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1.
Urology ; 93: 135-40, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27045711

RESUMO

OBJECTIVE: To measure prostate needle biopsy (PNB)-associated complications and place of treatment: inpatient hospitalization and outpatient treatment. An electronic medical record (EMR) data query is compared to a patient questionnaire survey. MATERIALS AND METHODS: A total of 2410 patients underwent 2588 biopsies and were evaluated for PNB-associated complications. Two approaches were used: (1) EMR analysis based on International Classification of Diseases, Ninth Revision, and Current Procedural Terminology coding and chart review; and (2) patient-reported questionnaire and chart review validation. Serious complications were defined as any complication leading to a related hospitalization, visit to the emergency department (ED), urgent care (UC), or doctor's office within 30 days of the biopsy. RESULTS: The EMR study revealed 69 (2.67%) serious complications leading to either hospitalization or treatment at an ED, UC, or doctor's office. Thirty serious complications led to hospitalization (1.16%), 14 patients (0.54%) were treated at the ED, 1 was managed at a UC (0.04%), and 24 (0.93%) were treated at the doctor's office. Of the 847 (35.1%) questionnaires considered appropriate for analysis, 36 (4.25%) reported treatment in either the hospital, ED, UC, or doctor's office. Nine patients (1.06%) reported being hospitalized within 30 days of the procedure, whereas 27 patients (3.19%) were treated in an outpatient setting, 8 (0.94%) at the ED, 3 (0.35%) at a UC, and 16 (1.89%) at the doctor's office. CONCLUSION: Our dual analysis study indicates a slightly greater than 1% incidence of hospitalization due to serious complications following PNB. Serious complications appear to be more frequently managed outside the hospital setting (ED, UC, and doctor's office).


Assuntos
Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/terapia , Próstata/patologia , Idoso , Assistência Ambulatorial , Biópsia por Agulha/efeitos adversos , Autoavaliação Diagnóstica , Hospitalização , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos
3.
Genetics ; 190(4): 1309-23, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22267502

RESUMO

Cystathionine-ß-synthase (CBS) deficiency is a human genetic disease causing homocystinuria, thrombosis, mental retardation, and a suite of other devastating manifestations. Early detection coupled with dietary modification greatly reduces pathology, but the response to treatment differs with the allele of CBS. A better understanding of the relationship between allelic variants and protein function will improve both diagnosis and treatment. To this end, we tested the function of 84 CBS alleles previously sequenced from patients with homocystinuria by ortholog replacement in Saccharomyces cerevisiae. Within this clinically associated set, 15% of variant alleles were indistinguishable from the predominant CBS allele in function, suggesting enzymatic activity was retained. An additional 37% of the alleles were partially functional or could be rescued by cofactor supplementation in the growth medium. This large class included alleles rescued by elevated levels of the cofactor vitamin B6, but also alleles rescued by elevated heme, a second CBS cofactor. Measurement of the metabolite levels in CBS-substituted yeast grown with different B6 levels using LC-MS revealed changes in metabolism that propagated beyond the substrate and product of CBS. Production of the critical antioxidant glutathione through the CBS pathway was greatly decreased when CBS function was restricted through genetic, cofactor, or substrate restriction, a metabolic consequence with implications for treatment.


Assuntos
Alelos , Cistationina beta-Sintase/metabolismo , Metaboloma , Cromatografia Líquida/métodos , Coenzimas/metabolismo , Meios de Cultura/metabolismo , Cistationina beta-Sintase/genética , Ativação Enzimática , Teste de Complementação Genética , Genoma Humano , Glutationa/metabolismo , Heme/metabolismo , Homocistinúria/genética , Humanos , Immunoblotting , Mutação , Fenótipo , Plasmídeos/genética , Saccharomyces cerevisiae/efeitos dos fármacos , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crescimento & desenvolvimento , Vitamina B 6/metabolismo , Vitamina B 6/farmacologia
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