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Hum Mutat ; 39(12): 1875-1884, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30157302


SMAD2 is a downstream effector in the TGF-ß signaling pathway, which is important for pattern formation and tissue differentiation. Pathogenic variants in SMAD2 have been reported in association with arterial aneurysms and dissections and in large cohorts of subjects with complex congenital heart disease (CHD). We used whole exome sequencing (WES) to investigate the molecular cause of CHD and other congenital anomalies in three probands and of an arterial aneurysm in an additional patient. Patients 1 and 2 presented with complex CHD, developmental delay, seizures, dysmorphic features, short stature, and poor weight gain. Patient 3 was a fetus with complex CHD and heterotaxy. The fourth patient is an adult female with aortic root aneurysm and physical features suggestive of a connective tissue disorder. WES identified pathogenic truncating variants, a splice variant, and a predicted deleterious missense variant in SMAD2. We compare the phenotypes and genotypes in our patients with previously reported cases. Our data suggest two distinct phenotypes associated with pathogenic variants in SMAD2: complex CHD with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities.

Neuropediatrics ; 47(2): 128-31, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26854587


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria, underdevelopment of the cerebellum, and multiple intracranial hemorrhages.

Sistema Nervoso Central/anormalidades , Polimicrogiria/complicações , Receptores de Trombopoetina/genética , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Cerebelo/anormalidades , Idade Gestacional , Humanos , Lactente , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/congênito , Masculino , Mutação de Sentido Incorreto
Am J Obstet Gynecol ; 211(5): 536.e1-6, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24769009


OBJECTIVE: The objective of the study was to assess in trichorionic triplet pregnancies the effectiveness of elective reduction to twins. STUDY DESIGN: This was a nationwide retrospective cohort study. We compared the time to delivery and perinatal mortality in trichorionic triplet pregnancies electively reduced to twins with ongoing trichorionic triplets and primary dichorionic twins. RESULTS: We identified 86 women with reduced trichorionic triplet pregnancies, 44 with ongoing trichorionic triplets, and 824 with primary twins. Reduced triplets had a median gestational age at delivery of 36.1 weeks (interquartile range [IQR], 33.3-37.5 weeks) vs 33.3 (IQR, 28.1-35.2) weeks for ongoing triplets and 37.1 (IQR, 35.3-38.1) weeks for primary twins (P < .001). The total number of surviving children in the reduced group was 155 (90%) vs 114 (86%) in the ongoing triplet group. After reduction, 75 of women (87%) had all their fetuses surviving, compared with 36 (82%) (relative risk [RR], 1.3; 95% confidence interval [CI], 0.72-2.3) for ongoing triplets and 770 (93%) (RR, 0.91; 95% CI, 0.82-1) for primary twins. There were 6 women without any surviving children (7%) after reduction vs 5 (11.4%) (RR, 0.81; 95% CI, 0.47-1.4) among women with ongoing triplets and 32 (3.9%) (RR, 1.7; 95% CI, 0.8-3.7) in women with primary twins. CONCLUSION: In women with a triplet pregnancy, fetal reduction increases gestational age at birth with 3 weeks as compared with ongoing triplets. However, there the impact on neonatal survival is limited.

Resultado da Gravidez , Redução de Gravidez Multifetal/métodos , Gravidez de Trigêmeos , Gravidez de Gêmeos , Nascimento Prematuro , Adulto , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Mortalidade Perinatal , Gravidez , Estudos Retrospectivos
Obstet Gynecol Surv ; 65(5): 341-7, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20591204


UNLABELLED: To evaluate the efficacy and safety of intravenous nicardipine for the treatment of severe hypertension in pregnancy. Articles were identified through electronic databases (Medline and Cochrane). No date or language restrictions were placed. Relevant citations were hand searched. The following search terms were used: pregnancy, severe hypertension and nicardipine. Patients included had chronic or gestational hypertension with or without marked proteinuria. Primary outcomes were reduction of systolic/diastolic and/or mean arterial pressure, time to target blood pressure, and severe maternal (hypotension, tachycardia) or severe fetal side effects (CTG abnormalities needing direct intervention). Five studies were found describing the use of nicardipine for treatment of severe hypertension in pregnancy. All studies were included in this review. One hundred forty-seven patients were treated. All patients had a significant reduction of both diastolic and systolic blood pressure. Treatment resulted in a 91% success rate in studies that defined success and 20% reduction of mean arterial blood pressure or systolic/diastolic blood pressure in 87%. Target blood pressure was reached within 23 minutes in 70% of the patients, 91% reached target blood pressure within 130 minutes. No severe maternal or fetal side effects were recorded. Nicardipine is a very effective therapy for treatment of severe hypertension in pregnancy and may be a better alternative to other available treatment options. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians. LEARNING OBJECTIVES: After completion of this article, the reader will be able to evaluate the relative effectiveness of nicardipine for the treatment of severe hypertension in pregnancy. Compare the side effect profile of nicardipine to labetolol for the treatment of severe hypertension in pregnancy and calculate the appropriate dosing of nicardipine for the treatment of hypertension in pregnancy.

Anti-Hipertensivos/administração & dosagem , Hipertensão Induzida pela Gravidez/tratamento farmacológico , Nicardipino/administração & dosagem , Feminino , Humanos , Gravidez , Literatura de Revisão como Assunto , Índice de Gravidade de Doença , Resultado do Tratamento