Implantación de un programa de cribado bioquímico y genético de hipercolesterolemia familiar. Colaboración entre el laboratorio clínico y las unidades de lípidos: diseño del Proyecto ARIAN / Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project

Introducción y objetivo: La hipercolesterolemia familiar (HF) es el trastorno genético más frecuente asociado con enfermedad coronaria prematura debido a la presencia de cLDL incrementado desde el nacimiento. Se encuentra infradiagnosticada e infratratada. El objetivo primario del proyecto ARIAN es determinar el número de pacientes diagnosticados de HF tras implantar un nuevo procedimiento de cribado desde el laboratorio. Material y métodos: Este proyecto se ha diseñado como un análisis retrospectivo mediante consulta al sistema informático. Se seleccionaron de las bases de datos de laboratorio aquellas muestras de suero de pacientes ≥ 18 años con cLDL directos o calculados > 250 mg/dl, desde el 1 de enero del 2017 hasta el 31 de diciembre del 2018. Una vez descartadas causas secundarias, se comunicó al médico de Atención Primaria solicitante la sospecha de que su paciente pudiera portar una HF y gestionar una cita prioritaria en la unidad de Lípidos. Todos aquellos pacientes con una puntuación ≥ 6 puntos de los criterios de las Clínicas holandesas se les propuso un estudio genético. Resultados: El protocolo se presentó a 55 laboratorios de forma individualizada. Hasta el día 30 de diciembre del 2020, el número centros que han remitido resultados es de 24. El número de muestras analizadas hasta ese momento fue de 3.266.341, lo que representa un 34% de la población atendida en esas áreas de salud (9.727.434). Conclusiones: La identificación de nuevos sujetos con HF mediante esta nueva estrategia desde el laboratorio y su remisión a las unidades de Lípidos debe incrementar el número de pacientes tratados en las unidades de Lípidos y permitir iniciar cribados en cascada familiar.(AU)

Introduction and objective: Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory. Material and methods: This project was designed as a retrospective analysis by consulting the computer system. We selected from databases serum samples from patients ≥ 18 years with direct or calculated LDL-C>250mg/dL from 1 January 2017 to 31 December 2018. Once secondary causes had been ruled out, the requesting primary care physician was notified that their patient might have FH and to arrange a priority appointment in the lipid unit. All patients with a score of ≥ 6 points according to the Dutch Lipid Clinic Criteria were proposed for a genetic study. Results: By December 30th, 2020, 24 centres out of the initial 55 had submitted results. The number of patients analysed up to that point was 3,266,341, which represents 34% of the population served in those health areas (9,727,434). Conclusions: The identification of new subjects with FH through this new strategy from the laboratory and their referral to lipid units should increase the number of patients treated in lipid units and initiate familial cascade screening.(AU)

Implantation of a biochemical and genetic screening programme for family hypercholesterolaemia. Collaboration between the clinical laboratory and lipid units: Design of the ARIAN Project. / Implantación de un programa de cribado bioquímico y genético de hipercolesterolemia familiar. Colaboración entre el laboratorio clínico y las unidades de lípidos: diseño del Proyecto ARIAN.

INTRODUCTION AND OBJECTIVE: Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory. MATERIAL AND METHODS: This project was designed as a retrospective analysis by consulting the computer system. We selected from databases serum samples from patients ≥ 18 years with direct or calculated LDL-C>250mg/dL from 1 January 2017 to 31 December 2018. Once secondary causes had been ruled out, the requesting primary care physician was notified that their patient might have FH and to arrange a priority appointment in the lipid unit. All patients with a score of ≥ 6 points according to the Dutch Lipid Clinic Criteria were proposed for a genetic study RESULTS: By December 30th, 2020, 24 centres out of the initial 55 had submitted results. The number of patients analysed up to that point was 3,266,341, which represents 34% of the population served in those health areas (9,727,434). CONCLUSIONS: The identification of new subjects with FH through this new strategy from the laboratory and their referral to lipid units should increase the number of patients treated in lipid units and initiate familial cascade screening.

[Participation of the immigrant population in breast cancer screening in Tarragona, Spain]. / Participación de la población inmigrante en el cribado de cáncer de mama de Tarragona, España.

OBJECTIVE: To evaluate the differences between autochthonous and allochthonous women's participation in a breast cancer screening programme. METHOD: Retrospective study based on data from the Breast Cancer Screening Programme of the province of Tarragona (2008-2015). The sample is the target population of the programme with known country of origin. RESULTS: Cohort of 40,824 women. Allochthonous women participate less than autochthonous women (41.8% vs. 72.3%) although they have a similar global detection rate to the latter but with differences according to the human development index of their country of origin. Both groups present similar tumour stages on detection (p=.59). CONCLUSIONS: Strategies specifically aimed at the immigrant population are required to improve their participation in breast cancer screening.

Comparative study of RetCamRetCam II vs. binocular ophthalmoscopy in a screening program for retinopathy of prematurity.

OBJECTIVE: To determine the performance of RetCam vs. binocular ophthalmoscopy (BIO) in a screening program for retinopathy of prematurity (ROP). METHODS: Observational comparative study with prospective data collection. Examinations with RetCam (n=169) were performed on 83 infants included in a screening program for ROP and stored for analysis at a later stage. An experienced ophthalmologist examined the ocular fundus with binocular indirect ophthalmoscopy (BIO). The RetCam images were assessed for the presence of ROP, zone, grade, and presence of plus disease. RetCam and BIO data were compared by visually to estimate sensitivity, specificity, positive (VPP) and negative (VPN) predictive values. RESULTS: ROP disease was detected in 108 eyes with BIO, and in 74 with RetCam. Out of 306 eyes examined with RetCam, false negative results were found in 34 eyes, with no false positives. Sensitivity of RetCam exam vs. BIO was 0.68, and specificity was 0.99. Positive predictive value was 0.93 and negative predictive value was 0.85. All 34 ROP cases not detected with RetCam were in zone III or outer zone II. They were all mild and regressed spontaneously. No threshold ROP was missed with RetCam. CONCLUSION: Binocular indirect ophthalmoscopy is the reference method for the diagnosis of ROP. RetCam may be used as an alternative for ROP screening.

[Cost-benefit analysis of a population-based cervical cancer screening program designed for Cantabria]. / Análisis coste-beneficio de un programa poblacional de diagnóstico precoz de cáncer de cuello uterino diseñado para Cantabria.

INTRODUCTION: Cervical cancer is the second most common cancer worldwide in women, with an annual mortality of 3.6 per 100.000 women in Spain. An opportunistic screening protocol is currently being developed in Cantabria. The objective of the study is to propose a population-based screening program in Cantabria and assess its cost-benefits. PATIENTS AND METHODS: The population-based program design has been carried out according to the description of the natural course of cervical cancer and its incidence and mortality in Cantabria during 2000-2009. There have been some proposals to increase participation in the program and to evaluate its quality. Costs and benefits (direct and indirect) have been analyzed in several scenarios by modifying the frequency of tests (3-5 years), the age at which the program can be accessed (21, 25 or 30 years), the coverage of the program (60-80%), and discount rates (0-3-6%). RESULTS: A program carried out with coverage of 80% and tests performed every 3 years generates annual costs of €893.000 (discount rate of 3%) compared to the current opportunistic protocol. Scenarios with tests performed every 5 years generate an annual benefit higher than €618.000, depending on the age of accessing the program. CONCLUSIONS: Scenarios with coverage lower than 60% or with women over 30 years old having access to the program are not of interest because of the lower health benefits. However, performing tests every 5 years is more economically advantageous than every 3 years, with similar health benefits.

[Proportion of breast cancer in women aged 50 to 69 years from Girona, Spain, according to detection method]. / Proporción de cáncer de mama en mujeres de 50 a 69 años de Girona según el método de detección.

BACKGROUND AND OBJECTIVE: The aim of this study was to determine the tumor stage, the proportion of cases and the age specific rate of breast cancer (BC) cases according to detection method. MATERIAL AND METHOD: Cases of women aged 50 to 69 years diagnosed with BC in the Girona province during 1999-2006 were extracted from the population-based Girona Cancer Registry (n=1,254). BC was classified by detection method: screen-detected cancer, interval cancer and others. Proportion of cases and age-specific incidence were calculated according to detection method. RESULTS: During the period 2002-2006, the proportion of screen-detected cancers, interval cancers and other cancers were 42.2%, 5.8% and 52.2%, respectively. After implementation of the early detection of breast cancer program (PDPCM), the incidence of screen-detected cases raised; thereafter, interval cancers also increased and the rate of other cancers decreased. CONCLUSIONS: In the Girona province during the fully implemented PDPCM period (2002-2006), interval cancers represented a low proportion (5.8%) of women diagnosed with BC at 50 to 69 years old.

Evaluación de la audición con potenciales evocados estado-estable a múltiples frecuencias en niños de riesgo / Hearing assessment with Multiple Auditory Stead State Responses in young children at risk

Se evaluaron los Potenciales Evocados Auditivos estado-estable a Múltiples Frecuencias en la caracterización de la audición en niños de riesgo y se determinaron los factores de riesgo prenatales, perinatales y postnatales del neonato, asociados con las pérdidas auditivas sensorineurales. Se utilizó el método de estudio retrospectivo en el contexto del programa de cribado auditivo en niños de alto riesgo, Matanzas (2000–2005). Se exploró el umbral auditivo específico por frecuencias en 308 niños (tres a 24 meses de edad), con PEAee MF (0,5; 1; 2 y 4 kHz), y con Potenciales Evocados Auditivos de Tallo Cerebral (PEATC) a clic. Los resultados (PEAee MF/PEATC) fueron comparados en 220 niños (440 oídos). Se estudió la asociación de factores de riesgo independientes con las pérdidas auditivas sensorineurales. Se obtuvieron los coeficientes de correlación (PEAee MF/PEATC) resultando significativos para todas las frecuencias (p = ,01). Los PEAee MF estimaron el umbral auditivo a una o más frecuencias, aún cuando los PEATC estuvieran ausentes a la máxima intensidad permitida (85 dB nHL). Factores de riesgo independientes en las pérdidas auditivas sensorineurales, fueron: ventilación mecánica, trastornos neurológicos, cuidados intensivos neonatales e historia familiar de pérdida auditiva. Los PEAee MF permitieron caracterizar los umbrales auditivos normales y en las pérdidas auditivas de ligeras a moderadas, mostrando una ventaja evidente sobre los PEATC a clic en las pérdidas auditivas de severas a profundas y el estudio de los factores de riesgo en las pérdidas auditivas sensorineurales, contribuye a la evaluación clínica integral del niño deficiente auditivo(AU)

We assessed Multiple Auditory Steady State Response (MSSR) in the characterization of hearing in high-risk children and identified risk factors prenatal, perinatal and postnatal (of the newborn), associated with sensorineural hearing loss. We used the retrospective method in the context of the hearing screening in high-risk children, Matanzas (2000-2005). We explored the frequency-specific thresholds from MSSR (0.5, 1, 2 and 4 kHz) and click-evoked Auditory Brainstem Responses (ABR) in 308 children (three to 24 months old); the threshold estimates from MSSR tests were compared to those of click-evoked ABR in 220 children (440 ears). The association of independent risk factors for sensorineural hearing loss was calculated. We obtained correlation coefficients (MSSR/ABR) being significant for all frequencies (p = .01). The MSSR estimated the threshold of hearing to one or more frequencies, even when the ABR were absent at the maximum allowable intensity (85 dB nHL). Independent risk factors for sensorineural hearing loss were: mechanical ventilation, neurological disorders, neonatal intensive care, and family history of hearing loss. MSSR allowed characterize the hearing thresholds in normal hearing and hearing loss from mild to moderate, showing an obvious advantage over the click-evoked ABR on severe to profound hearing loss and the study of the risk factors in sensorineural hearing loss contributes to the comprehensive clinical evaluation of hearing-impaired child(AU)