[Musculoskeletal hand disorders in musicians]. / Les pathologies musculo-squelettiques de la main chez les musiciens.

Music is often associated with joy, pleasure and leisure. However, like any other profession, it has its constraints and risks.The purpose of this update is to present a non-exhaustive inventory of musculoskeletal hand disorders most frequently associated with music practice.All music instruments are concerned. The difference lies in damage location as well as in the frequency of specific pathologies according to the used instrument. The most feared disorder by musicians is focal dystonia, which is characterized by a painless and repetitive coordination disorder. It only appears in the realization of specific professional movements. The overuse syndrome and the nerve entrapment syndrome constitute other dreaded disorders. Specific and multidisciplinary care is often necessary.

La musique rime souvent avec joie, plaisir et loisir. Cependant, comme toute autre profession, elle a ses contraintes et ses risques. Cette mise au point a pour objectif de faire un inventaire, non exhaustif, des pathologies musculo-squelettiques de la main les plus fréquemment associées à la pratique de la musique. Aucune famille d'instruments n'est épargnée. La différence réside dans la localisation de l'atteinte ainsi que dans la fréquence de l'association entre certains instruments et une pathologie précise. La dystonie de fonction, caractérisée par un trouble de la coordination indolore mais répétitif, est une pathologie redoutée par les musiciens. La symptomatologie ne se manifeste que lors de la réalisation de certains gestes professionnels précis. Le syndrome de surmenage ainsi que les syndromes canalaires peuvent également se rencontrer. Une prise en charge spécifique et multidisciplinaire est souvent nécessaire.

Update on the genetics of bardet-biedl syndrome.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for approximately 70-80% of cases, and triallelic inheritance has been suggested in about 5%. Many minor features can be helpful in making the clinical diagnosis. Recently, the use of next-generation sequencing technologies has accelerated the identification of novel genes and causative disease mutations in known genes. This report presents a concise overview of the current knowledge on clinical data in BBS and the progress in molecular genetics research. A future objective will be the development of BBS diagnosis kits in order to offer genetic counseling for families at risk.

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study is to provide a comprehensive clinical and molecular analysis of a cohort of 11 Tunisian BBS consanguineous families in order to give insight into clinical and genetic spectrum and the genotype-phenotype correlations. Molecular analysis using combined sequence capture and high-throughput sequencing of 30 ciliopathies genes revealed 11 mutations in 11 studied families. Five mutations were novel and six were previously described. Novel mutations included c.1110G>A and c.39delA (p.G13fs*41) in BBS1, c.115+5G>A in BBS2, c.1272+1G>A in BBS6, c.1181_1182insGCATTTATACC in BBS10 (p.S396Lfs*6). Described mutations included c.436C>T (p.R146*) and c.1473+4A>G in BBS1, c.565C> (p.R189*) in BBS2, deletion of exons 4-6 in BBS4, c.149T>G (p.L50R) in BBS5, and c.459+1G>A in BBS8; most frequent mutations were described in BBS1 (4/11, 37%) and BBS2 (2/11, 18%) genes. No phenotype-genotype correlation was evidenced. This data expands the mutations profile of BBS genes in Tunisia and suggests a divergence of the genetic spectrum comparing Tunisian and other populations.

[Transscaphoid perilunate dislocation with proximal displacement of the lunate and proximal scaphoid. A case report]. / Fracture-luxation trans-scapho-rétrolunaire du carpe avec énucléation antérieure du lunatum et du fragment proximal du scaphoïde. À propos d'un cas.

We report the case of a patient who suffered from an unusual anatomic form of trans-scaphoid trans-styloid volar dislocation of the lunate with proximal displacement of both the lunate and the proximal pole of scaphoid, proximal to the radiocarpal joint line. Proximal row carpectomy was performed. A good anatomic and functional result was observed at 3 years of follow-up. Etiopathogeny, therapeutic and outcome modalities are discussed.

[An unusual location of juxtaosseous ossified lipoma. A case report]. / Une localisation inhabituelle d'un lipome ossifié juxtaosseux. À propos d'un cas.

We report a case of juxtaosseous ossified lipoma. Clinical and radiological features make it an exceptional case, because of its location at the hand and presence of cortical erosion of the subjacent bone. However, the histological study of this rare benign tumor showed neither cytonuclear atypia nor increasing number of mitosis. It made easy its surgical treatment, without any functional sequelae. The patient reported no local recurrence in the follow-up; the risk is low, given its histological character.