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. DESIGN AND METHODS: The 14 coding exons of the human serum albumin (HSA) gene and their intron-exon junctions were PCR amplified. The products were screened for mutations by Denaturing High Performance Liquid Chromatography (DHPLC). Samples with altered DHPLC profiles were sequenced. RESULTS: DNA sequencing revealed the presence of a novol homozygous G➔T transition in the first base of intron 11 (c.1428+1G>T), in both children. This mutation destroys the GT consensus donor sequence found at the 5' end of most intervening sequences and would cause the defective pre-mRNA splicing. CONCLUSION: Molecular diagnosis based on DHPLC and DNA sequencing represents a powerful tool to study molecular defects causing analbuminemia.

[Profile of biochemical markers in cystic fibrosis. Prospective study about 13 cases]. / Profil des paramètres biochimiques au cours de la mucoviscidose en Tunisie. Etude prospective de 13 cas.

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. RESULTS: Hypoprotidemia (protidemia < 60 g/l) was noted in 6 cases. Three cases presented a hypocalcaemia (calcemia < 2.20 mmol/l). A hypomagnesaemia (magnesemia < 0.70 mmol/L) was observed in 2 cases. The totality of the patients presented zinc concentrations lower than the normal value. Iron concentrations lower than the normal (11- 24 mmol/l) was noted in 5 cases. Four patients (4/13) presented a concentration of iron between 11.2 and 20 mmol/l, whereas a high concentration (32.3 mmol/l) was noted in only one case (7.7%). CONCLUSION: The study of the biochemical parameters allowed to evaluate the variation of some trace elements in cystic fibrosis and their consequence on the nutritional state of the patients, which constitutes an essential element for the assessment of these patients.

[Postpartum levels of glycosylated hemoglobin in mothers of large baby: a prospective study]. / Interet du dosage de l'hemoglobine glyquee (HBA1C) en postpartum chez les meres des nouveau-nes macrosomes.

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. METHODS: HbA1 was measured in 216 patients within the first three days of postpartum: 100 had large babies: weighing over than 4000 g and 113 had normal- sized babies (control group). We exclude mothers who had preterm, hypotrophy baby, stillborn, and diabetic mothers. RESULTS: The mean concentration of HbA1c was significantly higher in group with large babies than in group control (6.17% + 085 vs. 5.17 + 0.57 t = 9.78 p < 0.001). The value of HbAlc = 5.85%, evaluated by ROC curve, was considered as risk factor of macrosomia and then gestational diabetes. 83.5% of mothers with large babies had HbA1c ? 5.85 vs. 7.8% of those with normal sized babies (p < 0.0001). No other significant differences were found between the two groups in other parameters. CONCLUSION: HbA1c level may be of value as a postpartum screen for unrecognized diabetes and may help discriminate between a constitutionally large but otherwise normal newborn and a large infant of a diabetic mother. HbA1c measurements should be obtained in women with large babies, and, if upper than cutoff value found by curve ROC: 5.85%, maternal and fetal surveillance is recommended.

[Bioclinical correlations in bony metastases. Results of a prospective study. 60 cases]. / Corrélations biocliniques dans les métastases osseuses. Résultats d'une étude prospective. A propos de 60 cas.

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). All 8 children presented all with abdominal neuroblastoma. Bone lesions are lytic in 85% of cases. ALP and LDH seem to be sensitive markers for bone mestatasis with 75% and 80% pathologic rates. The highest rates have been observed in patients with multiple bones lesions (> 8) and painful metastases (more than 7 in the VAS). The median survival was 8 months (3 to 54). CONCLUSION: Even conventional, some biochemical markers as ALP and LDH remain useful in the diagnosis and prognosis in patients with proven bone metastasis.