12 research outputs found

    Satisfacao dos profissionais e da comunidade com a estrategia da saude da familia

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    OBJETIVO: Analisar as limitações e os pontos positivos da Estratégia de Saúde da Família na perspectiva dos profissionais da saúde e da comunidade. MÉTODOS: Estudo realizado entre os meses de junho e agosto de 2009, na cidade de Vespasiano, MG, localizada na região Sudeste do Brasil. Para avaliar a Estratégia de Saúde da Família (ESF), foi aplicado questionário em 77 profissionais da saúde e 293 cuidadores de crianças menores de cinco anos. Variáveis como o treinamento das equipes de saúde, acesso da comunidade aos serviços prestados pelas equipes de ESF, comunicação com os pacientes, a atenção prestada à criança e as informações de saúde passadas aos cuidadores foram alguns dos pontos de interesse da investigação. Análises de regressão logística foram utilizadas para se avaliar a significância estatística das variáveis estudadas, bem como os valores de odds ratio e intervalo de confiança. RESULTADOS: A maioria dos profissionais relatou que seus treinamentos foram insuficientes em quantidade, conteúdo e metodologia utilizada. Os cuidadores e profissionais identificaram semelhantes limitações da Estratégia de Saúde da Família (os serviços inacessíveis à comunidade, falta de treinamento e número insuficiente de profissionais) e também pontos fortes semelhantes (a comunicação entre agentes comunitários e comunidade, fornecimento de informações educacionais e foco na atenção à criança). Como recomendações para a melhoria do programa foram apontados: a necessidade de mais médicos e especialistas, treinamentos em maior quantidade e qualidade e melhoria na marcação de consultas. A satisfação dos cuidadores foi relacionada aos benefícios ofertados, como as visitas dos profissionais às casas (OR 5,8; IC95% 2,8;12,1), boa relação entre comunidade e profissionais (OR 4,8; IC95% 2,5;9,3) e foco na saúde da família (OR 4,1; IC95% 1,6;10,2). Problemas como número insuficiente de profissionais (OR 0,3; IC95% 0,2;0,6), dificuldade de acesso aos serviços prestados pela ESF (OR 0,2; IC95% 0,1;0,4) e qualidade ruim dos serviços ofertados (OR 0,3; IC95% 0,1;0,6) foram relacionados à insatisfação da comunidade com a ESF. De uma maneira geral, a maioria dos cuidadores (62%) mostraram estar satisfeitos com os serviços prestados pela ESF. CONCLUSÕES: Identificar as limitações e os pontos positivos da ESF pode gerar uma valiosa informação, que auxiliará na melhoria dessa estratégia para a atenção primária no Brasil.OBJETIVO: Analizar las limitaciones y los puntos positivos de la Estrategia de Salud de la Familia en la perspectiva de los profesionales de la salud y de la comunidad. MÉTODOS: Estudio realizado entre los meses de Junio y Agosto de 2009, en la ciudad de Vespasiano, MG, localizada en el la región sureste de Brasil. Para evaluar la Estrategia de la Salud de la Familia (ESF), se aplicó cuestionario en 77 profesionales de la salud y 293 cuidadores de niños menores de cinco años. Las Variables, entrenamiento de los grupos de salud, acceso de la comunidad a los servicios suministrados por los grupos de ESF, comunicación con los pacientes, la atención suministrada al niño y las informaciones de salud entregadas a los cuidadores, fueron algunos de los puntos de interés de la investigación. Los análisis de regresión logística se utilizaron para evaluar la significancia estadística de las variables estudiadas, así como los valores de odds ratio (OR) e intervalo de confianza (IC). RESULTADOS: La mayoría de los profesionales mencionó que sus entrenamientos fueron insuficientes en cantidad, contenido y metodología utilizada. Los cuidadores y profesionales identificaron limitaciones semejantes de la ESF (los servicios inaccesibles a la comunidad, falta de entrenamiento e insuficiente número de profesionales) y también semejantes puntos fuertes (la comunicación entre agentes comunitarios y comunidad, suministro de informaciones educativas y énfasis en la atención del niño). Como recomendaciones para mejorar el programa fueron señalados: la necesidad de más médicos y especialistas, entrenamientos en mayor cantidad y calidad y mejoría al concertar cita con médicos. La satisfacción de los cuidadores fue relacionada con los beneficios ofertados, como las visitas de los profesionales a las casas (OR 5,8; IC95% 2,8;12,1), buena relación entre comunidad y profesionales (OR 4,8; IC95% 2,5;9,3) y, énfasis en la salud de la familia (OR 4,1; IC 95% 1,6; 10,2). Problemas como insuficiente número de profesionales (OR 0,3; IC95% 0,2;0,6), dificultad en el acceso a los servicios suministrados por la ESF (OR 0,2; IC95% 0,1;0,4) y mala calidad de los servicios ofertados (OR 0,3; IC95% 0,1;0,6) se relacionaron con la insatisfacción de la comunidad con la ESF. De una forma general, la mayoría de los cuidadores (62%) mostraron estar satisfechos con los servicios suministrados por la ESF. CONCLUSIONES: Identificar las limitaciones y los puntos positivos de la ESF puede generar una información valiosa que ayudará en la mejoría de ésta estrategia de atención primaria en Brasil.OBJECTIVE: To analyze the strengths and limitations of the Family Health Strategy from the perspective of health care professionals and the community. METHODS: Between June-August 2009, in the city of Vespasiano, Minas Gerais State, Southeastern Brazil, a questionnaire was used to evaluate the Family Health Strategy (ESF) with 77 healthcare professionals and 293 caregivers of children under five. Health care professional training, community access to health care, communication with patients and delivery of health education and pediatric care were the main points of interest in the evaluation. Logistic regression analysis was used to obtain odds ratios and 95% confidence intervals as well as to assess the statistical significance of the variables studied. RESULTS: The majority of health care professionals reported their program training was insufficient in quantity, content and method of delivery. Caregivers and professionals identified similar weaknesses (services not accessible to the community, lack of healthcare professionals, poor training for professionals) and strengths (community health worker-patient communications, provision of educational information, and pediatric care). Recommendations for improvement included: more doctors and specialists, more and better training, and scheduling improvements. Caregiver satisfaction with the ESF was found to be related to perceived benefits such as community health agent household visits (OR 5.8, 95%CI 2.8;12.1), good professional-patient relationships (OR 4.8, 95%CI 2.5;9.3), and family-focused health (OR 4.1, 95%CI 1.6;10.2); and perceived problems such as lack of personnel (OR 0.3, 95%CI 0.2;0.6), difficulty with access (OR 0.2, 95%CI 0.1;0.4), and poor quality of care (OR 0.3, 95%CI 0.1;0.6). Overall, 62% of caregivers reported being generally satisfied with the ESF services. CONCLUSIONS: Identifying the limitations and strengths of the Family Health Strategy from the healthcare professional and caregiver perspective may serve to advance primary community healthcare in Brazil

    Curriculum vitae of the LOTOS-EUROS (v2.0) chemistry transport model

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    The development and application of chemistry transport models has a long tradition. Within the Netherlands the LOTOS–EUROS model has been developed by a consortium of institutes, after combining its independently developed predecessors in 2005. Recently, version 2.0 of the model was released as an open-source version. This paper presents the curriculum vitae of the model system, describing the model's history, model philosophy, basic features and a validation with EMEP stations for the new benchmark year 2012, and presents cases with the model's most recent and key developments. By setting the model developments in context and providing an outlook for directions for further development, the paper goes beyond the common model description. With an origin in ozone and sulfur modelling for the models LOTOS and EUROS, the application areas were gradually extended with persistent organic pollutants, reactive nitrogen, and primary and secondary particulate matter. After the combination of the models to LOTOS–EUROS in 2005, the model was further developed to include new source parametrizations (e.g. road resuspension, desert dust, wildfires), applied for operational smog forecasts in the Netherlands and Europe, and has been used for emission scenarios, source apportionment, and long-term hindcast and climate change scenarios. LOTOS–EUROS has been a front-runner in data assimilation of ground-based and satellite observations and has participated in many model intercomparison studies. The model is no longer confined to applications over Europe but is also applied to other regions of the world, e.g. China. The increasing interaction with emission experts has also contributed to the improvement of the model's performance. The philosophy for model development has always been to use knowledge that is state of the art and proven, to keep a good balance in the level of detail of process description and accuracy of input and output, and to keep a good record on the effect of model changes using benchmarking and validation. The performance of v2.0 with respect to EMEP observations is good, with spatial correlations around 0.8 or higher for concentrations and wet deposition. Temporal correlations are around 0.5 or higher. Recent innovative applications include source apportionment and data assimilation, particle number modelling, and energy transition scenarios including corresponding land use changes as well as Saharan dust forecasting. Future developments would enable more flexibility with respect to model horizontal and vertical resolution and further detailing of model input data. This includes the use of different sources of land use characterization (roughness length and vegetation), detailing of emissions in space and time, and efficient coupling to meteorology from different meteorological models

    Professional and community satisfaction with the Brazilian family health strategy

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    OBJECTIVE: To analyze the strengths and limitations of the Family Health Strategy from the perspective of health care professionals and the community. METHODS: Between June-August 2009, in the city of Vespasiano, Minas Gerais State, Southeastern Brazil, a questionnaire was used to evaluate the Family Health Strategy (ESF) with 77 healthcare professionals and 293 caregivers of children under five. Health care professional training, community access to health care, communication with patients and delivery of health education and pediatric care were the main points of interest in the evaluation. Logistic regression analysis was used to obtain odds ratios and 95% confidence intervals as well as to assess the statistical significance of the variables studied. RESULTS: The majority of health care professionals reported their program training was insufficient in quantity, content and method of delivery. Caregivers and professionals identified similar weaknesses (services not accessible to the community, lack of healthcare professionals, poor training for professionals) and strengths (community health worker-patient communications, provision of educational information, and pediatric care). Recommendations for improvement included: more doctors and specialists, more and better training, and scheduling improvements. Caregiver satisfaction with the ESF was found to be related to perceived benefits such as community health agent household visits (OR 5.8, 95%CI 2.8;12.1), good professional-patient relationships (OR 4.8, 95%CI 2.5;9.3), and family-focused health (OR 4.1, 95%CI 1.6;10.2); and perceived problems such as lack of personnel (OR 0.3, 95%CI 0.2;0.6), difficulty with access (OR 0.2, 95%CI 0.1;0.4), and poor quality of care (OR 0.3, 95%CI 0.1;0.6). Overall, 62% of caregivers reported being generally satisfied with the ESF services. CONCLUSIONS: Identifying the limitations and strengths of the Family Health Strategy from the healthcare professional and caregiver perspective may serve to advance primary community healthcare in Brazil

    Modellierung von Luftqualität unter sich ändernden klimatischen Bedingungen

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    Air quality is strongly dependent on meteorology and thus is sensitive to climate change. In order to study the impact of a changing climate on particulate matter (PM) concentration over Europe and on the PM urban increment of three north-west European urban agglomerations two different model approaches have been used in this study. Another focus was on the strengths and weaknesses of the model systems used in the approaches. The first approach was to analyze a synoptic situation in the past which is expected to occur more often in the future, here the extreme meteorological situation in the summer 2003, in terms of its effect on the concentration of PM10 and its components. To this end measurements and model simulations with the chemistry transport models (CTMs) LOTOS-EUROS and REM/Calgrid of the summer 2003 were compared to the summer average of the years 2003-2007. The second approach was to use the off-line coupled model system RACMO2 (regional climate model) – LOTOS-EUROS (air quality model) over Europe. Three different sets of simulations were carried out using RACMO2 meteorology with boundary conditions from two different global climate models (scenario runs) and from reanalysis data. Motivated by findings of the first studies the sensitivity of air pollutant simulations with the LOTOS-EUROS model to temporal distribution of anthropogenic emissions using more detailed time profiles for three source categories were tested. PM10 concentrations in Europe may be affected by climate change, as indicated by the observed positive differences in PM10 concentrations between the extreme summer of 2003 and the five years summer average. The investigation of the impact of climate change on air quality with a numerical model system requires a good description of the processes related to meteorology in the CTMs. One main outcome is that both CTMs failed to fully reproduce the increase of measured PM10 concentrations during conditions with very low and high daily maximum temperature and also underestimate the increased concentrations in the summer 2003. This was found to be mainly due to missing but important components and emission sources or uncertainties therein. Furthermore, a dependency of anthropogenic emission on meteorology is not considered in the models but may enhance the model performance as indicated by results of the sensitivity study. The impact of climate change on the simulated PM10 concentrations and the urban increment was found to be small in both scenario runs performed with the RACMO2 – LOTOS-EUROS model system. For many locations the two climate runs did not agree on the sign of the changes. The meteorological parameters from both RACMO2 climate simulations differ considerably from those of the reanalysis-driven simulation for a present-day climate period. These differences have a substantial impact on the simulated PM10 concentrations and also affect the urban increment. Both model approaches presented in this study are useful tools to investigate the impact of a changing climate on PM concentrations but due to considerable weaknesses in the model systems a qualitative rather than a quantitative interpretation of the simulation results is recommendable. An important point when investigating the impact of climate change on air quality with coupled model systems is to enhance the CTM model performance as function of meteorology.Die Luftqualität in einem Gebiet ist stark abhängig von den meteorologischen Bedingungen und ist somit auch sensitiv gegenüber Klimaänderungen. In dieser Arbeit wurden zwei verschiedene Ansätze verwendet, um den Einfluss von Klimaänderungen auf die Feinstaubkonzentration (PM10) in Europa und auf den PM10 Konzentrationsunterschied zwischen drei nord-west europäischen urbanen Agglomerationen und deren ländlichen Umgebungen (Stadt-Land Konzentrationsdifferenz) zu untersuchen. In einer ersten Studie wurde der Effekt der meteorologischen Bedingungen während einer synoptischen Situation aus der Vergangenheit, deren Auftreten in der Zukunft häufiger erwartet wird, auf die Luftqualität untersucht. Dafür wurden gemessene und mit den zwei Chemie-Transportmodellen (CTM) LOTOS-EUROS und REM/Calgrid simulierte PM10 Konzentrationen des extremen Sommers 2003 mit dem Sommermittel einer Fünfjahresperiode (2003-2008) verglichen. In einer zweiten Studie wurden drei Langzeitsimulationen mit dem off-line gekoppelten Modellsystem RACMO2 (regional Klimamodelle) – LOTOS-EUROS (CTM) durchgeführt. Als Randbedingungen für das RACMO2 Modell dienten dabei Simulationen von zwei Globalmodellen (Szenario-Läufe) sowie Reanalysedaten. Motiviert durch Ergebnisse der ersten Studien, wurde außerdem die Sensitivität von Modellsimulationen mit dem LOTOS- EUROS gegenüber der zeitlichen Beschreibung von anthropogenen Emissionen mit detaillierteren Zeitprofielen untersucht. Für den Sommer 2003 wurden im Vergleich zu dem Fünfjahres-Sommermittel verbreitet erhöhte PM10 Konzentrationen an Stationen in Europa gemessen. Untersuchungen des Einflusses von Klimawandel auf die Luftqualität mit einem numerischen Modellsystem setzt eine gute Beschreibung von Meteorologie-abhängigen Prozessen im CTM voraus. Beide CTMs unterschätzen jedoch den gemessenen PM10 Anstieg im Sommer 2003 sowie den beobachteten Anstieg von PM10 Konzentration unter Bedingung mit extremen Temperaturen im Allgemeinen. Hauptursachen können in fehlenden jedoch wichtigen PM10 Komponenten und Emissionsquellen sowie Unsicherheiten darin gefunden werden. Des Weiteren ist eine Abhängigkeit der anthropogenen Emissionen von der Meteorologie in den Modellen nicht berücksichtigt, dies könnte jedoch zu einer erhöhten Modellgüte führen wie Ergebnisse der Sensitivitätsstudie mit dem LOTOS-EUROS zeigen. Die Auswirkungen von Klimaänderung auf die Konzentration von PM10 und auf die Stadt-Land Konzentrationsdifferenz ist in beiden, mit dem RACMO2 – LOTOS-EUROS Modellsystem durchgeführten, Szenario-Läufen gering. Es wurden sowohl positive als auch negative Abweichungen gefunden und für viele Gebiete weisen die Abweichungen der beiden Klimaläufe unterschiedliche Vorzeichen auf. Abhängig von der Jahreszeit und der Region unterscheiden sich die meteorologischen Parameter der beiden RACMO2-Klimasimulationen von der RACMO2 – Reanalyse Simulation. Dies hat einen erheblichen Einfluss auf die simulierten PM10 Konzentrationen und den Stadt-Land Konzentrationsunterschied. Beide hier verwendeten Modellansätze sind geeignete Methode um den Einfluss von Klimaänderungen auf Feinstaubkonzentrationen zu untersuchen. Allerdings weisen die verwendeten Modelle (Klimamodelle, CTM) beträchtliche Schwächen in diesem Kontext auf. Daher ist eine qualitative anstatt einer quantitativen Interpretation der Modellergebnisse empfehlenswert

    Glutamic acid decarboxylase antibody-associated neurological syndromes: Clinical and antibody characteristics and therapy response

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    Background: Antibodies against glutamic acid decarboxylase (GAD-abs) at high serum levels are associated with diverse autoimmune neurological syndromes (AINS), including cerebellar ataxia, epilepsy, limbic encephalitis and stiff-person syndrome. The impact of low serum GAD-ab levels in patients with suspected AINS remains controversial. Specific intrathecal GAD-ab synthesis may serve as a marker for GAD-ab-associated nervous system autoimmunity. We present characteristics of a multicentric patient cohort with suspected AINS associated with GAD antibodies (SAINS-GAD+) and explore the relevance of serum GAD-ab levels and intrathecal GAD-ab synthesis. Methods: All patients with SAINS-GAD+ included in the registry of the German Network for Research on Autoimmune Encephalitis (GENERATE) from 2011 to 2019 were analyzed. High serum GAD-ab levels were defined as RIA>2000 U/mL, ELISA>1000 U/mL, or as a positive staining pattern on cell-based assays. Results: One-hundred-one patients were analyzed. In descending order they presented with epilepsy/limbic encephalitis (39%), cerebellar ataxia (28%), stiff person syndrome (22%), and overlap syndrome (12%). Immunotherapy was administered in 89% of cases with improvements in 46%. 35% of SAINS-GAD+ patients had low GAD-ab serum levels. Notably, unmatched oligoclonal bands in CSF but not in serum were more frequent in patients with low GAD-ab serum levels. GAD-ab-levels (high/low) and intrathecal GAD-ab synthesis (present or not) did not impact clinical characteristics and outcome. Conclusions: Overall, immunotherapy in SAINS-GAD+ was moderately effective. Serum GAD-ab levels and the absence or presence of intrathecal GAD-ab synthesis did not predict clinical characteristics or outcomes in SAINS-GAD+. The detection of unmatched oligoclonal bands might outweigh low GAD-ab serum levels

    Curriculum vitae of the LOTOS–EUROS (v2.0) chemistry transport model

    No full text
    The development and application of chemistry transport models has a long tradition. Within the Netherlands the LOTOS–EUROS model has been developed by a consortium of institutes, after combining its independently developed predecessors in 2005. Recently, version 2.0 of the model was released as an open-source version. This paper presents the curriculum vitae of the model system, describing the model's history, model philosophy, basic features and a validation with EMEP stations for the new benchmark year 2012, and presents cases with the model's most recent and key developments. By setting the model developments in context and providing an outlook for directions for further development, the paper goes beyond the common model description. With an origin in ozone and sulfur modelling for the models LOTOS and EUROS, the application areas were gradually extended with persistent organic pollutants, reactive nitrogen, and primary and secondary particulate matter. After the combination of the models to LOTOS–EUROS in 2005, the model was further developed to include new source parametrizations (e.g. road resuspension, desert dust, wildfires), applied for operational smog forecasts in the Netherlands and Europe, and has been used for emission scenarios, source apportionment, and long-term hindcast and climate change scenarios. LOTOS–EUROS has been a front-runner in data assimilation of ground-based and satellite observations and has participated in many model intercomparison studies. The model is no longer confined to applications over Europe but is also applied to other regions of the world, e.g. China. The increasing interaction with emission experts has also contributed to the improvement of the model's performance. The philosophy for model development has always been to use knowledge that is state of the art and proven, to keep a good balance in the level of detail of process description and accuracy of input and output, and to keep a good record on the effect of model changes using benchmarking and validation. The performance of v2.0 with respect to EMEP observations is good, with spatial correlations around 0.8 or higher for concentrations and wet deposition. Temporal correlations are around 0.5 or higher. Recent innovative applications include source apportionment and data assimilation, particle number modelling, and energy transition scenarios including corresponding land use changes as well as Saharan dust forecasting. Future developments would enable more flexibility with respect to model horizontal and vertical resolution and further detailing of model input data. This includes the use of different sources of land use characterization (roughness length and vegetation), detailing of emissions in space and time, and efficient coupling to meteorology from different meteorological models

    Seizure Semiology in Antibody-Associated Autoimmune Encephalitis

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    Kaaden T, Madlener M, Angstwurm K, et al. Seizure Semiology in Antibody-Associated Autoimmune Encephalitis. Neurology(R) neuroimmunology & neuroinflammation. 2022;9(6): e200034 .BACKGROUND AND OBJECTIVES: To assess seizure characteristics in antibody (ab)-associated autoimmune encephalitis (ab + AE) with the 3 most prevalent abs against N-methyl-d-aspartate receptor (NMDAR), leucine-rich glioma-inactivated protein 1 (LGI1), and glutamic acid decarboxylase (GAD).; METHODS: Multicenter nationwide prospective cohort study of the German Network for Research in Autoimmune Encephalitis.; RESULTS: Three hundred twenty patients with ab + AE were eligible for analysis: 190 NMDAR+, 89 LGI1+, and 41 GAD+. Seizures were present in 113 (60%) NMDAR+, 69 (78%) LGI1+, and 26 (65%) GAD+ patients and as leading symptoms for diagnosis in 53 (28%) NMDAR+, 47 (53%) LGI+, and 20 (49%) GAD+ patients. Bilateral tonic-clonic seizures occurred with almost equal frequency in NMDAR+ (38/51, 75%) and GAD+ (14/20, 70%) patients, while being less common in LGI1+ patients (27/59, 46%). Focal seizures occurred less frequently in NMDAR+ (67/113; 59%) than in LGI1+ (54/69, 78%) or in GAD+ patients (23/26; 88%). An aura with deja-vu phenomenon was nearly specific in GAD+ patients (16/20, 80%). Faciobrachial dystonic seizures (FBDS) were uniquely observed in LGI1+ patients (17/59, 29%). Status epilepticus was reported in one-third of NMDAR+ patients, but only rarely in the 2 other groups. The occurrence of seizures was associated with higher disease severity only in NMDAR+ patients.; DISCUSSION: Seizures are a frequent and diagnostically relevant symptom of ab + AE. Whereas NMDAR+ patients had few localizing semiological features, semiology in LGI1+ and GAD+ patients pointed toward a predominant temporal seizure onset. FBDS are pathognomonic for LGI1 + AE. Status epilepticus seems to be more frequent in NMDAR + AE. Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

    A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

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    Strippel C, Herrera-Rivero M, Wendorff M, et al. A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies. Brain: A Journal of Neurology . 2022: awac119.Autoimmune neurological syndromes (AINS) with autoantibodies against the 65  kDa isoform of the glutamic acid decarboxylase (GAD65) present with limbic encephalitis including temporal lobe seizures or epilepsy, cerebellitis with ataxia, and stiff-person-syndrome, or overlap forms. Anti-GAD65 autoantibodies are also detected in autoimmune diabetes mellitus, which has a strong genetic susceptibility conferred by human leukocyte antigen (HLA) and non-HLA genomic regions. We investigated the genetic predisposition in patients with anti-GAD65 AINS. We performed a genome-wide association study (GWAS) and an association analysis of the HLA region in a large German cohort of 1,214 individuals. These included 167 patients with anti-GAD65 AINS, recruited by the German Network for Research on Autoimmune Encephalitis (GENERATE), and 1,047 individuals without neurological or endocrine disease as population-based controls. Predictions of protein expression changes based on GWAS findings were further explored and validated in the CSF proteome of a virtually independent cohort of 10 patients with GAD65-AINS and 10 controls. Our GWAS identified 16 genome-wide significant (p90%) mapped to non-coding regions of the genome. Over 40% of the variants have known regulatory functions on the expression of 48 genes in disease relevant cells and tissues, mainly CD4+ T cells and the cerebral cortex. The annotation of epigenomic marks suggested specificity for neural and immune cells. A network analysis of the implicated protein-coding genes highlighted the role of protein kinase C beta (PRKCB) and identified an enrichment of numerous biological pathways participating in immunity and neural function. Analysis of the classical HLA alleles and haplotypes showed no genome-wide significant associations. The strongest associations were found for the DQA1*03:01-DQB1*03:02-DRB1*04:01HLA haplotype (p=4.39*10-4, OR=2.5, 95%CI= 1.499-4.157), and DRB1*04:01 allele (p=8.3*10-5, OR=2.4, 95%CI=1.548-3.682) identified in our cohort. As predicted, the CSF proteome showed differential levels of five proteins (HLA-A/B, C4A, ATG4D and NEO1) of eQTL genes from our GWAS in the CSF proteome of anti-GAD65 AINS. These findings suggest a strong genetic predisposition with direct functional implications for immunity and neural function in anti-GAD65 AINS, mainly conferred by genomic regions outside the classical HLA alleles. © The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain
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