Schwartz-Jampel syndrome (osteochondromuscular dystrophy)]

BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.     

Variability of tropism and replicative capacity of two naturally occurring influenza A H9N2 viruses in cell cultures from different tissues

Studies carried out on cell permissivity are of great interest to understand virus replication and pathogenicity. We described the results of a comparative analysis of replication efficiency of two naturally occurring influenza A H9N2 variants isolated from poultry and wild birds, differing by only two substitutions Q226L and T384N, in the receptor-binding site of haemagglutinin and the 380 loop region of NA proteins, respectively. Considering the overall growth of both viruses, lung cultures ensured the most efficient growth of TUN12L226N384 strain with titres up to 10⁹ TCID₅₀/ml whereas small intestine culture was highly susceptible to the TUN51Q226T384 virus reaching a titre of 10⁶ TCID50/ml. The lowest replication was shown in liver cells. The addition of trypsin was essential for the replication of either virus in primary fibroblasts, but it had a marginal positive effect on virus replication in the four other culture types with maximum titres of 10⁸ TCID₅₀/ml. This means that in chicken, the proteolytic activation of the H9N2 viruses with the cleavage motif RSSR may be mediated by other endoproteases than trypsin. Further investigations should concentrate on the production of the appropriate set of viruses by a reverse genetics approach and the examination of cellular protease expression in chicken tissues. This would lead to a more complete understanding of the tropism of low-pathogenic Influenza A viruses.     

Effect of purslane seed supplementation on inflammatory cytokines,oxidative stress and muscle damage in response to high-intensity intermittent exercise in national athlete runners

Sport Sciences for Health - Purslane supplementation has anti-oxidative, anti-inflammatory, skeletal muscle-relaxant activities. However, it is unknown if the ingestion of purslane will affect the...     

Détection de la circulation de virus West Nile chez les Équidés dans le nord-ouest de la Tunisie

Two outbreaks of West Nile Fever (FWN) were observed in the Sahel of Tunisia in 1997 and 2003. Several cases of meningitis and meningoencephalitis have been described in humans during these two outbreaks. However, no animal or clinical findings or seroconversion have been detected despite a high seroprevalence in human beings found around the affected areas. Few data are available regarding the spreading of this virus in other parts of the country. The purpose of this study was to detect a possible WNV spread in horses in some areas of Tunisia considered to be at risk for WNV but which had not been affected by previous outbreaks. A total of 133 equine blood samples were collected in six delegations from three governorates in the north-west of Tunisia. A second blood sampling was taken from animals that were tested negative after the first sampling for IgG to identify possible seroconversion. Detection of IgG was done using competitive ELISA. A significant viral spread was detected in the study area. Out of 133 samples tested for IgG during the first sampling, 36 samples were tested positive (27.1%). Two seroconversions were detected between September and October 2008 out of 84 samples tested. Statistical analysis showed a significant association between the presence of a wetland within 10 km and seroconversion. The presence of cattle seems to be a protective factor.     

Sydenham's chorea in children]

BACKGROUND: Sydenham's chorea was the most common form of acquired chorea in childhood. Its incidence has declined since the use of antibiotics. The aim of our study was to determine the hospital incidence of this disease and to illustrate the clinical characteristics and outcome of this disease in Tunisia. POPULATION: Retrospective study of 15 cases of Sydenham's chorea, seen between 1987 and 1997. RESULTS: Our patients (five boys and ten girls) represented 5.6 per 1000 hospitalized children. Their mean age was 10.5 years. Two patients had a history of rheumatic fever and five had a history of throat infection during the month before chorea. The onset of symptoms was acute in five cases and insidious in ten. Choreic movements were generalized but asymmetrical in 12 cases, and unilateral in three. Psychological disorders were noted in nine cases and hypotonia in six. Rheumatic carditis was found in three patients. No patient had an obvious increase in sedimentation rate, and antistreptolysin were increased in 50% of cases. All patients were given haloperidol and five steroids, 11 were given antibiotics at the attack of chorea and 13 received secondary prevention with benzathine penicillin. Initially, abnormal movements disappeared in all cases after a mean of three months. Three patients relapsed and two among them still show abnormal movements and psychological disorders after a follow-up of 3 and 3.5 years respectively. CONCLUSION: Sydenham's chorea, although less frequent than previously, is not exceptional in Tunisia. Malignant forms are not observed, but two of 15 patients developed a chronic form with sequelae. No correlation is found between outcome and secondary prevention of streptococcal infections.     

Effects of high intensity interval training and aging on cardiac muscle apoptosis markers in C57BL/6 Mice

Sport Sciences for Health - Apoptosis is a specific form of programmed cell death that plays an important role in tissue homeostasis and also occurs during aging. In addition, exercise training may...