A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Frontiers in Endocrinology, 2021 Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying genetic
Melissa M. Formosa +23 more
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Developments in rare bone diseases and mineral disorders [PDF]
Therapeutic Advances in Chronic Disease, 2017 In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI.
Siobhan, Bacon, Rachel, Crowley
openaire +2 more sources
Annals of Medical Science and Research, 2022 Osteopetrosis is a rare inherited metabolic bone disease characterized by failure of osteoclasts to resorb bone leading to impairment of bone modeling and remodeling.
Niladri Das +6 more
doaj +1 more source
Non-infectious pulmonary complications of hematopoietic stem cell transplantation [PDF]
, 2014 Noninfectious pulmonary complications of hematopoietic stem cell transplant are currently more prevalent than infectious complications. Unfortunately, the pathophysiology basis is not completely understood.
Baloglu, Orkun +2 more
core +1 more source
Poliartraljinin Nadir Bir Sebebi: Osteopoikilozis
Sakarya Tıp Dergisi, 2021 Osteopoikilosis or spotted bone disease is a rare bone dysplasia of unknown etiology. It is characterized by an abnormality in bone maturation process and often found incidentally on radiologic examination.
Özlem Altındağ +3 more
doaj +1 more source
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: outcomes and pitfalls in relation to bone mineral density [PDF]
, 2017 The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I.
D'Eufemia, Patrizia +7 more
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Diagnostics, 2022 Rosai–Dorfman Disease (RDD), also known as sinus histiocytosis, is included in the group of rare diseases, characterized by proliferation and accumulation of histiocytes in the lymph nodes (lymphadenopathy), most often involving the cervical ganglion ...
Razvan Adam +6 more
doaj +1 more source
Radiotherapy in langerhans cell histiocytosis : a rare indication in a rare disease [PDF]
, 2013 Introduction: Langerhans Cell Histiocytosis (LCH) represents a rare benign disorder, previously designated as "Histiocytosis X", "Type II Histiocytosis" or "Langerhans Cell Granulomatosis".
Bruns, Frank +8 more
core +1 more source
A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders
Frontiers in Endocrinology, 2020 Introduction: Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive radiographic imaging techniques and genetic analyses, bone biopsies are still ...
Sanne Treurniet +5 more
doaj +1 more source
Incidental Lymphoplasmacytic Lymphoma Diagnosed Following Robotic-Assisted Laparoscopic Prostatectomy for Prostate Cancer [PDF]
, 2019 © 2019 The Author(s). This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
Agarwal, Samita +5 more
core +2 more sources