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1.
Gene ; 919: 148501, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-38670395

RESUMEN

HOX genes constitute a family of evolutionarily conserved transcription factors that play pivotal roles in embryonic development, tissue patterning, and cell differentiation. These genes are essential for the precise spatial and temporal control of body axis formation in vertebrates. In addition to their developmental functions, HOX genes have garnered significant attention for their involvement in various diseases, including cancer. Deregulation of HOX gene expression has been observed in numerous malignancies, where they can influence tumorigenesis, progression, and therapeutic responses. This review provides an overview of the diverse roles of HOX genes in development, disease, and potential therapeutic targets, highlighting their significance in understanding biological processes and their potential clinical implications.


Asunto(s)
Genes Homeobox , Neoplasias , Humanos , Neoplasias/genética , Neoplasias/terapia , Neoplasias/patología , Animales , Progresión de la Enfermedad , Regulación Neoplásica de la Expresión Génica , Carcinogénesis/genética , Proteínas de Homeodominio/genética , Proteínas de Homeodominio/metabolismo
4.
Trop Doct ; 53(2): 271-275, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36705083

RESUMEN

Cervical agenesis or dysgenesis is a rare Mullerian anomaly that is usually associated with vaginal aplasia. A literature review revealed reports of 83 cases including ours, of which 57 (68.6%) presented with obstruction of the external OS, 11 (13.2%) had the cervix replaced by a fibrous cord and 5 (6.02%) had a fragmented cervix. A total of 24 (28.9%) were managed by core and drilling technique (CDT), 16(19.2%) patients underwent uterovaginal anastomosis (UVA), 7(8.4%) underwent total abdominal hysterectomy preserving the ovaries and 5 (6.02%) were managed by cervical reconstruction. Unfortunately, 31 failed to return after their clinical and radiological diagnosis was confirmed. Early diagnosis and treatment are necessary to avoid long-term complications.


Asunto(s)
Procedimientos de Cirugía Plástica , Anomalías Urogenitales , Femenino , Humanos , Cuello del Útero/diagnóstico por imagen , Cuello del Útero/cirugía , Útero/diagnóstico por imagen , Útero/cirugía , Histerectomía , Anomalías Urogenitales/cirugía
5.
Apoptosis ; 28(5-6): 683-701, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36652131

RESUMEN

Cervical cancer is the fourth most common cancer affecting women worldwide after breast, colorectal and lung cancers. Owing to a lack of awareness and resources, low- and middle-income countries bear most of the burden of cervical cancer. In developed countries, the incidence rate has been halved over the past three decades due to robust screening and implementation of vaccine programs. HPV is not the sole cause of cervical cancer but acts as a principal factor in the pathogenesis of cervical cancer. By integrating into the host genome, its oncogenic proteins (E6 and E7) alter and interfere with the standard signal transduction machinery of the host. Apoptosis is a key pathway affected by aberrant genetic mutations, polymorphisms and epigenetic mechanisms during cervical carcinogenesis. Along with DNA methylation and histone modifications, non-coding RNAs have also been implicated as epigenetic modulators in various malignancies and are being explored for reversing disease severity. This review emphasizes various genetic and epigenetic approaches regulating apoptotic pathways and HPV E6 and E7 genes that can be targeted to overcome the challenges in cervical cancer treatment. In addition, it also discusses the apoptosis targeting novel drug molecules in cervical cancer which are currently undergoing clinical and pre-clinical trials.


Asunto(s)
Proteínas Oncogénicas Virales , Infecciones por Papillomavirus , Neoplasias del Cuello Uterino , Humanos , Femenino , Neoplasias del Cuello Uterino/genética , Neoplasias del Cuello Uterino/patología , Virus del Papiloma Humano , Proteínas E7 de Papillomavirus/genética , Proteínas E7 de Papillomavirus/metabolismo , Infecciones por Papillomavirus/genética , Infecciones por Papillomavirus/diagnóstico , Epigénesis Genética , Papillomavirus Humano 16/genética , Papillomavirus Humano 16/metabolismo , Apoptosis/genética , Proteínas Oncogénicas Virales/genética
6.
J Family Med Prim Care ; 11(10): 6029-6035, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36618142

RESUMEN

Introduction: This article aims to discuss all the challenges faced in the diagnosis of coronavirus disease 2019 (COVID-19) in pregnancy, isolation of suspected and positive patients, their management, and the strategies to prevent the transmission of infection among the healthy population and medical fraternity. The diagnosis of COVID in pregnancy is influenced by many factors, including normal physiological changes in pregnancy, comorbid conditions associated with pregnancy, and the presence of asymptomatic infection in patients. Suspicion of COVID-19 in pregnant females is of utmost importance at a primary health center for risk mitigation of exposure to medical personnel. Material and Methods: A retrospective study was carried out in the labour room in a tertiary care center in India. Two groups were made, suspected COVID and confirmed COVID in pregnant patients. The case records were analysed. Results: Out of a total of 5164 admissions, 95 patients were admitted as suspected (1.8%), but only two patients were COVID-positive amongst them. 84% of COVID-positive patients were asymptomatic. Fever was the most common symptom in both groups (P-value: 0.15). Preeclampsia and anaemia were the most common comorbidities in both groups, not statistically significant. There were 32% of intensive acre unit (ICU) admissions in suspected COVID patients, and 77% of them were having respiratory distress. Conclusion: COVID-19 presents as an asymptomatic infection in most pregnant patients. Physiological changes to the cardiorespiratory and immune systems along with associated comorbidities in pregnancy, increase a woman's susceptibility and delay diagnosis. Consideration of patients as suspected COVID at triage stations on the basis of only contact or travel history poses a great burden on the health care system. Although triage is an essential tool to identify symptomatic COVID patients, universal testing strategies should continue simultaneously. Streamlining medical care professionals into self-sufficient teams ensures adequate clinical coverage amongst the suspected COVID, confirmed COVID, and routine labour room admissions.

7.
Cureus ; 13(9): e17792, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34660002

RESUMEN

Background Adnexal torsion is an acute gynecological emergency presenting with acute abdomen which can be missed owing to non-specific symptoms. Among reproductive-age women, conservative surgery is preferred. The present study was a retrospective analysis of adnexal torsion cases reported to a tertiary care teaching hospital in Northern India. The purpose of the study was to describe the demography, clinical features, diagnostic and treatment modalities, and prognosis of adnexal torsion cases. Methods Surgically proven adnexal torsion case records were retrieved and data were entered in an excel sheet from a period of two and half years from January 2018 to June 2020. Results There were 28 cases with an age range of 7-85 years (median age 24 years) with lower abdominal pain and nausea/vomiting symptoms. The majority were in the reproductive age group (71.4%). A Colour Doppler was done which detected 75% (12/16) of the ovarian torsion cases. The size of the adnexal torsion was 5-10 cm in 60.7% with right-sided torsion seen in 57.14%. Detorsion and salpingo-oophorectomy was done in 14 (50%) and 11 (39.2%) cases, respectively. Histopathological examination revealed hemorrhagic/necrotic infarcts (54.2%) and dermoid cysts (33.3%). Conclusions Owing to non-specific symptoms, adnexal torsion is diagnosed with strong clinical suspicion as routine ultrasonography diagnosed only 7.1% in the present study. Conservative surgery is preferred in the reproductive age group.

8.
J Cancer Educ ; 36(4): 844-849, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-32112367

RESUMEN

Lack of awareness of screening methods, risk factors, and symptoms may lead to late diagnosis and poor prognosis of cervical cancer. The plan of this study was to assess the level of awareness about cervical cancer and HPV vaccine among females of rural and urban areas of Haryana, India. This cross-sectional study was performed using a comprehensive self-designed questionnaire on 1500 women of urban (700) and rural (800) background aged 18-65 years, evaluating their knowledge for cervical cancer and screening, HPV infection and its preventive measure, and symptoms and risk factors. Data obtained was analyzed and interpreted by using simple percentages and bar charts. Most of the participants were aged between 21 and 30 years and had college level education. Majority of the women from rural areas had poor knowledge about cervical cancer (55%) and its screening (75%), HPV infection (87.5%), and HPV vaccine (95%) compared with urban areas. Knowledge about symptoms and risk factors was very low in both rural and urban areas. Whatever little knowledge the women had about cervical cancer was from college education, friends, neighbors, relatives, and medical practitioner or doctors. The survey pointed to the critical need to educate women about cervical cancer and its early diagnosis, related risk factors, symptoms, and preventive measures which can be achieved by launching extensive awareness programs for educating females about cervical cancer in India.


Asunto(s)
Infecciones por Papillomavirus , Vacunas contra Papillomavirus , Neoplasias del Cuello Uterino , Adulto , Estudios Transversales , Detección Precoz del Cáncer , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , India , Infecciones por Papillomavirus/diagnóstico , Infecciones por Papillomavirus/prevención & control , Encuestas y Cuestionarios , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/prevención & control , Adulto Joven
9.
Mol Biol Rep ; 47(12): 9725-9732, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33230782

RESUMEN

Persistent infection with oncogenic HPV and downregulation of tumor suppressor genes play an essential role in the development and progression of cervical cancer. The present study aimed to identify the promoter methylation status of APC, SFRP1, and PTEN which are important regulators of Wnt pathway and their association with high-risk HPV infection and gene expression. Methylation Specific PCR (MSP) and quantitative reverse transcription PCR (RT-qPCR) were used to detect methylation status and gene expression levels of APC, SFRP1, and PTEN in cervical cancer biopsies (110) and paired non-cancerous biopsies (28). APC promoter was methylated in 38%, SFRP1 in 95%, and PTEN in 55% of the cervical cancer biopsies. Our data showed a trend of a higher rate of methylation of the gene promoters in cervical cancer biopsies while; they were majorly un-methylated in non-cancerous biopsies. Corresponding to a higher rate of methylation in cancer biopsies, the gene expression levels of APC, SFRP1, and PTEN were reduced in cervical cancer samples in comparison to normal cervix tissues. Further, we observed that 97% cancer biopsies were HPV infected and high-risk type HPV16 and 18 infections were significantly positively associated with APC (p = 0.008 and p = 0.007), SFRP1 (p = 0.003 and p = 0.0067), and PTEN (p = 0.049 and p = 0.008) promoter methylation. APC, SFRP1, and PTEN promoter hyper-methylation is positively associated with high-risk HPV infection and inversely associated with gene expression. Our findings show that high-risk HPV infection promotes methylation of these genes and further promotes their silencing.


Asunto(s)
Proteína de la Poliposis Adenomatosa del Colon/genética , Péptidos y Proteínas de Señalización Intercelular/genética , Proteínas de la Membrana/genética , Fosfohidrolasa PTEN/genética , Infecciones por Papillomavirus/complicaciones , Neoplasias del Cuello Uterino/genética , Metilación de ADN , Epigénesis Genética , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , India , Persona de Mediana Edad , Regiones Promotoras Genéticas , Neoplasias del Cuello Uterino/etiología
10.
Am J Transl Res ; 12(6): 2814-2826, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32655812

RESUMEN

Cervical cancer is the fourth most common type of cancer in women worldwide, and associated mortality is highest in developing countries like India. Limited studies are available on the role of NOTCH signaling pathway and promoter methylation in cervical cancer. In the current study, we investigated the promoter methylation status of NOTCH receptor genes (mainly NOTCH1, NOTCH2, and NOTCH3) and its correlation with gene expression, clinicopathological factors, and prognosis of cervical cancer. A total cohort of 110 cervical cancer patients of North Indian origin was enrolled in the study. From 28 of these patients, biopsies from adjacent non-cancerous tissue were available to serve as healthy controls. Promoter methylation status and mRNA expression level of NOTCH1, NOTCH2, and NOTCH3 were determined by methylation-specific PCR (MSP) and real-time quantitative (RT-qPCR), respectively. NOTCH1 and NOTCH3 promoters were methylated in 92% (P<0.0001), and 61% (P<0.001) of the cervical cancer biopsies. We did not observe a statistically significant change in the promoter methylation level of NOTCH2. Further, NOTCH1, NOTCH2, and NOTCH3 were down-regulated in cervical cancer biopsies, but the differential expression of only NOTCH1 was found statistically significant. The promoter methylation levels of all three genes also showed a statistically significant association with clinicopathological factors and HPV infection (Type 16 and 18) but we did not observe a statistically significant relationship between their methylation status and gene expression. Overall our results provide evidence of the altered methylation and expression status of NOTCH1 and NOTCH3 receptor genes in cervical cancer. This study of NOTCH gene promoter methylation may provide a new perspective for early screening and diagnosis of cervical cancer.

11.
Lancet Glob Health ; 7(12): e1706-e1716, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31708151

RESUMEN

BACKGROUND: Intravenous iron sucrose is a promising therapy for increasing haemoglobin concentration; however, its effect on clinical outcomes in pregnancy is not yet established. We aimed to assess the safety and clinical effectiveness of intravenous iron sucrose (intervention) versus standard oral iron (control) therapy in the treatment of women with moderate-to-severe iron deficiency anaemia in pregnancy. METHODS: We did a multicentre, open-label, phase 3, randomised, controlled trial at four government medical colleges in India. Pregnant women, aged 18 years or older, at 20-28 weeks of gestation with a haemoglobin concentration of 5-8 g/dL, or at 29-32 weeks of gestation with a haemoglobin concentration of 5-9 g/dL, were randomly assigned (1:1) to receive intravenous iron sucrose (dose was calculated using a formula based on bodyweight and haemoglobin deficit) or standard oral iron therapy (100 mg elemental iron twice daily). Logistic regression was used to compare the primary maternal composite outcome consisting of potentially life-threatening conditions during peripartum and postpartum periods (postpartum haemorrhage, the need for blood transfusion during and after delivery, puerperal sepsis, shock, prolonged hospital stay [>3 days following vaginal delivery and >7 days after lower segment caesarean section], and intensive care unit admission or referral to higher centres) adjusted for site and severity of anaemia. The primary outcome was analysed in a modified intention-to-treat population, which excluded participants who refused to participate after randomisation, those who were lost to follow-up, and those whose outcome data were missing. Safety was assessed in both modified intention-to-treat and as-treated populations. The data safety monitoring board recommended stopping the trial after the first interim analysis because of futility (conditional power 1·14% under the null effects, 3·0% under the continued effects, and 44·83% under hypothesised effects). This trial is registered with the Clinical Trial Registry of India, CTRI/2012/05/002626. FINDINGS: Between Jan 31, 2014, and July 31, 2017, 2018 women were enrolled, and 999 were randomly assigned to the intravenous iron sucrose group and 1019 to the standard therapy group. The primary maternal composite outcome was reported in 89 (9%) of 958 patients in the intravenous iron sucrose group and in 95 (10%) of 976 patients in the standard therapy group (adjusted odds ratio 0·95, 95% CI 0·70-1·29). 16 (2%) of 958 women in the intravenous iron sucrose group and 13 (1%) of 976 women in the standard therapy group had serious maternal adverse events. Serious fetal and neonatal adverse events were reported by 39 (4%) of 961 women in the intravenous iron sucrose group and 45 (5%) of 982 women in the standard therapy group. At 6 weeks post-randomisation, minor side-effects were reported by 117 (16%) of 737 women in the intravenous iron sucrose group versus 155 (21%) of 721 women in the standard therapy group. None of the serious adverse events was found to be related to the trial procedures or the interventions as per the causality assessment made by the trial investigators, ethics committees, and regulatory body. INTERPRETATION: The study was stopped due to futility. There is insufficient evidence to show the effectiveness of intravenous iron sucrose in reducing clinical outcomes compared with standard oral iron therapy in pregnant women with moderate-to-severe anaemia. FUNDING: WHO, India.


Asunto(s)
Anemia Ferropénica/tratamiento farmacológico , Sacarato de Óxido Férrico/administración & dosificación , Hierro/administración & dosificación , Administración Intravenosa/efectos adversos , Administración Oral , Adolescente , Adulto , Femenino , Humanos , India , Embarazo , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Adulto Joven
12.
Drug Metab Rev ; 51(4): 612-622, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31549867

RESUMEN

As 15-20% of reproductive aged females are suffering from polycystic ovary syndrome (PCOS), a large number of pharmacological preparations are frequently available in the market for the treatment of PCOS; however, they seem to be ineffective and cause undesirable side effects. This has emphasized the need to optimize dosage regimens for individualized treatment. The objective of this systematic review is to review single nucleotide polymorphisms (SNPs) associated with drugs used for the treatment of PCOS to understand pharmacogenetics variability of patients to drug response there by helping clinicians in designing tailored treatments and possibly reducing adverse drug reactions. A comprehensive electronic literature search was conducted to highlight some clinically relevant SNPs that act to influence PCOS and associated co-morbidities. A total of 16 studies were included in this review. These genetic variations can be used as a potential target for pharmacotherapy and pharmacogenetic clinical trials for better diagnosis, management, and treatment planning.


Asunto(s)
Síndrome del Ovario Poliquístico/tratamiento farmacológico , Síndrome del Ovario Poliquístico/genética , Femenino , Humanos , Farmacogenética , Polimorfismo de Nucleótido Simple
13.
Diabetes Metab Syndr ; 13(2): 985-987, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31336556

RESUMEN

OBJECTIVE: To estimate the level of 25 (OH)vitamin D in gestational diabetes mellitus (GDM) and to find the correlation between level of 25(OH)vitamin D and GDM. MATERIALS AND METHODS: The study was conducted on 50 diagnosed patients of GDM attending antenatal clinic in the obstetrics and gynecology department of Pt. B.D. Sharma PGIMS, Rohtak. 50 age and gestational age matched normoglycemic women were taken as control group. Procedure of study was explained to the participants and informed consent was taken. RESULTS: GDM women had higher age, BMI, and positive family history of type 2 DM as compared to pregnant women without GDM. The mean vitamin D in GDM women was 32.64 ±â€¯24.33 nmol/L while in controls it was 39.90 ±â€¯21.86 nmol/L(P = 0.033). The prevalence of severe vitamin D deficiency(<25 nmol/L) was found to be 44% among GDM women (22 out of 50 GDM women) and 20% among women with normoglycemia (10 out of 50 normoglycemic controls) with significant p value of 0.010 and odds ratio of 1.833. GDM women with BMI>25 kg/m2 had 1.799 times chances to be severely deficit in vitamin D than women with BMI<25 kg/m2 6 GDM women had mild vitamin D deficiency (>50 but <75 nmol/L) and 16 had moderate deficiency (>25 but <50 nmol/L). Only 6 GDM patients were found to be sufficient for vitamin D(>75 nmol/L). CONCLUSION: Severe vitamin D deficiency in second trimester of pregnancy is significantly associated with elevated risk for GDM.


Asunto(s)
Biomarcadores/sangre , Diabetes Gestacional/etiología , Deficiencia de Vitamina D/complicaciones , Vitamina D/análogos & derivados , Vitaminas/sangre , Adulto , Estudios de Casos y Controles , Estudios Transversales , Diabetes Gestacional/sangre , Diabetes Gestacional/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Embarazo , Prevalencia , Pronóstico , Factores de Riesgo , Vitamina D/sangre , Adulto Joven
14.
Int J Gynaecol Obstet ; 146(3): 370-379, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31220344

RESUMEN

OBJECTIVE: To assess the prevalence and risk factor profile of polycystic ovary syndrome (PCOS) in Haryana, India. METHODS: A large-scale cross-sectional study was conducted among women of reproductive age in Haryana between December 2015 and May 2017. A random multi-stage stratified sampling method was adopted. PCOS screening was based on questionnaires. Blood samples for hormonal analysis were collected from those with probable and definitive PCOS cases. Women with menstrual irregularities (MI), hyperandrogenism (HA), and polycystic ovaries (PCO) (Rotterdam criteria) were included. Females with thyroid disease, hyperprolactinemia, and adrenal hyperplasia were excluded. RESULTS: Among total 2400 women screened, 94 (4.21%) had PCOS. The PCOS phenotypes were 30% clinical HA (hirsutism, H), 64% biochemical HA, 35% PCO, 16% H+MI, 10% MI+PCO, 52% MI+HA, 14% PCO+H, and 19% PCO+H+HA. Overall, 67 (71%) of the women with PCOS resided in urban regions and 27 (29%) in rural regions. CONCLUSION: Among the women with PCOS, a considerably higher proportion resided in urban regions of Haryana. The difference may be attributed to lifestyle and dietary factors. Ignoring PCOS may put women at risk of serious long-term health consequences that are difficult to manage. Lifestyle changes and continuous surveys should be promoted for better management.


Asunto(s)
Síndrome del Ovario Poliquístico/epidemiología , Adulto , Estudios Transversales , Femenino , Hirsutismo/epidemiología , Humanos , India/epidemiología , Fenotipo , Síndrome del Ovario Poliquístico/sangre , Prevalencia , Factores de Riesgo , Población Rural/estadística & datos numéricos , Población Urbana/estadística & datos numéricos
15.
Syst Biol Reprod Med ; 65(5): 400-408, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30958034

RESUMEN

Altered folliculogenesis and reproductive anomalies in polycystic ovary syndrome (PCOS) suggest that variations of genes involved in folliculogenesis might influence etiopathogenesis of this syndrome. The objective of this study was to assess the association of LHß (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. Three hundred women of reproductive age were enrolled in this retrospective case-control study. Rotterdam Criteria was used to diagnose PCOS patients. Nucleotide mutations of LH and LHR gene was analyzed using polymerase chain reaction-restriction fragment length polymorphism. High LH levels were found in 88% of PCOS patients. LHß TC and CC genotypes were significantly associated with PCOS risk (OR [odds ratio] 13.95, CI [confidence interval] 6.30-30.86, p < 0.0001 and OR 3.31, CI 1.30-8.41, p = 0.01). The frequency of the C allele was 0.31 in PCOS and 0.02 in controls (OR 18.80, CI 8.54-41.37, p < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50-10.31, p < 0.0001). The frequency of the A allele was 0.51 in PCOS and 0.03 in controls (OR 26.62, CI 13.99-50.65, p < 0.0001). The results show an association between polymorphism of LHß, LHR and PCOS, indicating that variants of these genes may affect the metabolic pathways involved in this syndrome. Majority of the affected women were found to have elevated LH levels. This study sheds new light in the diagnosis, treatment and management of PCOS syndrome. Abbreviations: AUC: area under curve; BMI: body mass index; C: cholesterol; CI: confidence interval; DBP: diastolic blood pressure; DHEAS: dehydroepiandrosterone sulfate; FG: Ferriman-Gallway; FSH: follicle stimulating hormone; GHQ: general health questionnaire; HA: hyperandrogenism; HDL-C: high-density lipoprotein cholesterol; HOMA-IR: homeostatic model assessment for insulin resistance; HWR: hip waist ratio; LDL-C: low-density lipoprotein cholesterol; LH: luteinizing hormone; LH: luteinizing hormone; LHR: lutropin receptor; O: oligomenorrhea; OR: odds ratio; PCO: polycystic ovaries; PCO: polycystic ovary; PCOS: polycystic ovary syndrome; PCR: polymerase chain reaction; ROC: receiver operating curve; SBP: systolic blood pressure; SE: standard error of coefficient; SNP: single nucleotide polymorphism; TG: triglycerides; TSH: thyroid stimulating hormone; VD: vitamin D.


Asunto(s)
Hormona Luteinizante/genética , Síndrome del Ovario Poliquístico/genética , Polimorfismo de Nucleótido Simple , Receptores de HL/genética , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , India , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
16.
Mol Biol Rep ; 46(2): 2131-2138, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30719605

RESUMEN

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of reproductive-aged women. PCOS reflects a number of possible etiologies but its pathophysiology is still unclear. The principal abnormality of the syndrome is hyperandrogenism (70-80%). The access of androgens to target tissues is regulated by sex hormone-binding globulin (SHBG), a transport protein secreted by liver i.e. specific for androgens. Present study was done to find the association of rs6259 polymorphism with SHBG levels and Poly Cystic Ovary Syndrome in Indian population. Present study was a case control study. 400 subjects were enrolled for the study and serum SHBG levels and D327N polymorphism were measured. The D327N polymorphism (wild-type and variant allele) was detected using PCR-RFLP method (restriction enzyme Bbs-I). PCOS group was found to have significantly lower SHBG levels than healthy controls. There was no significant difference in genotype distribution between PCOS and controls (χ2 = 1.0335, p = 0.59). Significant difference in SHBG levels of PCOS and control group highlights the potential of SHBG as a biomarker for PCOS. However, no significant difference in genotype distribution between PCOS and controls provided an insight that rs6259 polymorphism is not associated with the risk of PCOS and SHBG levels.


Asunto(s)
Síndrome del Ovario Poliquístico/genética , Globulina de Unión a Hormona Sexual/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , India , Síndrome del Ovario Poliquístico/fisiopatología , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Globulina de Unión a Hormona Sexual/análisis
17.
Cytokine ; 114: 86-91, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30442458

RESUMEN

Poly cystic ovary syndrome is the major cause of anovulatory infertility. TNF α, pro-inflammatory cytokine is associated with obesity, insulin resistance and hyperandrogenism, therefore in present study we tried to find the association between TNF α promoter polymorphisms, TNF α levels and the risk of PCOS. Present case control study was carried on 400 women of age 16-40 years. TNF α levels were measured by ELISA whereas promoter polymorphisms were evaluated by PCR-RFLP. Haplotype and Linkage disequilibrium analysis was also done. TNF α level was significantly higher in PCOS group (13.24 ±â€¯9.78) than control (5.5 ±â€¯3.8). Haplotype analysis revealed that GGTCT, AGTCT, AGCCT and AACCT are the susceptible haplotypes associated with TNF α level. rs361525 and rs1799964 were found to be associated with the risk of PCOS (p = 0.0006, 0.015). GGCCT, AATAT, GATAT (most susceptible), AGCCT, GGTCT and GATCT are the susceptible haplotypes for PCOS. Significant difference between TNF α levels in PCOS and Control group suggest it's one of the promising candidates for the marker of inflammation (sensitivity and specificity 91.23 and 94.56% respectively, with area under the curve 0.907 at 95% CI 0.8723-0.9512). Presence of GGCCT haplotype suggests the susceptibility towards PCOS which needs to be further verified. In addition to this, present study not only provides a pavement for the diagnosis, but also monitoring and management of PCOS too.


Asunto(s)
Predisposición Genética a la Enfermedad , Haplotipos/genética , Síndrome del Ovario Poliquístico/sangre , Síndrome del Ovario Poliquístico/genética , Regiones Promotoras Genéticas , Factor de Necrosis Tumoral alfa/sangre , Factor de Necrosis Tumoral alfa/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Humanos , Desequilibrio de Ligamiento/genética , Factores de Riesgo
18.
Biomark Med ; 12(6): 597-606, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29873502

RESUMEN

AIM: Assessment of plasma prolidase levels in polycystic ovary syndrome (PCOS). PATIENTS & METHODS: PCOS patients were screened according to Rotterdam Criterion and prolidase levels were measured. RESULTS: A total of 170 patients and 160 controls were recruited for the study and it was found that prolidase levels were significantly higher in PCOS group (991.10 ± 39.52) than control (621.89 ± 23.94). Furthermore it has been found that prolidase levels increase with the number of cysts in ovaries. CONCLUSION: Significant difference between prolidase levels in PCOS and control shows that it may be used as a diagnostic marker for disease. In addition to this, there is a positive correlation found between prolidase levels and number of cysts, hence may be used as a prognostic marker to monitor disease status.


Asunto(s)
Dipeptidasas/sangre , Síndrome del Ovario Poliquístico/sangre , Síndrome del Ovario Poliquístico/enzimología , Adulto , Biomarcadores/sangre , Estudios de Casos y Controles , Femenino , Humanos , Fenotipo
19.
J Clin Diagn Res ; 11(7): QC13-QC17, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28892981

RESUMEN

INTRODUCTION: Increase in Nitric Oxide (NO) may be important in vascular adaptation needed to accommodate increased uteroplacental blood flow as pregnancy advances. Hence, in certain conditions like Pregnancy Induced Hypertension (PIH) and Fetal Growth Restriction (FGR), NO donors may play an effective role in increasing uteroplacental perfusion. Transdermal route appears to be a safe and effective route. AIM: To evaluate the effect of nitroglycerine patch on Doppler velocity waveforms of the uterine, umbilical and fetal middle cerebral arteries in patients with chronic placental insufficiency. MATERIALS AND METHODS: A prospective randomized controlled clinical trial was conducted on eighty consecutive pregnant women with FGR with or without PIH and having evidence of altered waveform velocimetry in uterine, umbilical and fetal middle cerebral artery. They were divided into two groups- study and control group. Transdermal nitroglycerine patch (10 mg per 24 hours) was applied in study group for three consecutive days. Changes in various Doppler indices were noted after three days of patch application and compared between the two groups. Analysis was carried out using SPSS (Statistical Package for Social Studies) for Windows version 20.0 and online GraphPad software (Prism 5 for Windows) version 5.01. RESULTS: A significant fall in the systolic and diastolic ratio (S/D), Pulsatility Index (PI) and Resistivity Index (RI) of the uterine (3.07±0.52, 1.04±0.14 and 0.54±0.10 respectively, p<0.001) and umbilical artery (3.73±3.30, 1.18±0.21and 0.64±0.07 respectively, p<0.001) was noted after three days of patch application. No such significant change was observed in the middle cerebral artery indices. CONCLUSION: The therapeutic approach of NO donor administration via transdermal route in pregnant patients with chronic placental insufficiency, apparently improved both maternal and fetoplacental haemodynamics, thus may help in improving perinatal outcome.

20.
Indian J Endocrinol Metab ; 21(4): 577-580, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28670543

RESUMEN

OBJECTIVE: To study the prevalence of thyroid peroxidase autoantibody in euthyroid pregnant women and to evaluate the association between thyroid peroxidase autoantibody and pregnancy outcomes. MATERIALS AND METHODS: One thousand thirty consecutive pregnant women attending the antenatal clinic over a period of 1 year and were carrying a healthy singleton uncomplicated intrauterine pregnancy and consuming iodized salt were recruited for the study. Outcomes of the pregnancy was compared between TPO antibody positive euthyroid women (group 1) and TPO antibody negative euthyroid women (group 2). RESULTS: Out of 1030 women, 164 (18.9%) were detected TPO antibody positive with euthyroid status. The mean FT4 and TSH level were significantly different in those who were TPO Ab positive as compared TPO Ab negative euthyroid pregnant women. No correlation was observed between the maternal age, gestational age and gravidity with anti TPO antibody levels. Eighteen (12%) women in Group 1and 5 (3.3%) women in Group 2 had miscarriages and the difference was found to be statistically significant (P value of 0.004). Twenty-one (14%) women in Group 1 and 5 (3.3%) women in Group 2 had preterm deliveries, which was also found to be statistically significantly (p value of 0.001). Other pregnancy related complications like Intrauterine death, IUGR, preeclampsia and PIH though are present in comparatively higher number in TPO Ab positive euthyroid pregnant women as compared to TPO Ab negative euthyroid pregnant women but this difference was not found to be statistically significant. CONCLUSIONS: To conclude with the present study shows that a good number of pregnant women with euthyroid status have TPO Ab positivity and this is associated with some adverse pregnancy outcomes like miscarriage and preterm birth of the baby.

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