Prevalence of hospital-acquired infection in a Tunisian hospital.

In order to estimate the prevalence of hospital-acquired infection (HAI) and research factors associated with its occurrence, a one-day prevalence survey was conducted at the Habib Bourguiba University Hospital, Tunisia. We studied 280 patients who had been present in the same ward for at least 48 h, and who had occupied a hospital bed between 17 April 2002 (midnight) and 18 April 2002 (midnight). The overall prevalence of HAI was 17.9%. The most frequently infected sites were the lungs (32%), surgical wounds (28%) and the urinary tract (20%). Microbiological documentation was available in only 28% of HAIs, and the most frequently isolated organisms were Gram-negative rods (80.8%). Results of multiple logistic regression analysis indicated that HAI is linked to the medical category, the use of intravascular devices and antibiotic prophylaxis. This survey provided information on the prevalence of HAI in Tunisian hospitals, the breakdown of infections, and HAI predisposing factors.

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive muscle discharges, which may originate from both neurogenic and myogenic alterations. We previously localized the SJS1 locus to chromosome 1p34-p36.1 and found no evidence of genetic heterogeneity. Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. In so doing, we have identified the first human mutations in HSPG2, which underscore the importance of perlecan not only in maintaining cartilage integrity but also in regulating muscle excitability.

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.

OBJECTIVE: To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset cerebellar ataxia with retained tendon reflexes (EOCA) phenotype. BACKGROUND: EOCA is a clinical syndrome delimited by Harding distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes. Molecular genetic study of patients with EOCA has demonstrated genetic heterogeneity. A form of autosomal recessive spastic ataxia has been described in Charlevoix Saguenay area in Quebec (ARSACS); the gene responsible has been mapped to chromosome 13q. METHODS: Genetic linkage analysis was performed on 18 members of a large family including 8 of 9 members with EOCA. After exclusion of FA and ataxia with vitamin E deficiency loci as well as loci of autosomal dominant cerebellar ataxias, we performed a linkage analysis to markers of 13q11-12 region. RESULTS: The 9 affected members of this family showed stereotyped clinical features with cerebellar ataxia, pyramidal syndrome, and a variable degree of axonal peripheral neuropathy. Linkage was detected between the disease locus and the microsatellite marker D13S232. Surrounding markers to D13S232 confirmed the linkage and showed the homozygosity of the affected members. CONCLUSION: The family reported here showed the same locus as autosomal recessive spastic ataxia Charlevoix Saguenay disease.

Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children.

Muscular dystrophies are characterised by continuous cycles of degeneration and regeneration resulting in an eventual diminution of the muscle mass and extensive fibrosis. In somatic cells chromosomal telomeres shorten with each round of cell division and telomere length is considered to be a biomarker of the replicative history of the cell. We have previously shown that human myoblasts have a limited proliferative capacity, and that normal skeletal muscle has a very low level of nuclear turnover. However, in patients suffering from muscular dystrophy the satellite cells will be forced to make repeated rounds of cell division, driving the cells towards senescence. In this study we have used the telomere length to quantify the intensity of the muscle cell turnover in biopsies from dystrophic patients of different ages. Our results show that as soon as the first clinical symptoms become apparent the muscle has already undergone extensive regeneration and the rate of telomere loss is 14 times greater than that observed in controls. This confirms that the decline in regenerative capacity is due to the premature senescence of the satellite cells induced by their excessive proliferation during muscle repair.

Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy.

In this study, we have evaluated the ability of human satellite cells isolated from subjects aged from 5 days to 86 years to proliferate in culture. Cells were cultivated until they became senescent. The number of cell divisions was calculated by counting the number of cells plated in culture compared to the number of cells removed following proliferation. Telomere length, which is known to decrease during each round of cell division, has been used to analyze the in vitro replicative capacity and in vivo replicative history of human satellite cells at isolation. The rate of telomere shortening in myonuclei of these muscle biopsies was also examined. Our results show that both proliferative capacity and telomere length of satellite cells decreases with age during the first two decades but that the myonuclei of human skeletal muscle are remarkably stable because telomere length in these myonuclei remains constant from birth to 86 years. The lack of shortening of mean terminal restriction fragments (TRF) in vivo confirms that skeletal muscle is a stable tissue with little nuclear turnover and therefore an ideal target for cell-mediated gene therapy. Moreover, our results show that it is important to consider donor age as a limiting factor to obtain an optimal number of cells.

Expression of myosin isoforms and of desmin, vimentin and titin in Tunisian Duchenne-like autosomal recessive muscular dystrophy.

Morphological, morphometrical, histoenzymological, immunocytochemical and biochemical analysis were performed on muscle biopsies taken from patients suffering from tunisian autosomal recessive Duchenne-like muscular dystrophy (TDLMD) selected both by Duchenne-like clinical criteria and by the presence of normal dystrophin. Data were compared to that obtained from DMD biopsies characterized by the absence of dystrophin. The distribution of myosin heavy chain isoforms, desmin, vimentin and titin were determined in type I and type II muscle fibers. The protein pattern appeared to be less affected in TDLMD than in DMD biopsies. The regenerating fibers were mainly but not exclusively type IIC; a noticeable percentage of both type I and type II fibers coexpressed fast and slow MHC isoforms in TDLMD. This percentage was lower than in DMD. The expression of embryonic, fetal, and fast/slow myosin isoforms in type IIC fibers in TDLMD and DMD suggest different fiber type transformations in these two diseases.

[Structural and ultrastructural quantitative study of skin and nerve biopsies in the diagnosis of congenital indifference to pain]. / Contribution a l'etude quantitative structurale et ultra-structurale de biopsies cutanees et nerveuse dans le diagnostic de l'indifference congenitale a la douleur.

The muscolo-cutaneous nerve, and skin biopsies from 3rd and 5th finger-tips and the back were studied in a 8-year-old girl with congenital indifference to pain, and in a control child of the same age. The tips of the fingers, and the toes were the most damaged areas. The diameters of myelinated and unmyelinated fibers of the nerve in the sick child and the control child were compared. A loss of 54% of myelinated fibers and 33% of unmyelinated fibers was observed. In the skin, the loss of myelinated fibers was 82% in the 3rd finger-tip, 78% in the 5th, and 35% in the back, and of unmyelinated fibers, 97%, 87%, and 8%, respectively. Eighty four per cent of free endings were absent in the 3rd finger-tip and they were completely absent in the 5th. As for Meissner's corpuscles, 97% were absent in the 3rd finger, and 75% in the 5th. The absence of degenerating fibers and the unimodal distribution of unmyelinated fibers raise the problem of the nosological position of this case of congenital indifference to pain, as compared to the sensory neuropathies.