Prise en charge en physiothérapie d’une clientèle aînée atteinte d'un cancer du poumon

Dans le cadre du cours PHT-6113Introduction: Le cancer du poumon est une pathologie fréquente et mortelle qui affecte plus particulièrement les aînés. Cette population présente une diminution de la fonction et une réduction de la qualité de vie secondaire à la pathologie elle-même ou aux divers traitements médicaux (chirurgie, radiothérapie, chimiothérapie). La préservation de la qualité de vie est souvent l’objectif principal des traitements chez cette clientèle. Objectifs: Recenser les données probantes sur le cancer du poumon afin de guider une prise en charge optimale, adaptée aux aînés et pour les professionnels de la physiothérapie. Méthodologie: Les évidences les plus récentes ont été recensées. Résultats: Les outils standardisés d’évaluation avec les meilleures qualités métrologiques et les diverses modalités de traitements ont été recensés en lien avec les déficiences et limitations principales des aînés atteints de cancer du poumon. Les traitements en physiothérapie doivent comprendre un programme d’exercices d’aérobie en période pré et postopératoire. Puis, pour les patients recevant des traitements de radiothérapie et de chimiotherapie, les programmes d’exercices doivent combiner des exercices respiratoires, d’aérobie et de renforcement musculaire afin d’améliorer les capacités à l’effort et de réduire les symptômes associés. Finalement, les divers moyens utilisés en soins palliatifs ont été recueillis. Conclusion: Il n’y a pas de consensus sur la prise en charge des aînés avec le cancer du poumon. Cependant, le physiothérapeute doit s’impliquer dans l’évaluation globale et adaptée aux aînés, comprenant des outils spécifiques à cette clientèle. Quant au traitement en physiothérapie, il doit mettre l’emphase sur l’état cardio-respiratoire de la personne

Early Diagnosis of Ongoing Metabolic Bone Disease of Prematurity with Elevated Serum Alkaline Phosphatase

International audienc

Early elevated alkaline phosphatase as a surrogate biomarker of ongoing metabolic bone disease of prematurity

International audienceVery low birth weight (VLBW) neonates present a high risk of metabolic bone disease (MBD). Our main objective was to determine the easiest way to make an early diagnosis of this disease by identifying surrogate biomarkers before any radiological signs occurred. We conducted in our NICU a 6-month observational prospective study, with inclusion of all singleton VLBW neonates. We collected clinical and biological data, and nutritional intakes during hospitalization. We defined biological MBD (bMBD) as alkaline phosphatase (ALP) levels superior to 600 UI/L at day of life 30 (DOL30) and performed a case-control analysis. Nine out of 30 patients (30%) exhibited bMBD. All have extremely low birth weight and were significantly younger in gestational age (GA) and smaller at birth. There was no statistically significant difference in nutritional intake between bMBD and control groups. In the bMBD group, phosphatemia was lower since DOL3. ALP was already significantly higher at DOL15, and way beyond normal range.Conclusions: Our results showed that even the strict respect of nutritional guidelines cannot completely prevent bMBD in high-risk patients and suggest that an early screening from DOL15, with ALP levels greater than 500 UI/L, could be sufficient for detection of upcoming MBD.What is known: • Metabolic bone disease of prematurity (MBD) definition is not consensual, but biological changes appear earlier than radiological signs of rickets. • MBD management relies on biological evidence. Treatment is based on phosphate and/or calcium and calcitriol supplementation.What is new: • Studying phosphocalcic biological assessment in very low birth weight neonates, we showed respect of nutritional guidelines could not protect from biological MBD. • Increase in alkaline phosphatase (ALP), about 500 UI/l at day of life 15, could be a biomarker of MBD with no need of X-ray evaluation and sufficient to begin a treatment to prevent osteopenia

Percutaneous vertebroplasty in tumoral spinal fractures with posterior vertebral wall involvement: Feasibility and safety

International audienceto evaluate the technical feasibility and safety of CT and fluoroscopy guided percutaneous vertebroplasty in the treatment of tumoral vertebral fractures with posterior wall involvement

The revised ghent nosology; reclassifying isolated ectopia lentis

International audienceInherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutations over the last 20 years to assess what impact the new Ghent nosology has on these. Indeed, 57/123 probands (46.3%) are now classified as MFS according to the revised Ghent nosology and 37/96 mutations (38.5%) reported to cause isolated EL have also been found in patients with aortic dilation/dissection. These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

International audienceHigh-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations collected in UMD databases for MSARD genes (UMD-MSARD) are rarely reported, including the most frequent ones, in global scale initiatives for variant annotation such as the NHLBI GO Exome Sequencing Project (ESP), the Exome Aggregation Consortium (ExAC), and ClinVar. The predicted pathogenic mutations reported in global scale initiatives but absent in locus-specific databases (LSDBs) mainly correspond to rare events. UMD-MSARD databases are therefore the only resources providing access to the full spectrum of known pathogenic mutations. They are the most comprehensive resources for clinicians and geneticists to interpret MSARD-related variations not only primary variants but also secondary variants

Actionable Genes, Core Databases, and Locus-Specific Databases

International audienceAdoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wherefores of these questioning, it is necessary to understand how they are selected during the filtering process and how their proportion can be estimated. It is likely that SVs are underestimated and that our capacity to label all true SVs can be improved. In this context, Locus-specific databases (LSDBs) can be key by providing a wealth of information and enabling classifying variants. We illustrate this issue by analyzing 318 SVs in 23 actionable genes involved in cancer susceptibility syndromes identified through sequencing of 572 participants selected for a range of atherosclerosis phenotypes. Among these 318 SVs, only 43.4% are reported in Human Gene Mutation Database (HGMD) Professional versus 71.4% in LSDB. In addition, 23.9% of HGMD Professional variants are reported as pathogenic versus 4.8% for LSDB. These data underline the benefits of LSDBs to annotate SVs and minimize overinterpretation of mutations thanks to their efficient curation process and collection of unpublished data. (C) 2016 Wiley Periodicals, Inc