A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non-functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein.

Influence of bleaching by ultrasound on fatty acids and minor compounds of olive oil. Qualitative and quantitative analysis of volatile compounds (by SPME coupled to GC/MS).

The effects of bleaching using high power ultrasound (20 kHz) on the quality of olive oil were considered in this study, in order to verify the modifications that can occur in fatty acid composition and minor compounds. During the treatment of olive oil under ultrasonic waves, a rancid odour has been detected. Treated olive oils show no significant changes in their chemical composition but the presence of some volatile compounds, due to ultrasonic treatment. Some off-flavour compounds (hexanal, hept-2-enal and 2(E),4(E)-decadienal) resulting from the sonodegradation of olive oil have been identified. A wide variety of analytical techniques (GLC, HPLC and GC/MS) were used to follow the quality of bleached olive oils with ultrasonic waves by the determination of the amounts of certain minor compounds such as sterols and tocopherols. Steradienes, resulting from the dehydration of sterols, were detected with small quantities especially in severe conditions of sonication. Solid phase micro-extraction (SPME) coupled to gas chromatography was known to be a sensitive technique to follow changes in the oxidative state of vegetable oils by measuring the amount of volatile materials produced during the refining process.

[Genetic analysis of Turner syndrome: 89 cases in Tunisia]. / Analyse génétique du syndrome de Turner : étude tunisienne de 89 cas.

Turner's syndrome (TS) affects about 1/2500 female infants born alive. The syndrome results from total or partial absence of one of the two X chromosomes normally present in females. We report the results of a retrospective analysis of 89 cases of TS observed during a six-year period (2000-2005). The patients' age ranged from two days to 51 years at the time of this analysis. Most patients were adults (48%). The aim of this study is to ascertain the principal clinical features leading to a request for a karyotype, searching for a possible relationship between chromosomal anomalies and clinical expression of TS. Pediatric patients were referred for statural retardation or dysmorphic features, while reproduction anomalies were the main indication for karyotyping in patients aged over 20 years. Mosaicism was prevalent (47%), whereas the homogeneous karyotype 45,X was found in only 32% of the patients; structural anomalies were found in 21%. Regarding the advanced age of our patients, we established a relationship between chromosome anomalies and the clinical expression of TS, based on an analysis of stature and reproduction disorders. Short stature and primary amenorrhea were correlated with total deletion of one chromosome X or imbalanced gene dosage due to structural X anomalies. Whereas cases of infertility, recurrent miscarriages and secondary amenorrhea were associated with a mosaic karyotype pattern (45,X/46,XX or 45,X/46,XX/47,XXX ...), with a slight mosaicism in most cases. Thus, chromosome investigations should be performed in cases of reproduction failure even for women with normal stature.

Young microbes for adult obesity.

Gut microbes are active participants of host metabolism. At birth, child physiology is committed towards healthiness or sickness depending, in part, on maternal condition (i.e. lean vs obesity) and delivery. Finally, changes from breastfeeding to solid food also account to define gut microbiota ecology in adulthood. Nowadays, alterations of gut microbiota, named dysbiosis, are acquired risk factors for multiple diseases, especially type 2 diabetes and obesity. Despite important evidence linking nutrition to dysbiosis to energetic dysmetabolism, molecular mechanisms for causality are still missing. That the status of gut microbiota of mother and child is crucial for future diseases is witnessed by adulthood overweight and obesity observed in children with dysbiosis. In this short review we highlight the importance of early life events related to the microbiota and their impact on future adult disease risk. Therefore, our effort to treat or prevent metabolic diseases should be addressed towards early or previous life steps, when microbial decisions are going to affect our metabolic fate.

Alteration of chemical composition and the oxidative stability of bleached pomace-olive oil on activated clays.

This work is a contribution to the study of the bleaching process, which is a very important stage in the refining process of vegetable oils and used to reduce or convert undesired constituents to harmless ones from fats and oils. The virgin olive oil, taken as reference, and the pomace-olive oil were bleached in the optimal conditions using Tunisian bleaching earths (South of Tunisia) which were activated in our laboratory and compared with commercial clays. It was shown that activated Tunisian clays are characterized by a very important adsorptive capacity, comparable to that of commercial clays. Also, the physicochemical stability of bleached oils was studied. The fatty acid composition (GC), the triacylglycerol composition (HPLC), and the oxidative stability (UV spectrometry) allowed us to conclude that oils, bleached with the Tunisian activated clays, do not undergo considerable physicochemical alterations and remain corresponding to the international standards for refined oils for human consumption.

[Deep benign fibrous histiocytoma: a case report]. / L'histiocytofibrome bénin profond: à propos d'un cas.

Bening fibrous histiocytoma is one of the most frequent benign tumors. Most tumors are found in the skin, particularly on the limbs. Tumor size is usually small. According to the WHO, a deep location is found for less than 1% of all benign fibrous histiocytomas. Most deep tumors occur in the subcutaneous tissue. Deep locations in other organs have also been reported. We report a case and discuss the pathological and clinical aspects of this rare tumor.