RESUMO
A Family History of Hypercholesterolemia - the Role of Genetics Abstract. Genetic testing is rarely used in Switzerland to confirm the clinical diagnosis of familial hypercholesterolemia. However, cascade genetic testing from an index case is recommended by the guidelines. By describing a patient and his family with severe hypercholesterolemia, we discuss the benefits, risks and barriers regarding the implementation of genetics for familial hypercholesterolemia. Family screening with genetic testing could become a standard of care for severe hypercholesterolemia.
Résumé. La génétique est encore peu utilisée en Suisse pour confirmer le diagnostic clinique d'une hypercholestérolémie familiale. Pourtant le dépistage génétique familial en cascade à partir d'un cas index est recommandé par les experts. En décrivant un patient et sa famille avec une hypercholestérolémie sévère, nous discutons les bénéfices, les risques et les barrières à l'implémentation du test la génétique pour l'hypercholestérolémie familiale. Le dépistage familial à l'aide du test génétique pourrait devenir un standard de soin pour l'hypercholestérolémie sévère.
Assuntos
Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Humanos , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/genética , LDL-Colesterol , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Testes Genéticos , SuíçaRESUMO
In patients aged 65 or older, the risk of dementia decreases with cataract surgery. Mental stress doubles the risk of a cardiac event in patients with stable coronary artery disease. The one-legged stance performance estimates total mortality in patients 50 years or older. Patients with chronic pain benefit from treatment with dronabinol or nabiximols. Salt substitutes are an alternative to regular salt in hypertensive patients aged 60 years or more. The promotion of physical activity in the office is effective in reducing sedentary behavior. Music has a favorable impact on the mental dimensions of quality of life. Colonoscopies performed on patients aged 75 years or more have a higher risk of non-gastrointestinal complications than gastrointestinal complications.
Chez les patients de 65 ans ou plus, le risque de démence diminue après une chirurgie de la cataracte. Le stress mental double le risque d'événements cardiaques chez des patients avec une coronaropathie stable. La station monopodale effectuée au cabinet permet d'estimer la mortalité totale chez les patients de 50 ans ou plus. Ceux souffrant de douleurs chroniques bénéficient d'un traitement par dronabinol ou nabiximols. Les substituts de sel sont une alternative au sel ordinaire chez les hypertendus de 60 ans ou plus. La promotion de l'activité physique au cabinet est efficace dans la diminution de la sédentarité. La musique a un impact favorable sur les dimensions mentales de la qualité de vie. Les coloscopies effectuées chez les patients de 75 ans ou plus présentent un risque supérieur de complications non gastro-intestinales comparativement à celles gastro-intestinales.
Assuntos
Dor Crônica , Hipertensão , Humanos , Qualidade de Vida , Exercício Físico , Medicina InternaRESUMO
BACKGROUND/AIMS: Controversies still exist regarding the evaluation of growth hormone deficiency (GHD) in childhood at the end of growth. The aim of this study was to describe the natural history of GHD in a pediatric cohort. METHODS: This is a retrospective study of a cohort of pediatric patients with GHD. Cases of acquired GHD were excluded. Univariate logistic regression was used to identify predictors of GHD persisting into adulthood. RESULTS: Among 63 identified patients, 47 (75%) had partial GHD at diagnosis, while 16 (25%) had complete GHD, including 5 with multiple pituitary hormone deficiencies. At final height, 50 patients underwent repeat stimulation testing; 28 (56%) recovered and 22 (44%) remained growth hormone (GH) deficient. Predictors of persisting GHD were: complete GHD at diagnosis (OR 10.1, 95% CI 2.4-42.1), pituitary stalk defect or ectopic pituitary gland on magnetic resonance imaging (OR 6.5, 95% CI 1.1-37.1), greater height gain during GH treatment (OR 1.8, 95% CI 1.0-3.3), and IGF-1 level <-2 standard deviation scores (SDS) following treatment cessation (OR 19.3, 95% CI 3.6-103.1). In the multivariate analysis, only IGF-1 level <-2 SDS (OR 13.3, 95% CI 2.3-77.3) and complete GHD (OR 6.3, 95% CI 1.2-32.8) were associated with the outcome. CONCLUSION: At final height, 56% of adolescents with GHD had recovered. Complete GHD at diagnosis, low IGF-1 levels following retesting, and pituitary malformation were strong predictors of persistence of GHD.