Men from Sub-Saharan Africa Living in Worker Hostels in France: A Hidden Population with Poor Access to HIV Testing.

Delayed presentation to care among HIV-infected individuals continued to be frequent in France. Migrants are at high risk for late presentation. This cross-sectional study investigated barriers to HIV testing in the specific population of men from sub-Saharan Africa living in four migrant worker hostels in Paris, France. Factors associated with never having been tested for HIV were examined using logistic regression. In all, 550 men participated, coming mainly from Mali and Senegal, with 31 % having lived in France for less than 5 years, and 25 % without any health insurance. Only 37 % have ever been tested for HIV. Not having health insurance was the main risk factor for never-testing [adjusted odds ratio (aOR) 2.4; 95 % confidence interval (CI) 1.4-4.0]. Despite free and anonymous HIV testing available at dedicated public screening centers, 63 % of men living in migrant worker hostels had never been tested for HIV.

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

BACKGROUND: Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2. METHODS: We screened 164 families with ADP for expansions in the SCA2, 3, and 17 genes and for the G2019S mutation in LRRK2. The SCA2 CAG/CAA repeat expansion was sequenced to determine its structure. The phenotypes of patients with ADP caused by the SCA2, LRRK2, and unknown mutations were compared, as well as those of SCA2 patients with interrupted or uninterrupted expansions of the same size. RESULTS: Three French ADP families had SCA2 mutations. The expansions ranged from 37 to 39 repeats and were interrupted and stable upon transmission. All patients (n = 9) had levodopa-responsive parkinsonism without cerebellar signs. They had significantly more symmetric signs and less rigidity than ADP caused by the G2019S mutation in LRRK2 or by unknown mutations. Interestingly, two sisters carrying both the SCA2 and the G2019S LRRK2 mutations had markedly earlier onset than their mother with only SCA2. In contrast, similar-sized but uninterrupted repeats were associated with ADCA in which cerebellar ataxia was constant and associated only rarely with one or more mild parkinsonian signs. CONCLUSION: These results suggest that the configuration of the SCA2 CAG/CAA repeat expansions plays an important role in phenotype variability. Uninterrupted SCA2 repeat expansions found in families with autosomal dominant cerebellar ataxia result in somatic mosaicism and produce large hairpin RNAs, which may interact with double-stranded RNA-binding proteins. These characteristics are modified by interruption of the SCA2 repeat expansion as found in families with autosomal dominant parkinsonism.

[Neonatal forms of congenital long QT syndrome]. / Formes néonatales du syndrome de QT long congénital.

UNLABELLED: The neonatal congenital long QT syndrome (LQTS) is rare and of bad prognosis due to the presence of severe ventricular arrhythmia and conduction abnormalities. METHODS: we included 24 propositus newborns from our population with LQTS. Genetic study was possible in 19 cases. RESULTS: the diagnosis of LQTS was made according to a QT prolongation associated with a sinusal neonatal bradycardia (n=9) or a 2/1 AV block (n=15). The onset presentation consisted of syncope (n=2), torsades de pointes (n=7), cardiovascular collapse (n=5), cardiac arrest (n=1). The mean QTc was at 550+60 ms. During the neonatal period the treatment consisted of beta-blocking agents in all cases, associated with a definitive pacemaker implantation in 10 cases with 2/1 AV block. Three newborns with a 2/1 AV block died during the first month of life (one case due to a septecemia after implantation of a pacemaker, and two who were waiting for that implantation). All survivors remained asymptomatic during a follow-up period of 7 years. In all cases with a 2/1 AV block we identified mutations in HERG (n=8). Newborns with isolated sinusal bradycardia presented all a mutation in KCNQ1 (n=9). CONCLUSION: the LTQS with 2/1 AV block is preferably associated with mutation in HERO with a bad initial prognosis.

[Butel's hip screw-plate in osteosynthesis of fractures of the upper end of the femur. Apropos of 241 osteosyntheses (100 true cervical fractures and 141 fractures of the trochanter)]. / La vis-plaque B.H.P. dans l'ostéosynthèse des fractures de l'extrémité supérieure du fémur. A propos de 241 ostéosynthèses (100 fractures cervicales vraies et 141 fractures du massif trochantérien).

Butel's hip plate was used for osteosynthesis of 241 fractures of upper end of femur (100 true cervical - 141 trochanteric and subtrochanteric fractures). Results for true cervical fractures were assessed as satisfactory in 89.5% of cases, with only 3 pseudarthroses and 4 cases of femoral head necrosis (2 septic, 2 aseptic), a total complication rate of 7.5%. These clinical results confirm the value of screw fixation at several cephalic anchorage sites (demonstrated biomechanically) in true cervical fractures. Results in trochanteric and subtrochanteric fractures were rated as satisfactory in 86.9% of cases, complications including 2 ruptures of plate, 1 sepsis and 4 early loosening of plate. The latter sequela was avoided by an improved choice of indication for the procedure and by substitution of this compound material (screw-plate) for a monobloc piece ("anti-loosening cervicocephalic screw apparatus"), in compound fractures of trochanter.