A Distinctive Pattern of Diversity for the TAS2R38 Gene in North Africa

The TAS2R38 gene is involved in bitter taste perception. This study documents the distinctive diversity patterns in Northern Africa of functional SNPs rs713598 and rs1726866 at the TAS2R38 locus and places those patterns in the context of global TAS2R38 diversity. We analyzed data previously genotyped with Taqman Applied Biosystem for rs713598 and rs1726866 for 375 unrelated subjects (305 Tunisians from seven locations: Mahdia, Sousse, Kesra, Nebeur, Kairouan, Smar and Kerkennah plus 70 Libyans). Data were analyzed to present haplotypes and genotypes and were compared to the data from worldwide populations. We provide information about TAS2R38 diversity in a part of the world that is relatively under-studied. Considering respectively the two SNPs rs713598 and rs1726866, the (C-A) nucleotide haplotype leading to PV amino acid haplotype is extremely rare almost everywhere, but it is relatively frequent (between 6% and 10%) in Northern Africa where it does coexist with the globally common haplotypes (PA, AA and AV). Given its higher frequency in Northern Africa, we propose the (C-A) haplotype as a biogeographic marker for forensic purposes

Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs

The set of 55 ancestry informative SNPs (AISNPs) originally developed by the Kidd Lab has been studied on a large number of populations and continues to be applied to new population samples. The existing reference database of population samples allows the relationships of new population samples to be inferred on a global level. Analyses show that these autosomal markers constitute one of the better panels of AISNPs. Continuing to build this reference database enhances its value. Because more than half of the 25 ethnic groups recently studied with these AISNPs are from Southwest Asia and the Mediterranean region, we present here various analyses focused on populations from these regions along with selected reference populations from nearby regions where genotype data are available. Many of these ethnic groups have not been previously studied for forensic markers. Data on populations from other world regions have also been added to the database but are not included in these focused analyses. The new population samples added to ALFRED and FROG-kb increase the total to 164 population samples that have been studied for all 55 AISNPs

Electrical properties of Al-doped oxyapatites at intermediate temperature

International audienceIn order to obtain acceptable performances in SOFC, relatively high operating temperatures (~850–1000 °C) are required. That is mainly due to the low ionic conductivity of YSZ electrolyte. These temperature conditions are at the origin of the cell degradation, which justify the search for alternative electrolytes presenting the same performances but at lower temperature (~800 °C). It is in this context that the oxyapatites of general formula La10−xSi6−yAlyO27−3x/2−y/2 (x = 0, 0.67; y = 0.25, 0.50, 0.75) are studied in this work. The solid solutions are prepared by sintering the oxide powders at 1600 °C. All samples have shown a hexagonal structure with an increase in the cell parameters with the aluminium content. Electrical properties are determined by impedance spectroscopy between 169 and 790 °C. The results are treated by separating the bulk and grain boundary conductivities between 169 and 500 °C and in the form of total (bulk + grain boundary) conductivity between 500 and 790 °C. The respective influences of the activation energy and the pre-exponential factor on conductivity are analyzed. Activation energies are about 0.65 eV suggesting an interstitial mechanism. No variation of conductivity is observed with the oxygen partial pressure. Finally, La10Si5.5Al0.5O26.75 shows conductivity higher than that of YSZ at intermediate temperature

Torticollis as a sign of spinal tuberculosis

Bone localization of tuberculosis mainly affects the thoracolumbar spine. The cervical spine is rare. Its diagnosis is often late which exposes to great instability and potentially serious complications. We report the case of a 12-year old girl with no medical history, showing torticollis and high temperature without neurological complication. In the physical examination, he had torticollis and pain in the third, fourth and fifth cervical vertebra. When the biopsy was performed, we find an inter apophysis (between C7 and D1) collection. The histological examination confirmed the diagnosis of apophysis tuberculosis. The management based on tuberculosis chemotherapy and immobilization started as soon as possible

Investigation of the genetic structure of Kabyle and Chaouia Algerian populations through the polymorphism of Alu insertion markers

Background: In Algeria, as in all North Africa, Berbers constitute the old background of the population. Today, Berber speakers account for only ∼ 25% of Algerians. This decline is the product of a complex human settlement from pre-history to recent invaders. Aim: This study aims to determine the genetic diversity level within a sample of five Algerian Berber speaking populations in order to contribute to resolving issues about the North African population settlement. Subjects and methods: Two Algerian Berber groups (Kabyle and Chaouia), originated from five administrative regions from Algeria, were typed for 11 Alu Insertions. Analysis has been based on Fst genetic distance, AMOVA, NMDS and distance to the centroid model. Results: No genetic differentiation has been observed between all Algerian Berbers discarding any geographical or ethnic effect. Comparative analyses based on Fst genetic distance did not show significant affinities between North Africans and either South Europeans or Middle Easterners, except genetic proximity between Algerians and Iberians. The amount of genetic diversity among Algerians and North African populations detected by the distance to the centroid model was significant compared with other North Mediterranean populations. Conclusion: A strong genetic homogeneity has been found between Algerian Berbers. Global genetic diversity based on Alu markers is following the isolation by distance model, except for some European populations

Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure: a case report

Abstract Background Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation. We report an original technique that is a modification of the Galeazzi technique for recurrent dislocation of the patella to gain active extension in case of PTLAH. Case report A 7-year-old Caucasian boy with isolated Patellar Aplasia Hypoplasia and an extension lag of the right knee has been treated by a modified Galeazzi technique. The tendons of the semi-tendinous and gracilis muscles have been harvested and their distal insertion was kept intact. Both tendons were fixed over the top of the patella to restore knee active extension. After 6 years of follow up the patient is symptom free with a strong active extension of the operated knee. Conclusion Reconstruction of isolated hypoplasia of the patella by a modified Galeazzi procedure is a safe and reliable technique for skeletally immature patients offering satisfying long-term outcomes

A Distinctive Pattern of Diversity for the TAS2R38 Gene in North Africa

The TAS2R38 gene is involved in bitter taste perception. This study documents the distinctive diversity patterns in northern Africa of functional single-nucleotide polymorphisms (SNPs) rs713598 and rs1726866 at the TAS2R38 locus and places those patterns in the context of global TAS2R38 diversity. Data previously genotyped with TaqMan assay were analyzed for rs713598 and rs1726866 for 375 unrelated subjects (305 Tunisians from seven locations: Mahdia, Sousse, Kesra, Nebeur, Kairouan, Smar, and Kerkennah; plus 70 Libyans). Data were analyzed to present haplotypes and genotypes before comparison with data from worldwide populations. This study provides information about TAS2R38 diversity in a part of the world that is relatively understudied. Considering the two SNPs rs713598 and rs1726866, the CA nucleotide haplotype leading to the PV amino acid haplotype is extremely rare almost everywhere, but it is relatively frequent (between 6% and 15%) in northern Africa, where it coexists with the globally common amino acid haplotypes PA, AA, and AV. Given its higher frequency in North Africa, the authors propose the CA nucleotide haplotype as a biogeographic marker for forensic purposes

BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

International audienceThe aim of this study is to investigate the involvement of consanguinity on BRCA1/2 mutation incidence in Southern Mediterranean populations and to confirm their low penetrance by comparison of their recurrence in sporadic and familial breast cancer in a context of ancient consanguinity practice. Our study comprises of two parts: First, a comparison of the consanguinity rates of the South Mediterranean countries in a relationship with the frequency of BRCA1 deleterious mutations in breast cancer families and the recurrence of these mutations. Second, we investigated 23patients with a family history of breast cancer, 51 patients without a family history of breast cancer using next-generation sequencing of BRCA2 and then confirmed by Sanger sequencing for the novel mutation. As results, we clearly show a strong relationship between the frequency of BRCA1 deleterious mutations in breast cancer families and rate of consanguinity, since they are significantly inversely correlated. Four deleterious mutations were found in BRCA2 gene including a novel frame-shift mutationc.9382_9383dup in a patient with familial breast cancer and three other frame-shift mutations c.6591_6592del, c.1310_1313del and c.7654dup in patients with sporadic breast cancer.These results are discussed in a context of selective pressure of ancient consanguinity practice. In conclusion, the study of BRCA1/2 gene in Southern Mediterranean countries revealed low penetrance recurrent mutations in sporadic and familial breast cancer. These mutations have been selected in a context of ancient consanguinity practice along with protective genetic and environmental factors

Comparative study of stress and quality of life in outpatients consulting for different dermatoses in 5 academic departments of dermatology.

International audienceIn this study, perceived stress and quality of life were measured with PCV-Metra and SF-12 scales in outpatients consulting for different dermatoses in 5 academic dermatology departments for 5 consecutive days. 658 patients were enrolled in the study. Perceived stress was higher in women and the mental component of their quality of life was more altered. Perceived stress was higher in Paris than in other areas and was respectively 11.4, 10.4, 9.2 and 8.9 for psoriasis, acne, atopic dermatitis and pigmented tumours. Perceived stress was correlated to mental quality of life. Stress was more elevated in people with inflammatory dermatoses than in those with tumours. To our knowledge, this is the first comparative study of both stress and quality of life levels in different dermatoses. Stress levels were lower in people with pigmented tumours, suggesting that they can be used as controls in comparative studies because they can be considered as healthy subjects. On the contrary, patients with psoriasis had a very high level of perceived stress and a deeply altered quality of life

The Orientalisation of North Africa: New hints from the study of autosomal STRs in an Arab population

Background: Recent genomic analyses suggest that the current North African gene pool was mainly influenced by population flow coming from the East that altered the genetic structure of autochthonous Berber populations. Such genetic flow has not been extensively addressed yet using North African populations of Middle-eastern origin as reference. Aim: To discern the Middle-eastern component in the genetic background of Tunisian Arabs and evaluate the extent of gene flow from the Middle East into North African autochthonous Berber populations. Subjects and methods: This study has examined 113 Tunisians of well-known Arabian origin from Kairouan region, using 15 autosomal Short Tandem Repeats (STRs) loci. Results: No deviations from Hardy-Weinberg equilibrium were observed and all loci presented high levels of heterozygosity. Principal coordinate and STRUCTURE analyses were consistent in clustering together North African and Middle Eastern populations, likely reflecting the recent gene flow from the East dating back to the Arab conquest period. This demographic migration and the Arabisation process that submerged the original Berber language and customs seems to have be accompanied by substantial gene flow and genetic admixture. Conclusion: This study represents an additional step to obtain a comprehensive understanding of the complex demographic history of North African populations