Detection of a novel splicing mutation causing analbuminemia in a Libyan family.

Background And Objectives: Analbuminemia is a very rare autosomal recessive disorder. It is an allelic heterogeneous defect caused by a variety of mutations within the albumin gene. We describe in this report two new cases of analbuminemia in Libyans.

[Profile of biochemical markers in cystic fibrosis. Prospective study about 13 cases].

Background: To study the disturbances of biochemical parameters which make it possible to evaluate the nutritional state during the cystic fibrosis.

Methods: Prospective study about 13 cases hospitalized over a 7 months period, whose age varies between 2 months and 12 years and addressed for a suspicion of cystic fibrosis. For all the patients we made a clinical collection of the data and a biochemical study.

[Postpartum levels of glycosylated hemoglobin in mothers of large baby: a prospective study].

Background: The delivery of a large baby may indicate that the mother had abnormal glucose tolerance during pregnancy. Glycosylated hemoglobin (HbA1c) concentration might be expected to identify women who had high blood glucose concentration before delivery.

Aim: The aim of this study was to identify retrospectively, gestational diabetes in mothers of large baby and determine the HbAlc cutoff value.

[Bioclinical correlations in bony metastases. Results of a prospective study. 60 cases].

Unlabelled: Our objective is to compare clinical and biological presentation of patients with bone metastatic disease.

Patients And Methods: We collected prospectively 60 patients (adults and children) with proven bone metastasis. Tumors are mainly breast cancer (25/60) or nasopharyngeal carcinoma (8/60).