RESUMEN
A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype.
Asunto(s)
Situs Inversus/patología , Anomalías Múltiples/patología , Adulto , Encéfalo/diagnóstico por imagen , Cara/anomalías , Femenino , Deformidades Congénitas del Pie/patología , Humanos , Imagen por Resonancia Magnética , Fenotipo , Radiografía , SíndromeRESUMEN
Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
Asunto(s)
Anomalías Múltiples/genética , Árabes/genética , Cerebelo/anomalías , Corteza Cerebral/anomalías , Epilepsias Mioclónicas/genética , Anomalías Múltiples/patología , Adulto , Encéfalo/patología , Epilepsias Mioclónicas/patología , Femenino , Humanos , Discapacidad Intelectual/genética , Imagen por Resonancia Magnética , Masculino , Linaje , SíndromeRESUMEN
Two hundred positive blood culture typhoid patients admitted to Embaba Fever Hospital, Giza province, were subjected to: 1) Careful history and thorough clinical examination. 2) Complete blood picture. 3) Widal agglutination test. 4) Urine and stool cultures for Salmonellae. 5) To the isolates of the cultures, disk diffusion chloramphenicol susceptibility test, minimum inhibitory concentrations and chloramphenicol acetyl transferase test were performed. The dose of chloramphenicol was restricted to 50 mg per Kg body weight daily, whatever the route used; whether oral, rectal or intravenous. When fever did not drop up to 5 days or the patient presented with typhoid complications or the blood culture revealed resistant Salmonellae, quinolones or third generation, cephalosporins were administered. Measurement of the level of chloramphenicol in the blood was performed for every patient. Fifty (25%) patients were found to be resistant in vitro and in vivo to chloramphenicol. All their Salmonellae isolates were resistant to chloramphenicol, the mean zone size was 10 mm, the mean inhibitory concentration was 64 microgram per ml. and all were positive for chloramphenicol acetyl transferase. There was no significant difference in the serum level of chloramphenicol between susceptible and resistant groups to the drug. Results were interpreted and discussed.
Asunto(s)
Antibacterianos/uso terapéutico , Resistencia al Cloranfenicol , Cloranfenicol/uso terapéutico , Salmonella typhi/efectos de los fármacos , Insuficiencia del Tratamiento , Fiebre Tifoidea/tratamiento farmacológico , Antibacterianos/farmacología , Cloranfenicol/farmacología , Egipto , Hospitales Especializados , Humanos , Pruebas de Sensibilidad MicrobianaRESUMEN
In a randomized controlled trial, sixty chronic hepatitis B liver disease patients (HBsAg +ve and HBV-DNA +ve) were randomly allocated into 2 groups. The first group comprised of 30 patients who were subdivided into 2 subgroups according to the HBeAg/anti-HBe system. One subgroup was HBeAg-positive (12 patients) and the other was anti-HBe-positive (18 patients). All were given human lymphoblastoid IFN alpha (Wellferon-R) at a dosage of 5 MU, thrice weekly for 4 months. The other 30 patients served as a control group, six of whom were lost during the study. The initial response was loss of HBV-DNA in 66.6% of the HBeAg +ve subgroup (8/12 patients), 33% in the anti-HBe subgroup (6/18 patients) and in 8% in the control group (2/24 patients). Patients and controls were followed up for 8 months after the end of IFN therapy. A sustained response (loss of HBV-DNA) 8 months after discontinuation of IFN was attained in 5/12 patients (41.6%) of the HBeAg-positive subgroup compared to none (0/24) in the control group (p < 0.05). In the anti-HBe subgroup, a sustained response in 2/18 patients (11%) compared to none (0/24) in the controls was not significant. We conclude from this study that (Wellferon-R) at a dosage of 5 MU given thrice weekly for 4 months was significantly better (p < 0.05) than no treatment in producing a sustained response among the HBeAg +ve subgroup of patients. On the other hand, in the anti-HBe subgroup the outcome of the previous schedule was not significantly better than in controls due to the small numbers involved although 2 patients did have a sustained response.