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1.
J Indian Assoc Pediatr Surg ; 28(5): 387-391, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37842217

RESUMO

Context: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach-Merritt phenomena. Aim: The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design: This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods: The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results: During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions: This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate.

2.
Biology (Basel) ; 12(4)2023 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-37106752

RESUMO

Amniotic fluid mesenchymal stromal cells (AF-MSCs) represent an autologous cell source to ameliorate congenital heart defects (CHDs) in children. The AF-MSCs, having cardiomyogenic potential and being of fetal origin, may reflect the physiological and pathological changes in the fetal heart during embryogenesis. Hence, the study of defects in the functional properties of these stem cells during fetal heart development will help obtain a better understanding of the cause of neonatal CHDs. Therefore, in the present study, we compared the proliferative and cardiomyogenic potential of AF-MSCs derived from ICHD fetuses (ICHD AF-MSCs) with AF-MSCs from structurally normal fetuses (normal AF-MSCs). Compared to normal AF-MSCs, the ICHD AF-MSCs showed comparable immunophenotypic MSC marker expression and adipogenic and chondrogenic differentiation potential, with decreased proliferation, higher senescence, increased expression of DNA-damaged genes, and osteogenic differentiation potential. Furthermore, the expression of cardiac progenitor markers (PDGFR-α, VEGFR-2, and SSEA-1), cardiac transcription factors (GATA-4, NKx 2-5, ISL-1, TBX-5, TBX-18, and MeF-2C), and cardiovascular markers (cTNT, CD31, and α-SMA) were significantly reduced in ICHD AF-MSCs. Overall, these results suggest that the AF-MSCs of ICHD fetuses have proliferation defects with significantly decreased cardiomyogenic differentiation potential. Thus, these defects in ICHD AF-MSCs highlight that the impaired heart development in ICHD fetuses may be due to defects in the stem cells associated with heart development during embryogenesis.

3.
Fetal Diagn Ther ; 32(4): 292-4, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22677891

RESUMO

Maternal hepatitis infection, excepting hepatitis E, causing isolated fetal ascites with variable outcome has been reported previously. We present a case of maternal hepatitis E virus (HEV) infection causing isolated fetal ascites which resolved spontaneously during pregnancy and resulted in a term live-born baby with anti-HEV seropositivity. A 39-year-old primigravida woman was diagnosed with acute HEV infection at 15 weeks of gestation. Ultrasound at 19 weeks showed significant fetal ascites with abdominal calcifications. Fetal karyotype did not show any abnormality. Cord blood was positive for anti-HEV IgM and negative for other intrauterine infections. Ultrasound at 25 weeks showed partial resolution of fetal ascites with complete resolution at 30 weeks. She delivered a healthy baby at 38 completed weeks, with normal liver enzymes at birth and 1-month follow-up.


Assuntos
Ascite/etiologia , Vírus da Hepatite E , Hepatite E/fisiopatologia , Complicações Infecciosas na Gravidez/fisiopatologia , Adulto , Líquido Amniótico/microbiologia , Ascite/diagnóstico por imagem , Ascite/embriologia , Feminino , Hepatite E/microbiologia , Humanos , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/microbiologia , Nascimento a Termo , Ultrassonografia Pré-Natal
4.
Neurol India ; 70(5): 1836-1839, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36352575

RESUMO

Background: Neural tube defect (NTD) is a multifactorial disorder. Decrease transfer of folate to the developing embryo is one of the etiologies. It could be due to decrease folate receptors resulting in NTD in fetus. Objective: To analyze serum folate receptor alpha (FOLR1) concentration in women having fetus with NTD and compare it with women having normal fetus during and after pregnancy. Material and Methods: This was a prospective case control study conducted in a tertiary care hospital. Pregnant women with detected isolated NTD in fetus were enrolled as cases and equal number of matched pregnant women without any fetal congenital malformation were recruited as controls. Serum FOLR1 levels were analyzed in cases and controls during pregnancy and 6 weeks after delivery. Results: Mean serum FOLR1 concentration during pregnancy was 70.5 pg/mL (range: 23.8-98.5 pg/mL) and 103.9 pg/mL (range: 70-110 pg/mL) in cases and controls, respectively. Serum level of FOLR1 was 448.9 pg/mL (range: 133.5-475) and 414.5 pg/mL (range: 269.7-412.5) in cases and controls at 6 weeks postpartum, respectively. There was statistically significant difference (P < 0.001) between cases and control during pregnancy but not in postpartum (P = 0.092). There was significant increase in level of FOLR1 in both cases and control at 6 weeks postpartum as compared to antenatal period. Conclusions: Maternal serum FOLR1 is significantly reduced in pregnancy with fetal NTD as compared to normal pregnancy. The level is significantly increased in postpartum period in both groups. FOLR1 level being similar in both groups in postpartum indicates that it is not influenced by the history of fetal NTD.


Assuntos
Receptor 1 de Folato , Defeitos do Tubo Neural , Feminino , Gravidez , Humanos , Estudos de Casos e Controles , Ácido Fólico , Feto
5.
J Family Med Prim Care ; 11(3): 1055-1058, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35495822

RESUMO

Background: Telemedicine facilitates patient care in various fields including antenatal care. Its application and usefulness need objectification and can be a guide to using this service in the care of pregnant women. Material and Methods: This was a prospective observational study conducted from May 2020 to December 2020. Following the telemedicine practice guideline of the country, 3,360 teleconsultations were sought by 862 antenatal patients. The duration of each call, an indication of referral and pregnancy risk stratification were noted. Further management was classified into three categories depending upon the need for an immediate hospital visit, no hospital visit or scheduled visit after at least 48 h after the first contact. Results: The antenatal cases were referred for either maternal, foetal or both indications in 24.7, 54.8 and 20.5% of the cases, respectively. Women were classified as low risk (61.6%), high risk (35.7%) and severe risk (2.7%). In 1.4% of the patients, history and review of the records could not be done through telemedicine. The average time spent was 16.6 min for the first contact and 3.1 min for subsequent contacts. Further management was done with immediate visits in 385 (45.3%), scheduled hospital visits in 292 (34.3%) women and no tertiary care hospital visit in 173 (20.4%). Discussion: Women (20.4%) not called to the maternal-foetal medicine department of the institute were managed along with the treating obstetrician and no difference in pregnancy outcome was noted. Conclusion: Antenatal care can be provided following triage over teleconsultation and 1.4% of the women may not be able to use telehealth.

6.
J Clin Exp Hepatol ; 12(2): 379-383, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35535067

RESUMO

Introduction: Intrahepatic cholestasis of pregnancy (ICP) manifests as unexplained intense pruritus in the third trimester of pregnancy and is often diagnosed based on elevated serum bile acid measurement. There are no data from India on serum bile acid levels in pregnant women with ICP. Methods: Pregnant women with significant pruritus during the third trimester of gestation and with elevated serum alanine aminotransferase and/or aspartate aminotransferase (normal: <40 IU/L) were taken as having ICP. Serum BA levels were measured in them and in nonpregnant women and healthy pregnant women without itching. Results: Of the 3735 pregnant women screened, 105 (2.8%) had ICP (age 28 [26-32] years; gestational age 32 [30-36] weeks; primigravida 32.3%, and 95.3% normal fetal growth). Median (interquartile range) serum bile acid levels in nonpregnant women (n = 61; 28 [25-31] years) and pregnant women without ICP (n = 59; 28 [25-31] years) were similar (3.7 [1.6-5.1] µmol/L and 3.7 [2.2-5.8] µmol/L, respectively). By comparison, serum bile acid level in women with ICP (n = 105; 28 [26-32] years) was significantly higher (20.2 [12.7-39.5] µmol/L; P < 0.05 each), being above 10 µmol/L in 88 (83.8%). The optimum cut-off for the diagnosis of ICP in our population was ≥8.6 µmol/L, with sensitivity of 87.6%, specificity of 93.3% and area under the receiver-operator characteristics curve of 0.937 (95% CI: 0.904-0.970). Conclusion: Serum BA levels in healthy Indian nonpregnant and pregnant women are similar to those in other populations and can be used to diagnose ICP with an optimal cut-off being 8.6 µmol/L.

7.
J Obstet Gynaecol India ; 71(2): 124-130, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34149213

RESUMO

INTRODUCTION: Immune thrombocytopenia (ITP) complicates 1-2 cases/10,000 pregnancies in India. Management of these patients is a challenge as it is associated with potential risks of maternal bleeding episodes and neonatal alloimmune thrombocytopenia (NAITP). OBJECTIVE: To study the maternal and fetal/neonatal outcome of pregnancy in Indian patients with ITP and identify the risk factors for NAITP. MATERIALS AND METHODS: In this retrospective study, all ITP patients with pregnancy who were diagnosed and treated at our center over 8 years (August 2010- August 2018) were evaluated for their hematological, obstetrical, and fetal outcomes. RESULTS: Twenty-nine pregnancies in 27 ITP patients were studied. The mean interval between the diagnosis of ITP and each pregnancy was 29 ± 14.9 months. The mean baseline platelet count was 0.18 ± 0.05 X 109/L. Twenty-seven (93.1%) cases were treated with oral prednisolone. Twenty deliveries (69.0%) were vaginal and 9 (31.0%) deliveries were by cesarean section. There were no major bleeding episodes during pregnancy or delivery.The mean neonatal platelet count was 1.23 ± 0.58 × 109/L at birth. NAITP was seen in 3 (3.5%) neonates. No bleeds or intracranial hemorrhages were observed. Only maternal platelet count < 50 X 109/L at delivery showed a statistical correlation with NAITP (p = 0.022). There was no positive correlation between NAITP and the duration of maternal ITP, the timing of ITP onset, or type of treatment. CONCLUSION: Successful outcome of pregnancies in ITP patients is possible, and the risk of maternal bleeding and NAITP is low.

8.
Indian J Hematol Blood Transfus ; 37(3): 442-447, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34267464

RESUMO

Many authors have reported poor prognostic value of anti-D antibody titer in the setting of Hemolytic Disease of Fetus and Newborn (HDFN). According to literature, HDFN cases with IgG1 and IgG3 have more severity compared to IgG2 and IgG4.Therefore, we planned this study to evaluate the prevalence and prognostic value of IgG subtypes in the setting of Rh HDFN. This was a retrospective study performed at a tertiary care center in north India from October 2015 to November 2017. Women with anti-D antibody were included in the study and categorized on the basis of presence of specific IgG subtype. "DAT IgG1/IgG3 ID" card (BIO-RAD) was used for determining the subclass of IgG. Various clinical, laboratory & interventional parameters were used to categorize fetal outcome in severe and non-severe cases. Perinatal outcome was then compared between women with different IgG subclass profile. Subclass distribution among 80 alloimmunized women was 26.2% for IgG1, 15% for IgG3, 46.2% for IgG1 + IgG3 and the rest had neither IgG1 nor IgG3. Severity of HDFN was significantly higher when IgG1 &/or IgG3 were present alone or in combination, compared to cases with absence of IgG1 or IgG3 (p value < 0.05). Risk of severe HDFN was significantly higher in the presence of IgG1 &/or IgG3 and the severity was highest when both IgG1 and IgG3 were present. We recommend that IgG subclass determination should be included in a multi-parameter protocol for more accurate prediction HDFN severity to ensure timely referral and intervention.

9.
Saudi J Kidney Dis Transpl ; 32(5): 1397-1406, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35532710

RESUMO

Proteinuria can range from subnephrotic to nephrotic amounts during pregnancy, though nephrotic syndrome (NS) is rare (0.012%-0.025%). Without a renal biopsy, this distinction may be difficult at times. The objective of our study was assessing about renal and feto-maternal outcomes of these patients. This study was done in a tertiary-care hospital in north India from 2010 to 2019. We included all pregnant women with nephrotic-range proteinuria, with no signs or symptoms suggestive of pre-eclampsia. We studied their treatment modalities, renal, maternal, and fetal outcomes. Eighteen eligible pregnant women diagnosed with NS with no features suggestive of pre-eclampsia or associated comorbidities were included. The gestational age of presentation was 23.2 ± 1.36 weeks. The average proteinuria was 4.38 ± 0.76 g/day. The patients were managed conservatively without kidney biopsy. About 16.7% of pregnancies had worsening of hypertension and acute kidney injury which recovered after delivery. Anasarca was troublesome for four patients requiring fresh-frozen plasma infusion. All were managed conservatively; however, five patients were started on empirical immunosuppression, all five with steroids, while two required the addition of calcineurin inhibitors as well. All had live births, but 25.7% each had preterm and intrauterine growth restriction while one required neonatal intensive care unit admission. The degree of proteinuria had an impact on maternal and fetal outcomes, especially on risk to pre-eclampsia. NS during pregnancy needs evaluation and counseling. Majority of them can be managed conservatively yet specific therapies can safely be tried among symptomatic ones. Despite good outcomes, a sizeable risk to maternal and fetal complications can occur.


Assuntos
Síndrome Nefrótica , Pré-Eclâmpsia , Complicações na Gravidez , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Rim , Masculino , Síndrome Nefrótica/complicações , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/epidemiologia , Pré-Eclâmpsia/diagnóstico , Pré-Eclâmpsia/epidemiologia , Pré-Eclâmpsia/terapia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Resultado da Gravidez , Proteinúria/etiologia , Proteinúria/terapia
10.
Indian Heart J ; 73(2): 185-189, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33865516

RESUMO

BACKGROUND: Cardiac diseases are seen in 1-3% of pregnancies. In developing countries rheumatic heart disease (RHD) contributes a major cause of cardiac disorders. OBJECTIVE: To study the maternal and fetal outcome in women with valvular heart disease or prosthetic heart valve replacement secondary to RHD in a tertiary care center. METHOD: The consecutive pregnant women with RHD attending our institute from May 2018 to August 2019 were included. A maternal adverse outcome was defined as cardiac death, new onset arrhythmia, heart failure, thromboembolic event, hospitalization for other cardiac reasons or cardiac intervention, aortic dissection, infective endocarditis and acute coronary syndrome. Fetal adverse outcome defined as fetal death, preterm birth, and low birth weight. RESULT: Total 80 patients were included in this study, native RHD in 60(75%) and 20(25%) had mechanical prosthetic valve replacement. Maternal adverse event occurred in 34(42.5%), comprising of death in 1(1.2%), new onset AF 2(2.5%), 20(25%) underwent balloon mitral valvotomy, 3(3.7%) underwent mitral valve replacement, heart failure hospitalization in 7(8.7%). 1(1.2%) patient developed mitral valve infective endocarditis. Preterm delivery occurred in 19(23.7%), 7(8.7%) abortions and 1(1.2%) intrauterine death. Fetuses with low birth weight were 43(53.7%). Pregnancy with live birth occurred in 57(95%) women with valvular heart disease but no prosthesis and 16(80%) women with prosthetic valve disease. CONCLUSION: Women with rheumatic heart disease carry a high risk both for mother and fetus. Early diagnosis, close follow-up during pregnancy, early recognition of deterioration in symptoms and timely cardiac intervention can lead to good maternal or fetal outcome.


Assuntos
Complicações Cardiovasculares na Gravidez , Nascimento Prematuro , Cardiopatia Reumática , Feminino , Feto , Humanos , Recém-Nascido , Gravidez , Complicações Cardiovasculares na Gravidez/diagnóstico , Complicações Cardiovasculares na Gravidez/epidemiologia , Gestantes , Cardiopatia Reumática/complicações , Cardiopatia Reumática/diagnóstico , Cardiopatia Reumática/epidemiologia
11.
Dev Neurosci ; 31(6): 487-96, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19622880

RESUMO

Transient early cerebral laminar organization resulting from normal developmental events has been revealed in human beings through histology and imaging studies. DTI studies have postulated that the fractional anisotropy (FA)-based differentiation of different laminar structures reflects both differing cellular density over the glial fibers and fiber alignment in respective regions. The aim of this study was to correlate FA values in these transient zones with histology. Brain DTI was performed on 50 freshly aborted human fetuses with gestational ages (GA) ranging from 12 to 42 weeks. Regions of interest were placed on the cortical plate, subplate, intermediate and germinal matrix (GMx) zones of the frontal lobe to quantify FA values. Glial fibrillary acidic protein (GFAP), neurofilament (NF) and neuron-specific enolase (NSE) immunohistochemical analyses were performed for the cortical plate, intermediate zone and GMx. In the cortical plate, a significant positive correlation was observed between FA values and percentage area of GFAP expression in fetuses

Assuntos
Imagem de Tensor de Difusão/métodos , Lobo Frontal/embriologia , Feto Abortado , Anisotropia , Mapeamento Encefálico , Contagem de Células , Feminino , Desenvolvimento Fetal , Lobo Frontal/metabolismo , Idade Gestacional , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Processamento de Imagem Assistida por Computador , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Proteínas de Neurofilamentos/metabolismo , Fosfopiruvato Hidratase/metabolismo , Análise de Regressão
12.
Neuroradiology ; 51(9): 567-76, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19421746

RESUMO

INTRODUCTION: In this study, diffusion tensor imaging (DTI) and glial fibrillary acidic protein (GFAP) immunohistochemical analysis in different cortical regions in fetal brains at different gestational age (GA) were performed. METHODS: DTI was performed on 50 freshly aborted fetal brains with GA ranging from 12 to 42 weeks to compare age-related fractional anisotropy (FA) changes in different cerebral cortical regions that include frontal, parietal, occipital, and temporal lobes at the level of thalami. GFAP immunostaining was performed and the percentage of GFAP-positive areas was quantified. RESULTS: The cortical FA values in the frontal lobe peaked at around 26 weeks of GA, occipital and temporal lobes at around 20 weeks, and parietal lobe at around 23 weeks. A significant, but modest, positive correlation (r = 0.31, p = 0.02) was observed between cortical FA values and percentage area of GFAP expression in cortical region around the time period during which the migrational events are at its peak, i.e., GA < or = 28 weeks for frontal cortical region and GA < or = 22 weeks for rest of the lobes. CONCLUSIONS: The DTI-derived FA quantification with its GFAP immunohistologic correlation in cortical regions of the various lobes of the cerebral hemispheres supports region-specific migrational and maturational events in human fetal brain.


Assuntos
Envelhecimento/patologia , Envelhecimento/fisiologia , Córtex Cerebral/anatomia & histologia , Córtex Cerebral/embriologia , Imagem de Difusão por Ressonância Magnética/métodos , Desenvolvimento Fetal , Feto/anatomia & histologia , Feminino , Humanos , Masculino
13.
Indian J Pediatr ; 86(7): 645-647, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30879238

RESUMO

Congenital chylothorax is a relatively uncommon condition seen in newborn period. Treatment comprises of adequate pleural fluid drainage, octreotide infusion, total parenteral nutrition followed by medium chain triglyceride (MCT) based low fat milk preparations. The authors present a case of Cornelia de Lange syndrome with a rare presentation of antenatally diagnosed chlyothorax presenting at birth with respiratory distress. The baby was managed with skimmed milk formulation fortified with coconut oil providing low fat and high proteins.


Assuntos
Quilotórax/congênito , Síndrome de Cornélia de Lange/complicações , Leite , Animais , Quilotórax/complicações , Quilotórax/diagnóstico , Quilotórax/dietoterapia , Síndrome de Cornélia de Lange/diagnóstico , Alimentos Formulados , Humanos , Recém-Nascido , Masculino , Leite/química , Octreotida/administração & dosagem , Octreotida/uso terapêutico , Síndrome do Desconforto Respiratório do Recém-Nascido , Triglicerídeos
14.
Saudi J Kidney Dis Transpl ; 30(2): 325-333, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31031368

RESUMO

Renal cortical necrosis (RCN) is a serious complication of acute kidney injury (AKI) and pregnancy is a clinical state closely associated with it with poor renal outcomes. The incidence is much higher in obstetrical AKI compared to other causes of RCN. Despite better medical care facilities available, this continues to be an important cause of morbidity and mortality in developing countries. This is a retrospective analysis among all pregnant females presenting with AKI from January 1999 to December 2014 at a tertiary care center in the northern part of India. We looked for the incidence of obstetrical-related RCN in our renal biopsies performed in the last 15 years and to evaluate precipitating factors responsible for RCN. RCN constituted 8.3% of pregnancy-related AKI cases in our institution. The overall incidence has been declining which was 9.09% from 1999 to 2008 to 7.8% from 2009 to 2014. The patient's median age was 29.3 ± 5.2 years. The average time to presentation from the day of delivery was 8.7 ±2.1 days. The mortality was observed in 11.7% of them with sepsis and multiorgan dysfunction present in all of them. The most common etiology for RCN was found to be septic abortion and puerperal sepsis accounting for - 15.3% each. Postpartum hemorrhage was a cause in 9.09% of patients. The most important cause of RCN was postpartum thrombotic microangiopathy which was observed in 48.7% of patients. Kidney biopsy was helpful in diagnosis in 31 patients while computed tomography scan abdomen alone helped in diagnosis in five patients. Patchy cortical necrosis in histology was seen in 35.4% of patients and morbidity in terms of prolonged hospitalization was seen in 22.7% while dialysis dependency in 61.5% of the study population. In conclusion, strategies need to be implemented in reducing the preventable causes for RCN which is not only catastrophic in terms of renal outcomes but also for social and psychological perspectives as well.


Assuntos
Países em Desenvolvimento , Necrose do Córtex Renal/complicações , Necrose do Córtex Renal/epidemiologia , Falência Renal Crônica/etiologia , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Aborto Séptico/epidemiologia , Aborto Séptico/etiologia , Injúria Renal Aguda/complicações , Injúria Renal Aguda/patologia , Adulto , Feminino , Humanos , Incidência , Índia/epidemiologia , Mortalidade Materna , Hemorragia Pós-Parto/epidemiologia , Hemorragia Pós-Parto/etiologia , Período Pós-Parto , Gravidez , Complicações na Gravidez/mortalidade , Infecção Puerperal/epidemiologia , Infecção Puerperal/etiologia , Estudos Retrospectivos , Adulto Jovem
15.
Fetal Diagn Ther ; 23(1): 10-4, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-17934291

RESUMO

Congenital diverticulum of the left ventricle is a malformation, often associated with midline thoraco-abdominal defects. Here we describe a case of isolated congenital left ventricular diverticulum that presented with an abnormal four-chamber view and fetal dysrhythmia on ultrasonography. Maternal digoxin therapy was started due to significant ventricular ectopy. Restoration of fetal sinus rhythm was achieved within 48 h. Serial fetal echocardiograms were performed every week, followed by a normal vaginal delivery at term. The child is surviving at 1 year of age.


Assuntos
Arritmias Cardíacas/diagnóstico , Divertículo/diagnóstico , Cardiopatias Congênitas/diagnóstico , Adulto , Arritmias Cardíacas/tratamento farmacológico , Diagnóstico Diferencial , Digoxina/uso terapêutico , Gerenciamento Clínico , Divertículo/tratamento farmacológico , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/tratamento farmacológico , Cardiopatias Congênitas/tratamento farmacológico , Ventrículos do Coração/anormalidades , Humanos , Recém-Nascido , Gravidez , Ultrassonografia Pré-Natal/métodos
16.
Indian J Pathol Microbiol ; 51(2): 255-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18603699

RESUMO

Limb body wall complex (LBWC) is a rare clinicopathological entity, representing a compound anomaly pattern in ventral body wall defects. The authors report a case of LBWC diagnosed in early antenatal period. The pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical of LBWC.


Assuntos
Parede Abdominal/anormalidades , Anormalidades Múltiplas/patologia , Deformidades Congênitas dos Membros/patologia , Anormalidades Múltiplas/diagnóstico por imagem , Feto Abortado/patologia , Aborto Eugênico , Adulto , Feminino , Humanos , Deformidades Congênitas dos Membros/diagnóstico por imagem , Masculino , Gravidez , Ultrassonografia Pré-Natal
17.
J Neurosurg Spine ; 7(6): 623-30, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18074687

RESUMO

OBJECT: Genetic mechanisms of atlantoaxial dislocation (AAD) have not previously been elucidated. The authors studied association of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes enzymes of the folate pathway (implicated in causation of neural tube defects [NTDs]), in patients with AAD. METHODS: Molecular analysis of MTHFR polymorphisms (677C-->T, cytosine to thymine and, 1298A-->C, adenine to cytosine, substitutions) was carried out using polymerase chain reaction and restriction enzyme digestion in 75 consecutive patients with AAD and in their reducible (nine patients, 12%) and irreducible (66 patients, 88%) subgroups. Controls were 60 age- and sex-matched patients of the same ethnicity. Comparisons of genotype and allele frequencies were performed using a chi-square test (with significance at p < 0.05). RESULTS: The CT genotype frequency of MTHFR 677C-->T polymorphism was significantly increased in the full group of patients with AAD (odds ratio [OR] 3.00, 95% confidence interval [CI] 1.28-7.14, p = 0.005) as well as in the irreducible subgroup (OR 2.81, 95% CI 1.17-6.86, p = 0.01). The frequency of T alleles was also higher in the AAD group (25.3%) than in controls (15%). The comparison of the combined frequency of CT and TT genotypes with the frequency of the CC genotype again showed significant association in AAD (OR 2.63, 95% CI 1.98-5.90, p = 0.009) and the irreducible (OR 2.5, 95% CI 1.1-5.74, p = 0.016) subgroup. There was, however, no significant association of MTHFR 1298A-->C polymorphism with AAD. CONCLUSIONS: Both MTHFR 677C-->T polymorphism and higher T allele frequency have significant associations with AAD, especially the irreducible variety. Perhaps adequate supplementation of periconceptional folic acid to circumvent effects of this missense mutation (as is done for prevention of NTDs) would reduce the incidence of AAD.


Assuntos
Articulação Atlantoaxial/lesões , Luxações Articulares/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Adolescente , Adulto , Articulação Atlantoaxial/diagnóstico por imagem , Articulação Atlantoaxial/fisiopatologia , Articulação Atlantoaxial/cirurgia , Criança , Pré-Escolar , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/fisiopatologia , Luxações Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Movimento , Pescoço/fisiopatologia , Estudos Prospectivos , Fusão Vertebral , Tomografia Computadorizada por Raios X
18.
J Reprod Med ; 52(5): 453-5, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17583254

RESUMO

BACKGROUND: Primary amenorrhea can be due to abnormal functioning of the hypothalamic-pituitary axis or malformation of müllerian structures. Malnutrition due to chronic malabsorption can alter the axis and can be a cause of primary amenorrhea. CASE: A 20-year-old woman presented to us with primary amenorrhea and failure of development of secondary sexual characteristics. She had significant weight loss in spite of normal intake of diet. On investigation, she had microcytic hypochromic anemia, and her follicle-stimulating hormone and luteinizing hormone levels were low, while the thyroid-stimulating hormone and prolactin levels were normal. Her duodenal biopsy showed villus atrophy, and IgA antiendomysial antibody was positive, suggestive of celiac disease. The patient's condition improved markedly and attained menarche after 6 months of a gluten-free diet. CONCLUSION: Celiac disease should be considered in patients presenting with malnutrition and primary amenorrhea.


Assuntos
Amenorreia/diagnóstico , Doença Celíaca/diagnóstico , Adulto , Amenorreia/sangue , Amenorreia/etiologia , Doença Celíaca/sangue , Doença Celíaca/complicações , Doença Celíaca/dietoterapia , Doença Celíaca/patologia , Diagnóstico Diferencial , Dieta com Restrição de Proteínas , Feminino , Glutens , Humanos , Desnutrição/complicações , Desnutrição/diagnóstico
19.
Asian J Neurosurg ; 12(1): 127-130, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28413555

RESUMO

We report a case of dissecting aneurysm of the right posterior cerebral artery presenting with sudden onset headache and altered behavior during labor. A 26-year-old P1001 with uncomplicated antenatal period, except history of headache off and on since 32 weeks of pregnancy, developed sudden onset headache and altered behavior during 3rd stage of labor. She had vaginal delivery and a live born male baby was delivered with good Apgar score. The CT was suggestive of subarachnoid hemorrhage and DSA was suggestive of dissecting aneurysm of the right P2 segment with hypoplasia of right P1 segment and A1 segment of posterior and anterior cerebral artery, respectively. The patient was managed conservatively. At 4-month follow-up, the patient was doing well. We discuss about the rare association of a dissecting aneurysm and pregnancy, especially dissection of the posterior cerebral artery.

20.
Asian J Neurosurg ; 12(1): 142-144, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28413559

RESUMO

We report a case of giant aneurysm causing subarachnoid hemorrhage in a pregnant female. A 25-year-old female presented with sudden onset of severe headache and vomiting with altered sensorium and right hemiplegia. On investigation, she had a giant supraclinoid segment internal carotid artery (ICA) aneurysm. She was planned for digital substraction angiography, but during the procedure she deteriorated neurologically and went into spontaneous labor. The baby was a male child with weight of 1.1 kg. She was taken up for surgery and aneurysm was clipped. We discuss the rare occurrence of intracranial hemorrhage in pregnancy due to a giant ICA aneurysm.

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