Acute respiratory failure in obesity

Obstructive sleep apnea, obesity-related hypoventilation - a hypoventilation which is independent of apneas and increased by sleep -, and hypoxemia related to local ventilation-perfusion disorders are the main mechanisms of respiratory failure occurring during acute respiratory decompensation following an often minimal triggering event. Non-invasive ventilation has been found to be an effective treatment, particularly with a ventilator capable of maintaining positive expiratory and pressure. The level of the expiratory positive airway pressure must be adapted to cure episodes of obstructive apnea or hypopnea. The level of the inspiratory positive airway pressure (pressure support ventilator), or the tidal volume (volume-controlled ventilator) must be adapted to correct the residual hypoventilation. These adaptations can be made by proper assessment of nocturnal SaO(2) recordings. In particularly severe cases, use of endotracheal ventilation may be necessary to control a state of shock or consciousness disorders incompatible with the patient cooperation necessary for non-invasive ventilation.     

Néphropathie lupique liée à un déficit immunitaire commun variable d’évolution favorable sous immunoglobulines intraveineuses

We report a 24-year-old woman who presented with a nephrotic syndrome as the revealing manifestation of systemic lupus erythematosus (SLE) and an associated hypogammaglobulinemia related to a common variable immunodeficiency (CVID). Outcome of SLE was favourable with intravenous immunoglobulin treatment solely. Relationships between SLE and CVID are discussed.     

t(X;14)(p11.4;q32.33) is recurrent in marginal zone lymphoma and up-regulates GPR34

Genetic events underlying pathogenesis of nodal and extranodal marginal zone lymphoma are not completely understood. We report here a novel t(X;14)(p11.4;q32.33) identified in 4 lymphoma cases: 2 with a mucosa-associated lymphoid tissue lymphoma, one with a nodal marginal zone lymphoma and one with gastric diffuse large B-cell lymphoma. In all cases, lymphoma evolved from a previous auto-immune disorder. Fluorescence in situ hybridization and molecular studies showed that t(X;14), which is mediated by immunoglobulin heavy chain locus, targets the GPR34 gene at Xp11.4. Upregulation of GPR34 mRNA and aberrant expression of GPR34 protein has been demonstrated in 3 presented cases by quantitative real-time polymerase chain reaction and immunohistochemistry, respectively. GPR34 belongs to the largest family of cell surface molecules involved in signal transmission that play important roles in many physiological and pathological processes, including tumorigenesis. Although functional consequences of t(X;14) have not been identified, our studies suggest that up-regulated GPR34 activate neither nuclear factor-κB nor ELK-related tyrosine kinase.     

Clinical and microbiological assessment of trachoma in the kolofata health district, far north region, cameroon

Background and aims: Trachoma is a sight-threatening process triggered by the infection of the conjunctiva with Chlamydiae. Blindness associated with trachoma was reported in Sahelian areas of Cameroon. However, data on the prevalence of this neglected infection in the Far North Region are not available. The aim of this study was a) to assess clinical trachoma and b) to detect Chlamydia in the conjunctiva of trachomatous populations living in the Far North Regions of Cameroon.Methods: A total of 2,423 randomly selected children (1–10 years) and 1,590 women over 14 from randomly selected villages from the Kolofata Health District (115,000 inhabitants) were included in a cross-sectional study in February 2009. Trained staff examined and obtained conjunctival swabs from trachomatous subjects. DNA was extracted and amplified to detect Chlamydia DNA by real-time PCR. The quality of sampling was assessed by quantifying the number of epithelial cells.Results: Children (2,397 or 98.9% of the predicted number) and women (1,543; 97.0%) were examined. The prevalence of follicular trachoma (TF) in children was 21% (95% CI 17.8–24.5) and of intense inflammatory trachoma (TI) 5.2% (95% CI 3.6–7.3). Among the women, trichiasis (TT) was observed in 3.4% (95% CI 2.4–4.7), corneal opacities (CO) in 1.4% (95% CI 0.8–2.3) and trachoma-related blindness in 0.9% (95% CI 0.4–1.8). Conditions related to income, illiteracy, latrines, water supply and animals wandering close to dwellings were similar in all the villages. PCR was positive in 35% of children with active trachoma and in 6% of adult females presenting TT and/or related corneal opacities.Conclusion: The prevalence of trachoma and the severe trachoma sequelae found during this survey underline the urgent need to implement efficient blindness prevention interventions to improve the visual future of the people in the Sahelian region.     

Activating mutations in human acute megakaryoblastic leukemia

Oncogenic activation of tyrosine kinase signaling pathway is recurrent in human leukemia. To gain insight into the oncogenic process leading to acute megakaryoblastic leukemia (AMKL), we performed sequence analyses of a subset of oncogenes known to be activated in human myeloid and myeloproliferative disorders. In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients. The novel mutations were analyzed using BaF3 cells, showing that JAK3 mutations were activating mutations. Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay.     

The short arm of chromosome 6 is nonrandomly rearranged in secondary myelodysplastic syndromes

Eight patients with a myelodysplastic syndrome showed a structural rearrangement of the short arm of chromosome #6 involving the distal segment 6p22----6pter. In four cases the myelodysplastic disorder appeared after treatment with chemo- and/or radiotherapy. Cytogenetically, the 6p anomaly was consistently associated with abnormalities of chromosome #5 and/or #7 in seven of eight cases. We believe we identified a new site on 6p that is nonrandomly involved in iatrogenically and possibly also environmentally induced malignant hematologic disorders.     

Snacking habits in dutch adolescents

The longitudinal and multidisciplinary study “Growth and Health of Teen- agers” was carried out in the Netherlands at two secondary schools. In this article the snacking habits of 13 1 girls and 102 boys of 12–17 years of age are reported as well as the nutrient values and the methods applied. For the whole age range about 20% of the total daily energy intake was supplied by snacks. Snacksprovided 10% of the protein intake, 18–29% of the fat intake, 25–30% of the total carbohydrate intake and about 10% of calcium and iron intake. The consumption of alcoholic beverages increased strongly with age (5–65% “users,” from 1 to about 15 g alcohol per “user”) and is the most important source of “empty” energy.     

Impaired up-regulation of polo-like kinase 2 in B-cell chronic lymphocytic leukaemia lymphocytes resistant to fludarabine and 2-chlorodeoxyadenosine: a potential marker of defective damage response

The functional evaluation of ataxia telangiectasia mutated (ATM) and p53 was recently developed in B-cell chronic lymphocytic leukaemia (B-CLL), a disease in which the response to DNA damage is frequently altered. We identified a novel biomarker of chemosensitivity based on the induction of DNA damage by the purine nucleoside analogues (PNA) fludarabine and 2-chlorodeoxyadenosine (CdA). Using genome-wide expression profiling, it was observed that, in chemosensitive samples, PNA predominantly increased the expression of p53-dependent genes, among which PLK2 was the most highly activated at early time points. Conversely, in chemoresistant samples, p53-dependent and PLK2 responses were abolished. Using a quantitative real time polymerase chain reaction, we confirmed that PNA dose- and time-dependently increased PLK2 expression in chemosensitive but not chemoresistant B-CLL samples. Analysis of a larger cohort of B-CLL patients showed that cytotoxicity induced by PNA correlated well with PLK2 mRNA induction. Interestingly, we observed that failure to up-regulate PLK2 following PNA and chemoresistance were not strictly correlated with structural alterations in the TP53 gene. In conclusion, we propose that testing PLK2 activation after a 24-h incubation with PNA could be used to investigate the functional integrity of DNA damage-response pathways in B-CLL cells, and predict clinical sensitivity to these drugs.     

Hydrocholecystitis in children and newborn infants. Apropos of 3 cases

We report two cases of hydrocholecystitis in children and one in a neonate. One child had hepatitis A and the other had typhoid fever. A beta-hemolytic group B streptococcal infection was found in the neonate. In all three cases, the first manifestation was an abdominal mass and treatment of the causative disease ensured recovery. These three observations provided us with the opportunity for reviewing the literature. Isolated hydrocholecystitis is distinguished from hydrocholecystitis as a symptom. The clinical evaluation and diagnostic investigations are described in detail; special attention is given to abdominal ultrasonography. Etiology and pathophysiology, as well as management are discussed. Our three cases and the review of the literature confirm the benign prognosis of this condition.