Etude odontologique comparative des Afars et des Somalis.

Metrical and morphological characters of teeth of Afars and Somalis who are living in the town of Djibouti have been compared. No relevant differences have been found between them.Les caractères métriques et morphologiques des dents des populations Afars et Somalis de la ville de Djibouti ont été comparés. Cette étude n'a pas permis de reconnaître de différences significatives entre les deux ethnies.Cluzel C., Stalens H., Dehedin J. Etude odontologique comparative des Afars et des Somalis.. In: Bulletins et Mémoires de la Société d'anthropologie de Paris, XIII° Série. Tome 7 fascicule 1, 1980. pp. 13-27

Autosomal dominant polycystic kidney disease in the first year of life. Report of a case with no family history.

Autosomal recessive polycystic kidney disease (RPKD) (also called infantile polycystic kidney disease) and autosomal dominant polycystic kidney disease (DPKD) (or adult form) are the two main types of genetic polycystic kidney diseases (PKD) encountered in children and infants. We report here a case of DPKD with no family history and discuss the main features leading to the differential diagnosis between these two types of PKD, their prognosis and the importance of making the right diagnosis for the genetic counselling

A TNFR1 Genotype with a Protective Role in Familial Rheumatoid Arthritis

International audienceObjective. Results of genome scans in rheumatoid arthritis (RA) have suggested that the tumor necrosis factor receptor I (TNFRI) and TNFRII loci (TNFR1 and TNFR2) are susceptibility loci. A TNFR2 polymorphism was found to be associated with familial RA. TNFR1 is mutated in TNFR-associated periodic syndrome (TRAPS). We undertook this study to test the TNFR1 exonic polymorphism closest to the TRAPS mutations site (+36 A/G) for association with RA. Methods. DNA samples were available from two groups of the French Caucasian population: 1) 100 families with 1 RA patient and both parents and 2) 86 RA index patients from families with at least 2 siblings with RA (affected sibpairs [ASPs]). The +36 A/G polymorphism of TNFR1 was genotyped by polymerase chain reaction-restriction fragment length polymorphism. The analysis was performed using the transmission disequilibrium test, the genotype relative risk, and a linkage-based test previously described. Results. A negative association between RA and the +36 A/A genotype, suggested in the first sample (P = 0.084), was demonstrated in the second (ASP RA) sample (odds ratio [OR] 0.465; P = 0.012) and confirmed by the linkage-based test (OR 0.17; P = 0.008). The protective genotype, present in 41% of controls, was less frequent in RA patients: 33% in the first sample, 24% in the ASP RA sample, and 11% in the linkage-derived subgroup. Distribution of both TNFR2 196 R/R and TNFR1 +36 A/A genotypes in the ASP RA sample showed that both suspected genotypes were exclusive. Conclusion. We found evidence for an association between RA and a TNFR1 protective genotype, restricted to familial RA. Distribution of the TNFR2 196 R/R and TNFR1 +36 A/A genotypes in familial RA could suggest an interaction between TNFR1 and TNFR2 in the genetic susceptibility for RA

New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

International audienc

New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

International audienc

Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

5th Congress of the European-Academy-of-Neurology (EAN), Oslo, NORWAY, JUN 29-JUL 02, 2019International audienc