Criterios de derivación a genética clínica desde Atención Primaria. Documento de consenso / Referral criteria to clinical genetics from primary care: Consensus document

Introducción: La Atención Primaria (AP) es el primer contacto entre el paciente y el médico, por lo que es fundamental tener claro los criterios de sospecha de una enfermedad genética y dónde se debe remitir para su estudio. Material y métodos: Cuatro sociedades científicas: la Sociedad Española de Medicina Familiar y Comunitaria (semFYC), la Asociación Española de Genética Humana (AEGH), la Asociación Española de Pediatría (AEP) y la Sociedad Española de Oncología Médica (SEOM), han revisado los criterios de derivación a los servicios de genética clínica de las diferentes guías publicadas, con el objetivo de elaborar unas recomendaciones para AP. Conclusiones: Con este Documento de Consenso el médico de familia y el pediatra de AP conocerán cuándo, cómo y dónde derivar a sus pacientes con patología hereditaria y/o genética a los servicios de genética clínica.(AU)

Introduction: Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study. Material and methods: Four scientific societies: the Spanish Society of Family and Community Medicine (semFYC), the Spanish Association of Human Genetics (AEGH), the Spanish Association of Pediatrics (AEP) and the Spanish Society of Medical Oncology (SEOM), have reviewed the criteria for referral to the clinical genetics services of the different published guidelines with the purpose of define the recommendations for PC. Conclusions: With this consensus document, the PC doctor and pediatrician will know when, how and where to refer their patients with hereditary and/or genetic pathology to clinical genetics services.(AU)

[Referral criteria to clinical genetics from primary care: Consensus document]. / Criterios de derivación a genética clínica desde Atención Primaria. Documento de consenso.

INTRODUCTION: Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study. MATERIAL AND METHODS: Four scientific societies: the Spanish Society of Family and Community Medicine (semFYC), the Spanish Association of Human Genetics (AEGH), the Spanish Association of Pediatrics (AEP) and the Spanish Society of Medical Oncology (SEOM), have reviewed the criteria for referral to the clinical genetics services of the different published guidelines with the purpose of define the recommendations for PC. CONCLUSIONS: With this consensus document, the PC doctor and pediatrician will know when, how and where to refer their patients with hereditary and/or genetic pathology to clinical genetics services.

Páginas web sobre genética clínica para atención primaria / Websites on clinical genetics for primary care

No disponible

Hipervitaminosis B12 y cáncer de recto / B12 hypervitaminosis and rectum cancer

Niveles elevados de vitamina B12 pueden ser relacionados con un alto riesgo de desarrollo de cáncer debido a una alteración de la integridad del ADN, como consecuencia del metabolismo anómalo de la cobalamina. Esto es importante para tener en cuenta la vitamina B12 como marcador tumoral inespecífico en el desarrollo de neoplasias sólidas, una vez descartadas otras patologías serias como enfermedades hematológicas, hepáticas y renales. Se presenta el caso de un paciente con hipervitaminosis B12 y cáncer de recto (AU)

High extreme values of B12 vitamin could be linked with high risk cáncer development throughout the DNA integrity distress because a cobalamine disfunctional metabolism. It's vital to understand the role of B12 vitamin as inespecific tumoral marker in the development of solid neoplasm when other many serious diseases as blood, liver and kidney diseases are rejected. We report a patient case about B12 hypervitaminosis and rectum cáncer (AU)