Esophageal atresia: data from a national cohort

PURPOSE: A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan. METHODS: All 38 national centers treating EA participated by completing for each patient at first discharge a questionnaire validated by a national committee of experts. Data were centralized by the national reference center for esophageal anomalies. Quantitative and qualitative analyses were performed, with P-values of less than 0.05 considered statistically significant. Results of the 2008-2009 data collection are presented in this report. RESULTS: Three hundred seven new living cases of EA were recorded between January 1, 2008, and December 31, 2009. The male/female sex ratio was 1.3, and the live-birth prevalence of EA was 1.8 per 10,000 births. Major characteristics were comparable to those reported in the literature. Survival was 95%, and no correlation with caseload was noted. CONCLUSIONS: Epidemiologic surveys of congenital anomalies such as EA, which is a rare disease, provide valuable data for public health authorities and fulfill one important mission of reference centers. When compared with previous epidemiological data, this national population-based registry suggests that the incidence of EA remains stable

Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l’œsophage de type III ?

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer

Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy

Primary Ciliary Dyskinesia is a heterogeneous genetic disease that is characterized by cilia dysfunction of the epithelial cells lining the respiratory tracts, resulting in recurrent respiratory tract infections. Despite lifelong physiological therapy and antibiotics, the lungs of affected patients are progressively destroyed, leading to respiratory insufficiency. Recessive mutations in Dynein Axonemal Intermediate chain type 1 (DNAI1) gene have been described in 10% of cases of Primary Ciliary Dyskinesia. Our goal was to restore normal ciliary beating in DNAI1–deficient human airway epithelial cells. A lentiviral vector based on Simian Immunodeficiency Virus pseudotyped with Vesicular Stomatitis Virus Glycoprotein was used to transduce cultured human airway epithelial cells with a cDNA of DNAI1 driven by the Elongation Factor 1 promoter. Transcription and translation of the transduced gene were tested by RT–PCR and western blot, respectively. Human airway epithelial cells that were DNAI1–deficient due to compound heterozygous mutations, and consequently had immotile cilia and no outer dynein arm, were transduced by the lentivirus. Cilia beating was recorded and electron microscopy of the cilia was performed. Transcription and translation of the transduced DNAI1 gene were detected in human cells treated with the lentivirus. In addition, immotile cilia recovered a normal beat and outer dynein arms reappeared. We demonstrated that it is possible to obtain a normalization of ciliary beat frequency of deficient human airway epithelial cells by using a lentivirus to transduce cells with the therapeutic gene. This preliminary step constitutes a conceptual proof that is indispensable in the perspective of Primary Ciliary Dyskinesia's in vivo gene therapy. This is the first time that recovery of cilia beating is demonstrated in this disease

The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design

Abstract Background Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. We previously developed a fetal urine peptide signature that predicted in utero with high precision postnatal renal function in fetuses with PUV. We describe here the objectives and design of the prospective international multicentre ANTENATAL (multicentre validation of a fetal urine peptidome-based classifier to predict postnatal renal function in posterior urethral valves) study, set up to validate this fetal urine peptide signature. Methods Participants will be PUV pregnancies enrolled from 2017 to 2021 and followed up until 2023 in >30 European centres endorsed and supported by European reference networks for rare urological disorders (ERN eUROGEN) and rare kidney diseases (ERN ERKNet). The endpoint will be renal/patient survival at 2 years postnatally. Assuming α = 0.05, 1–β = 0.8 and a mean prevalence of severe renal outcome in PUV individuals of 0.35, 400 patients need to be enrolled to validate the previously reported sensitivity and specificity of the peptide signature. Results In this largest multicentre study of antenatally detected PUV, we anticipate bringing a novel tool to the clinic. Based on urinary peptides and potentially amended in the future with additional omics traits, this tool will be able to precisely quantify postnatal renal survival in PUV pregnancies. The main limitation of the employed approach is the need for specialized equipment. Conclusions Accurate risk assessment in the prenatal period should strongly improve the management of fetuses with PUV

Sport de compétition : place et intérêt des médecines naturelles

Très tôt dans l’histoire de l’être humain, l’activité physique a fait partie des préoccupations quotidiennes de l’homme pour « la lutte la vie ». Au cours des siècles précédents, les conditions de vie et de travail étaient bien plus éprouvantes pour le corps. L’homme devait chasser pour se nourrir, travailler la terre, lutter contre le froid et les intempéries. Tout effort entrainait une importante dépense physique. Mais dès que les hommes eurent assurer leur sécurité et survie, l’instinct sportif fut sans doute un des premiers loisirs de l’homme. Les rivalités de clan à clan, de peuplade à peuplade sont les prémisses d’une compétition sportive. Or depuis toujours, le sportif est en quête perpétuelle de l’amélioration de ses performances ce qui a inéluctablement conduit au dopage. Il est également victime de blessures plus ou moins importante qui peuvent le limiter dans sa pratique. Pendant des milliers d’années, les techniques médicales se limitaient à la phytothérapie et à quelques opérations chirurgicales simples telles que la réduction des fractures. Actuellement, il y a de plus en plus de sportif que ce soit de haut niveau ou amateur qui s’inscrive dans des compétitions. Ils consultent fréquemment en quête de conseils liés à la préparation à l’effort, à la récupération ou au soulagement de traumatismes divers. La prise en charge de ces sportifs de haut niveau par les médecines non conventionnelles est en plein essor. Ces dernières, qui ont depuis longtemps montrée leur efficacité, ont toute leur place dans l’arsenal thérapeutique du sportif et propose une excellente alternative à la prise en charge classique

Géochimie, spéciation et mobilité des éléments traces métalliques (Fe, Ni, Cr et Mn) au sein des sédiments du lagon de Nouvelle-Calédonie

New Caledonia is covered on 33% of ultramafic rocks enriched in trace metals elements (Fe, Ni, Cr, Mn and Co). The erosion of these massifs represents an important source of these trace metals towards the lagoon, partially registered on the World List Heritage by UNESCO for its biodiversity. Understanding the geochemical cycle of these toxic trace metals is essential to evaluate the potential impacts on the biodiversity of this ecosystem. X-ray absorption spectroscopy (XAS) has shown that the contribution of iron sulfides is low, Ni and Fe are bearing by goethite and clays. These latter minerals representing the major phase for the Fe and Ni speciation were identified as chrysotile and green clays: a smectite (nontronite), a mica (glauconite) and a serpentine like a greenalite/berthierine. The clay minerals cycle and the green clay plays a major role in the Fe and Ni cycle, but also in Mn and to a lesser extent in the Cr cycles. The Mn speciation is shared by the clay minerals and the carbonates species whereas Cr is bearing by goethite and chromite inherited of laterite and in lesser extent by clay minerals. Cr is totally present under the reduced form which is the less toxic form. This absence of Cr(VI) is linked to the absence of Mn oxides in sediments avoiding the oxidation of Cr(III) to Cr(VI) and thus limits the impact on the environment. Finally, the chemical extractions of these metals show a relatively low bioavailability of trace metals except for Mn implying an effective long-term trapping for trace metals and thus limiting the environmental impacts even if the concentrations extracted are not negligible and can be threaten the biodiversity of the lagoon.La Nouvelle-Calédonie est formée sur 33% de son territoire de roches ultrabasiques enrichies en éléments traces métalliques (ETM) (Fe, Ni, Cr, Co et Mn). L’érosion de ces massifs représente une source importante de ces ETM vers le lagon, partiellement inscrit au patrimoine mondial par l’UNESCO pour sa biodiversité. La compréhension des cycles géochimiques de ces éléments toxiques apparaît donc essentielle pour évaluer les impacts possibles sur la biodiversité de cet écosystème. La spectroscopie d’absorption des rayons X a montré que la contribution des sulfures de fer est très faible, Ni et Fe sont portés par la goethite et les argiles. Ces derniers étant la phase majeure de ces deux éléments ont été identifiés comme du chrysotile, et des greens clays : une smectite (nontronite), un mica (glauconite) et une serpentine de type greenalite/berthierine. Le cycle des argiles joue donc un rôle majeur dans le cycle de Fe et de Ni mais aussi de Mn et dans une moindre mesure de Cr. La spéciation de Mn se partage entre les argiles et les carbonates alors que Cr est surtout porté par la goethite et la chromite hérité des massifs et en dernier par les argiles. Il est important de noter que Cr se trouve sous sa forme réduite correspondant à sa forme la moins toxique. L’absence de Cr(VI) est liée à l’absence des oxydes de Mn dans les sédiments, permettant de ne pas oxyder Cr(III) en Cr(VI). Enfin, les extractions chimiques montrent une biodisponibilité relativement faible de ces métaux à l’exception de Mn impliquant un piégeage efficace, limitant ainsi les impacts sur l’environnement même si les concentrations extraites sont loin d’être négligeables pour la biodiversité du lagon

Geochemistry, speciation and mobility of traces metals (Fe, Ni, Cr and Mn) in lagoon sediments from New Caledonia

La Nouvelle-Calédonie est formée sur 33% de son territoire de roches ultrabasiques enrichies en éléments traces métalliques (ETM) (Fe, Ni, Cr, Co et Mn). L’érosion de ces massifs représente une source importante de ces ETM vers le lagon, partiellement inscrit au patrimoine mondial par l’UNESCO pour sa biodiversité. La compréhension des cycles géochimiques de ces éléments toxiques apparaît donc essentielle pour évaluer les impacts possibles sur la biodiversité de cet écosystème. La spectroscopie d’absorption des rayons X a montré que la contribution des sulfures de fer est très faible, Ni et Fe sont portés par la goethite et les argiles. Ces derniers étant la phase majeure de ces deux éléments ont été identifiés comme du chrysotile, et des greens clays : une smectite (nontronite), un mica (glauconite) et une serpentine de type greenalite/berthierine. Le cycle des argiles joue donc un rôle majeur dans le cycle de Fe et de Ni mais aussi de Mn et dans une moindre mesure de Cr. La spéciation de Mn se partage entre les argiles et les carbonates alors que Cr est surtout porté par la goethite et la chromite hérité des massifs et en dernier par les argiles. Il est important de noter que Cr se trouve sous sa forme réduite correspondant à sa forme la moins toxique. L’absence de Cr(VI) est liée à l’absence des oxydes de Mn dans les sédiments, permettant de ne pas oxyder Cr(III) en Cr(VI). Enfin, les extractions chimiques montrent une biodisponibilité relativement faible de ces métaux à l’exception de Mn impliquant un piégeage efficace, limitant ainsi les impacts sur l’environnement même si les concentrations extraites sont loin d’être négligeables pour la biodiversité du lagon.New Caledonia is covered on 33% of ultramafic rocks enriched in trace metals elements (Fe, Ni, Cr, Mn and Co). The erosion of these massifs represents an important source of these trace metals towards the lagoon, partially registered on the World List Heritage by UNESCO for its biodiversity. Understanding the geochemical cycle of these toxic trace metals is essential to evaluate the potential impacts on the biodiversity of this ecosystem. X-ray absorption spectroscopy (XAS) has shown that the contribution of iron sulfides is low, Ni and Fe are bearing by goethite and clays. These latter minerals representing the major phase for the Fe and Ni speciation were identified as chrysotile and green clays: a smectite (nontronite), a mica (glauconite) and a serpentine like a greenalite/berthierine. The clay minerals cycle and the green clay plays a major role in the Fe and Ni cycle, but also in Mn and to a lesser extent in the Cr cycles. The Mn speciation is shared by the clay minerals and the carbonates species whereas Cr is bearing by goethite and chromite inherited of laterite and in lesser extent by clay minerals. Cr is totally present under the reduced form which is the less toxic form. This absence of Cr(VI) is linked to the absence of Mn oxides in sediments avoiding the oxidation of Cr(III) to Cr(VI) and thus limits the impact on the environment. Finally, the chemical extractions of these metals show a relatively low bioavailability of trace metals except for Mn implying an effective long-term trapping for trace metals and thus limiting the environmental impacts even if the concentrations extracted are not negligible and can be threaten the biodiversity of the lagoon

Mégavessies anténatales (évaluation de la prise en charge(2004/2011))

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocSudocFranceF

Néphrostomie percutanée chez l'enfant (indications diagnostiques et thérapeutiques à propos de 43 patients)

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF