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1.
EMHJ-Eastern Mediterranean Health Journal. 2010; 16 (1): 70-74
en Inglés | IMEMR | ID: emr-158377

RESUMEN

The aim of this study in Tunisia was to classify ketosis-onset diabetes in adult patients. All patients aged >/= 30 years without known diabetes, presenting with ketosis and admitted to our department were studied. Patients with secondary or gestational diabetes and those on corticoid therapy or with coinciding infection were excluded. The data included clinical characteristics, immunological markers and beta-cell function. Of the 63 patients, islet-cell antibodies were present in 27.0%, glutamic acid decarboxylase antibodies in 25.4% and thyrosin phosphatase antibodies in 19.0%. beta-cell functional reserve was preserved in 54.0%. Our results confirm that patients with ketosis-onset diabetes mellitus in adulthood are a heterogeneous group


Asunto(s)
Humanos , Adulto , Masculino , Femenino , Cetoacidosis Diabética , Islotes Pancreáticos/inmunología , Biomarcadores
2.
Revue Maghrebine de Pediatrie [La]. 2010; 20 (5): 263-267
en Francés | IMEMR | ID: emr-133633

RESUMEN

Peroxisome biogenesis disorders associate the spectrum of Zellweger syndrome and Rhizomelic chondrodysplasy. We have studied two cases of Zellweger syndrome and a case of neonatal adrenoleucodystrohpy. Clinical picture consisted with neonatal hypotonia with seizures in all cases, facial dysmorphia in two cases and a punctata chondrodysplasia in one case. Deafness and blindness were found in two cases. Cerebral tomography revealed white matter hypodensities in all cases. The diagnosis of Zellweger syndrome was enhanced by high level of plasmatic very-long-chain fatty acids and deficiency of DHAP-AT activity and b oxidation of C26:0 in fibroblasts. Ultrastructural studies showed peroxisomal ghosts in one patient. Genetic analysis detected a punctual mutation on PEX 26 gene. The prognosis was poor with the death of the two Zellweger at the age of 9 month with resistant seizures, and at the age of 4 years for the ALD. The prenatal diagnosis was performed in one family

4.
EMHJ-Eastern Mediterranean Health Journal. 2007; 13 (3): 536-543
en Francés | IMEMR | ID: emr-157022

RESUMEN

We evaluated cardiovascular risk factors and their association in patients in Sahel, hospitalized for coronary disease over the period 1994-1998. The clinical features of 3455 patients [72.4% men, 1741 with myocardial infarction, 1714 with unstable angina] were analysed on hospital admission. The prevalence of smoking, dyslipidaemia, hypertension, diabetes and obesity was 77.4%, 39.4%, 28.5%, 42.5% and 25.1% respectively in men and 2.9%, 43.7%, 59.2%, 56.6% and 31.9% respectively in women. With this risk factor profile a national strategy of primary prevention and heart health promotion is needed in Tunisia


Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Hipertensión/complicaciones , Obesidad , Fumar/efectos adversos , Diabetes Mellitus , Índice de Masa Corporal
5.
Maghreb Medical. 2006; 26 (380): 158-160
en Francés | IMEMR | ID: emr-182677

RESUMEN

Maple syrup urine disease [MSUD] is an antosomal recessive metabolic disorder caused by decreased activity of this branched chain alpha-ketacid dehydrogenase. Work object is to clear the clinical, therapeutical and evolutive characteristics of this disease, through a retrospective study of seven patients identified over a 12 years period in Kairouan Pediatric department. The mean age of diseasis revelation was 7 days [2 to 12 days]. The consanguinity was found in 5 cases, neurological diseas dominate the clinical manifestations. The DNPH test was positive in five cases. The diagnosis was confirmed by the AAC in blood and OAC in urines. All the 7 new born died in a mean age of 21 days. The light incidence, problems of management and the poor prognosis underline the improtance of antenatal diagnosis


Asunto(s)
Humanos , Masculino , Femenino , Enfermedad de la Orina de Jarabe de Arce , Diagnóstico Prenatal , Enfermedades Metabólicas , Aminoácidos de Cadena Ramificada
6.
Maghreb Medical. 2006; 26 (378): 56-59
en Francés | IMEMR | ID: emr-78949

RESUMEN

Non -ketotic hyperglycinaemia is an autosomal recessive disorder of inborn glycine metabolism caused by a defect in the glycine cleavage system. This disease leads to severe neurologic disorders beginning frequently in the neonatal period. The authors report the six cases of affected newborns diagnosed in the Neonatal Unit of le Centre de Maternite et de Neonatalogie de Tunis during a period of 17 years


Asunto(s)
Humanos , Masculino , Errores Innatos del Metabolismo , Recién Nacido
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