RESUMO
There are few well-validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PTEN hamartoma tumor syndrome (PHTS) and other neurodevelopmental genetic syndromes (NDGS). As potential therapeutics are developed, having reliable, valid, free, and easily accessible measures to track a range of neurobehavioral domains will be crucial for future clinical trials. This study focused on the development and initial psychometric evaluation of a set of freely available informant-report survey scales for PHTS-the Neurobehavioral Evaluation Tool (NET). Concept elicitation, quantitative ratings, and cognitive interviewing processes were conducted with stakeholders and clinician-scientist experts, used to identify the most important neurobehavioral domains for this population, and to ensure items were appropriate for the full range of individuals with PHTS. Results of this process identified a PHTS neurobehavioral impact model with 11 domains. The final NET scales assessing these domains were administered to a sample of 384 participants (median completion time = 20.6 min), including 32 people with PHTS, 141 with other NDGS, 47 with idiopathic neurodevelopmental disorder (NDD), and 164 neurotypical controls. Initial psychometric results for the total scores of each scale indicated very good model (ω = 0.83-0.99) and internal consistency reliability (α = 0.82-0.98) as well as excellent test-retest reproducibility at 1-month follow-up (r = 0.78-0.98) and stability at 4-month follow-up (r = 0.76-0.96). Conditional reliability estimates indicated very strong measurement precision in key score ranges for assessing PHTS and other people with NDGS and/or idiopathic NDD. Comparisons across domains between PHTS and the other groups revealed specific patterns of symptoms and functioning, including lower levels of challenging behavior and more developed daily living and executive functioning skills relative to other NDGS. The NET appears to be a reliable and potentially useful tool for clinical characterization and monitoring of neurobehavioral symptoms in PHTS and may also have utility in the assessment of other NDGS and idiopathic NDD. Additional validation work, including convergent and discriminant validity analyses, are needed to replicate and extend these observations.
Assuntos
Síndrome do Hamartoma Múltiplo , Humanos , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/patologia , Reprodutibilidade dos Testes , PTEN Fosfo-Hidrolase/genéticaRESUMO
Nasal asymmetry is widely acknowledged to be one of the most difficult deformities to manage. Most reports in the literature pertain to corrective methods in relation to isolated deformity of the dorsum in the posttraumatic patient. There is a paucity of literature relating to management of nasal radix asymmetry, and still less in the context of severe panfacial asymmetry.
RESUMO
Dentists seeking to pursue a career in oral and maxillofacial surgery may apply to medical school to achieve the dual qualification necessary to enter specialist training. While there is a plethora of online material relevant to medical school application, little is specific to the dental graduate. This paper outlines the current admissions process, including the application process, medical schools available, admissions tests and interviews. We discuss criteria helpful to dental graduates in this competitive process and financial support available to successful applicants.
Assuntos
Faculdades de Medicina , Cirurgia Bucal , Escolha da Profissão , Critérios de Admissão Escolar , Inquéritos e QuestionáriosRESUMO
We describe an interesting case of mercury within a lymph node, which we found during routine fine needle aspiration cytology of a neck lump. We know of no similar reports and look for any suggestions from our readers as to the cause of such a finding.