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This study may provide information that may serve as the foundation for a larger research study to address issues regarding the causes, diagnosis, and treatment of osteoporosis in the Down syndrome patient population.
Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Health Services Research
Skeletal Status Assessment of a Down Syndrome Population
University of AR-Medical Sciences-Genetics Clinic
Not yet recruiting
University of Arkansas
Published on BioPortfolio: 2014-08-27T03:12:44-0400
Impaired thrombotic status is associated with adverse cardiovascular events. Patients with acute coronary syndrome (ACS) are at increased cardiovascular risk. The aim of the study is to de...
The aim of this study is to assess the frequency of metabolic syndrome in Down syndrome patients because the prevalence of diabetes mellitus and obesity is higher in individuals with Down ...
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To determine the sensitivity and specificity of the visual assessment of BAY 94-9172 PET images in detecting cerebral β-amyloid in individuals with Down Syndrome (DS) compared to individu...
The purpose of this study is to assess the validity and reliability of an abstinence syndrome assessment tool used in pediatric patients with iatrogenic opioid dependence.
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary...
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Diffuse infiltrative lymphocytosis syndrome (DILS) is the term used for sicca syndrome in HIV patients and has similar clinical manifestations as Sjögren syndrome (SS). In this nationwide population-...
Congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies (CLOVES) syndrome belongs to the spectrum of overgrowth syndromes caused by postzygotic mosaic act...
Hip instability is frequent in patients with Down syndrome. Recent studies have suggested that skeletal hip alterations are responsible for this instability; however, there are currently no studies si...
A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
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