Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Stoneman Syndrome; A Comprehensive Review
View through CrossRef
Stoneman syndrome also known as Fibrodysplasia ossificans progressiva (FOP), or Munchmeyer disease is an extremely rare autosomal dominant genetic disorder of connective tissue caused by heterozygous missense mutation in the bone morphogenetic protein (BMP) type I (Activin A receptor, type I [ACVR1]) leading to secondary skeleton formation, the joints get affected resulting in progressive loss of mobility. The median lifespan of patients suffering from FOP is approximately 40 years of age. Most patients are wheelchair-bound by the end of the second decade of their life and commonly die due to complications of thoracic insufficiency syndrome. There is no effective treatment for FOP; potential treatment may be based on future interventions that block ACVR1 gene. This includes most recent updates in the definition, epidemiology, signs and symptoms, etiopathogenesis, and treatment of FOP.
Global Research Online
Title: Stoneman Syndrome; A Comprehensive Review
Description:
Stoneman syndrome also known as Fibrodysplasia ossificans progressiva (FOP), or Munchmeyer disease is an extremely rare autosomal dominant genetic disorder of connective tissue caused by heterozygous missense mutation in the bone morphogenetic protein (BMP) type I (Activin A receptor, type I [ACVR1]) leading to secondary skeleton formation, the joints get affected resulting in progressive loss of mobility.
The median lifespan of patients suffering from FOP is approximately 40 years of age.
Most patients are wheelchair-bound by the end of the second decade of their life and commonly die due to complications of thoracic insufficiency syndrome.
There is no effective treatment for FOP; potential treatment may be based on future interventions that block ACVR1 gene.
This includes most recent updates in the definition, epidemiology, signs and symptoms, etiopathogenesis, and treatment of FOP.
Related Results
Evaluating the Science to Inform the Physical Activity Guidelines for Americans Midcourse Report
Evaluating the Science to Inform the Physical Activity Guidelines for Americans Midcourse Report
Abstract
The Physical Activity Guidelines for Americans (Guidelines) advises older adults to be as active as possible. Yet, despite the well documented benefits of physical a...
Differential Diagnosis of Neurogenic Thoracic Outlet Syndrome: A Review
Differential Diagnosis of Neurogenic Thoracic Outlet Syndrome: A Review
Abstract
Thoracic outlet syndrome (TOS) is a complex and often overlooked condition caused by the compression of neurovascular structures as they pass through the thoracic outlet. ...
Three in One: Systemic Lupus Erythematosus, HELLP Syndrome, and Antiphospholipid Syndrome: A Case Report and Literature Review
Three in One: Systemic Lupus Erythematosus, HELLP Syndrome, and Antiphospholipid Syndrome: A Case Report and Literature Review
Abstract
Introduction
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease commonly affecting women of reproductive age. Its overlap with HELLP syndrome (Hemolysi...
Metabolic syndrome and neuroprotection
Metabolic syndrome and neuroprotection
Introduction: over the years, the prevalence of metabolic syndrome has increased dramatically in developing countries as a major by-product of industrialization. Many factors, such...
Determinants of Metabolic Syndrome among Malaysian Government Employees
Determinants of Metabolic Syndrome among Malaysian Government Employees
Introduction: The metabolic syndrome comprises a collection of cardiovascular disease risks, which has been demonstrated to predict type 2 diabetes mellitus and cardiovascular dise...
Morris syndrome (Androgen Insensitivity Syndrome)
Morris syndrome (Androgen Insensitivity Syndrome)
Morris syndrome, also known as Androgen Insensitivity Syndrome (AIS), is an intriguing and extraordinary genetic condition that exerts a remarkable influence on individuals with ma...
Treatment of postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome with mesalazine
Treatment of postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome with mesalazine
CONTEXT: Recent studies support the hypothesis that postinfectious irritable bowel syndrome and some irritable bowel syndrome patients display persistent signs of minor mucosal inf...
Wellens Syndrome: Prevalence, Risk Factors and Coronary Angiographic Variation. A Cross-Sectional Study
Wellens Syndrome: Prevalence, Risk Factors and Coronary Angiographic Variation. A Cross-Sectional Study
Abstract
Background: Wellens syndrome complicates acute coronary syndrome and, if unmanaged, can lead to immanent myocardial infarction. This study aimed towards determinin...