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. Control population consisted of the same number of non-PCOS women. History of menstrual irregularity and features of hyperandrogenism were noted. Overnight fasting serum hormonal profile on second day of the cycle, oral glucose tolerance test (OGTT) and serum fasting insulin and lipid profile were obtained. Ultrasound evaluation was done simultaneously. Free androgen index (FAI), homeostatic model assessment of insulin resistance (HOMA-IR) and VAI were calculated. RESULTS: Serum androgen levels and OGTT were greater in PCOS women. No significant difference was noted in serum fasting glucose, fasting insulin and lipid profile between cases and controls. Both systolic and diastolic blood pressures were significantly higher among women with PCOS. Mean ovarian volume, antral follicle count, FAI and HOMA-IR were higher in PCOS women. VAI was significantly higher in cases compared to controls. VAI demonstrated a strong negative correlation with number of menstrual cycles per year. Increasing VAI was associated with longer menstrual cycles and correlated positively with greater severity of anovulation. VAI also showed highly significant correlation with fasting blood glucose and statistically significant moderately strong positive correlation with OGTT values at two hours post glucose challenge, systolic blood pressure and mean ovarian volume. There was no demonstrable correlation between androgen levels or HOMA-IR values. CONCLUSION: VAI is higher in women with PCOS. It correlates positively with features of disease severity and ovarian morphology. An assessment of VAI in PCOS women could be predictive of a greater propensity for development of classical metabolic risk factors.

What does it take to achieve microelimination of hepatitis C among incarcerated individuals in Haryana, India?

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Intramyometrial Pregnancy Presenting as Abnormal Uterine Bleeding in Perimenopausal Female.

Abnormal uterine bleeding (AUB) is frequently encountered in the gynecological complaint of perimenopausal female visiting the outpatient department. Beginning in mid-40s, perimenopause is often marked with menstrual irregularities. Intramyometrial pregnancy (IMP) is a rare type of ectopic pregnancy with an incidence of <1% of all ectopic gestation may present as AUB in perimenopausal female. It remains a diagnostic challenge, especially in background of negative pregnancy test with the lesion ultrasonographically mimicking a fibroid with or without degeneration or an adenomyoma. We report the case of a 41-year-old perimenopausal female presenting with AUB not responding to medical management and ultrasound suggestive of degenerative fibroid. Hence, total laparoscopic hysterectomy was done and histopathology revealed the lesion to be IMP. The aim of this case report is to consider this rare entity as a possible cause of AUB in perimenopausal female even in the pretext of negative pregnancy test.

Oral health awareness and practices in pregnant females: A hospital-based observational study.

BACKGROUND: The aim of this study was to assess the oral health awareness, methods adopted to maintain hygiene, prevalent myths regarding oral health in pregnancy, and importance of oral health during pregnancy, to help formulate oral health program for pregnant females in partaking hospital. MATERIALS AND METHODS: A total of 225 pregnant females participated in the study. After complete demographic assessment of participants, a questionnaire was provided to them. Questionnaire included simple multiple choice questions on how they maintained oral hygiene, their oral health status, visit to the dentist, and barriers in seeking treatment. This was followed by a questionnaire regarding common myths and understanding of the importance of oral health during pregnancy which had three choices: true, false, and do not know. The results were expressed in percentages, and one sample t-test for percentages was applied where ever required. RESULTS: Majority of participants self-reported some form of oral health problems with bleeding gums as a chief complaint leading the survey. Around half of the participants had never visited a dentist, and an abundant number of pregnant females reported safety concerns for developing the child as a reason for not taking any treatment during pregnancy. A highly significant number of participants were unaware of the importance of oral health during pregnancy and believed in age-old myths. CONCLUSION: The oral health care still remains on the backseat in care provided to pregnant female. A complete overhaul of understanding through individual, family, and community counseling is required to spread awareness.

First-Trimester Inflammatory Markers for Risk Evaluation of Pregnancy Hypertension.

Introduction: Hypertension in pregnancy is one of the potential causes of maternal and fetal morbidity and mortality. It complicates 7-10% of pregnancies. As of today, prediction of pregnancy hypertension is not possible. Aim and Objectives: Evaluation of pregnancy associated plasma protein-A (PAPP-A), free ß-human chorionic gonadotropin, tumor necrosis factor-α (TNF-α) and interferon gamma (INF-γ) in establishing a biomarker or combination of biomarkers for the early identification of pregnancy hypertension. Methodology: This prospective study was carried out in two phases. Phase I was a cohort study in which 2000 pregnant women were enrolled in their first trimester (11 + 0 to 13 + 6 weeks of gestation) and followed till delivery. Women who developed hypertension were compared with normotensive cohort (women who remained normotensive till term). Phase II was a case-control study. The women who were diagnosed with hypertension in phase I were cases and their controls were matched for gestational age and sample storage time from normotensive cohort population. Two additional proinflammatory markers TNF-α and INF-γ were evaluated in this case-control population. Results: Out of 2000 women, 199 women developed hypertension and 1454 women remained normotensive throughout their pregnancy. Among 199 hypertensive women, 151 (9.13%) cases had gestational hypertension, 45 (2.72%) had preeclampsia (PE) and 3 (0.18%) had eclampsia (E). First trimester mean arterial pressure (MAP) (p < 0.001) and body mass index (BMI) (p < 0.001) were found significantly higher in hypertensive women when compared with normotensive women. Maternal serum levels of PAPP-A (p < 0.001) were significantly low in hypertensive women as compared to normotensive women, while free ß-hCG (p = 0.59) was high, but the difference was not statistically significant. TNF-α (p < 0.001) and INF-γ (p = 0.014) both were high in hypertensive women. When all biomarkers were combined we found the positive predictive value (PPV) of 51.6% an negative predictive value (NPV) of 71.4%. Conclusion: Increased levels of proinflammatory cytokines suggest the role of underlying inflammation in pathogenesis of pregnancy hypertension, and low PAPP-A may be attributed to impaired implantation. Combining biomarkers may improve the prediction of pregnancy hypertension in the early stages of gestation. NPV of 71.4% depicts that if woman has all biomarkers in normal ranges during first trimester, she will have 71.4% chances of remaining normotensive during pregnancy.

Reference centile charts of first-trimester aneuploidy screening & Doppler parameters for Indian population.

BACKGROUND & OBJECTIVES: The risk estimation for foetal aneuploidies in the first trimester of pregnancy uses reference curves based on western data. The objective of this study was to construct the reference curves of first-trimester foetal aneuploidy screening parameters for the Indian women. METHODS: : Cross-sectional data were obtained from 1204 singleton pregnancies between the crown-rump length (CRL) of 40-84 mm. Linear regression models were constructed; the mean, median and standard deviation were derived as a function of CRL. RESULTS: The mean value of CRL was 61.3 mm. The regression analysis showed a significant correlation between all variables and CRL (P< 0.001). There was a positive correlation of CRL with nuchal translucency (NT) (y=0.010x+0.629, R2=0.116) and pregnancy-associated plasma protein-A (PAPP-A) (y=0.107x-1.079, R2=0.173), whereas inverse correlation was seen with free ß-human chorionic gonadotropin (ß-hCG) (y=-0.409x+75.025, R2=0.018) and Doppler parameters pulsatility index (PI) (y=-0.008x+1.924 R2=0.053). The centile charts of NT, PAPP-A, free ß-hCG and uterine artery (Ut A) Doppler PI were constructed. INTERPRETATION & CONCLUSIONS: The reference centile charts of first trimester aneuploidy screening along with Doppler parameters were derived in Indian pregnant women. These centile charts may be used as a reference for clinical use in Indian population.

First-trimester reference centiles of fetal biometry in Indian population.

AIM AND OBJECTIVE: To create crown-rump length (CRL)-based biometric chart for fetus in the first trimester among the Indian population. MATERIAL AND METHODS: Cross-sectional data were obtained from 400 singleton pregnancies between 11 and 14 weeks gestation with a normal outcome. Linear regression models were constructed; the mean and SD were derived as a function of CRL. RESULTS: There was a positive correlation of CRL with nuchal translucency (NT) (y = 0.0102x + 0.6307 R2 = 0.1177), biparietal diameter (BPD) (BPD = 0.032*CRL +0.185 R2 = 0.765), occipito-frontal diameter (OFD), lateral ventricular diameter (LV), abdominal circumference (AC) (AC = 0.944*CRL +9.684 R2 = 0.668), femur length (FL) (FL = 0.222*CRL -4.734 R2 = 0.661), fetal weight (FW) (FW = 1.328*CRL -10.41 R2 = 0.662). The regression models and centile charts of NT, BPD, OFD, LV, AC, and FW were constructed. Taking FW as the independent variable, a linear equation of BPD, AC, and FL to calculate weight was constructed. CONCLUSIONS: The first-trimester centile charts of fetal parameters can be used as a reference for Indian population in the determination of gestational age or other adverse outcomes.

Quantitative assessment of CD44 genetic variants and cancer susceptibility in Asians: a meta-analysis.

CD44 is a well-established cancer stem cell marker playing a crucial role in tumor metastasis, recurrence and chemo-resistance. Genetic variants of CD44 have been shown to be associated with susceptibility to various cancers; however, the results are confounding. Hence, we performed a meta-analysis to clarify these associations more accurately. Overall, rs13347 (T vs. C: OR=1.30, p=<0.004, pcorr=0.032; CT vs. CC: OR=1.29, p=0.015, pcorr=0.047; TT vs. CC: OR=1.77, p=<0.000, pcorr=0.018; CT+TT vs. CC: OR=1.34, p=<0.009, pcorr=0.041) and rs187115 (GG vs. AA: OR=2.34, p=<0.000, pcorr=0.025; AG vs. AA: OR=1.59, p=<0.000, pcorr=0.038; G vs. A allele OR=1.56, p=0.000, pcorr=0.05; AG+GG vs. AA: OR=1.63, p=<0.000, pcorr=0.013) polymorphisms were found to significantly increase the cancer risk in Asians. On the other hand, rs11821102 was found to confer low risk (A vs. G: OR=0.87, p=<0.027, pcorr=0.04; AG vs. GG: OR=0.85, p=<0.017, pcorr=0.01; AG+AA vs. GG: OR=0.86, p=<0.020, pcorr=0.02). Based on our analysis, we suggest significant role of CD44 variants (rs13347, rs187115 and rs11821102) in modulating individual's cancer susceptibility in Asians. Therefore, these variants may be used as predictive genetic biomarkers for cancer predisposition in Asian populations. However, more comprehensive studies involving other cancers and/or populations, haplotypes, gene-gene and gene-environment interactions are necessary to delineate the role of these variants in conferring cancer risk.

Role of maternal factors, PAPP-A, and Doppler in screening for early- and late-onset pregnancy hypertension in Asian population.

OBJECTIVE: To determine the predictive value of biochemical markers, uterine artery Doppler, and maternal factors in predicting early-onset (EO) and late-onset (LO) pregnancy hypertension. METHODOLOGY: All singleton pregnancies between 11 and 13 weeks and 6 days gestation underwent estimation of body mass index (BMI), mean arterial pressure (MAP), uterine artery Doppler pulsatality index (PI, and resistance index), biomarker PAPP-A, and free ß-hCG. Women who developed hypertension were treated as cases and normotensives were taken as controls. The cases were further divided into EO and LO hypertension. The comparison was undertaken by appropriate statistical analysis. RESULTS: Pregnancy hypertension was seen in 399 (13.2%) women. EO hypertension was seen in 153 (38.3%), whereas LO was observed in 246 (61.7%). The significant markers for predicting hypertension in pregnancy were maternal age, BMI, MAP, uterine artery Doppler PI, and PAPP-A. A combination of MAP and BMI was a better predictor (sensitivity and specificity 80% and 52%, respectively) than PAPP-A and Doppler combined (sensitivity and specificity 62% and 52%, respectively). When all the above markers were combined, the sensitivity and specificity of the test was 73% and 70%, respectively. EO hypertension was better predicted compared with LO. The negative predictive value (NPV) of the test was above 90%, suggesting that if a woman had the marker below the cutoff, there was more than 90% chance that she would not develop hypertension later in pregnancy. CONCLUSION: A combination of variables increased the sensitivity and specificity of the test for hypertension in pregnancy. The markers examined were a predictor of EO hypertension, with a high NPV, making it a good screening test.

Association study of inflammatory genes with rheumatic heart disease in North Indian population: A multi-analytical approach.

Rheumatic heart disease (RHD) is an inflammatory, autoimmune disease; occurring as a consequence of group A streptococcal infection complicated by rheumatic fever (RF). An inappropriate immune response is the central signature tune to the complex pathogenesis of RHD. However, some of those infected develop RHD, and genetic host susceptibility factors are thought to play a key role in diseasedevelopment. Therefore, the present study was designed to explore the role of genetic variants in inflammatory genes in conferring risk of RHD. The study recruited total of 700 subjects, including 400 RHD patients and 300 healthy controls. We examined the associations of 8 selected polymorphisms in seven inflammatory genes: IL-6 [rs1800795G/C], IL-10 [rs1800896G/A], TNF-A [rs1800629G/A], IL-1ß [rs2853550C/T], IL-1VNTR [rs2234663], TGF-ß1 [rs1800469C/T]; [rs1982073T/C], and CTLA-4 [rs5742909C/T] with RHD risk. Genotyping for all the polymorphisms was done using PCR-ARMS/PCR/RFLP methods. Multifactor dimensionality reduction and classification and regression tree approaches were combined with logistic regression to discover high-order gene-gene interactions in studiedgenes involved in RHD susceptibility.In univariate logistic regression analysis, we found significant association of variant-containing genotypes (CT&TT) of TGF-ß1 869T/C [rs1982073]; [p=0.0.004 & 0.001, OR (95% CI)=1.65 (1.2-2.3) & 2.25 (1.4-3.6) respectively], variant genotype (CC) of IL-1ß -511C/T [rs2853550]; [p=0.001, OR (95% CI)=2.33 (1.4-3.8)] and IL-1 VNTR [rs2234663]; [p=0.03, OR (95% CI)=5.25 (1.2-23.4)] SNPs with RHD risk. CART analysis revealed that individuals with the combined genotypes of TGF-ß1T/C_ rs1982073 (CT/TT) and IL-1 ß_ rs2853550 (CC) had significantly higher susceptibility for RHD [p=0.0005, OR (95% CI)=5.91 (2.9-12.5)]. In MDR analysis, TGF-ß1 869T>C yielded the highest testing accuracy of 0.562. In conclusion, using multi-analytical approaches, our study revealed important role of TGF-ß1 869T/C [rs1982073] in RHD susceptibility.

Impact of DCC (rs714) and PSCA (rs2294008 and rs2976392) Gene Polymorphism in Modulating Cancer Risk in Asian Population.

Multiple studies have investigated the association of gene variant of Deleted in colorectal carcinoma (DCC) and Prostate Stem cell antigen (PSCA) with various cancer susceptibility; however, the results are discrepant. Since SNPs are emerging as promising biomarker of cancer susceptibility, here, we aimed to execute a meta-analysis of DCC (rs714 A > G) and PSCA (rs2294008 C > T, rs2976392 G > A) polymorphism to demonstrate the more accurate strength of these associations. We followed a rigorous inclusion/exclusion criteria and calculated the pooled odds ratios (ORs) and 95% confidence intervals (CIs). Overall, the pooled analysis showed that the DCC rs714 conferred increased risk of cancer only in Asians (AA vs. GG: OR = 1.86, p ≤ 0.0001; AG vs. GG: OR = 1.43, p = 0.005; GA + AA vs. GG: OR = 1.66, p ≤ 0.0001; AA vs. GG + GA; OR = 1.52, p ≤ 0.004, A vs. G allele: OR = 1.41, p ≤ 0.0001). PSCA rs2294008 was associated with increased overall cancer risk (TT vs. CC: OR = 1.28, p = 0.002; CT vs. CC: OR = 1.21, p ≤ 0.0001; CT + TT vs. CC: OR = 1.24, p ≤ 0.0001; TT vs. CC + CT; OR = 1.17, p ≤ 0.005, T vs. C allele: OR = 1.16, p ≤ 0.0001); however, in stratified analysis this association was limited only to gastric and bladder cancer and the strength was more prominent in Asians. In contrast, the PSCA rs2976392 SNP did not modulate the cancer risk. Therefore, we concluded that rs714 and rs2294008 polymorphism may represent a potential genetic biomarker for cancer risk in Asians and gastric as well as bladder cancer, respectively. However, since our study is limited to Asians and cancer types, further larger studies involving other cancers and/or population, gene-environment interactions and the mechanism of DCC and PSCA gene deregulation are desired to define the role of genotype with overall cancer risk.

Early prediction of hypertension during pregnancy in a low-resource setting.

OBJECTIVE: To evaluate the role of maternal factors, biomarkers, and uterine-artery Doppler in the prediction of hypertension during pregnancy. METHODS: A prospective cohort study was performed between December 2012 and November 2014. All singleton pregnancies between 11 weeks and 13 weeks, 6 days of pregnancy were included. Patients had their body mass index (BMI, calculated as weight in kilograms divided by the square of height in meters), mean arterial pressure, uterine-artery Doppler pulsatility index, and pregnancy-associated plasma protein A (PAPP-A) and free ß-human chorionic gonadotropin levels recorded. Any patients diagnosed with hypertension during follow-up were assigned to the case cohort; all other patients were assigned to the control group. RESULTS: Hypertension during pregnancy was observed in 198 (9.7%) of 2042 patients that attended follow-up. The mean BMI, mean arterial pressure, uterine-artery Doppler pulsatility index, and the PAPP-A level at study enrollment were all significantly correlated with the later development of hypertension (P<0.001 for all variables). The combined sensitivity, specificity, positive predictive value, and negative predictive value of using the investigated parameters to predict hypertension was 76%, 80%, 31%, and 93%, respectively. CONCLUSION: Patient BMI, mean arterial pressure, PAPP-A, and pulsatility index were found to be effective predictors of hypertension during pregnancy. Combining these predictors may be beneficial in selecting individuals for close monitoring and early intervention during pregnancy.

Effect of intrapartum oropharyngeal (IP-OP) suction on meconium aspiration syndrome (MAS) in developing country: A RCT.

OBJECTIVE: Evidence about IP-OP suction and selective tracheal intubation in meconium stained neonates is from developed countries. Little information is available about their role in developing countries with high incidence of meconium staining and MAS. This randomized trial was planned to evaluate the effectiveness of IP-OP suction in meconium stained term neonates on prevention of MAS and reduction of its severity. PATIENTS AND METHODS: Out of 540 meconium stained full term, cephalic presentation, singleton neonates without major congenital malformations born from June'08 to January'09, 31 were excluded and 509 randomized. In the intervention group IP-OP suction was done at the time of delivery of head using a 10 Fr suction catheter with a negative pressure of 100 mmHg. No IP-OP suction was performed in control group. All neonates with MSAF were assessed as vigorous or non-vigorous after birth and provided care as per NRP guidelines 2005. RESULTS: Two hundred and fifty three neonates were randomized to IP-OP suction and 256 to no IP-OP suction. Eighty-two neonates (16%) developed MAS, the primary outcome parameter, with 40 infants in the intervention group (15.8%) and 42 (16.4%) in the non-intervention group (RR 0.86, 95% CI 0.60-1.54). Incidence of severe MAS was comparable (3.55% vs. 2.34%) (P value=0.40). Other variables like requirement of oxygen >48 h (9.8% vs. 10.5%) and mortality (2.7% vs. 1.7%) were also comparable. CONCLUSIONS: IP-OP suctioning did not reduce the incidence or severity of MAS even in a setting of high incidence of MAS in a developing country. The mortality in two groups was comparable.

Barriers and facilitators to development of standard treatment guidelines in India.

This paper describes 15 years' experience of the development process of the first set of comprehensive standard treatment guidelines (STGs) for India and their adoption or adaptation by various state governments. The aim is to shorten the learning curve for those embarking on a similar exercise, given the key role of high-quality STGs that are accepted by the clinical community in furthering universal health coverage. The main overall obstacles to STG development are: (i) weak understanding of the concept; (ii) lack of time, enthusiasm and availability of local expertise; and (iii) managing consensus between specialists and generalists. Major concerns to prescribers are: encroachment on professional autonomy, loss of treating the patient as an individual and applying the same standards at all levels of health care. Processes to address these challenges are described. At the policy level, major threats to successful completion and focused implementation are: frequent changes in governance, shifts in priorities and discontinuity. In the authors' experience, compared with each state developing their own STGs afresh, adaptation of pre-existing valid guidelines after an active adaptation process involving local clinical leaders is not only simpler and quicker but also establishes local ownership and facilitates acceptance of a quality document. Executive orders and in-service sensitization programmes to introduce STGs further enhance their adoption in clinical practice.

Relevance of labor room fetal autopsy in increasing its acceptance.

BACKGROUND: Fetal autopsy is included in the basic protocol of investigating a perinatal death, parental refusal is the main reason for its low rate. AIM: To increase acceptance of fetal autopsy and to provide better counselling to the couple regarding risk of recurrence in future pregnancies. MATERIALS AND METHODS: All cases with antenatally diagnosed congenital anomaly resulting in stillbirth or termination before 20 weeks were offered fetal autopsy and it was performed in labor room itself by the fetal medicine specialist after consents. External and internal examination, photograph, infantogram and karyotyping were done, and relevant tissue was sent for histopathology. Correlation between the ultrasound and autopsy finding was done. RESULTS: Total 674 cases of antenatally detected major congenital anomaly were included in the study. Out of 403 cases of stillbirth and abortion, consent for autopsy was given in 312. Most common defect was cranio-vertebral defect followed by genitourinary anomaly. The autopsy finding correlated with USG findings fully in 63.5% cases, there were additional findings altering diagnosis in 24.7% cases, the diagnosis completely changed in 11.8% cases. CONCLUSION: Autopsy if done in labor room increases its acceptance by the couple. Additional findings on autopsy helped in reaching at diagnosis and counseling accordingly.

Uterine artery embolization: exploring new dimensions in obstetric emergencies.

The role of transcatheter arterial embolization in the management of obstetric emergencies is relatively new and not so commonly used. In the following series, the efficacy of this technique in situations such as scar site ectopic pregnancy, antepartum and postpartum obstetric hemorrhage, especially in the presence of coagulation derangement is presented.

Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley.

BACKGROUND: Phospholipase C epsilon 1 (PLCE1) encodes a member of the phospholipase family of proteins that play crucial roles in carcinogenesis and progression of several cancers including esophageal cancer (EC). In two large scale genome-wide association studies (GWAS) single nucleotide polymorphisms (SNP, rs2274223A>G, rs3765524C>T) in PLCE1 were identified as novel susceptibility loci of esophageal cancer (EC) in China. The aim of the present study was to investigate this finding in Kashmir Valley, a high risk area. MATERIALS AND METHODS: We determined genotypes of three potentially functional SNPs (rs2274223A>G, rs3765524C>T and rs7922612C>T) of PLCE1 in 135 EC patients, and 195 age and gender matched controls in Kashmiri valley by PCR RFLP method. Risk for developing EC was estimated by binary logistic regression using SPSS. RESULTS: The selected PLCE1 polymorphisms did not show independent association with EC. However, the G2274223T3765524T7922612 haplotype was significantly associated with increased risk of EC (OR=2.92; 95% CI=1.30-6.54; p=0.009). Smoking and salted tea proved to be independent risk factors for EC. CONCLUSIONS: Genetic variations in PLCE1 modulate risk of EC in the high risk Kashmiri population.

Signal transducers and activators of transcription (STATs) gene polymorphisms related with susceptibility to rheumatic heart disease in north Indian population.

Rheumatic heart disease (RHD) is the most serious complication of heart that comprises inflammatory reactions in heart valves. Cytokines play a critical role in triggering inflammatory reactions and they activate the Janus Kinase/Signal Transducers and Activators of Transcription (JAK/STAT) signaling pathway. Altered signals of STATs play important roles in the balance between proinflammatory and anti-inflammatory cytokines in inflammatory diseases. The aim of the present study was to investigate for the association of polymorphisms related with STAT genes, i.e. STAT3 (rs4796793 C/G) and STAT5b (rs6503691 C/T) with the pathogenesis of RHD. This case-control association study involved 300 healthy controls and 400 RHD patients from North Indian Population. We categorized RHD patients into two subgroups based on involvement of heart valves, mitral valve lesion alone (MVL), and combined valve lesions including mitral valve (CVL). Genotyping was done by RFLP/Taqman probes. We observed that STAT3 CG and GG genotypes were significantly associated with RHD (p=0.030 and p=0.014 respectively), STAT5b CT and TT genotypes were also significantly associated with RHD (p≤0.001). Haplotype analysis revealed that minor alleles of both the variants (Grs4796793Trs6503691) were significantly associated (p<0.0001) with increased risk of the disease susceptibility irrespective of gender or age of onset of the disease. However, the polymorphisms were not involved in severity of RHD as both MVL and CVL patients were equally affected. STAT Grs4796793Trs6503691 carriers may have reduced production of STAT3 leading to damage of heart valves. Thus, STAT genes polymorphisms may be useful markers for the identification of individuals with high risk of RHD in the susceptible population.

Postnatal outcome of congenital anomalies in low resource setting.

OBJECTIVE: This study aimed to determine the postnatal outcome of congenital malformations in a tertiary care hospital of India. MATERIAL AND METHODS: This was a prospective study of all women with prenatally detected major congenital malformations. Postnatal follow-up of live born babies was carried out for 1 year. RESULTS: There were 574 cases with major congenital anomalies, 523 of which were fully followed. Only 69 women (13.6%) had the initial scan before 20 weeks of gestation. Craniospinal defects were the most common (42.7%), followed by genitourinary anomalies (28%). There was no live birth in cases such as anencephaly, iniencephaly, bilateral renal agenesis, gastroschisis, and cystic hygroma. Survival at 1 year was less than 25% in spina bifida, bilateral cystic kidneys, complex cardiac disease, and non-immune hydrops fetalis. In cases with mild hydrocephalus or unilateral and mild renal disease, the survival was over 75%. CONCLUSION: In India, the majority of congenital anomalies present late in gestation. Although fetal outcome is invariably poor for severe defects, existing legislation in the country leaves pregnancy continuation as the only option.