Lyme arthritis

Evanescent arthralgias and myalgias are common early symptoms of Lyme disease. Transient, intermittent episodes of monoarticular, oligoarticular, or sometimes migratory polyarticular arthritis, lasting weeks to months, with disease-free intervals, are frequently observed in untreated patients with erythema chronicum migrans. A minority of patients develop chronic joint involvement, most commonly affecting the knee. Antibiotic therapy given during erythema chronicum migrans is often protective with regard to late joint manifestations. In chronic Lyme arthritis, however, the response to antibiotics is variable.     

Comparison of bronchial washing,brushing and biopsy for diagnosis of pulmonary tuberculosis

The diagnostic yields of bronchial washings, bronchial brushings and lung biopsy specimens were compared in 50 patients with positive Mycobacterium tuberculosis cultures. The number of positive results obtained with cultures of bronchial brushings was significantly higher than that with bronchial washings (p < 0.001). The histological study of biopsy lung material improved the rate of immediate or rapid diagnosis of tuberculosis (p<0.001).     

Nicardipine improves myocardial perfusion in systemic sclerosis

Primary scleroderma myocardial disease may be due in part to myocardial ischemia caused by a disturbance of the coronary microcirculation. We evaluated the effect of the calcium channel blocker nicardipine on myocardial perfusion assessed by thallium-201 scanning in 16 patients with systemic sclerosis. Thallium-201 single photon emission computerized tomography was performed at baseline and 90 min after 40 mg of oral nicardipine. The mean (+/- SD) number of left ventricular segments with perfusion defects significantly decreased from 6.0 +/- 2.0 at baseline to 4.1 +/- 2.3 after nicardipine (p less than 0.01). The mean global perfusion score significantly increased from 10.2 +/- 1.9 at baseline to 11.9 +/- 2.6 after nicardipine (p less than 0.02). Our study demonstrates short-term improvement in thallium-201 myocardial perfusion with nicardipine in patients with systemic sclerosis.     

Susceptibilities of ampicillin-resistant strains of Salmonella other than S. typhi to 10 antimicrobial agents.

Ampicillin-resistant strains of Salmonella other than S. typhi constitute a health problem. We tested the antimicrobial susceptibilities to 10 antibiotics of 57 of these strains isolated in a 30-month period. The rates of resistance were as follows: chloramphenicol, 40.3%; tetracycline, 33.3%; gentamicin, 5.3%; co-trimoxazole, 5.3%; nalidixic acid, 1.8%; and amoxicillin-clavulanic acid, cefotaxime, ceftriaxone, aztreonam, and ciprofloxacin, 0%. In our experience, there are alternative antibiotics with excellent in vitro activities.     

Pineal response after pyridoxine test in children

Summary To characterize the pineal response to pyridoxine, plasma melatonin was measured in one hundred and twenty children 3 hours after vitamin B₆ administration. The children, aged between 1.5 and 8 years, were divided in four groups as follows: a) control day group, grouping 27 children sampled at 9:00 and at 12:00; b) control night group, grouping 29 children sampled at 21:00 and at 24:00; c) pyridoxine day group, grouping 30 children sampled at 9:00, then intravenously (i.v.) injected with 3mg/kg of pyridoxine, and sampled at 12:00; and d) pyridoxine night group, grouping 34 children sampled at 21:00, i.v. injected with 3mg/kg of pyridoxine, and sampled at 24:00. Melatonin concentration was measured by radioimmuno assay. The data obtained showed a significant increase in melatonin levels after pyridoxine administration in the pyridoxine night group (39.87 ± 8.02pg/ml basal vs 88.45 ± 9.21 pg/ml after pyridoxine, p < 0.001). The other groups did not showed significant differences in melatonin concentrations. Statistical analysis shows that the administration of pyridoxine during the nocturnal hours represents a stimulating factor to increase the pineal production of melatonin in children.     

Mitochondrial DNA Heterogeneity in Tunisian Berbers

Berbers live in groups scattered across North Africa whose origins and genetic relationships with their neighbours are not well established. The first hypervariable segment of the mitochondrial DNA (mtDNA) control region was sequenced in a total of 155 individuals from three Tunisian Berber groups and compared to other North Africans. The mtDNA lineages found belong to a common set of mtDNA haplogroups already described in North Africa. Besides the autochthonous North African U6 haplogroup, a group of L3 lineages characterized by the transition at position 16041 seems to be restricted to North Africans, suggesting that an expansion of this group of lineages took place around 10500 years ago in North Africa, and spread to neighbouring populations. Principal components and the coordinate analyses show that some Berber groups (the Tuareg, the Mozabite, and the Chenini‐Douiret) are outliers within the North African genetic landscape. This outlier position is consistent with an isolation process followed by genetic drift in haplotype frequencies, and with the high heterogeneity displayed by Berbers compared to Arab samples as shown in the AMOVA. Despite this Berber heterogeneity, no significant differences were found between Berber and Arab samples, suggesting that the Arabization was mainly a cultural process rather than a demographic replacement.     

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss

Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting for approximately 80% of cases of genetic deafness. To date, 22 genes implicated in ARNSHL have been identified. Recently a gene, DFNB31/WHRN, which encodes a putative PDZ scaffold protein called whirlin, was found to be responsible for the ARNSHL DFNB31. We found evidence for linkage to the DFNB31locus in a consanguineous Tunisian family segregating congenital profound ARNSHL. Mutation screening of DFNB31/WHRNrevealed four nonpathogenic sequence variants and a novel frameshift mutation [c.2423delG] + [c.2423delG] that changed the reading frame and induced a novel stop codon at amino acid 818 ([p.Gly808AspfsX11] + [p.Gly808AspfsX11]). To determine the contribution of the DFNB31locus in the childhood deafness, we performed linkage analysis in 62 unrelated informative families affected with ARNSHL. No linkage was found to this locus. From this study, we concluded that DFNB31/WHRN is most likely to be a rare cause of ARNSHL in the Tunisian population.