RESUMEN
OBJECTIVES: Incidence of type 1 diabetes mellitus raises a number of controversies. Our study aim was to contribute to answer the following questions: Is incidence of T1DM increasing? Is age at onset of type 1 diabetes mellitus decreasing? Which are the sex differences? Which are the characteristics in adults? METHODS: A cross-sectional descriptive study using data from a primary source and 3 secondary sources from Navarre collected between 01/01/2009 and 12/31/2016. Annual incidence rates and incidence rate expressed as 100,000 person-years were estimated in the study period by age and sex group. The comparison of the sex and age incidence was made estimating the incidence rate using Poisson's regression methods. The completeness of the register was 96.08%. RESULTS: During the 8 years analyzed, 428 new cases of type 1 diabetes mellitus were reported (incidence: 8.4/100,000 person-years, 95% CI: 7.6-9.2). Incidence has remained stable and is higher in the group under 15 years old (21.5) than in adults (5.9). Males aged 10-14 years and females aged 5-9 years were the groups with the highest incidence. Incidence then decreased with increasing age. Type 1 diabetes mellitus predominates in males aged 10-45 years, and no changes were seen in age at onset when analized by four-year periods. CONCLUSION: Navarre shows a very high incidence of type 1 diabetes mellitus in childhood and a low incidence in adulthood. Peak incidence is seen earlier in girls, but the disease predominates in males. Neither incidence nor age at onset have changed.
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Diabetes Mellitus Tipo 1/epidemiología , Adolescente , Adulto , Distribución por Edad , Edad de Inicio , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Morbilidad/tendencias , Estudios Retrospectivos , Distribución por Sexo , España/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Nowadays, 65-80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one of 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs) and none include somatic testing. We aimed to genetically characterise S-PPGL cases and propose an evidence-based algorithm for genetic testing, prioritising DNA source. METHODS: The study included 329 probands fitting three criteria: single PPGL, no syndromic and no PPGL family history. Germline DNA was tested for point mutations in RET and for both point mutation and gross deletions in VHL, the SDH genes, TMEM127, MAX and FH. 99 tumours from patients negative for germline screening were available and tested for RET, VHL, HRAS, EPAS1, MAX and SDHB. RESULTS: Germline mutations were found in 46 (14.0%) patients, being more prevalent in paragangliomas (PGLs) (28.7%) than in pheochromocytomas (PCCs) (4.5%) (p=6.62×10(-10)). Somatic mutations were found in 43% of those tested, being more prevalent in PCCs (48.5%) than in PGLs (32.3%) (p=0.13). A quarter of S-PPGLs had a somatic mutation, regardless of age at presentation. Head and neck PGLs (HN-PGLs) and thoracic-PGLs (T-PGLs) more commonly had germline mutations (p=2.0×10(-4) and p=0.027, respectively). Five of the 29 metastatic cases harboured a somatic mutation, one in HRAS. CONCLUSIONS: We recommend prioritising testing for germline mutations in patients with HN-PGLs and T-PGLs, and for somatic mutations in those with PCC. Biochemical secretion and SDHB-immunohistochemistry should guide genetic screening in abdominal-PGLs. Paediatric and metastatic cases should not be excluded from somatic screening.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/genética , Pruebas Genéticas , Mutación de Línea Germinal , Neoplasias de Cabeza y Cuello/genética , Paraganglioma/genética , Feocromocitoma/genética , Neoplasias Torácicas/genética , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Niño , Práctica Clínica Basada en la Evidencia , Femenino , Predisposición Genética a la Enfermedad , Neoplasias de Cabeza y Cuello/diagnóstico , Humanos , Masculino , Mutación , Paraganglioma/diagnóstico , Feocromocitoma/diagnóstico , Neoplasias Torácicas/diagnósticoRESUMEN
Introduction. Navarra has the highest incidence of differentiated thyroid cancer in Spain. The aim of this study was to review its management carried out by the Navarra's multidisciplinary Thyroid Disease Unit, from 1987 to 2003. Material and Methods. 325 patients were studied to find the incidence, prevalence, and prognostic factors. Statistical analysis comprised univariate and multivariate Cox proportional hazards regression models for survival and tumor recurrence. Results. The average annual incidence was 3.6 per 100,000 inhabitants, with a final prevalence of 82.4 per 100,000. Regarding survival and recurrence, statistical significance was observed for stage IV, follicular carcinoma, capsular and prethyroid muscles invasion, and T4 group. Only survival was related to tumour size larger than 40 mm. Only recurrence was related to lymph node metastases and radioiodine dose higher than 100 mCi. Conclusions. Attendance of patients in a functional unit setting has allowed us to classify them into three risk groups.