La enfermedad de Huntington en la Comunitat Valenciana / Huntington disease in the Valencian Region

Introducción: La enfermedad de Huntington (EH) es un trastorno raro neurodegenerativo caracterizado por movimientos coreicos involuntarios, trastornos conductuales y psiquiátricos, y demencia. Objetivo: Describir la distribución geográfica, etaria y por sexo de la EH en la Comunitat Valenciana (CV), y determinar su prevalencia y mortalidad. Materiales y métodos: Estudio transversal en el período 2010-2018. Se identificaron, a través del Sistema de Información de Enfermedades Raras de la CV, los casos confirmados de EH. Se describieron las características sociodemográficas, y se obtuvieron la prevalencia y la tasa de mortalidad.Resultados: Se identificaron 225 casos, un 50,2% mujeres. El 52% residía en la provincia de Alicante. Un 68,9% se verificó por su diagnóstico clínico. La mediana de edad en el momento del diagnóstico fue 54,1 años, 54,7 en los hombres y 53 en las mujeres. La prevalencia en 2018 fue de 1,97/100.000 habitantes –intervalo de confianza al 95% (IC 95%): 0,39-2,37–. El 49,8% falleció, un 51,8% hombres. La mediana de edad en el momento del fallecimiento fue de 62,7 años, y fue inferior en los hombres que en las mujeres. La tasa de mortalidad en 2018 fue de 0,32/100.000 habitantes (IC 95%: 0,32-2,28) y no se observaron diferencias estadísticamente significativas, ni en conjunto ni por sexos, durante el período de estudio. Conclusiones: La prevalencia obtenida estaba dentro del rango estimado por Orphanet (1-9/100.000). Se observó una diferencia por sexos en la edad de diagnóstico. Los hombres son el grupo de mayor mortalidad y de edad de fallecimiento más temprana. Es una enfermedad con alta mortalidad, con una media de 6,5 años entre el diagnóstico y el fallecimiento.(AU)

Introduction: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Objective: Describe the geographical, age and sex distribution of HD in the Valencia Region (VR) and determine its prevalence and mortality. Materials and methods: Cross-sectional study for the period 2010-2018. Confirmed cases of HD were identified through the Rare Disease Information System of the VR. Sociodemographic characteristics were described, and the prevalence and mortality rate were obtained. Results: 225 cases were identified, 50.2% women. 52.0% lived in the province of Alicante. 68.9% were verified by their clinical diagnosis. The median age at diagnosis was 54.1 years, 54.7 years in men and 53.0 years in women. The prevalence in 2018 was 1.97/100,000 inhabitants (95%; CI: 0.39-2.37), showing a no significant increasing trend, overall and by sex. 49.8% died, 51.8% men. The median age at death was 62.7 years, being lower in men than in women. The mortality rate in 2018 was 0.32/100,000 inhabitants (95%; CI: 0.32-2.28), with no statistically significant differences. Conclusions: The prevalence obtained was within the range estimated by Orphanet (1-9/100,000). A difference between sexes was observed in the diagnosis age. Men are the group with the highest mortality and the earliest age of death. It is a disease with high mortality with an average of 6.5 years between diagnosis and death.(AU)

[Congenital heart defects in the Valencian Community 2007-2014: The Population-Based Registry Of Congenital Anomalies]. / Anomalías congénitas cardíacas en la Comunitat Valenciana 2007-2014, el registro poblacional de anomalías congénitas.

INTRODUCTION: Congenital heart defects (CHDs) are the most prevalent and severe type of major congenital anomalies (CAs). The objective of this study was to determine the frequency and distribution of CHDs in the Valencian Region from 2007 to 2014, describing common characteristics of the patients and their mothers. MATERIAL AND METHODS: We retrieved data on CHDs in live births, stillbirths and cases of termination of pregnancy for fetal anomaly between 2007 and 2014 (codes Q20-Q26 in the 10th Revision of the International Classification of Diseases-British Paediatric Association, ICD10-BPA) from the population-based Registry of congenital anomalies of the Valencian Region. We calculated the prevalence per every 10,000 births of CHDs overall and by subtype, analysed temporal trends and the geographic distribution of cases, and documented the presence of associated noncardiac malformations. RESULTS: We identified 3,671 cases of CHD, corresponding to 38.6% of all CAs. The prevalence was 91.1/10,000 (IC 95%: 88.1-94.0) with a predominance of septal defects, chiefly atrial septal defect (48.5/10,000; IC 95%: 46.4-50.6) and ventricular septal defect (36.1/10,000; IC 95%: 34.3-38.0). We found the highest prevalence in the province of Castellon (137.8/10,000; IC 95%: 127.5-148.1). The sex distribution was 47.3% male and 44.3% female. Of all cases, 90.9% corresponded to live births and 65.6% were diagnosed at birth. The most frequent associated extracardiac malformations were musculoskeletal, and 19.2% of patients had syndromes. The most frequent maternal diseases were diabetes mellitus, hypothyroidism and urinary tract infections. CONCLUSIONS: The prevalence of CHD and atrial septal defects was higher compared to European data, while the prevalence of ventricular septal defects was similar. Musculoskeletal malformations were the noncardiac CAs most frequently associated with CHDs.

[Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region]. / Anomalías cromosómicas: la experiencia del Registro de Anomalías Congénitas de la Comunitat Valenciana.

OBJECTIVE: To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. METHODOLOGY: Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. RESULTS: A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. CONCLUSIONS: The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data.

Análisis descriptivo del cáncer oral en el municipio de pasto

Introducción: El propósito del presente estudio fue realizar un análisis descriptivo del cáncer oral en el Municipio de Pasto, el cual no había sido caracterizado, analizado y divulgado antes cuando la incidencia de cáncer oral a nivel mundial y nacional incrementa, igualmente la exposición a factores de riesgo. Método: Un estudio retrospectivo descriptivo basado en los 99 casos de cáncer oral reportados en el Registro Poblacional de Cáncer del Municipio de Pasto desde el año 1998 al 2002. La información seleccionada se dividió en dos grupos de variables, la primera correspondiente a los aspectos sociodemográficos y una segunda correspondiente a los aspectos diagnósticos. Resultados: Los 99 casos de cáncer oral tienen una tasa cruda (TC) de 7.82 casos por 100.000 habitantes y una tasa ajustada por edad (TAE) de 8.51 (IC 95%: 7.13-9.9). La incidencia específica o por género fue de 43 nuevos casos en hombres con una TC de 6.54 por 100.000 habitantes y una TAE de 8.02; en mujeres se presentaron 52 nuevos casos con una TC de 9.03 por 100.000 habitantes y una TAE de 8.99. Conclusión: el presente estudio mostró una incidencia del cáncer oral en hombres y mujeres bastante similar, mientras que las otras variables mostraron ser coherentes con los resultados de otros estudios a nivel mundial.

Introduction: The purpose of this study was to carry out a descriptive analysis of oral cancer in the municipality of Pasto. Such study has not been characterized, analyzed and spread before despite the fact that oral cancer incidence level increases worldwide and nationwide as well as the exposure to risk factors. Method: A retrospective study was done. It was based in 99 cases of reported oral cancer in the Cancer Population Registration in the Municipality of Pasto from 1998 to 2002. The selected information was divided in two variable groups. The first one belongs to the socio-demographic aspects and the second belongs to the diagnosis aspects. Results: The 99 cases of oral cancer have a crude rate (CR) of 7.82 cases per 100.000 inhabitants and an age-adjusted rate (AAR) of 8.51(CI 95%: 7.13-9.9). The specific incidence or by genre was of 43 new cases in men with a CR of 6.54 per 100.000 inhabitants and an AAR of 8.02; while 52 new cases with a CR of 9.03 per 100.000 inhabitants and an AAR of 8.99 were presented in women. Conclusion: The present study showed a similar oral cancer incidence in men and women, while other variables showed the coherence with results of worldwide level studies.