Mycobacterium abscessus and Children with Cystic Fibrosis

We prospectively studied 298 patients with cystic fibrosis (mean age 11.3 years; range 2 months to 32 years; sex ratio, 0.47) for nontuberculous mycobacteria in respiratory samples from January 1, 1996, to December 31, 1999. Mycobacterium abscessus was by far the most prevalent nontuberculous mycobacterium: 15 patients (6 male, 9 female; mean age 11.9 years; range 2.5–22 years) had at least one positive sample for this microorganism (versus 6 patients positive for M. avium complex), including 10 with >3 positive samples (versus 3 patients for M. avium complex). The M. abscessus isolates from 14 patients were typed by pulsed-field gel electrophoresis: each of the 14 patients harbored a unique strain, ruling out a common environmental reservoir or person-to-person transmission. Water samples collected in the cystic fibrosis center were negative for M. abscessus. This major mycobacterial pathogen in children and teenagers with cystic fibrosis does not appear to be acquired nosocomially

Bone Marrow Transplant

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy

Trente maladies rares en dermatologie et la grossesse (interactions et modalités de prise en charge)

La grossesse au cours des maladies rares est un évènement particulier, sur lequel peu de données scientifiques sont disponibles. Ce travail est une revue de la littérature mondiale sur les interactions entre 30 maladies rares en dermatologie et la grossesse, leur prise en charge obstétricale ainsi que l'éventuelle tératogénicité des thérapeutiques.TOULOUSE3-BU Santé-Centrale (315552105) / SudocSudocFranceF

Prise en charge odontologique des patients immunodéprimés

Le système immunitaire est l'ensemble des mécanismes biologiques permettant à un organisme de reconnaître et tolérer le soi et reconnaître et rejeter 1 non-soi. Son bon fonctionnement est indispensable au maintien de l'intégrité de l'organisme. Les patients immunodéprimés présentent de grandes variétés étiologiques immunologiques. ils sont particulièrement sensibles aux infections qui ont comme point de départ la cavité buccale. Nous nous proposons de déterminer les modifications immunitaires qui influent sur l'état bucco 0 dentaire à travers quelques pathologies caractéristiques de désordres immuns. Le chirurgien 0 dentiste, acteur essentiel du système de soins doit être prévenu du risque infectieux majeur que ces patients développent et doit être capable d'en assurer le suivi.The immune system is the set of biological mechanisms to enable an organization to recognize and tolerate the self and recognize and reject non-self. Its proper functioning is essential to maintaining the integrity of the organization. Immunocompromised patients have largE varieties immunological etiology. They are particularly susceptible to infections that as a starting point the oral cavity. We propose to determine the immune changes that affect the oral health status through some pathologies characteristic of immune disorders. The dentist, a key player in the health care system must be notified of major infectious risk that these patients develop and be able to monitor.MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Odontologie (341722110) / SudocMONTPELLIER-BU Médecine (341722104) / SudocSudocFranceF

Simple bone cyst associated with florid osseous dysplasia: 2 case reports

The occurrence of a simple bone cyst (SBC) is known to be more frequent among the patients affected by florid osseous dysplasia (FOD). Conventional treatment of SBC involves surgical fenestration of the cavity, which frequently leads to resolution. However, in the cases of large cavities, such as those found in cases of FOD, the advisability of surgical intervention remains in question. Two cases of SBC associated with a FOD are reported in two African women (Cameroonian 36 years old and Gabonese 72 years old). The large size of the SBC cavities appears unusual and exceptional being possibly the largest (12 cm diameter) reported case in the literature). Following surgical exploration and fenestration in these cases, the size of the SBC did not stop increasing, though a significant amount of new bone clearly appeared at the fenestration sites seen on the control CT scans (1 year later). In the light of the two presented cases, the outcome of the surgical treatment of large SBC associated with a FOD appears unconvincing, as the cavities did not decrease in volume. Though the patient did not appear to suffer any detrimental effects of surgical intervention, the benefit of such intervention remains in question and the outcome in these two case studies suggests that in the absence of symptoms, long term follow up is all that is necessary

Long-term noninvasive ventilation in patients with cystic fibrosis

Background: The benefits of long-termnoninvasive positive pressure ventilation (NPPV) have not yet been evaluated in patients with cystic fibrosis (CF). Objectives: To evaluate the effect of 1 year of NPPV on lung function in patients with advanced CF. Methods: Data were obtained from the French CF Registry. Patients who started NPPV (ventilated group, n = 41) were compared to matched controls (control group, n = 41). Each ventilated patient was matched to a control 1 year before the start of NPPV (year –1) for gender, CFTR genotype, age ± 5 years and forced expiratory volume in 1 s (FEV1) ± 10%. The ventilated group was compared to the control group at year –1, during the year of NPPV initiation (year 0) and 1 year after NPPV (year +1). Results: At year –1, the two groups were comparable with regard to forced vital capacity (FVC; 43.7 vs. 49.1% in the ventilated group and the control group, respectively) and FEV1 (28.2 vs. 28.5%). At year 0, the ventilated group had significantly greater declines in FVC (–3.6 ± 9.2 vs. +0.8 ± 8.9%, p = 0.03) and in FEV1 (–3.0 ± 6.7 vs. +2.6 ± 4.4, p < 0.0001). At year +1, the decreases in FVC (–2.1 ± 10.0 vs. –2.2 ± 9.9%) and in FEV1 (–2.2 ± 6.7 vs. –2.3 ± 6.2%) were similar in both groups. Conclusions: These data show that NPPV is associated with stabilization of the decrease in lung function in patients with advanced CF

The In Vitro and In Vivo Effects of a Low-Molecular-Weight Fucoidan on the Osteogenic Capacity of Human Adipose-Derived Stromal Cells

International audienceHuman adipose-derived stromal cells (hASCs) may hold potential for bone tissue engineering. Osteogenic differentiation of these cells is crucial to bone formation. Low-molecular-weight fucoidan (LMWF) is a sulfated polysaccharide that potentiates several growth factors, including pro-angiogenic growth factors. To investigate whether hASC preconditioning with LMWF promoted bone repair, we compared the effects of LMWF and low-molecular-weight heparin on hASC phenotype and osteogenic differentiation. LMWF did not modify the stem-cell phenotype of hASCs but enhanced their osteogenic differentiation (formation of calcium deposits, increased activity and expression of alkaline phosphatase, and increased expression of osteopontin and runt-related transcription factor 2). However, when hASCs were exposed to LMWF before their adhesion to biphasic calcium phosphate particles and implantation in a bone-growth mouse model, no bone formation was apparent after 5 or 8 weeks, probably due to cell death. In conclusion, LMWF may hold promise for enhancing the osteogenic differentiation of hASCs before their implantation. However, concomitant vascularization would be required to enhance bone formation

Low-Molecular-Weight Fucoidan Induces Endothelial Cell Migration via the PI3K/AKT Pathway and Modulates the Transcription of Genes Involved in Angiogenesis

Low-molecular-weight fucoidan (LMWF) is a sulfated polysaccharide extracted from brown seaweed that presents antithrombotic and pro-angiogenic properties. However, its mechanism of action is not well-characterized. Here, we studied the effects of LMWF on cell signaling and whole genome expression in human umbilical vein endothelial cells and endothelial colony forming cells. We observed that LMWF and vascular endothelial growth factor had synergistic effects on cell signaling, and more interestingly that LMWF by itself, in the absence of other growth factors, was able to trigger the activation of the PI3K/AKT pathway, which plays a crucial role in angiogenesis and vasculogenesis. We also observed that the effects of LMWF on cell migration were PI3K/AKT-dependent and that LMWF modulated the expression of genes involved at different levels of the neovessel formation process, such as cell migration and cytoskeleton organization, cell mobilization and homing. This provides a better understanding of LMWF's mechanism of action and confirms that it could be an interesting therapeutic approach for vascular repair

Value of the Chlorhexidine Decontamination Method for Recovery of Nontuberculous Mycobacteria from Sputum Samples of Patients with Cystic Fibrosis

The chlorhexidine method was compared to the N-acetyl-l-cysteine-NaOH-oxalic acid decontamination method currently recommended for the recovery of nontuberculous mycobacteria (NTM) from patients with cystic fibrosis. Sputum samples (n = 827) treated with chlorhexidine yielded twice as many NTM-positive cultures as those treated by the reference method (54 [6.50%] versus 27 [3.25%]; P < 0.0001) despite a higher contamination rate (20% versus 14.2%; P = 0.0017)