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)

During a five year period, 320 patients suffered from acute myocardial infarction (AMI) and within the next twelve months became candidates for surgery for either appendicitis (99 patients) or for a hip fracture (221 patients). An evaluation of the mortality at the second event (i.e. appendicitis or hip fracture) in relation to the time between AMI and second event, was done following the intention to treat principle. Appendicitis occurred with the same incidence during all 12 months following AMI. The second event mortality was independent of the time interval from AMI to second event. Age, infarction prior to index infarction and congestive heart failure were prognostically important in relation to second event mortality, but did not affect the constant second event mortality during the first year following AMI. Hip fracture occurred more often during the first months following AMI, where the second event mortality was highest. Congestive heart failure either prior to index infarction or at the index infarction was prognostically important in relation to second event mortality. The relatively high mortality in the first months after AMI could partly be explained by an association between congestive heart failure and hip fracture in the first months after AMI. We conclude that the "operative" mortality in patients with recent AMI is high. The mortality is related to congestive heart failure and not to the time between AMI and surgery.
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PMID:[Assessment of the surgical risk. Is the time between myocardial infarction and a possible surgical procedure of significance for a surgical risk?]. 195 83

The aim of this study was to estimate the hospitalization incidence and the total number of hospital days related to all fractures and osteoporotic fractures in the year 2000 in Switzerland and to compare these with data from other frequent disorders in men and women. The official administrative and medical statistics database of the Swiss Federal Office of Statistics (SFOS) from the year 2000 was used. It covered 81.2% of all registered patient admissions and was considered to be representative of the entire population. We included the ICD-10 codes of 84 diagnoses that were compatible with an underlying osteoporosis and applied the best matching age-specific osteoporosis attribution rates published for the ICD-9 diagnosis codes to the individual ICD-10 codes. To preserve comparability with previously published data from 1992, we grouped the data related to the ICD-10 fracture codes into seven diagnosis pools (fractures of the axial skeleton, fractures of the proximal upper limbs, fractures of the distal upper limbs, fractures of the proximal lower limbs, fractures of the distal lower limbs, multiple fractures, and osteoporosis) and analyzed them separately for women and men by age group. Incidences of hospitalization due to fractures were calculated, and the direct medical costs related to hospitalization were estimated. In addition, we compared the results with those from chronic pulmonary obstructive disease (COPD), stroke, acute myocardial infarction, heart failure, diabetes and breast carcinoma from the same database. In Switzerland during 2000, 62,535 hospitalizations for fractures (35,586 women and 26,949 men) were registered. Fifty-one percent of all fractures in women and 24% in men were considered as osteoporotic. The overall incidences of hospitalization due to fractures were 969 and 768 per 100,000 in women and men, respectively. The hospitalization incidences for fractures of the proximal lower limbs and the axial skeleton increased exponentially after the age of 65 years. The direct medical cost of hospitalization of patients with osteoporosis and/or related fractures was 357 million CHF. Hip fractures accounted for approximately half of these costs in women and men. Among other common diseases in women and men, osteoporosis ranked number 1 in women and number 2 (behind COPD) in men. When compared with data from 1992, the average length of stay had shortened by 8.4 days for women and 4.7 days for men, leading to a decrease of almost 40% in direct medical costs related to acute hospitalizations. This apparent decrease in cost might result from a shift into the ambulatory cost segment, for which the assessment and management tools need to be developed. We conclude that, in 2000, osteoporosis continued to be a heavy burden on the Swiss healthcare system. Lack of awareness of the disease and its consequences prevents widespread use of drugs with anti-fracture efficacy. This limits their potential to reduce costs.
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PMID:Epidemiology and direct medical costs of osteoporotic fractures in men and women in Switzerland. 1537 32

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