Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 5 de 5
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Ginekol Pol ; 87(10): 711-716, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27958624

RESUMO

OBJECTIVES: The aim of the study was to analyze the origin of birth defects in pregnant women from the Kujawy-Pomerania Region, and to identify factors affecting the formation of developmental disorders in the Province. MATERIAL AND METHODS: The correlation between maternal age and fetal defects was investigated. We also attempted to determine whether environmental or family factors play a role in the formation of fetal abnormalities. RESULTS: The analysis confirmed a correlation between the incidence of chromosomal aberrations and maternal age. CONCLUSIONS: Higher rates of neural tube defects were observed in fetuses born to mothers who did not take folic acid. The influence of other factors on developmental anomalies was not confirmed.


Assuntos
Síndrome de Down/epidemiologia , Ácido Fólico/administração & dosagem , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Complexo Vitamínico B/administração & dosagem , Adulto , Transtornos Cromossômicos/epidemiologia , Síndrome de Down/diagnóstico , Síndrome de Down/prevenção & controle , Feminino , Humanos , Incidência , Idade Materna , Pessoa de Meia-Idade , Defeitos do Tubo Neural/prevenção & controle , Polônia/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Estudos Retrospectivos , Fatores de Risco
2.
Ginekol Pol ; 81(8): 629-32, 2010 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-20873127

RESUMO

Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.


Assuntos
Linhagem , Segundo Trimestre da Gravidez/genética , Displasia Tanatofórica/diagnóstico por imagem , Displasia Tanatofórica/genética , Evolução Fatal , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal
3.
Ginekol Pol ; 81(12): 940-3, 2010 Dec.
Artigo em Polonês | MEDLINE | ID: mdl-21395086

RESUMO

Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly.


Assuntos
Holoprosencefalia/diagnóstico por imagem , Holoprosencefalia/embriologia , Ultrassonografia Pré-Natal , Adulto , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Gravidez , Terceiro Trimestre da Gravidez
4.
Ginekol Pol ; 80(10): 778-81, 2009 Oct.
Artigo em Polonês | MEDLINE | ID: mdl-19943544

RESUMO

Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.


Assuntos
Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Síndrome de Smith-Lemli-Opitz/diagnóstico , Evolução Fatal , Feminino , Doenças Fetais/genética , Humanos , Recém-Nascido , Gravidez , Síndrome de Smith-Lemli-Opitz/genética
5.
Hered Cancer Clin Pract ; 4(1): 15-9, 2006 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-20222998

RESUMO

The frameshift NOD2 gene mutation 3020insC is predominantly associated with Crohn's disease, but predisposes to many types of common cancers as well. We studied the frequency of this mutant NOD2 allele in 148 breast cancer women from the Bydgoszcz region in Poland. The NOD2 mutation was present in 8.8% of the patients. The mean age at breast cancer diagnosis of the mutation carriers was 43 years. We did not find any mutation in patients diagnosed with breast cancer after the age of 50 years. There was no association of the NOD2 mutation with a strong family history of breast cancer. On the contrary, the mutation frequency (11.4%) was two times higher in women from families with a single case of breast cancer and with aggregation of other common types of cancer, especially digestive tract cancers. Low risk of breast cancer in the mutation carriers seems to be confirmed by finding the 3020insC mutation in three healthy parents of probands aged 73, 74 and 83 years, from three separate families.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...