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1.
BJOG ; 127(9): 1116-1121, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32339382

RESUMO

OBJECTIVE: To report mode of delivery and immediate neonatal outcome in women infected with COVID-19. DESIGN: Retrospective study. SETTING: Twelve hospitals in northern Italy. PARTICIPANTS: Pregnant women with COVID-19-confirmed infection who delivered. EXPOSURE: COVID 19 infection in pregnancy. METHODS: SARS-CoV-2-infected women who were admitted and delivered from 1 to 20 March 2020 were eligible. Data were collected from the clinical records using a standardised questionnaire on maternal general characteristics, any medical or obstetric co-morbidity, course of pregnancy, clinical signs and symptoms, treatment of COVID 19 infection, mode of delivery, neonatal data and breastfeeding. MAIN OUTCOME AND MEASURES: Data on mode of delivery and neonatal outcome. RESULTS: In all, 42 women with COVID-19 delivered at the participating centres; 24 (57.1%, 95% CI 41.0-72.3) delivered vaginally. An elective caesarean section was performed in 18/42 (42.9%, 95% CI 27.7-59.0) cases: in eight cases the indication was unrelated to COVID-19 infection. Pneumonia was diagnosed in 19/42 (45.2%, 95% CI 29.8-61.3) cases: of these, 7/19 (36.8%, 95% CI 16.3-61.6) required oxygen support and 4/19 (21.1%, 95% CI 6.1-45.6) were admitted to a critical care unit. Two women with COVID-19 breastfed without a mask because infection was diagnosed in the postpartum period: their newborns tested positive for SARS-Cov-2 infection. In one case, a newborn had a positive test after a vaginal operative delivery. CONCLUSIONS: Although postpartum infection cannot be excluded with 100% certainty, these findings suggest that vaginal delivery is associated with a low risk of intrapartum SARS-Cov-2 transmission to the newborn. TWEETABLE ABSTRACT: This study suggests that vaginal delivery may be associated with a low risk of intrapartum SARS-Cov-2 transmission to the newborn.


Assuntos
Betacoronavirus , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/transmissão , Parto Obstétrico/efeitos adversos , Transmissão Vertical de Doenças Infecciosas , Pneumonia Viral/diagnóstico , Pneumonia Viral/transmissão , Complicações Infecciosas na Gravidez/diagnóstico , Adulto , COVID-19 , Feminino , Humanos , Recém-Nascido , Itália , Masculino , Pandemias , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Retrospectivos , SARS-CoV-2 , Vagina/virologia
2.
3.
Cerebellum ; 18(3): 422-432, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30741391

RESUMO

Nuclear pore complexes (NPCs) are the gateways of the nuclear envelope mediating transport between cytoplasm and nucleus. They form huge complexes of 125 MDa in vertebrates and consist of about 30 different nucleoporins present in multiple copies in each complex. Here, we describe pathogenic variants in the nucleoporin 93 (NUP93) associated with an autosomal recessive form of congenital ataxia. Two rare compound heterozygous variants of NUP93 were identified by whole exome sequencing in two brothers with isolated cerebellar atrophy: one missense variant (p.R537W) results in a protein which does not localize to NPCs and cannot functionally replace the wild type protein, whereas the variant (p.F699L) apparently supports NPC assembly. In addition to its recently described pathological role in steroid-resistant nephrotic syndrome, our work identifies NUP93 as a candidate gene for non-progressive congenital ataxia.


Assuntos
Ataxia Cerebelar/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem , Irmãos , Adulto Jovem
4.
Clin Genet ; 91(1): 86-91, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27062503

RESUMO

Congenital ataxias are nonprogressive neurological disorders characterized by neonatal hypotonia, developmental delay and ataxia, variably associated with intellectual disability and other neurological or extraneurological features. We performed trio-based whole-exome sequencing of 12 families with congenital cerebellar and/or vermis atrophy in parallel with targeted next-generation sequencing of known ataxia genes (CACNA1A, ITPR1, KCNC3, ATP2B3 and GRM1) in 12 additional patients with a similar phenotype. Novel pathological mutations of ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) were found in seven patients from four families (4/24, ∼16.8%) all localized in the IRBIT (inositol triphosphate receptor binding protein) domain which plays an essential role in the regulation of neuronal plasticity and development. Our study expands the mutational spectrum of ITPR1-related congenital ataxia and indicates that ITPR1 gene screening should be implemented in this subgroup of ataxias.


Assuntos
Predisposição Genética para Doença/genética , Receptores de Inositol 1,4,5-Trifosfato/genética , Mutação , Ataxias Espinocerebelares/genética , Adulto , Sequência de Aminoácidos , Sítios de Ligação/genética , Criança , Exoma/genética , Saúde da Família , Feminino , Humanos , Lectinas Tipo C/metabolismo , Masculino , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Linhagem , Análise de Sequência de DNA/métodos , Homologia de Sequência de Aminoácidos , Adulto Jovem
5.
Fetal Diagn Ther ; 16(2): 90-4, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11173954

RESUMO

The aim of this work is to evaluate, by means of an alternative method, the fetal lung maturation by means of measurement of the electrical conductivity of the amniotic fluid correlated with the phospholipid content. In vitro measurements were made in some 100 amniotic fluid samples at different gestational stages. A considerable change was observed in the electrical conductivity of the amniotic fluid in the last period of pregnancy, which reflects the increase in phospholipid concentration, when lung maturation is reached. We hope that further investigations, on wider case histories, will enable the application in vivo of the above-mentioned methodology.


Assuntos
Líquido Amniótico/fisiologia , Condutividade Elétrica , Maturidade dos Órgãos Fetais , Pulmão/embriologia , Amniocentese , Líquido Amniótico/química , Feminino , Idade Gestacional , Humanos , Fosfolipídeos/análise , Gravidez
6.
J Dairy Sci ; 81(9): 2510-7, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9785243

RESUMO

This study was undertaken to investigate research and outreach priorities for Progetto Ibleo (Project Ibleo), a center created in 1990 with tripartite government funding to serve dairy producers in the Hyblean region of Sicily. Data comprised values for production and composition of milk from 1984 to 1989 from 35 herds of Modicana cows on a system based on pasture and that from 69 input-intensive herds of Holstein cows, associated lactation and reproduction measures, and yield and composition of forages from 4 of these farms in 1988. Season had a large effect on the neutral detergent fiber and crude protein composition of forages, production and composition of milk, and predicted yield of fresh Ragusano cheese manufactured from the milk of these cows. The poorest forage quality and the poorest cow performance were observed in summer and fall months (May to October). Lactation curves that were flat, without a discernible peak, or convex were observed for both systems, especially for cows calving in spring and in the dry summer seasons (March to July). These abnormalities, signifying substantial sacrifices in production potential, probably had a complex etiology that stemmed from low nutrient intake and high neutral detergent fiber and low crude protein composition of the grazed and preserved forages. Research and outreach priorities to support the Hyblean dairy industry should include chemical evaluation of forages and other feedstuffs, low moisture ensiling of high quality winter forages, better formulation of diets that are dense with nutrients, and the shifting of calving patterns to better exploit high quality winter forages.


Assuntos
Bovinos/fisiologia , Indústria de Laticínios , Proteínas Alimentares/administração & dosagem , Ração Animal , Animais , Clima , Fibras na Dieta/administração & dosagem , Feminino , Lactação , Leite/química , Gravidez , Estações do Ano , Sicília
7.
Minerva Ginecol ; 42(4): 157-8, 1990 Apr.
Artigo em Italiano | MEDLINE | ID: mdl-2193252

RESUMO

The Authors point out the importance of ultrasonographic examination for the prenatal diagnosis of neural tube defects. They report a case of foetal craniorachischinosi, which was accidentally encountered, in the absence of clinical or anamnestic indications. They conclude that only the ultrasound method marker it possible to choose obstetric strategy when this anomaly is discovered early.


Assuntos
Meningomielocele/diagnóstico , Aborto Induzido , Adolescente , Feminino , Morte Fetal , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia
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