ABSTRACT
Constitutional diseases of bone form a heterogeneous group of rare diseases of varied phenotypic presentations with a vast genetic heterogeneity. Detected mostly in childhood, they may also be diagnosed in adulthood. Medical history, clinical examination as well as biological and radiological investigations may lead to the diagnosis, which should be confirmed genetically. Joint limitations, early osteoarthritis, hip dysplasia, bone deformity, enthesopathies, bone fragility or a small height can be warning signs of a constitutional disease of bone. Establishing the diagnosis is crucial to enable optimal medical management with a specialized multidisciplinary team.
Les maladies osseuses constitutionnelles constituent un groupe hétérogène de maladies rares de présentations phénotypiques variées et d'une grande hétérogénéité génétique. Le plus souvent détectées dans l'enfance, elles peuvent également être diagnostiquées à l'âge adulte. L'anamnèse, l'examen clinique et les bilans biologiques et radiologiques permettent d'orienter le diagnostic, qui devra être confirmé par une analyse génétique. Les limitations articulaires, l'arthrose précoce, les dysplasies de hanches, les déformations osseuses, les enthésopathies ou la fragilité osseuse ainsi qu'une petite taille sont des signes d'alerte pour rechercher une maladie osseuse constitutionnelle. Établir le diagnostic est crucial pour permettre une prise en charge optimale, multidisciplinaire et spécialisée.
Subject(s)
Bone Diseases , Hip Dislocation, Congenital , Osteoarthritis , Humans , Bone Diseases/diagnosis , Bone Diseases/etiology , Bone Diseases/therapy , Physical ExaminationABSTRACT
INTRODUCTION: Gastrointestinal stromal tumour is a pathology that originates from the interstitial cells of Cajal and differentiates from other mesenchymal neoplasm by expression of CD117 oncogene on Immunohistochemistry test. Colon and Rectal GISTs constitutes of approximately 5% of all gastrointestinal GISTs. The past decade has witnessed a dramatic change in the treatment of rectal cancer. Preoperative, perioperative and postoperative, management has changed thanks to new chemotherapy regimens and emergence of novel surgical techniques. Our aim is to investigate if same change can be implemented for rectal GISTs management. METHODS AND ANALYSIS: This protocol is compliant with the Preferred Reporting Items for Systematic Review and Meta-Analysis protocols (PRISMA-P) guidelines. Exclusion and inclusion criteria are outlined within this protocol. Points of interest and objectives are described within this protocol. The search strategy, aims to identify all articles on "Rectal GISTs". DISCUSSION: The choice of resection type surgery depends upon the location and size of rectal GIST. Neoadjuvant Imatinib therapy yields tumour shrinkage in at least 50% and is associated with a prolonged disease-free survival for intermediate and high-risk patients. This review will also allow a summary clinicopathological features and prognostic factors of rectal GISTs. ETHICS AND DISSEMINATION: The Centre for Reviews and Dissemination, University of York acknowledged that this systematic review is within the register scope. This review will be published in a peer-reviewed journal and will be presented at various national and international conferences.
ABSTRACT
Nuances lacing the organization of sexuality across cultures and contexts shape sexual behavior and identity. In this article, the culture and understandings of sexual identity and behavior in Canadian men's federal prisons are examined to reveal how prisoners construct and interpret their own sexuality, as well as that of others, within the heteronormative prison space. Drawing from interviews with formerly incarcerated men, we explore how sexuality constitutes a product of dominant cultural discourses that differentiates between sexual behavior and identity. We frame how sexuality is constructed and regulated in prison within the theoretical context of shame and stigmatization, finding definitions of heterosexuality that do not preclude same-sex sexual activity.
