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1.
Genet Mol Res ; 3(2): 288-92, 2004 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-15266400

RESUMO

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.


Assuntos
Anormalidades Múltiplas , Cromossomos Humanos Par 13 , Trissomia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/reabilitação , Pré-Escolar , Feminino , Humanos , Fenótipo , Síndrome , Trissomia/genética
2.
Genet. mol. res. (Online) ; 3(2): 288-292, jun. 2004.
Artigo em Inglês | LILACS | ID: lil-387946

RESUMO

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Cangucu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.


Assuntos
Humanos , Feminino , Pré-Escolar , Anormalidades Múltiplas , Cromossomos Humanos Par 13 , Trissomia , Anormalidades Múltiplas , Fenótipo , Síndrome
3.
J Pediatr (Rio J) ; 72(1): 27-31, 1996.
Artigo em Português | MEDLINE | ID: mdl-14688971

RESUMO

A cross sectional study survey was carried out among physicians who work at children's clinics in Pelotas. The doctors were interviewed by medical students about the prescription of tea for children under six months, risk factors and breastfeeding. About half of the interviewed physicians prescribed tea. The main reasons for that were: intestinal colic (35%), diet supplementation (21%), and oral rehydration (18%). The relationship between tea and diarrhoea, tea and malnutrition, tea and weanning was acknowledged by 19%, 47% and 83% of them, respectively. These association remained significant (p<0.05) even after adjustments were allowed for graduation time and pos-graduation courses. The conclusion is that some common aspects of children's diet are not well managed by most of these doctors.

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