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1.
Clin Genet ; 97(4): 601-609, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32022897

RESUMO

Although multigene panel testing (MGPT) is increasingly utilized in clinical practice, there remain limited data on patient-reported outcomes. BRCA 1/2 negative patients were contacted and offered MGPT. Patients completed pre- and posttest counseling, and surveys assessing cognitive, affective and behavioral outcomes at baseline, postdisclosure and 6 and 12 months. Of 317 eligible BRCA1/2 negative patients who discussed the study with research staff, 249 (79%) enrolled. Decliners were more likely to be older, non-White, and recruited by mail or email. Ninety-five percent of enrolled patients proceeded with MGPT. There were no significant changes in anxiety, depression, cancer specific distress or uncertainty postdisclosure. There were significant but small increases in knowledge, cancer-specific distress and depression at 6-12 months. Uncertainty declined over time. Those with a VUS had significant decreases in uncertainty but also small increases in cancer specific distress at 6 and 12 months. Among those with a positive result, medical management recommendations changed in 26% of cases and 2.6% of all tested. Most BRCA1/2 negative patients have favorable psychosocial outcomes after receipt of MGPT results, although small increases in depression and cancer-specific worry may exist and may vary by result. Medical management changed in few patients.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposição Genética para Doença , Neoplasias/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Feminino , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Neoplasias/patologia , Fatores de Risco
2.
J Foot Ankle Surg ; 59(6): 1244-1247, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32950369

RESUMO

Evaluation of the sagittal plane motion of the first ray is a commonly accepted physical examination technique performed during the assessment and treatment of the hallux valgus deformity. Excessive or abnormal motion in this location, termed "hypermobility," has also traditionally been strongly associated with surgical decision-making and serves as a widely accepted indication for performance of the first metatarsal-medial cuneiform arthrodesis procedure. The objective of this investigation was to perform an analysis of first ray sagittal plane motion from a large population in order to determine the descriptive quantitative characteristics of the data set. First metatarsal sagittal plane motion was measured from a group of 149 subjects (298 feet) with a Klaue device. The mean total first metatarsal sagittal plane motion was 9.37 ± 2.39 mm (3.97-18.76). The data set was found to demonstrate many of the characteristics of a normally distributed population based on the histogram distribution, skewness (0.651), and kurtosis (0.761). No difference was observed between measurement of total sagittal plane motion between right and left feet (9.13 ± 2.37 mm vs 9.61 ± 2.40 mm; p = .081), nor between male and female subjects (9.29 ± 2.27 mm vs 9.58 ± 2.70 mm; p = .352). No substantial correlation was observed between total sagittal plane motion and subject age (Pearson correlation -0.053; p = .522). Results indicate that first ray sagittal plane motion might be best considered as a continuous variable as opposed to categorical variable, and might help objectify the difference between "normal" and "abnormal" motion.


Assuntos
Hallux Valgus , Hallux , Ossos do Metatarso , Articulação Metatarsofalângica , Feminino , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/cirurgia , Humanos , Masculino , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgia , Amplitude de Movimento Articular
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