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1.
Indian J Med Microbiol ; 38(3 & 4): 357-361, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33154247

RESUMO

Purpose: To study the prevalence of group B streptococci (GBS) in Indian pregnant women and associated risk factors. Methods: Four hundred and fifty pregnant women attending antenatal outpatient/inpatient department between 35-38 weeks of gestation were enrolled in the study. All enrolled subjects were assessed by a predefined proforma for their demographics, socio-economic characteristics, education, toilet habits, obstetric history and clinical outcome. Two cotton swabs each from lower vagina and rectum were collected and plated on selective solid media CHROM agar Strept B (CHROMagarTM) and selective Enrichment Broth LIM RambaQUICK StreptB broth (CHROMagarTM). Presumptive identification of GBS was growth of 1-3 mm grayish white ß-hemolytic colonies on BAP or mauve coloured colonies on CHROM agar Strept B. All presumptively identified GBS were confirmed as group B streptococcus by automated identification system-Vitek MS (Bio Merieux). Results: The recto vaginal colonization rate of GBS in this study was observed as 3.3% (n=15). GBS colonization was significantly associated with nulliparous women (p= 0.026) and use of western style toilet (p=0.017). GBS urinary tract infections was also seen more commonly in women with GBS rectovaginal colonization (p=0.002). Conclusion: Due to the low GBS prevalence and no significant association with major risk factors, we recommend to institute universal screening of GBS in pregnant women, instead of risk based screening. Since this was a single centric study with low prevalence of GBS, its applicability may be limited, therefore further larger multi-centric prospective studies are required to understand the true GBS prevalence in Indian society.


Assuntos
Complicações Infecciosas na Gravidez/epidemiologia , Infecções Estreptocócicas/epidemiologia , Adulto , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Prevalência , Reto/microbiologia , Fatores de Risco , Infecções Estreptocócicas/microbiologia , Streptococcus agalactiae/isolamento & purificação , Centros de Atenção Terciária , Vagina/microbiologia , Adulto Jovem
2.
BMC Med Genet ; 21(1): 216, 2020 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-33138774

RESUMO

BACKGROUND: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). METHODS: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary. RESULTS: Of the 200 participants, 52 (26%) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West. CONCLUSION: A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.


Assuntos
Acil-CoA Desidrogenase/deficiência , Doença de Canavan/genética , Fibrose Cística/genética , Epidermólise Bolhosa Juncional/genética , Galactosemias/genética , Doença de Depósito de Glicogênio Tipo II/genética , Perda Auditiva Neurossensorial/genética , Hiperoxalúria Primária/genética , Erros Inatos do Metabolismo Lipídico/genética , Acil-CoA Desidrogenase/genética , Adulto , Doença de Canavan/epidemiologia , Conexina 26 , Conexinas/genética , Fibrose Cística/epidemiologia , Epidermólise Bolhosa Juncional/epidemiologia , Feminino , Galactosemias/epidemiologia , Expressão Gênica , Triagem de Portadores Genéticos/estatística & dados numéricos , Aconselhamento Genético , Doença de Depósito de Glicogênio Tipo II/epidemiologia , Perda Auditiva Neurossensorial/epidemiologia , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hiperoxalúria Primária/epidemiologia , Índia/epidemiologia , Erros Inatos do Metabolismo Lipídico/epidemiologia , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Mutação , Proteínas de Neoplasias/genética , Serina Endopeptidases/genética , Transportadores de Sulfato/genética
3.
J Clin Exp Hepatol ; 9(3): 383-406, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31360030

RESUMO

Liver diseases occurring during pregnancy can be serious and can progress rapidly, affecting outcomes for both the mother and fetus. They are a common cause of concern to an obstetrician and an important reason for referral to a hepatologist, gastroenterologist, or physician. Liver diseases during pregnancy can be divided into disorders unique to pregnancy, those coincidental with pregnancy, and preexisting liver diseases exacerbated by pregnancy. A rapid differential diagnosis between liver diseases related or unrelated to pregnancy is required so that specialist and urgent management of these conditions can be carried out. Specific Indian guidelines for the management of these patients are lacking. The Indian National Association for the Study of the Liver (INASL) in association with the Federation of Obstetric and Gynaecological Societies of India (FOGSI) had set up a taskforce for development of consensus guidelines for management of patients with liver diseases during pregnancy, relevant to India. For development of these guidelines, a two-day roundtable meeting was held on 26-27 May 2018 in New Delhi, to discuss, debate, and finalize the consensus statements. Only those statements that were unanimously approved by most members of the taskforce were accepted. The primary objective of this review is to present the consensus statements approved jointly by the INASL and FOGSI for diagnosing and managing pregnant women with liver diseases. This article provides an overview of liver diseases occurring in pregnancy, an update on the key mechanisms involved in its pathogenesis, and the recommended treatment options.

4.
BMC Pediatr ; 18(1): 234, 2018 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-30021580

RESUMO

BACKGROUND: Delayed cord clamping is the standard of care in infants not requiring resuscitation; however effects of cord clamping strategies have not been evaluated systematically in small for gestational age (SGA) infants. The primary objective was to compare effects of delayed cord clamping (DCC) and early cord clamping (ECC) on serum ferritin at 3 months in SGA infants born at ≥35 weeks. The secondary objectives were to compare hematological parameters, clinical outcomes in neonatal period and growth at 3 months of age. METHODS: All eligible infants with fetal growth restriction were randomized to two groups, DCC at 60 s or ECC group in which the cord was clamped immediately after birth. RESULTS: Total of 142 infants underwent randomization and subsequently 113 infants underwent definite inclusion. At 3 months, the median (IQR) serum ferritin levels were higher in DCC group, compared to ECC; 86 ng/ml (43.35-134.75) vs 50.5 ng/ml (29.5-83.5), p = 0.01. Fewer infants had iron deficiency in DCC group compared to ECC group; 9 (23.6%) vs 21 (47.7%), p = 0.03 [NNT being 4; 95% CI (2-25)].The proportion of infants with polycythemia was significantly higher in DCC group; 23 (41.81) % vs 12 (20.6%), p = 0.01. There was no difference in proportion of infants with symptomatic polycythemia or those who underwent partial exchange transfusions. Clinical outcomes and mortality were similar. CONCLUSIONS: DCC improves iron stores in SGA infants ≥35 weeks at 3 months of age without increasing the risk of symptomatic polycythemia, need for partial exchange transfusions or morbidities associated with polycythemia. TRIAL REGISTRATION: Our trial was retrospectively registered on 29th May 2015 through Clinical trials registry India. Registration number: CTRI 2015/05/005828 .


Assuntos
Parto Obstétrico/métodos , Ferritinas/sangue , Recém-Nascido Pequeno para a Idade Gestacional/metabolismo , Cordão Umbilical , Anemia Ferropriva/etiologia , Constrição , Transfusão Total , Feminino , Hematócrito , Hemoglobinas/metabolismo , Humanos , Hiperbilirrubinemia/etiologia , Índia , Recém-Nascido , Masculino , Policitemia/etiologia , Policitemia/terapia , Fatores de Risco , Fatores de Tempo
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