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1.
Eur Respir J ; 23(2): 343-6, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14979514

RESUMO

Exposure to sulphur mustard (SM) gas may have extensive immediate effects on the respiratory system. However, long-term effects are far less known. This case report describes a Kurdish male child who was exposed to SM gas during a chemical attack in Iraq at 5 yrs of age. In the acute phase, the child developed severe respiratory symptoms with a chemical pneumonia. Extensive burning of the skin occurred. In the course of 10 yrs, lung function deteriorated progressively to a forced expiratory volume in one second of 30% of predicted value. Severe air-trapping occurred. The lung function abnormalities were not reversed by treatment with corticosteroids or bronchodilators. Infectious exacerbations of the child's lung disease occurred. High resolution computed tomography scan showed multiple bronchiectasis. The histological picture of an open lung biopsy was best described as a "chronic bronchiolitis".


Assuntos
Bronquiolite/induzido quimicamente , Substâncias para a Guerra Química/intoxicação , Intoxicação por Gás/diagnóstico por imagem , Gás de Mostarda/intoxicação , Biópsia , Brônquios/efeitos dos fármacos , Brônquios/patologia , Bronquiectasia/induzido quimicamente , Bronquiectasia/diagnóstico por imagem , Bronquiectasia/patologia , Bronquiolite/diagnóstico por imagem , Bronquiolite/patologia , Pré-Escolar , Doença Crônica , Progressão da Doença , Seguimentos , Volume Expiratório Forçado/efeitos dos fármacos , Intoxicação por Gás/patologia , Humanos , Iraque , Pulmão/diagnóstico por imagem , Pulmão/efeitos dos fármacos , Pulmão/patologia , Medidas de Volume Pulmonar , Masculino , Tomografia Computadorizada por Raios X
2.
Eur J Obstet Gynecol Reprod Biol ; 89(1): 85-7, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10733030

RESUMO

We report a case of aneurysm of the umbilical vein, causing fetal death at 41 weeks gestation. We conclude that these aneurysms are a complication of congenital thinning of the vessel wall and want to emphasize that in stillbirths the cause of death may only be revealed by careful placental examination, including the umbilical cord.


Assuntos
Aneurisma/diagnóstico , Veias Umbilicais , Adulto , Aneurisma/complicações , Evolução Fatal , Feminino , Morte Fetal/etiologia , Idade Gestacional , Humanos , Gravidez , Ultrassonografia Pré-Natal
3.
J Med Genet ; 36(6): 481-4, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10874639

RESUMO

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies.


Assuntos
Anormalidades Múltiplas/genética , Rim/anormalidades , Sistema Linfático/anormalidades , Microcefalia/genética , Sindactilia/genética , Anormalidades Múltiplas/patologia , Consanguinidade , Diagnóstico Diferencial , Feminino , Genes Letais , Humanos , Linfocele/congênito , Linfocele/genética , Linfocele/patologia , Masculino , Gravidez , Síndrome
4.
Genet Couns ; 9(3): 205-9, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9777343

RESUMO

Lethal hypophosphatasia, spur type: case report and fetopathological study: Hypophosphatasia (HP) is characterised by severe undermineralisation of the skeleton owing to deficiency of tissue nonspecific alkaline phosphatase. Clinically a perinatal, infantile, childhood and adult type is distinguished. Clinical signs in the perinatal type of HP show considerable overlap with other skeletal dysplasias such as osteogenesis imperfecta type IIA and type IIC, and achondrogenesis type IA. If present, "spurs" of the limbs are diagnostic for HP. We present a prenatally diagnosed case of HP and discuss the differential diagnosis based on clinical, radiological and pathological findings. Our findings indicate that two types of spurs can be distinguished in hypophosphatasia: midshaft type and joint type.


Assuntos
Doenças Fetais/patologia , Hipofosfatasia/patologia , Adulto , Consanguinidade , Diagnóstico Diferencial , Evolução Fatal , Feminino , Morte Fetal , Feto/diagnóstico por imagem , Feto/patologia , Idade Gestacional , Humanos , Gravidez , Radiografia
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