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This article was published in the following journal.
Name: Pediatrics international : official journal of the Japan Pediatric Society
Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his mult...
Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 m...
The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion-associated syndromes and has identified possible genetic...
Systematic characterization of gene expression, inflammation, and neovascularization in interstitial cystitis/bladder pain syndrome was performed to obtain biological evidence supporting diagnosis and...
To use clustering analysis of patient symptoms to discover common patient subtypes in females and males with interstitial cystitis/bladder pain syndrome (IC/BPS) or chronic prostatitis/chronic pelvic ...
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten t...
Interstitial cystitis (also called painful bladder syndrome, or chronic pelvic pain syndrome) is a common condition with no known cure. It is estimated that every 15 seconds, a person in t...
A new device for interstitial cystitis is compared to inactive control to determine if it is safe and effective. The study lasts approximately 7 weeks with a 19-week follow-up period.
The purpose of this study is to determine if the combination product (URG101) is safe and effective versus its individual components (Heparin Sodium and Lidocaine Hydrochloride) for the tr...
This is a retrospective study of urine samples stored in the Beaumont BioBank for future research. The urine samples will be drawn from the urine back with patients previously diagnosed w...
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients.
Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction.
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212)