M Posada De La Paz
Dados Biográficos
| ID | 1343516 |
|---|---|
| NOME | M Posada De La Paz |
| PRENOMES | M Posada |
| SOBRENOME | De La Paz |
| ASSINATURA | DE LA PAZ M P |
| AFILIAÇÕES | Instituto de Salud Carlos III |
| ORCID | 0000-0002-8372-4180 |
| VERIFICADO | Sim |
| TOTAL DE OBRAS | 20 |
| TOTAL DE CITAÇÕES | 1 |
| OBRAS COMO AUTOR | 20 |
| OBRAS COMO EDITOR | 0 |
| PRIMEIRO ANO DE PUBLICAÇÃO | 2006 |
| ANO MAIS RECENTE DE PUBLICAÇÃO | 2025 |
| ÍNDICE H | 1 |
A global survey about undiagnosed rare diseases
Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized. Methods: We surveyed UDNI members and participants from other countries to explore the chal…
Undiagnosed diseases
Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden. Methods: In October 2020, the Developing Nations Working Group of the Undiagnosed D…
Unmet needs in countries participating in the undiagnosed diseases network international
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these condi…
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal
The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed
Familial Mediterranean Fever in Spain
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average perc…
Autistic Adult Services Availability, Preferences, and User Experiences
There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons respon…
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire
The Spanish version of the QoLEB questionnaire can be recommended for use in any subsequent studies seeking to assess the efficacy of possible treatments and care programmes in this group
Diagnostic Process in Rare Diseases
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as "diagnostic delay"). We conducted a case-control study, using a purpose-designed form from the Spanish Rare Diseases Pat…
The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires
El trastorno del espectro autista en la Unión Europea (Asdeu)
La mejora de los servicios de apoyo para las personas con trastorno del espectro autista (TEA) y a sus familias en Europa requiere conocer su realidad epidemiológica, así como identificar las experiencias y procedimientos para la detección, diagnóstico, tratamiento y apoyo más eficaces y mejor valorados por los receptores de estos servicios. El proyecto “El Trastorno del Espectro Autista en la Unión Europea” (ASDEU) ha impulsado entre 2014 y 2018…
Autistic Adult Health and Professional Perceptions of It
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronicall…
Mortalidad atribuida a telangiectasia hemorrágica hereditaria y variabilidad geográfica en España (1981-2016)
Conocer la mortalidad directamente atribuida a la telangiectasia hemorrágica hereditaria (THH) en España, su tendencia temporal y la posible variabilidad geográfica. El total de los fallecidos por THH de base poblacional se obtuvo del Instituto Nacional de Estadística, seleccionando los códigos 448.0 (CIE 9-MC, 1981-1998) y I78.0 (CIE 10, 1999-2016) como causa básica de defunción. Se calcularon las tasas de mortalidad específicas y ajustadas por …
Efficacy of focused social and communication intervention practices for young children with autism spectrum disorder
Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain
The aim of this study is to analyze population-based mortality attributed to cystic fibrosis (CF) over 36 years in Spain. CF deaths were obtained from the National Statistics Institute, using codes 277.0 from the International Classification of Diseases (ICD) ninth revision (ICD9-CM) and E84 from the tenth revision (ICD10) to determine the underlying cause of death. We calculated age-specific and age-adjusted mortality rates, and time trends were…
Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain
The etiology of motor neuron disease (MND) is still unknown. The aims of this study were to: (1) analyze MND mortality at a fine-grained level; and (2) explore associations of MND and heavy metals released into Spanish river basins. MND deaths were extracted from the Spanish nationwide mortality registry (2007−2016). Standardized mortality ratios (SMRs) for MND were estimated at a municipal level. Sites that emitted quantities of heavy metals abo…
Recommendations for Improving the Quality of Rare Disease Registries
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidan…
A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies
This study aimed to analyse population-based mortality attributed to rare congenital anomalies (CAs) and assess the associated time trends and geographical differences in Spain. Data on CA-related deaths were sourced from annual mortality databases kept by the National Statistics Institute of Spain (1999−2013). Based on the ICD-10, only CAs corresponding to rare diseases definition were included in this study. Annual age-adjusted mortality rates …
SpainUDP
One of the IRDiRC goals for 2017−2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients' needs and after seeing the success of the Undiagnosed Diseases Program (UDP) in the USA. SpainUDP offers a multidisci…
Further evidence supporting a genetic background for Paget's disease of bone in Spain
The aim of this paper is to investigate heritable factors that might be related to the recognised genetic susceptibility for developing Paget's disease of bone (PD). This was a hospital-based, case-control study of a systematically selected group of PD patients and a group of controls drawn from the same health setting. In these populations we assessed surname pattern, parental consanguinity and constitutional physical traits. In a separate case-…
La detección precoz del autismo
Autism is a serious disorder of child growth, stemming from the pre-natal stage and enduring the whole life. During the past decade a lot of studies have provided information about how to detect autism at an early stage. This paper reviews the advantages of early detection and assistance; outlines early autism signs and describes early detection tools. Finally, the paper addresses the screening schedule undertaken in Castille and Leon, concluding…
La detección precoz del autismo
Autism is a serious disorder of child growth, stemming from the pre-natal stage and enduring the whole life. During the past decade a lot of studies have provided information about how to detect autism at an early stage. This paper reviews the advantages of early detection and assistance; outlines early autism signs and describes early detection tools. Finally, the paper addresses the screening schedule undertaken in Castille and Leon, concluding…
Further evidence supporting a genetic background for Paget's disease of bone in Spain
The aim of this paper is to investigate heritable factors that might be related to the recognised genetic susceptibility for developing Paget's disease of bone (PD). This was a hospital-based, case-control study of a systematically selected group of PD patients and a group of controls drawn from the same health setting. In these populations we assessed surname pattern, parental consanguinity and constitutional physical traits. In a separate case-…
Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain
The etiology of motor neuron disease (MND) is still unknown. The aims of this study were to: (1) analyze MND mortality at a fine-grained level; and (2) explore associations of MND and heavy metals released into Spanish river basins. MND deaths were extracted from the Spanish nationwide mortality registry (2007−2016). Standardized mortality ratios (SMRs) for MND were estimated at a municipal level. Sites that emitted quantities of heavy metals abo…
Recommendations for Improving the Quality of Rare Disease Registries
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidan…
A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies
This study aimed to analyse population-based mortality attributed to rare congenital anomalies (CAs) and assess the associated time trends and geographical differences in Spain. Data on CA-related deaths were sourced from annual mortality databases kept by the National Statistics Institute of Spain (1999−2013). Based on the ICD-10, only CAs corresponding to rare diseases definition were included in this study. Annual age-adjusted mortality rates …
SpainUDP
One of the IRDiRC goals for 2017−2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients' needs and after seeing the success of the Undiagnosed Diseases Program (UDP) in the USA. SpainUDP offers a multidisci…
Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain
The aim of this study is to analyze population-based mortality attributed to cystic fibrosis (CF) over 36 years in Spain. CF deaths were obtained from the National Statistics Institute, using codes 277.0 from the International Classification of Diseases (ICD) ninth revision (ICD9-CM) and E84 from the tenth revision (ICD10) to determine the underlying cause of death. We calculated age-specific and age-adjusted mortality rates, and time trends were…
Mortalidad atribuida a telangiectasia hemorrágica hereditaria y variabilidad geográfica en España (1981-2016)
Conocer la mortalidad directamente atribuida a la telangiectasia hemorrágica hereditaria (THH) en España, su tendencia temporal y la posible variabilidad geográfica. El total de los fallecidos por THH de base poblacional se obtuvo del Instituto Nacional de Estadística, seleccionando los códigos 448.0 (CIE 9-MC, 1981-1998) y I78.0 (CIE 10, 1999-2016) como causa básica de defunción. Se calcularon las tasas de mortalidad específicas y ajustadas por …
Efficacy of focused social and communication intervention practices for young children with autism spectrum disorder
El trastorno del espectro autista en la Unión Europea (Asdeu)
La mejora de los servicios de apoyo para las personas con trastorno del espectro autista (TEA) y a sus familias en Europa requiere conocer su realidad epidemiológica, así como identificar las experiencias y procedimientos para la detección, diagnóstico, tratamiento y apoyo más eficaces y mejor valorados por los receptores de estos servicios. El proyecto “El Trastorno del Espectro Autista en la Unión Europea” (ASDEU) ha impulsado entre 2014 y 2018…
Autistic Adult Health and Professional Perceptions of It
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronicall…
Autistic Adult Services Availability, Preferences, and User Experiences
There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons respon…
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire
The Spanish version of the QoLEB questionnaire can be recommended for use in any subsequent studies seeking to assess the efficacy of possible treatments and care programmes in this group
Diagnostic Process in Rare Diseases
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as "diagnostic delay"). We conducted a case-control study, using a purpose-designed form from the Spanish Rare Diseases Pat…
The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires
Undiagnosed diseases
Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden. Methods: In October 2020, the Developing Nations Working Group of the Undiagnosed D…
Unmet needs in countries participating in the undiagnosed diseases network international
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these condi…
Prevalence of Autism Spectrum Disorder in the Centro region of Portugal
The results indicate that the diagnosis of ASD is followed by the most effective educational policies in Centro Region. The variability in prevalence estimates across the different regions from the ASDEU project, and globally, is discussed
Familial Mediterranean Fever in Spain
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average perc…
A global survey about undiagnosed rare diseases
Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized. Methods: We surveyed UDNI members and participants from other countries to explore the chal…
Medicine (17 obras) · Environmental health (7 obras) · Psychology (7 obras) · Autism Spectrum Disorder Research (6 obras) · Demography (6 obras) · Genomics and Rare Diseases (6 obras) · Clinical Psychology (5 obras) · Clinical Psychology (5 obras) · Demography (5 obras) · Disease (5 obras)