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Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.
J Community Genet
January 2025
Graduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.
View Article and Find Full Text PDFDELTO Study: Delphi Consensus on Long-Term Textbook Outcome After Metabolic Bariatric Surgery.
Obes Surg
January 2025
Ziekenhuis Groep Twente, Almelo, Netherlands.
Background: This study aimed to create a comprehensive Core Outcome Set (COS) for assessing the long-term outcome (≥ 5 years) after Metabolic Bariatric Surgery (MBS), through the use of the Delphi method.
Methods: The study utilized a three-phase approach. In Phase 1, a long list of items was identified through a literature review and expert input, forming the basis for an online Delphi survey.
Screening of primary aldosteronism and pheochromocytoma among patients with hypertension: an Italian nationwide survey.
J Endocrinol Invest
January 2025
Division of Internal Medicine 4 and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.
Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.
Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.
Disentangling the neural underpinnings of response inhibition in disruptive behavior and co-occurring ADHD.
Eur Child Adolesc Psychiatry
January 2025
Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
While impaired response inhibition has been reported in attention-deficit/hyperactivity disorder (ADHD), findings in disruptive behavior disorders (DBDs) have been inconsistent, probably due to unaccounted effects of co-occurring ADHD in DBD. This study investigated the associations of behavioral and neural correlates of response inhibition with DBD and ADHD symptom severity, covarying for each other in a dimensional approach. Functional magnetic resonance imaging data were available for 35 children and adolescents with DBDs (8-18 years old, 19 males), and 31 age-matched unaffected controls (18 males) while performing a performance-adjusted stop-signal task.
View Article and Find Full Text PDFBRCA Mutation Testing in Men with Metastatic Castration-Resistant Prostate Cancer: Practical Guidance for Australian Clinical Practice.
Asia Pac J Clin Oncol
January 2025
LifeStrands Genomics Australia, Mount Waverley, Victoria, Australia.
Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC.
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