Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper aims to identify risk factors for hip fracture in Medicare skilled nursing facility (SNF) residents and to develop a predictive model based on routinely collected administrative data (the Minimum Data Set, MDS) to identify high-risk residents. Prospective cohort study of 28,807 North Carolina Medicare SNF residents aged >65 years with a complete MDS assessment in 1999. Demographic, historical, physical, cognitive, behavioral, activities of daily living, and medication variables were obtained from the MDS. Hip fracture occurring after the first MDS assessment identified by ICD-9 code was the outcome measure. Variables significantly associated with hip fracture by chi-square test in a randomly selected derivation sample were combined in a multivariable logistic model and in models stratified by gender. The models were validated in the remaining subjects. Variables significantly related to subsequent hip fracture in the full cohort include: female sex (odds ratio 1.3, 95% confidence interval 1.0-1.7), white race (2.3, 1.6-3.5), age (1.03 per year, 1.01-1.04), cognitive impairment (1.4, 1.8-1.8), incontinence (0.68, 0.5-0.9), prior fractures (1.6, 1.2-2.1), and prior falls (1.4, 1.2-1.8). In ambulatory non-Hispanic white women, anxiety (1.5, 1.0-2.1), anxiolytic use (1.4, 1.1-1.9), wandering (1.4, 1.0-2.2), and training in community skills (1.4, 1.1-1.8) were new significant variables. For ambulatory non-Hispanic white men, education level (2.0, 1.2-3.2), weight loss (0.5, 0.2-1.0), history of osteoporosis (3.0, 1.3-6.7), pathologic bone fracture (9.7, 2.2-42.6), COPD (2.1, 1.3-3.5), glaucoma (2.6, 1.0-6.2), and standing balance impairment (1.8, 1.0-3.3) were also significant. All models were highly correlated with subsequent hip fracture, but the discriminative ability was limited (c statistic 0.678). Risk factors explained more of hip fracture risk in non-Hispanic white men (c statistic 0.793) than non-Hispanic white women (0.658). Risk factors for hip fracture in Medicare SNF residents have similarities and differences from those previously identified in community-dwelling older adults. Osteoporosis screening and intervention should focus on the healthiest, most independent subset of residents who have the greatest fracture risk.
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PMID:Risk factors for hip fracture in skilled nursing facilities: who should be evaluated? 1273 Jul 34

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant condition characterized by ophthalmologic anterior segment abnormalities and extraocular findings including dental anomalies and redundant periumbilical skin. Intragenic mutations in the homeobox gene PITX2 or the transcription factor encoding FOXC1 were identified, and genomic rearrangements encompassing either gene also cause ARS. A molecular etiology is identified in 40-60%. Extraocular anomalies occur more often with intragenic PITX2 than FOXC1 mutations. We report on a patient with infantile glaucoma presenting at age 21 months with congestive heart failure due to a dysplastic arcade mitral valve necessitating valve replacement, and mildly hypoplastic left ventricular outflow tract and aortic arch. Family history included early onset glaucoma in four relatives; congenital hip dysplasia requiring surgery in three; and an atrial septal defect in the affected maternal grandmother. Despite the absence of dental or umbilical abnormalities, anterior chamber abnormalities consistent with ARS were present in affected individuals. Molecular testing revealed a novel FOXC1 mutation (c.508C>T; p.Arg170Trp) in the proband and his affected mother; other family members were unavailable. A literature review revealed four reports of congenital heart disease associated with intragenic FOXC1 mutations, and none with intragenic PITX2 mutations. Previously, mouse studies showed Foxc1 (Mf1) expression in the developing valves and atrial septum, supporting a causal relationship of FOXC1 mutations for valvar anomalies and ASD. Hip dysplasia in three family members suggests a role for FOXC1 in the femoral head dysplasia of de Hauwere syndrome with 6p25 deletions. Further reports of clinical and molecular diagnoses will clarify genotype-phenotype correlation.
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PMID:Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. 2323 55