Obstetric and neonatal outcomes of the pregnancies complicated with thrombocytopenia

Background: Thrombocytopenia is second most common hematological abnormality in pregnancy after anemia (Incidence 8-10%). The aim of this study is to observe the obstetric and neonatal outcomes of pregnancies complicated with thrombocytopenia and to compare its maternal and fetal outcomes.Methods: The prospective observational study was conducted at tertiary care institute over period of one and half year and 100 cases of thrombocytopenia in present pregnancy were included after fulfilling inclusion and exclusion criteria and obtaining written informed valid consent. Complete history, physical examination and relevant investigations of the patient were documented. Patients were followed up to delivery and outcomes (obstetric, maternal, fetal, neonatal) were studied. The data obtained for all the patients was analyzed with SPSS (SPSS Inc, Chicago) software packages. Statistical comparisons were performed with Pearson’s Chi- square where appropriate with p-value of 37 weeks of gestation. Most (53%) had moderate thrombocytopenia. Incidence of maternal complications was statically significant (P-value 0.038) with most common complication being caesarian section site oozing (9%) followed by placental abruption (4%). There was no statistical significance in degree of thrombocytopenia and need for blood and blood product transfusion (P-value 0.67). Only (2%) neonates of thrombocytopenic mothers had thrombocytopenia and both required treatment.Conclusions: Most common cause of thrombocytopenia in pregnancy was gestational thrombocytopenia with uneventful pregnancy and perinatal outcomes. Few severe cases associated with medical or systematic causes leads to serious catastrophic events which can be avoided by increasing antenatal surveillance and appropriate management by multidisciplinary team of obstetrician, hematologist, anesthesiologist, neonatologist and physician

Evaluation of endometrial causes of postmenopausal bleeding with it's correlation with endometrial thickness and hysteroscopy findings and endometrial tissue histopathology

Background: Postmenopausal bleeding (PMB)accounts for 5% of gynecology visit. All with unexpected uterine bleeding should be evaluated for endometrial carcinoma since this potentially lethal disease is the cause of bleeding in approximately 10 percent patients (range 1 to 25 percent, depending upon risk factors). The aim of the study was to evaluate endometrial causes of postmenopausal bleeding (PMB) with it's correlation with endometrial thickness (ET)and hysteroscopy findings and endometrial tissue histopathology.Methods: A total 50 consecutive cases of PMB fulfilling the inclusion and exclusion criteria and giving informed consent were selected. Each patient was subjected to transvaginal sonography (TVS) in which uterus, adnexa and endometrial thickness (ET) was assessed. Then hysteroscopy and/or dilation and curettage was scheduled at subsequent visit. Endometrial sample was sent for histopathological examination. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and diagnostic accuracy was calculated for ET by TVS and hysteroscopy findings, considering histopathological diagnosis as the gold standard.Results: Most common endometrial cause of PMB was atrophic endometrium (44%). The other causes were endometrial carcinoma (18%), endometrial hyperplasia (18%), endometrial polyp (12%), endometritis (4%), and leiomyoma (4%). The diagnostic accuracy of ET by TVS at a cut-off point of 5 mm was 94% with sensitivity 89.3%, specificity 100%, PPV 100% and NPV 88%. The diagnostic accuracy of hysteroscopy was 98% with sensitivity 96.4%, specificity 100%, PPV 100% and NPV 95.7%.Conclusions: Being relatively cheap, easily accessible, non-invasive, TVS with ET measurement should first line investigation in the evaluation of women with postmenopausal bleeding with suspected endometrial pathology. Although hysteroscopy is more specific and sensitive, in poor resource settings it should be limited to cases with ill-defined endometrial lining, recurrent/ persistent bleeding and cases with endometrial thickness greater than 5 mm irrespective of endometrial echotexture

A rare case of acute non puerperal complete uterine inversion in nulliparous virgin female

Non-puerperal uterine inversion (NPUI) is extremely rare and accounts for 17% of all uterine inversion cases. A few more than 150 cases have been reported amongst which 10-15 have been reported in nulliparous females and 3-4 have been reported in virgin females from 1914 till date. A 40 years unmarried nulliparous female denying sexual activity presented to our hospital with acute non puerperal complete uterine inversion with something coming out per vaginum of sudden onset while straining at defecation, lower abdominal pain and minimal bleeding per vaginum with history of uterine fibroid and chronic constipation. Diagnosis was confirmed with ultrasonography and examination under anaesthesia after written informed valid consent. After detailed counselling and obtaining written informed valid consent, the patient underwent exploration with a combined abdominal-vaginal approach. Following vaginal myomectomy, the uterus was repositioned using Haultain procedure after a failed attempt of Huntington procedure. Total abdominal hysterectomy with bilateral salpingectomy with vaginal vault suspension was done sparing bilateral ovaries. Diagnosis requires a high index of suspicion and their management is a challenge to gynaecologists due to its rare occurrence, distorted pelvic anatomy and associated pelvic organ injuries during surgery. Good anatomical and clinical knowledge along with surgical skills is of utmost importance for successful outcomes

South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine

AbstractPopulation-scale genetic studies can identify drug targets and allow disease risk to be predicted with resulting benefit for management of individual health risks and system-wide allocation of health care delivery resources. Although population-scale projects are underway in many parts of the world, genetic variation between population groups means that additional projects are warranted. South Asia has a population whose genetics is the least characterized of any of the world’s major populations. Here we describe GenomeAsia studies that characterize population structure in South Asia and that create tools for economical and accurate genotyping at population-scale. Prior work on population structure characterized isolated population groups, the relevance of which to large-scale studies of disease genetics is unclear. For our studies we used whole genome sequence information from 4,807 individuals recruited in the health care delivery systems of Pakistan, India and Bangladesh to ensure relevance to population-scale studies of disease genetics. We combined this with WGS data from 927 individuals from isolated South Asian population groups, and developed a custom SNP array (called SARGAM) that is optimized for future human genetic studies in South Asia. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of homozygosity that approach 100 times that seen in outbred populations. We describe founder effects that increase the power to associate functional variants with disease processes and that make South Asia a uniquely powerful place for population-scale genetic studies

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity

Abstract The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.

Acknowledgements: We thank Abhijit Chowdhury, Anamitra Barik, Rajesh Kumar Rai, the Birbhum Health and Demographic Surveillance System, the Parkinson Research Alliance of India (PRAI), Syed Qasim Mehdi (deceased), and Partha Majumder for providing samples and sample metadata. J.D.W., J.R., and D.S. were supported in part by NIH grant R01 HG010689. A.V.K. was supported in part by NIH grants 1K08HG010155 and 1U01HG011719. Sequence data collection was supported by NIH grant 5UM1HG008895 to S.K. and by Genentech Research. We are grateful to all of our colleagues for their support and discussions throughout the course of this work and to all of the participants in this study.The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity.

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity

The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies