Oesophageal Atresia: Prevalence in the Valencian Region (Spain) and Associated Anomalies.

The objective was to determine the prevalence of oesophageal atresia (OA) and describe the characteristics of OA cases diagnosed before the first year of life, born between 2007 and 2019, and residents in the Valencian Region (VR), Spain. Live births (LB), stillbirths (SB), and termination of pregnancy for fetal anomaly (TOPFA) diagnosed with OA were selected from the Congenital Anomalies population-based Registry of VR (RPAC-CV). The prevalence of OA per 10,000 births with 95% confidence interval was calculated, and socio-demographic and clinical variables were analyzed. A total of 146 OA cases were identified. The overall prevalence was 2.4/10,000 births, and prevalence by type of pregnancy ending was 2.3 in LB and 0.03 in both SB and TOPFA. A mortality rate of 0.03/1000 LB was observed. A relationship was found between case mortality and birth weight (p-value < 0.05). OA was primarily diagnosed at birth (58.2%) and 71.2% of the cases were associated with another congenital anomaly, mainly congenital heart defects. Significant variations in the prevalence of OA in the VR were detected throughout the study period. In conclusion, a lower prevalence in SB and TOPFA was identified compared to EUROCAT data. As several studies have identified, an association between OA cases and birth weight was found.

[Diagnostic delay in rare diseases: between fear and resilience]. / Demora diagnóstica en enfermedades raras: entre el miedo y la resiliencia.

OBJECTIVE: To describe the impact of diagnosis delay in rare diseases and analyze psychosocial needs related to this delay in patients. METHOD: The qualitative approach has been used by conducting online group interviews with patients and family members in the Valencian Region (Spain) and a content analysis has been carried out. Two categories were differentiated: with diagnostic delay of 1 year or more and without diagnostic delay. Five interviews were conducted with a total of 25 participants. RESULTS: The content analysis showed unequal aspects vs. common aspects, in persons with or without diagnostic delay. People with delay expressed the need to feel supported in order to live with continuous uncertainty. People without delay verbalized the importance of adequate communication between patients and professionals. The problems by the COVID-19 were common in both groups; the participants expressed that they did not feel unattended in their disease by the health services. CONCLUSIONS: High resilience and coping capacity has been identified in people with rare disease, regardless of whether they have suffered diagnostic delay or not. The professional psychosocial support during the diagnostic process of these rare diseases is essential.

Demora diagnóstica en enfermedades raras: entre el miedo y la resiliencia / Diagnostic delay in rare diseases: between fear and resilience

Objetivo: Describir el impacto de la demora diagnóstica de enfermedades raras y analizar las necesidades psicosociales de las personas afectadas en relación con dicha demora. Método: Se ha empleado el enfoque cualitativo mediante la realización de entrevistas grupales online a pacientes y familiares en la Comunitat Valenciana (España) y se ha efectuado un análisis de contenido. Se diferenciaron dos categorías: con demora diagnóstica de 1 año o más y sin demora diagnóstica. Se realizaron cinco entrevistas en las que participaron un total de 25 personas. Resultados: El análisis mostró aspectos desiguales frente a aspectos comunes, en personas con o sin demora diagnóstica. Las personas con demora manifestaron la necesidad de sentirse «sostenidas» para convivir con una incertidumbre continua. Las personas sin demora verbalizaron la importancia de una adecuada comunicación entre pacientes y profesionales. Los problemas surgidos por la COVID-19 fueron comunes en ambos grupos, y las personas participantes expresaron no sentirse desatendidas en su enfermedad por los servicios sanitarios durante la pandemia. Conclusiones: Se ha observado una gran capacidad de resiliencia y afrontamiento en las personas con enfermedades raras, independientemente de si han sufrido demora diagnóstica o no. El apoyo psicosocial profesionalizado durante el proceso de diagnóstico de estas enfermedades minoritarias es esencial. (AU)

Objective: To describe the impact of diagnosis delay in rare diseases and analyze psychosocial needs related to this delay in patients. Method: The qualitative approach has been used by conducting online group interviews with patients and family members in the Valencian Region (Spain) and a content analysis has been carried out. Two categories were differentiated: with diagnostic delay of 1 year or more and without diagnostic delay. Five interviews were conducted with a total of 25 participants. Results: The content analysis showed unequal aspects vs. common aspects, in persons with or without diagnostic delay. People with delay expressed the need to feel supported in order to live with continuous uncertainty. People without delay verbalized the importance of adequate communication between patients and professionals. The problems by the COVID-19 were common in both groups; the participants expressed that they did not feel unattended in their disease by the health services. Conclusions: High resilience and coping capacity has been identified in people with rare disease, regardless of whether they have suffered diagnostic delay or not. The professional psychosocial support during the diagnostic process of these rare diseases is essential. (AU)

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain.

Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study.

BACKGROUND: Limited research evidence exists on the development of web-based platforms for reciprocal communication, coproduction research, and dissemination of information among parents, professionals, and researchers. This paper provides learning and the outcomes of setting up a bespoke web-based platform using social media. OBJECTIVE: This study aims to explore the establishment of a web-based, multicontextual research communication platform for parents and stakeholders of children with congenital anomalies using social media and to identify associated research and ethical and technical challenges. METHODS: The ConnectEpeople e-forum was developed using social media platforms with a stakeholder engagement process. A multilevel approach was implemented for reciprocal engagement between parents of children with congenital anomalies, researchers, health care professionals, and other stakeholders using private and invisible and public Facebook groups, closed Twitter groups, and YouTube. Ethical approval was obtained from Ulster University. RESULTS: Nonprofit organizations (N=128) were invited to engage with an initial response rate of 16.4% (21/128). Of the 105 parents contacted, 32 entered the private and invisible Facebook groups to participate in the coproduction research. Public Facebook page followers rose to 215, a total of 22 posts had an engagement of >10%, and 34 posts had a reach of over 100. Webinars included requested information on childhood milestones and behavior. YouTube coverage included 106 ConnectEpeople videos with 28,708 impressions. Project information was obtained from 35 countries. The highest Facebook activity occurred during the early morning hours. Achievement of these results required dedicated time management, social media expertise, creativity, and sharing knowledge to curate valuable content. CONCLUSIONS: Building and maintaining a multilayered online forum for coproduction and information sharing is challenging. Technical considerations include understanding the functionality and versatility of social media metrics. Social media offers valuable, easily accessible, quantitative, and qualitative data that can drive the reciprocal process of forum development. The identification and integration of the needs of the ConnectEpeople e-forum was a key driver in the dissemination of useful, meaningful, and accessible information. The necessary dedicated administration to respond to requests and posts and collate data required significant time and effort. Participant safety, the development of trust, and the maintenance of confidentiality were major ethical considerations. Discussions on social media platforms enabled parents to support each other and their children. Social media platforms are particularly useful in identifying common family needs related to early childhood development. This research approach was challenging but resulted in valuable outputs requiring further application and testing. This may be of particular importance in response to COVID-19 or future pandemics. Incorporating flexible, adaptable social media strategies into research projects is recommended to develop effective platforms for collaborative and impactful research and dissemination.

[Epidemiological surveillance of congenital heart defects: the Tetralogy of Fallot in the Valencian Region, 2007-2017.] / Vigilancia epidemiológica de las anomalías congénitas cardíacas: La tetralogía de Fallot en la Comunitat Valenciana, 2007-2017.

OBJECTIVE: Tetralogy of Fallot is characterized by the presence of four congenital heart defects. Objective: to describe the temporal trend and distribution of Tetralogy of Fallot, in children under one year in the Valencian Region. METHODS: Cases with Tetralogy of Fallot (code Q21.3 from the ICD10-British Paediatric Association) were selected from the Congenital Anomalies Population-based Registry between 2007-2017. Prevalence per 10,000 births with 95%CI was calculated, and a descriptive analysis of sociodemographic and clinical variables was made. RESULTS: 165 cases were identified (43.6% male, 30.9% female and 25.5% unknown). The overall prevalence was 3.1/10,000 births (95%CI:2.6-3.6), being 2015 and 2017 the years with the highest (4.3/10,000 births and 4.7/10,000 births respectively) and 2011 with the lowest (1.8/10,000 births). 72.1% were live births, 24.8% Termination of Pregnancy for Fetal Anomaly (TOPFA) and 3.0% stillbirths. The prevalence in live births was 2.2/10,000 births (95%CI:1.8-2.7) and in TOPFA it was 0.8/10,000 births (95%CI:0.5-1.0), identifying an increasing trend along the period in the last one. 10.1% of live births died during the first year of life and 55.8% were diagnosed prenatally. Mothers younger than 20 years had the highest prevalence (4.8/10,000 births). CONCLUSIONS: The prevalence obtained in the Valencian Region was slightly lower than EUROCAT's but coincides with that of the registries that are closer geographically, and in all of them it is noted that their increasing trend specifically affects cases ending in TOPFA.

OBJETIVO: La Tetralogía de Fallot está caracterizada por la presencia de cuatro anomalías congénitas cardíacas. El objetivo de este trabajo fue describir la tendencia temporal y distribución de la Tetralogía de Fallot en menores de un año en la Comunitat Valenciana. METODOS: Se seleccionaron los casos con Tetralogía de Fallot (código Q21.3 de la CIE10 de la Asociación Pediátrica Británica) nacidos entre 2007-2017 del Registro Poblacional de anomalías congénitas de la Comunitat Valenciana. Se calculó la prevalencia por 10.000 nacimientos con IC95% y se realizó un análisis descriptivo de las variables sociodemográficas y clínicas. RESULTADOS: Se identificaron 165 casos (43,6% niños, 30,9% niñas y 25,5% de sexo desconocido). La prevalencia global fue 3,1/10.000 nacimientos (IC95%:2,6­3,6), siendo los años de mayor prevalencia 2015 y 2017 (4,3/10.000 nacimientos y 4,7/10.000 nacimientos respectivamente) y 2011 el de menor (1,8/10.000 nacimientos). El 72,1% fueron nacidos vivos, el 24,8% Interrupciones Voluntarias del Embarazo y el 3,0% nacidos muertos. La prevalencia en nacidos vivos fue 2,2/10.000 nacimientos (IC95%:1,8-2,7) y en Interrupciones Voluntarias del Embarazo fue 0,8/10.000 nacimientos (IC95%:0,5-1,0), identificándose en la segunda una tendencia en aumento a lo largo del periodo. El 10,1% de nacidos vivos fallecieron durante el primer año de vida y el 55,8% se diagnosticaron prenatalmente. El grupo con mayor prevalencia fueron las embarazadas menores de 20 años (4,8/10.000 nacimientos. CONCLUSIONES: La prevalencia obtenida en la Comunitat Valenciana fue ligeramente inferior a la de EUROCAT pero coincide con la de registros próximos geográficamente, y en todos ellos destaca que su tendencia creciente afecta específicamente a casos que finalizan en Interrupciones Voluntarias del Embarazo.

[Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries]. / Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras.

OBJECTIVE: To evaluate the sources of information used by the Regional Population-based Registries of Rare Diseases (RRD) for Wilson's Disease identification in Spain; to calculate its prevalence and mortality; and to describe the sociodemographic characteristics of those affected. METHOD: Cross-sectional epidemiological study, period 2010-2015. Possible cases were identified by codes 275.1 (ICD-9-CM), E83.0 (ICD-10) and 905 (ORPHAcode) in: 15 participating RRD and the Rare Disease Patients Registry of the Carlos III Health Institute. The diagnoses were confirmed through a clinical documentation review. The positive predictive value (PPV) of the sources of information used by RRD and their combinations were obtained. The prevalence, mortality and the distribution of sociodemographic characteristics were calculated. RESULTS: The Hospital Discharge Database (HDD) was the most used source by the RRD (PPV=39.4%), followed by the Orphan Drugs Registry (ODR) (PPV=81.9%). The Clinical History of Primary Care (PC) obtains PPV=55.9%. The combinations with highest PPV were the ODR with HDD (PPV=95.8%) and the ODR with PC (PPV=92.9%). 514 cases were confirmed, 57.2% men, with a median age of diagnosis of 21.3 years. The prevalence was 1.64/100,000 inhabitants in 2015 and mortality rate was 3.0%, being both higher in men. CONCLUSIONS: Incorporation of ODR and PC into the RRD is recommended, as its combination and ODR with HDD could be used as an automatic validation criterion for Wilson's disease. The prevalence obtained was similar to that of countries close to Spain.

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study.

BACKGROUND: Using social media for research purposes is novel and challenging in terms of recruitment, participant knowledge about the research process, and ethical issues. This paper provides insight into the recruitment of European parents of children with specific congenital anomalies to engage in coproduction research by using social media. Secret Facebook groups, providing optimal security, were set up for newly recruited research-aware parents (RAPs) to communicate privately and confidentially with each other and for the research team to generate questions and to interpret findings. OBJECTIVE: This study aimed to use social media for the recruitment and engagement of parents in research and to determine the research priorities of parents who have children with Down syndrome, cleft lip with or without cleft palate, congenital heart defects, and spina bifida. METHODS: The design was exploratory and descriptive with 3 phases. Phase 1 included the recruitment of RAPs and generation of research questions important to them; phase 2 was a Web-based survey, designed using Qualtrics software, and phase 3 included analysis and ranking of the top 10 research questions using an adapted James Lind Alliance approach. Simple descriptive statistics were used for analysis, and ethical approval was obtained from the Ethics Filter Committee of the Institute of Nursing and Health Research, Ulster University. RESULTS: The recruitment of 32 RAPs was a sensitive process, varying in the time taken to consent (mean 51 days). However, parents valued the screening approach using the State-Trait Anxiety Inventory as a measure to ensure their well-being (mean 32.5). In phase 1, RAPs generated 98 research questions. In phase 2, 251 respondents accessed the Web-based survey, 248 consented, and 80 completed the survey, giving a completeness rate of 32.3% (80/248). Most parents used social media (74/80, 92%). Social media, online forums, and meeting in person were ranked the most preferable methods for communication with support groups networks and charities. Most respondents stated that they had a good understanding of research reports (71/80, 89%) and statistics (68/80, 85%) and could differentiate among the different types of research methodologies (62/80, 78%). Phase 3 demonstrated consensus among RAPs and survey respondents, with a need to know the facts about their child's condition, future health, and psychosocial and educational outcomes for children with similar issues. CONCLUSIONS: Social media is a valuable facilitator in the coproduction of research between parents and researchers. From a theoretical perspective, ocularcentrism can be an applicable frame of reference for understanding how people favor visual contact.

[Wilson disease: The look of medical staff, patients and family members]. / La enfermedad de Wilson: las diversas perspectivas del profesional sanitario, afectado y familiar.

OBJECTIVE: Wilson disease (WD) is a rare congenital disease that causes hepatic, neurological or lenticular degeneration due to the accumulation of copper. Sometimes it is incapacitating with implications in the quality of life of those affected and their families. The objective of this work was to identify the needs of medical staff and the social and emotional needs of patients with WD and their families. METHODS: A qualitative research was developed in the Valencian Region during 2015-2016, five interviews with medical staff and two focus groups were made, one with family members and another with patients using a script divided into: diagnosis, treatment, health care and quality of life. The information was collected in audio/video and transcribed. An analysis of discourse (professional vs family/affected) determining needs was made. RESULTS: Medical staff need more knowledge about this pathology. Better educational training for them would facilitate the diagnosis. Families and patients need more information about the guidelines for the treatment's administration and foods that should be excluded from the diet. The correct administration of the treatment will allow those affected to improve their quality of life with a total or partial recovery of their symptoms.. CONCLUSIONS: Peru has made significant progress in reducing chronic malnutrition in children, but it still represents a health problem due to high prevalence in the sierra and expansion to jungles districts in 2016. Policies and programs should continue and enhance to avoid the high burden of disease that generates malnutrition in the development of children.

OBJETIVO: La Enfermedad de Wilson (EW) es una patología rara congénita y hereditaria que se produce por acumulación de cobre en el organismo, degeneración crónica hepática, neurológica o lenticular. En ocasiones es incapacitante por lo que influye en la calidad de vida de afectados y familiares. El objetivo de este trabajo fue identificar las necesidades médicas, sociales y emocionales de pacientes y familiares. METODOS: Con metodología cualitativa se realizaron en la Comunitat Valenciana (CV), en 2015-2016, 5 entrevistas a profesionales sanitarios y 2 grupos de discusión, uno con familiares y otro con afectados. Se elaboró un guión estructurado en: diagnóstico, tratamiento, atención sanitaria y calidad de vida. La información se recogió en audio/video, previa autorización y se transcribió literalmente. Se realizó un análisis del discurso (profesionales vs. familiares/afectados) determinando necesidades y demandas concretas. RESULTADOS: Los profesionales se mostraron emocionalmente distantes de las necesidades emocionales de afectados y familiares y consideraron necesario disponer de mayor información para facilitar el diagnóstico precoz. Las familias expresaron preocupación sobre la adherencia al tratamiento, especialmente en adolescentes, y confusión sobre la importancia de seguir una dieta baja en cobre. Los afectados reconocieron tener dudas sobre la funcionalidad de la medicación. Los afectados neurológicamente se sintieron estigmatizados por las secuelas físicas de la enfermedad. CONCLUSIONES: Los sanitarios consideran que tener un mayor conocimiento sobre esta enfermedad facilitaría una detección precoz. Familiares y afectados necesitan indicaciones claras y especificadas sobre las pautas de administración del tratamiento y sobre los alimentos que deben excluir de la dieta.

La enfermedad de Wilson: las diversas perspectivas del profesional sanitario, afectado y familiar / Wilson disease: The look of medical staff, patients and family members

OBJETIVO: La Enfermedad de Wilson (EW) es una patología rara congénita y hereditaria que se produce por acumulación de cobre en el organismo, degeneración crónica hepática, neurológica o lenticular. En ocasiones es incapacitante por lo que influye en la calidad de vida de afectados y familiares. El objetivo de este trabajo fue identificar las necesidades médicas, sociales y emocionales de pacientes y familiares. MÉTODOS: Con metodología cualitativa se realizaron en la Comunitat Valenciana (CV), en 2015-2016, 5 entrevistas a profesionales sanitarios y 2 grupos de discusión, uno con familiares y otro con afectados. Se elaboró un guión estructurado en: diagnóstico, tratamiento, atención sanitaria y calidad de vida. La información se recogió en audio/video, previa autorización y se transcribió literalmente. Se realizó un análisis del discurso (profesionales vs. familiares/afectados) determinando necesidades y demandas concretas. RESULTADOS: Los profesionales se mostraron emocionalmente distantes de las necesidades emocionales de afectados y familiares y consideraron necesario disponer de mayor información para facilitar el diagnóstico precoz. Las familias expresaron preocupación sobre la adherencia al tratamiento, especialmente en adolescentes, y confusión sobre la importancia de seguir una dieta baja en cobre. Los afectados reconocieron tener dudas sobre la funcionalidad de la medicación. Los afectados neurológicamente se sintieron estigmatizados por las secuelas físicas de la enfermedad. CONCLUSIONES: Los sanitarios consideran que tener un mayor conocimiento sobre esta enfermedad facilitaría una detección precoz. Familiares y afectados necesitan indicaciones claras y especificadas sobre las pautas de administración del tratamiento y sobre los alimentos que deben excluir de la dieta

OBJECTIVE: Wilson disease (WD) is a rare congenital disease that causes hepatic, neurological or lenticular degeneration due to the accumulation of copper. Sometimes it is incapacitating with implications in the quality of life of those affected and their families. The objective of this work was to identify the needs of medical staff and the social and emotional needs of patients with WD and their families. METHODS: A qualitative research was developed in the Valencian Region during 2015-2016, five interviews with medical staff and two focus groups were made, one with family members and another with patients using a script divided into: diagnosis, treatment, health care and quality of life. The information was collected in audio/video and transcribed. An analysis of discourse (professional vs family/affected) determining needs was made. RESULTS: Medical staff need more knowledge about this pathology. Better educational training for them would facilitate the diagnosis. Families and patients need more information about the guidelines for the treatment's administration and foods that should be excluded from the diet. The correct administration of the treatment will allow those affected to improve their quality of life with a total or partial recovery of their symptoms. CONCLUSIONS: Peru has made significant progress in reducing chronic malnutrition in children, but it still represents a health problem due to high prevalence in the sierra and expansion to jungles districts in 2016. Policies and programs should continue and enhance to avoid the high burden of disease that generates malnutrition in the development of children

Consumo de medicamentos en el embarazo y riesgo de anomalías congénitas en la Comunitat Valenciana / Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies

Antecedentes: El consumo de medicamentos durante el embarazo se ha incrementado en las últimas décadas. Objetivo: Identificar el riesgo de anomalías congénitas (AC) asociado a la utilización de medicamentos en atención ambulatoria en embarazadas residentes en la Comunitat Valenciana. Métodos: Estudio de casos-controles, considerando caso a menores de un año nacidos vivos en 2009-2010 diagnosticados de AC y residentes en la Comunitat Valenciana, obtenidos del registro poblacional de AC. Los controles se seleccionaron del Registro de Metabolopatías y la medicación prescrita y dispensada se obtuvo del módulo Gestión Integral de Prestación Farmacéutica. Se calcularon las odds ratio (OR) y los intervalos de confianza al 95% y las OR ajustadas mediante regresión logística. Resultados: Se identificaron 1.913 casos y 3.826 controles. Los grupos de medicamentos más frecuentemente prescritos y dispensados fueron: los que actúan sobre los sistemas musculoesquelético, nervioso, respiratorio, sobre la sangre y órganos hematopoyéticos, y antiinfecciosos. Los medicamentos más habituales fueron: ibuprofeno, dexketoprofeno, paracetamol, amoxicilina, sulfato de hierro y una combinación de ácido fólico. Se identificó un aumento del riesgo de anomalías congénitas significativo para los fármacos de acción sobre el sistema musculoesquelético (OR ajustada de 1,14 [intervalo de confianza al 95% 1,02-1,28]). Se observó una disminución del riesgo significativa en el grupo que actúa sobre la sangre y los órganos hematopoyéticos (OR ajustada de 0,87 [intervalo de confianza al 95% 0,78-0,98]). Conclusiones: Se han identificado asociaciones de medicamentos con AC en mujeres embarazadas residentes en la Comunitat Valenciana, tanto para fármacos que actúan como factores de riesgo de AC como para fármacos que actúan como factores protectores de AC (AU)

Background: Despite the potential risks of drug use during pregnancy, consumption has increased in recent decades. Objective: To identify the risk of congenital anomalies (CA) associated with the use of drugs in primary care in pregnant women residents in the Valencia Region. Methods: A case-control study, considering a case as a less than one year old live birth in 2009-2010, diagnosed with a CA and resident in the Valencia Region, obtained from the CA population-based registry. Controls were selected from the Metabolic Disease Registry, and the drugs prescribed and dispensed from the Integral Management of Pharmaceutical Services. Crude odds ratio (OR) was calculated with its 95% confidence intervals and adjusted OR was calculated using logistic regression. Results: A total of 1,913 cases and 3,826 controls were identified. The most frequently used drug groups were those acting on the musculoskeletal, nervous and respiratory systems, on the blood and blood forming organs, and anti-infection drugs. The most common drugs used were ibuprofen, dexketoprofen, paracetamol, amoxicillin, ferrous sulphate, and a combination of folic acid. A significantly increased risk of CA was identified for drugs acting on the musculoskeletal system (adjusted OR 1.14 [95% confidence interval 1.02-1.28]). A significantly decreased risk was observed for drugs acting on the blood and blood forming organs (adjusted OR 0.87 [95% confidence interval 0.78-0.98]). Conclusions: Associations between drugs and CA in pregnant women resident in the Valencia Region have been identified for drugs that act as risk factors of CA, and for drugs that act as protective factors of CA (AU)

[Drugs use in pregnancy in the Valencia Region and the risk of congenital anomalies]. / Consumo de medicamentos en el embarazo y riesgo de anomalías congénitas en la Comunitat Valenciana.

BACKGROUND: Despite the potential risks of drug use during pregnancy, consumption has increased in recent decades. OBJECTIVE: To identify the risk of congenital anomalies (CA) associated with the use of drugs in primary care in pregnant women residents in the Valencia Region. METHODS: A case-control study, considering a case as a less than one year old live birth in 2009-2010, diagnosed with a CA and resident in the Valencia Region, obtained from the CA population-based registry. Controls were selected from the Metabolic Disease Registry, and the drugs prescribed and dispensed from the Integral Management of Pharmaceutical Services. Crude odds ratio (OR) was calculated with its 95% confidence intervals and adjusted OR was calculated using logistic regression. RESULTS: A total of 1,913 cases and 3,826 controls were identified. The most frequently used drug groups were those acting on the musculoskeletal, nervous and respiratory systems, on the blood and blood forming organs, and anti-infection drugs. The most common drugs used were ibuprofen, dexketoprofen, paracetamol, amoxicillin, ferrous sulphate, and a combination of folic acid. A significantly increased risk of CA was identified for drugs acting on the musculoskeletal system (adjusted OR 1.14 [95% confidence interval 1.02-1.28]). A significantly decreased risk was observed for drugs acting on the blood and blood forming organs (adjusted OR 0.87 [95% confidence interval 0.78-0.98]). CONCLUSIONS: Associations between drugs and CA in pregnant women resident in the Valencia Region have been identified for drugs that act as risk factors of CA, and for drugs that act as protective factors of CA.

A corazón abierto: vivencias de madres y padres de menores con anomalías congénitas cardiacas / An open heart: experiences of the parents of children with congenital heart disease

Objetivo: Explorar con perspectiva de género las vivencias de madres y padres en los primeros momentos tras el diagnóstico de una anomalía congénita cardiaca en un/una hijo/a, integrando la visión de personal sanitario que atiende a estos/as menores y a sus familiares. Método: Estudio de diseño cualitativo. Se realizaron cuatro entrevistas en profundidad a personal sanitario y cuatro grupos de discusión con madres y padres residentes en la Comunitat Valenciana. Los participantes se seleccionaron mediante muestreo intencionado. El análisis del discurso se trianguló entre ambas técnicas y entre investigadores, y se verificaron los resultados con madres, padres y profesionales sanitarios. Resultados: Existen diferencias entre madres y padres en la manera de expresar emocionalmente y afrontar el diagnóstico de una enfermedad grave en un/una hijo/a. Sin embargo, ambos progenitores manifiestan la necesidad de disponer de apoyo psicológico formal, y valoran positivamente el apoyo informal de otros/as padres/madres con vivencias similares. Conclusiones: La vivencia de la enfermedad en un/una hijo/a es diferente para madres y padres. Desde los servicios de salud debería prestarse atención al bienestar psicológico de las familias, incorporando los grupos de apoyo entre iguales y las asociaciones de pacientes como activos en salud (AU)

Objective: To explore, from a gender perspective, the experiences of mothers and fathers of children with congenital heart disease at the time of diagnosis, including the opinions of medical staff taking care of these children and their families. Methods: Qualitative research. Four individual interviews with medical staff and four focus groups with mothers and fathers living in Valencia Region (Spain) were carried out. Participants were selected by purposive sampling. The discourse analysis was triangulated between techniques and researchers and the results were verified with mothers, fathers and medical staff. Results: Mothers and fathers differed in the way they expressed their emotions and in how they accepted the diagnosis of a serious illness in their child. However, both parents expressed the need for psychological support and highly appreciated the informal support from other parents with similar experiences. Conclusions: The experience of the disease in a child is experienced differently by mothers and fathers. Health servies should pay attention to the psychological well-being of families, by including peer support groups and patient associations, which can play an important role as health assets (AU)

[An open heart: experiences of the parents of children with congenital heart disease]. / A corazón abierto: vivencias de madres y padres de menores con anomalías congénitas cardiacas.

OBJECTIVE: To explore, from a gender perspective, the experiences of mothers and fathers of children with congenital heart disease at the time of diagnosis, including the opinions of medical staff taking care of these children and their families. METHODS: Qualitative research. Four individual interviews with medical staff and four focus groups with mothers and fathers living in Valencia Region (Spain) were carried out. Participants were selected by purposive sampling. The discourse analysis was triangulated between techniques and researchers and the results were verified with mothers, fathers and medical staff. RESULTS: Mothers and fathers differed in the way they expressed their emotions and in how they accepted the diagnosis of a serious illness in their child. However, both parents expressed the need for psychological support and highly appreciated the informal support from other parents with similar experiences. CONCLUSIONS: The experience of the disease in a child is experienced differently by mothers and fathers. Health servies should pay attention to the psychological well-being of families, by including peer support groups and patient associations, which can play an important role as health assets.