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1.
Acta Trop ; 68(1): 121-8, 1997 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-9352008

RESUMO

A 5-year old female from Bal'a, Tulkarm area, Palestine, was admitted with an 8 month history of fever, excessive night sweating, abdominal distension and enlargement, weight loss and sever anorexia. She was investigated elsewhere without reaching specific diagnosis. On admission, the history and symptoms were compatible with visceral leishmaniasis and bone marrow aspirate was positive for Leishmania amastigotes. The serum titer, using IFAT, was 1:640 for L. infantum and 1:320 for L. major promastigotes. When bone marrow material was also subjected to PCR followed by RFLP enzyme analysis, three fragments of the PCR product of the parasite present were obtained: two fragments of 260 bp and one fragment of 80 bp, identical with the pattern obtained with L. donovani. The patient received sodium stibogluconate, 200 mg IM for 30 days. Six months after treatment, the spleen was 2 cm below the costal margin, the liver was not palpable and she gained 1 kg. This case alerts general practitioners, pediatricians and health authorities to the presence of visceral leishmaniasis in Palestine and to the possibility of the disease being encountered in Jordan.


Assuntos
Leishmania donovani/isolamento & purificação , Leishmaniose Visceral/diagnóstico , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Animais , Pré-Escolar , Feminino , Humanos
2.
J Med Genet ; 34(7): 559-63, 1997 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-9222963

RESUMO

Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. There is also articular cartilage involvement which gives it some clinical resemblance to rheumatoid arthritis. We report here on six subjects from one inbred family from Jordan. Based on previously published reports and this one, we review the clinical and radiological features and discuss the genetics and differential diagnosis of the disorder. We suggest the addition of the word "spondyloepiphyseal" to the name adopted by the International Working Group on Constitutional Diseases of Bone, to become "progressive pseudorheumatoid spondyloepiphyseal dysplasia". We also speculate on candidate genes for this disorder.


Assuntos
Osteocondrodisplasias/genética , Adulto , Artrite Juvenil/diagnóstico , Criança , Pré-Escolar , Colágeno/genética , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/classificação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Linhagem , Fenótipo , Radiografia
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