ferritin, total iron-binding capacity, and transferrin saturation; and comparison of incidence of any adverse events between treatment groups and comparison of costs of individual drug therapy between treatment groups. RESULTS: One hundred and twenty patients were randomized to four different groups (n = 30). The results of the present study show that all the four iron salts at the dose of 200 mg elemental iron per day were equally effective in improving hemoglobin concentration and other hematological parameters. The adverse effects were more common in the FF group (56.7%). The pharmacoeconomic analysis showed that all the drugs are equally cost-effective. CONCLUSION: To conclude from the results of the present study, it can be said that FS, FF, FA, and CI are equally effective in treating IDA and they can be prescribed interchangeably.

Dynamic model of infected population due to spreading of pandemic COVID-19 considering both intra and inter zone mobilization factors with rate of detection.

Most of the widely populated countries across the globe have been observing vicious spread and detrimental effects of pandemic COVID-19 since its inception on December 19. Therefore to restrict the spreading of pandemic COVID-19, various researches are going on in both medical and administrative sectors. The focus has been given in this research keeping an administrative point of view in mind. In this paper a dynamic model of infected population due to spreading of pandemic COVID-19 considering both intra and inter zone mobilization factors with rate of detection has been proposed. Few factors related to intra zone mobilization; inter zone mobilization and rate of detection are the key points in the proposed model. Various remedial steps are taken into consideration in the form of operating procedures. Further such operating procedures are applied over the model in standalone or hybridized mode and responses are reported in this paper in a case-studies manner. Further zone-wise increase in infected population due to the spreading of pandemic COVID-19 has been studied and reported in this paper. Also the proposed model has been applied over the real world data considering three states of India and the predicted responses are compared with real data and reported with bar chart representation in this paper.

Second trimester medical abortion in a primigravida with lupus nephritis and rapidly progressive renal failure: challenges and outcome.

In the second trimester, medical abortion is preferred as it is less invasive, and the surgical method carries more risk. There is a paucity of published literature on medical abortion in women with renal failure requiring haemodialysis. We came across a woman who presented with rapidly progressive renal failure at 18 weeks of gestation and required therapeutic abortion. We are reporting the challenges, outcomes, and precautions to be taken while performing a medical abortion in such a case.

Safety and efficacy of low dose intramuscular magnesium sulphate (MgSO4) compared to intravenous regimen for treatment of eclampsia.

AIM: This study was performed to compare the safety and efficacy of low dose intramuscular magnesium sulphate (MgSO4) (Dhaka regimen) and intravenous (IV) MgSO4 (Zuspan regimen) for the prevention of eclampsia recurrence and to compare serum magnesium concentration. METHODS: Forty one eligible patients with eclampsia were randomly divided into two groups: group I patients received IV MgSO4 according to the Zuspan regime, while group II patients received intramuscular (IM) MgSO4 according to the Dhaka regimen (i.e. low dose MgSO4). The total dose MgSo4 requirements per patient were calculated and serum MgSo4 level was measured. Maternal and fetal outcomes were compared between the groups. RESULTS: The mean total dose of MgSO4 required for the treatment of eclampsia was higher in group I compared to group II (32 ± 6.8 g vs 25.4 ± 8.8 g, respectively; P < 0.5). The mean serum MgSO4 levels were significantly higher (P < 0.003) in group I compared to group II, although there were no significant differences in seizure recurrence. Statistically, more patients in group I experienced a loss of knee jerk reaction and required dose deferral compared to group II. There was a significantly higher number of babies with poor Apgar scores in group I. Overall the maternal and fetal outcomes were comparable between the groups. CONCLUSIONS: A low dose IM regimen (Dhaka regimen) of MgSo4 is equally efficacious and safe compared to an IV regimen (Zuspan regimen) for the control and prevention of seizures in patients with eclampsia.

A framework of workplace yoga for expectant mothers: A comprehensive review of benefits, safety considerations, and future perspectives.

This review explores the benefits of yoga during pregnancy and considers its implications for working pregnant women, focusing on safety, future directions, and limitations. The physical and psychological changes experienced during pregnancy can lead to increased stress and discomfort, impacting both maternal and fetal health, which may be further augmented by work stress during pregnancy. To address these challenges, various interventions such as yoga, relaxation techniques, and meditation have been proposed. Although there is evidence to support the benefits of yoga at both physical and psychological levels, there is a lack of proper strategies and guidelines for the implications of these interventions among working pregnant women. Incorporating yoga as a safe and cost-effective intervention for managing work-related distress during pregnancy can have significant benefits for both maternal and fetal health. However, careful consideration of safety guidelines, further research on working pregnant women, and exploring optimal implementation strategies are essential to fully harness the potential of yoga in this context. This review aims to provide a comprehensive overview of the current evidence for the benefits and safety of yoga during pregnancy, with a specific focus on working pregnant women. To ensure the scientific rigor of this review, we conducted a systematic search of the PubMed database for high-quality research studies published in peer-reviewed journals.

Women's Experiences Following Peripartum Hysterectomy: A Qualitative Study.

Objective: Peripartum hysterectomy is a major operation and is inevitably performed where certain indications require removal of the uterus at the time of delivery or in the immediate postpartum period. It is a traumatic birth event that affects women's physical, physiological, psychological, social, and sexual health. This study aimed to explore the lived experiences of women undergone peripartum hysterectomy. Materials and methods: Qualitative phenomenological design was adopted to explore the lived experiences of women undergone peripartum hysterectomy. Purposive sampling technique was adopted to enroll the participants and 19 women were interviewed before saturation of responses was reached. All interviews were audio recorded and then transcribed into verbatims. Colaizzi's thematic analysis method was used to analyze the data. Results: Based on participants' verbatims eight major themes emerged: Awareness status regarding peripartum hysterectomy; Body's response to peripartum hysterectomy; Perceived need of support; Facilitators in overcoming post-hysterectomy challenges; Relational turbulence; financial burden; Perceived psychological adaptation; Disturbed body image and low self-esteem. Conclusion: Derived themes in the present study highlighted the multidimensional effects of peripartum hysterectomy. Peripartum hysterectomy affected physical, psychological, sexual and financial health of the women. Increased dependence and changes in the self concept are the other problems faced by peripartum hysterectomy women. Need based individualized psychological therapeutic interventions will facilitate the successful adaptation to the traumatic situation by the reinforcement of positive coping mechanisms.

Health-Related Quality of Life among Elderly Patients in Urban Bangladesh: A Cross-Sectional Study.

Quality of life (QoL) focuses on a person's ability to live a fulfilling life. It helps in determining successful aging in the elderly population. Because of a scarcity of information regarding predictors of QoL in the elderly population in developing countries, this study was undertaken to assess the overall QoL and its predictors in the elderly population in an urban setting of Bangladesh. In this cross-sectional study, 275 participants were enrolled by systematic sampling at the outpatient department of a tertiary care hospital in Dhaka, Bangladesh. Data were collected by using a pretested semi-structured standard questionnaire for QoL (OPQOL-35). Pearson's correlation was used to assess the association between QoL and sociodemographic factors. Multivariate linear regression was conducted to identify predictors of QoL, after controlling for potential confounders. The median age of the participants (n = 275) was 65 years (range, 60 to 85; 25th and 75th percentile, 60 and 68, respectively). The majority (78%) of them were married, and 20% were widowed or divorced. The median score of QoL was 113 (25th and 75th percentile, 101 and 124, respectively). Most of the participants had very poor (bad as can be) or poor (bad) QoL. Only 7.3% were observed to have "good" QoL (scores 140 or more). Females had significantly poorer QoL scores compared to males (p < 0.001). Age, gender, educational status, smoking, and sleep duration significantly predicted QoL in a multiple regression analysis. In conclusion, the QoL of the elderly individuals in Bangladesh was very poor or poor. Future research should focus on service-oriented interventions, especially targeting women. Counseling elderly people to enhance their quality of life may include improving sleep patterns, healthy diets, regular exercise, and caring for their mental health.

A rare case of infection and spontaneous rupture in ovarian mucinous cystadenoma.

Ovarian cysts exhibit variable clinical presentations depending on their size, type and resulting sequelae. Rupture of ovarian cysts is infrequent, and cyst infections are even rarer. Here, we report an unusual case involving a young, non-pregnant woman who presented acutely with features of peritonitis and sepsis and was found to have a complex adnexal mass. Following a rigorous diagnostic evaluation, which included an urgent exploratory laparotomy and salpingo-oophorectomy, common diagnoses including tubo-ovarian abscess, endometriotic cyst and pelvic tuberculosis were ruled out. Instead, she was diagnosed with an ovarian mucinous cystadenoma that had become infected, possibly due to pelvic inflammatory disease, leading to spontaneous rupture. Such a presentation has rarely been reported, especially in a non-pregnant setting. Therefore, we emphasise the importance of considering this rare complication as a potential differential diagnosis in similar clinical presentations and discuss the management implications, including the importance of adequately treating pelvic inflammatory disease.

Mind-body practice as a primer to maintain psychological health among pregnant women-YOGESTA-a randomized controlled trial.

Objective: The objective of this study was to investigate the impact of Gestational Yoga-YOGESTA (Gestational Yoga), on the neuropsychology, quality of life, and personality of pregnant women. Design: Open label, randomized controlled trial, used allocation concealment to allocate the treatment. Setting: Department of Obstetrics and Gynecology and Neuroscience Research Lab, Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Participants: We recruited a total of 100 pregnant women visiting the Outpatient Department of Obstetrics and Gynecology. Participants were aged between 18 and 35 with uncomplicated pregnancies and they were randomly assigned to either the Yoga group (YG) or the usual care group (UCG). A total of 77 pregnant women completed both the pre- and post-survey, with 34 participants in the Yoga group and 43 in the Usual care group. Intervention: Pregnant women in their second and third trimesters were provided with a 16-week online Prenatal Yoga intervention. The intervention began after enrollment in the 2nd trimester, specifically between the 16th and 20th week, and was conducted 5 days a week until delivery, with an average intervention period of 47.18 ± 2.031 (mean ± SEM) days. Chief outcome measures: We measured Perceived stress, Depression, Anxiety, Stress, and quality of life by using standard questionnaires. Results: A total of 77 participants were included in the analysis, with 34 assigned to the Yoga group and 43 assigned to the control group. Most of the measured parameters demonstrated significant changes. The Yoga group exhibited a noteworthy decrease in perceived stress, depression, anxiety, and psychological stress, as well as an improvement in the psychological and environmental domains of QOL-BREF. Conversely, the control group demonstrated a significant increase in perceived stress, depression, anxiety, and psychological stress, along with a reduction in the physical, psychological, and social domains of QOL-BREF at the follow-up stage. Although the two groups were similar at baseline, the Yoga group showed substantial enhancements in perceived stress, depression, anxiety, physiological stress, and overall quality of life when compared to the control group at follow-up. Conclusion: The study's findings indicate that stress, anxiety, and depression are more likely to occur as gestational age progresses during pregnancy. Nevertheless, practicing Prenatal Yoga can effectively manage these changes and enhance the quality of life for expectant mothers.Clinical trial registration: Clinical Trials Registry-India, Identifier CTRI/2021/01/030827.

Prevalence, associated risk factors and effects of hypothyroidism in pregnancy: a study from north India.

BACKGROUND AND OBJECTIVE: There is a controversy regarding universal versus targeted screening for hypothyroidism during pregnancy. We studied the prevalence and the associated risk factors of hypothyroidism. The secondary objective of the study was to compare the maternal and perinatal outcomes in overt and subclinical hypothyroidism. METHODS: We screened 1,005 antenatal patients for hypothyroidism with a thyrotropin assay. Patients diagnosed with hypothyroidism were further tested for anti-thyroid peroxidase antibodies and free thyroxin to determine the cause and type (overt or subclinical) of hypothyroidism. Maternal and perinatal outcomes were compared in the overt, subclinical and euthyroid groups. RESULTS: The overall prevalence of hypothyroidism was 6.3% (overt 2.9% and subclinical 3.4%). Thirty-four (3.4%) new hypothyroid cases could be detected by universal screening. The risk factors for thyroid dysfunction were not significantly different in the screen-positive versus screen-negative patients except for excessive weight gain (p = 0.00). Targeted screening could have missed one third of subclinical hypothyroid cases. Gestational hypertension was significantly greater in the overt hypothyroid group (p = 0.007), and more patients required induction in this group (p = 0.013) but other maternal complications and perinatal outcomes were similar. CONCLUSION: We recommend universal screening for hypothyroidism in pregnancy in our population, as the prevalence of hypothyroidism is high.

Sclerosing Perivascular Epithelioid Cell Tumor of the Uterus: A Rare Entity Posing Diagnostic Challenge.

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal uterine tumor and the histological variant, sclerosing PEComa is exceedingly rare. Sclerosing PEComas preferentially occur in the retroperitoneum and occurrence in the uterine corpus is seldom seen. These tumors pose a diagnostic challenge and need distinction from morphological mimickers such as epithelioid smooth muscle tumors, endometrial stromal sarcoma, and metastatic carcinoma. Accurate diagnosis can be established coupling histomorphology with immunostaining. The distinction from other entities is of prime importance considering the therapeutic and prognostic implications. Herein, we describe a case of uterine sclerosing variant of PEComa with diagnostic difficulties and key to diagnose this entity.

COVID-19 Pandemic and Infertility: Gynecological Dilemma from an Indian Perspective.

As the emaciated healthcare system is attempting to break the tide of the novel coronavirus pandemic across the globe, the highest cost of this fight is being borne by the third world countries. India is currently experiencing the peak incidence of COVID-19 cases. For the last 9 months, non-emergency services including OPDs have been suspended in majority of the hospitals to divert resources for combatting emergency medical care during this deadly pandemic. This temporary pause and containment could be detrimental to even patients suffering from malignancy. During this critical hour, commencement of infertility treatments including assisted reproductive technologies (ART) will add to additional burden upon the crippled medical fraternity. Fate of thousands of patients seems to hang by a fine thread now. In the resource-poor countries, it is our duty to divert maximum medical power to curtail this contagious pandemic rather than focusing on non-urgent treatment services.

Effect of Retinal Injury Induced by Laser Photocoagulation on Visuospatial Memory in Mouse Model.

Visual pathway reveals the connection between neuronal activity of the brain and eye. The neural networks of brain amplify the retinal signals resulting in the formation of visual image. The laser injury in the retina may affect the visual pathway and may lead to disruption of neuronal signals/activity. Therefore, we aimed to study the effect of retinal injury induced by laser on cognitive abilities in laser-induced mouse model. We have established laser model to understand the relation between retina and brain by disrupting retinal pigment epithelial (RPE) layer and evaluate the effect of laser-induced retinal injury on visuospatial memory. Age- and sex-matched C57BL/6J male mice were taken for conducting the experiments. The laser model was established by using laser photocoagulator to disrupt the RPE layer of the retina. After defined irradiation of laser onto mouse retina, the fundus fluorescein angiography was performed to confirm the laser spots. The visuospatial and short-term memory was performed using neurobehavioral test, that is, Morris water maze (MWM), and passive avoidance, respectively. In MWM experiment, results showed that escape latency time, which was taken by healthy and laser-injured mice was comparable. This was further validated by another neurobehavioral analysis, that is, passive avoidance that showed nonsignificant difference between these two groups using independent t -test. Visuospatial memory may not be affected by retinal injury induced by laser photocoagulation. It may depend on the power of the laser and duration of the laser. The severe injury in the retina such as optic nerve damage may cause dysfunctioning of visual pathway.

Chlorhexidine-alcohol versus povidone-iodine as preoperative skin antisepsis for prevention of surgical site infection in cesarean delivery-a pilot randomized control trial.

OBJECTIVES: To compare the efficacy of chlorhexidine-alcohol and povidone-iodine as preoperative antiseptic skin preparation for prevention of surgical site infection (SSI) after cesarean delivery (CD). MATERIALS AND METHODS: A total of 311 eligible women who underwent CS were recruited in the study after fulfilling all the eligibility and exclusion criteria. Patients were randomized into two groups (153 in chlorhexidine-alcohol group and 158 in povidone-iodine group) by a computer-generated randomization table. Patients were followed for a period of 30 days in postoperative period to monitor for SSI. RESULTS: The rate of SSI in the chlorhexidine-alcohol group is 5.4% and that of the povidone-iodine group is 8.6%. E. coli, K. pneumoniae, and Acinetobacter baumannii were the most common organisms isolated. E. coli was found in 9.5% of the total SSI cases. CONCLUSIONS: The study found that the patients who received chlorhexidine-alcohol as skin antiseptic had less chance of developing SSI than those who received povidone-iodine; however, it did not reach a statistical significance. TRIAL REGISTRATION: Clinical Trials Registry of India CTRI/2018/05/014294 . Registered on May 31, 2018.