Phantom thoracic opacity

The etiology of the respiratory distress syndrome is dominated by pulmonary edema and the septic shock. We report a rare etiology of a respiratory distress secondary to a rupture of a well treated tuberculous latero-tracheal adenopathy. A 24-year-old woman was treated a year ago for a peripheral and mediastinal lymph node tuberculosis confirmed by the biopsy of a left supra clavicular adenopathy, by two months of isoniazid-rifampicin-pyrazinamide-ethambutol and seven months of isoniazid-rifampicin. The patient completed 9 month treatment with a good clinical and radiology course. Two months after stopping the antibacillary treatment, the patient was admitted to an intensive care unit with a respiratory distress syndrome requiring both intubation and artificial ventilation. The bronchial aspiration brought back plain pus. The telethorax from admission was normal and the retrospective history suggested the diagnostic of a ganglio-bronchial fistula which was confirmed by bronchial fibroscopy demonstrating right latero-tracheal fistula. The course was good with recovery of consciousness on the seventh day. Direct bacilloscopies and culture were negative. The digestive fibroscopy was normal. Finally, fistulization of a tuberculous adenopathy must be considered among the etiologies of respiratory distress even in a patient appropriately treated for mediastinal lymph node tuberculosis.     

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children

Objectives:To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods:This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results:Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion:Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.     

IL-17A and IL-17F genes variants and susceptibility to childhood asthma in Tunisia

Objectives: IL-17A and IL-17F are new pro-inflammatory cytokines implicated in neutrophilic inflammation and thus, involved in the pathogenesis of asthma. We investigated the possible association among asthma and IL-17A -197G/A (rs2275913), IL-17F 7488A/G (rs763780) and IL-17F 7383A/G (rs2397084).

Methods: The study was performed in 171 patients with asthma (mean age 9.5?years, 105 boys, and 66 girls) and 171 healthy individuals matched with patients in age and sex. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect genes’ polymorphisms.

Results: IL-17A -197G/A and IL-17F 7383A/G were associated with asthma in children (p?=?0.008, p?=?0.001, respectively). No association was found with IL-17F 7488A/G polymorphism. Haplotype analysis revealed a significant association between GA and AG haplotypes and asthma (p?=?0.004, p?=?0.02). When patients were stratified according to the atopic status, no significant association was detected with any of the three studied variants.

Conclusion: Our results suggested that SNPs in IL-17A and IL-17F confer susceptibility to childhood asthma in Tunisia.     

SLC26A4 variations among Graves' hyper-functioning thyroid gland

Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL). However, the SLC26A4 hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD) and asthma among human and mouse model. Here, by direct sequencing, we investigate the sequences of the 20 coding exons (2 to 21) of SLC26A4 and their flanking intron-exon junctions among patients affected with Graves' disease (GD) hyperthyroidism. Ten mono-allelic variants were identified, seven of which are intronic and previously unreported. Two, c.898A>C (p.I300L) and c.1061T>C (p.F354S), of the three exonic variants are non synonymous. The p.F354S variant is already described to be involved in PS or NSHL inheritances. The exploration by PCR-RFLP of p.I300L and p.F354S variants among 132 GD patients, 105 Hashimoto thyroiditis (HT), 206 Healthy subjects and 102 families with NSHL have shown the presence of both variants. The p.F354S variation was identified both among patients (1~HT and 3 GD) and healthy subjects (n=5). Whereas, the p.I300L variant was identified only in GD patients (n=3). Our studies provide evidence of the importance of systematic analysis of SLC26A4 gene sequences on models other than deafness. This approach allows the identification of new variants and the review of the pathogenic effects of certain mono-allelic variants reported responsible for PS and NSHL development.     

Smoking in Casablanca hospitals: knowledge,attitudes and practices

This cross sectional study took place with a self administered questionnaire between June and September 1999 and involved 1,388 subjects of whom 62.4% were men and 37.6% women. The total prevalence of smoking was 14.9%, ranging from 12.5% in paramedical staff to 15.5% in manual workers, 16.2% in doctors, 17.1% in laboratory staff, and 22.2% in administrators. The prevalence was 35.9% among men as against 2.2% among women. The study of smokers showed that 51.5% had started before the age of 21. The most common motive for starting smoking was "pleasure". Among the 45.5% who smoked at the workplace 60.5% felt concerned about it. Evaluation of the degree of nicotine dependence using the Fagerstrom score found high dependence in 21.3% of subjects. Only 24.5% of doctors warned patients against smoking in the absence of smoking related diseases or symptoms. In more than 75% of cases doctors advised against smoking in the workplace and in the home. 66.8% of staff were aware of the anti-smoking law but the legislative measures were poorly understood. Only 9% of those interviewed had taken part in an anti-smoking campaign. In conclusion, the prevalence of smoking in the hospitals of Casablanca has definitely diminished in the past 10 years but it remains relatively high in men. Hospital staff should be more involved in the fight against smoking.     

Efficacy and mechanism of action of the proteasome inhibitor PS-341 in T-cell lymphomas and HTLV-I associated adult T-cell leukemia/lymphoma

HTLV-I associated adult T-cell leukemia (ATL) and HTLV-I-negative peripheral T-cell lymphomas are associated with poor prognosis. Using pharmacological concentrations of the proteasome inhibitor PS-341, we demonstrate inhibition of cell proliferation and induction of apoptosis in fresh ATL cells, HTLV-I transformed and HTLV-I-negative malignant T cells, while normal resting or activated T lymphocytes were resistant. Combination of PS-341 and doxorubicin or etoposide resulted in an additive growth inhibition. In HTLV-I-negative malignant cells, PS-341 treatment significantly downregulated the antiapoptotic protein X-IAP and to a lesser extent c-IAP-1 and bcl-X(L) and resulted in caspase-dependent apoptosis. In HTLV-I transformed cells, the inhibition of the proteasomal degradation of Tax by PS-341 likely explains the relative protection of HTLV-I infected cells against caspase-dependent apoptosis. PS-341 treatment of these cells stabilized IkappaBalpha, IkappaBbeta, IkappaBvarepsilon, p21, p27 and p53 proteins and selectively inhibited Rel-A DNA binding NF-kappaB complexes. In both HTLV-I-positive and -negative cells, PS-341 treatment induced ceramide accumulation that correlated with apoptosis. We conclude that PS-341 affects multiple pathways critical for the survival of HTLV-I-positive and -negative malignant T cells supporting a potential therapeutic role for PS-341 in both ATL and HTLV-I-negative T-cell lymphomas, whether alone or in combination with chemotherapy.     

Delivery by forceps: indications and materno-fetal morbidity

A retrospective study concerning patients having had a delivery by means pair of forceps over a period going from 1st Jun 1999 to 31st December 2000. The frequency of the use of forceps for delivery is 4.95%. The defect of eviction was an indication of the pair of forceps. Fetal suffering was the main indication. Maternal morbidity was represented essentially by a more or less injury of the genital tract with a rate of 11.1%. The rate of neonatal mortality is 1.28%. The maternal improvement of the maternal and fetal prognosis depends on an accurate indication of the use of forceps. In certain circumstances, mainly in fetal suffering, it is often difficult to choose between the high way and the low way.