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1.
Commun Biol ; 7(1): 811, 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38965360

RESUMO

Experimental autoimmune encephalomyelitis (EAE) is a demyelinating disease affecting the central nervous system (CNS) in animals that parallels several clinical and molecular traits of multiple sclerosis in humans. Herpes simplex virus type 1 (HSV-1) infection mainly causes cold sores and eye diseases, yet eventually, it can also reach the CNS, leading to acute encephalitis. Notably, a significant proportion of healthy individuals are likely to have asymptomatic HSV-1 brain infection with chronic brain inflammation due to persistent latent infection in neurons. Because cellular senescence is suggested as a potential factor contributing to the development of various neurodegenerative disorders, including multiple sclerosis, and viral infections may induce a premature senescence state in the CNS, potentially increasing susceptibility to such disorders, here we examine the presence of senescence-related markers in the brains and spinal cords of mice with asymptomatic HSV-1 brain infection, EAE, and both conditions. Across all scenarios, we find a significant increases of senescence biomarkers in the CNS with some differences depending on the analyzed group. Notably, some senescence biomarkers are exclusively observed in mice with the combined conditions. These results indicate that asymptomatic HSV-1 brain infection and EAE associate with a significant expression of senescence biomarkers in the CNS.


Assuntos
Encéfalo , Senescência Celular , Herpes Simples , Herpesvirus Humano 1 , Esclerose Múltipla , Animais , Camundongos , Encéfalo/virologia , Encéfalo/patologia , Encéfalo/metabolismo , Esclerose Múltipla/virologia , Esclerose Múltipla/patologia , Esclerose Múltipla/metabolismo , Herpesvirus Humano 1/fisiologia , Herpesvirus Humano 1/patogenicidade , Herpes Simples/virologia , Herpes Simples/patologia , Feminino , Camundongos Endogâmicos C57BL , Encefalomielite Autoimune Experimental/virologia , Encefalomielite Autoimune Experimental/patologia , Encefalomielite Autoimune Experimental/metabolismo , Fenótipo , Sistema Nervoso Central/virologia , Sistema Nervoso Central/metabolismo , Sistema Nervoso Central/patologia , Medula Espinal/virologia , Medula Espinal/metabolismo , Medula Espinal/patologia , Biomarcadores/metabolismo , Encefalite por Herpes Simples/virologia , Encefalite por Herpes Simples/patologia , Encefalite por Herpes Simples/metabolismo
2.
Front Endocrinol (Lausanne) ; 15: 1381180, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38752179

RESUMO

Background: The prevalence of autism spectrum disorder (ASD) has significantly risen in the past three decades, prompting researchers to explore the potential contributions of environmental factors during pregnancy to ASD development. One such factor of interest is gestational hypothyroxinemia (HTX), a frequent condition in pregnancy associated with cognitive impairments in the offspring. While retrospective human studies have linked gestational HTX to autistic traits, the cellular and molecular mechanisms underlying the development of ASD-like phenotypes remain poorly understood. This study used a mouse model of gestational HTX to evaluate ASD-like phenotypes in the offspring. Methods: To induce gestational HTX, pregnant mice were treated with 2-mercapto-1-methylimidazole (MMI), a thyroid hormones synthesis inhibitor, in the tap-drinking water from embryonic days (E) 10 to E14. A separate group received MMI along with a daily subcutaneous injection of T4, while the control group received regular tap water during the entire pregnancy. Female and male offspring underwent assessments for repetitive, anxious, and social behaviors from postnatal day (P) 55 to P64. On P65, mice were euthanized for the evaluation of ASD-related inflammatory markers in blood, spleen, and specific brain regions. Additionally, the expression of glutamatergic proteins (NLGN3 and HOMER1) was analyzed in the prefrontal cortex and hippocampus. Results: The HTX-offspring exhibited anxious-like behavior, a subordinate state, and impaired social interactions. Subsequently, both female and male HTX-offspring displayed elevated proinflammatory cytokines in blood, including IL-1ß, IL-6, IL-17A, and TNF-α, while only males showed reduced levels of IL-10. The spleen of HTX-offspring of both sexes showed increased Th17/Treg ratio and M1-like macrophages. In the prefrontal cortex and hippocampus of male HTX-offspring, elevated levels of IL-17A and reduced IL-10 were observed, accompanied by increased expression of hippocampal NLGN3 and HOMER1. All these observations were compared to those observed in the Control-offspring. Notably, the supplementation with T4 during the MMI treatment prevents the development of the observed phenotypes. Correlation analysis revealed an association between maternal T4 levels and specific ASD-like outcomes. Discussion: This study validates human observations, demonstrating for the first time that gestational HTX induces ASD-like phenotypes in the offspring, highlighting the need of monitoring thyroid function during pregnancy.


Assuntos
Transtorno do Espectro Autista , Efeitos Tardios da Exposição Pré-Natal , Animais , Feminino , Gravidez , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/metabolismo , Camundongos , Masculino , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Fenótipo , Comportamento Animal , Hipotireoidismo/metabolismo , Tiroxina/sangue , Biomarcadores/metabolismo , Camundongos Endogâmicos C57BL , Complicações na Gravidez/metabolismo , Modelos Animais de Doenças , Inflamação/metabolismo , Comportamento Social
3.
Front Endocrinol (Lausanne) ; 14: 1192216, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37455925

RESUMO

Thyroid disorders are clinically characterized by alterations of L-3,5,3',5'-tetraiodothyronine (T4), L-3,5,3'-triiodothyronine (T3), and/or thyroid-stimulating hormone (TSH) levels in the blood. The most frequent thyroid disorders are hypothyroidism, hyperthyroidism, and hypothyroxinemia. These conditions affect cell differentiation, function, and metabolism. It has been reported that 40% of the world's population suffers from some type of thyroid disorder and that several factors increase susceptibility to these diseases. Among them are iodine intake, environmental contamination, smoking, certain drugs, and genetic factors. Recently, the intestinal microbiota, composed of more than trillions of microbes, has emerged as a critical player in human health, and dysbiosis has been linked to thyroid diseases. The intestinal microbiota can affect host physiology by producing metabolites derived from dietary fiber, such as short-chain fatty acids (SCFAs). SCFAs have local actions in the intestine and can affect the central nervous system and immune system. Modulation of SCFAs-producing bacteria has also been connected to metabolic diseases, such as obesity and diabetes. In this review, we discuss how alterations in the production of SCFAs due to dysbiosis in patients could be related to thyroid disorders. The studies reviewed here may be of significant interest to endocrinology researchers and medical practitioners.


Assuntos
Microbioma Gastrointestinal , Humanos , Microbioma Gastrointestinal/fisiologia , Disbiose , Glândula Tireoide/metabolismo , Ácidos Graxos Voláteis/metabolismo , Intestinos/microbiologia
4.
Am J Perinatol ; 40(13): 1421-1424, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-34464987

RESUMO

OBJECTIVE: This study aimed to identify extremely premature infants (< 31 weeks of gestation and/or <1,500 g) affected by congenital hypothyroidism (CH) with delayed elevation of thyrotropin (TSH) and to evaluate the detection strategy for this pathology in our reference screening population. STUDY DESIGN: A descriptive and retrospective study was carried out with samples collected from western Andalusia and the autonomous city of Ceuta. RESULTS: This protocol allowed us to detect six neonates with delayed TSH elevation. One of them, due to serious heart problems, died without being able to confirm CH. In two neonates, however, it was possible to detect CH, another two presented a persistent TSH elevation but normal free T4, and another one presented a temporary TSH elevation. CONCLUSION: It is essential to repeat the CH screening in extremely premature infants, not only at the age of 15 days but also with a third sample at the moment of hospital discharge to detect cases with delayed TSH elevation. KEY POINTS: · The Newborn Screening Programs are an essential activity of preventive medicine.. · Extremely preterm infants have a very high risk of CH.. · Optimal management of thyroid dysfunction in this population remains to be established..


Assuntos
Hipotireoidismo Congênito , Lactente , Recém-Nascido , Humanos , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Lactente Extremamente Prematuro , Estudos Retrospectivos , Tireotropina , Triagem Neonatal/métodos , Tiroxina
5.
Int J Mol Sci ; 23(13)2022 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-35806081

RESUMO

Multiple sclerosis (MS) is an autoimmune disease characterized by a robust inflammatory response against myelin sheath antigens, which causes astrocyte and microglial activation and demyelination of the central nervous system (CNS). Multiple genetic predispositions and environmental factors are known to influence the immune response in autoimmune diseases, such as MS, and in the experimental autoimmune encephalomyelitis (EAE) model. Although the predisposition to suffer from MS seems to be a multifactorial process, a highly sensitive period is pregnancy due to factors that alter the development and differentiation of the CNS and the immune system, which increases the offspring's susceptibility to develop MS. In this regard, there is evidence that thyroid hormone deficiency during gestation, such as hypothyroidism or hypothyroxinemia, may increase susceptibility to autoimmune diseases such as MS. In this review, we discuss the relevance of the gestational period for the development of MS in adulthood.


Assuntos
Encefalomielite Autoimune Experimental , Esclerose Múltipla , Animais , Sistema Nervoso Central , Feminino , Esclerose Múltipla/etiologia , Bainha de Mielina , Gravidez , Fatores de Risco
6.
Clín. investig. arterioscler. (Ed. impr.) ; 33(5): 217-223, Sep-Oct. 2021. mapas, tab
Artigo em Espanhol | IBECS | ID: ibc-221045

RESUMO

La hipercolesterolemia severa es un importante factor de riesgo cardiovascular. Su detección precoz y tratamiento puede reducir la incidencia de las enfermedades cardiovasculares. Dada la alta prevalencia de hipercolesterolemia en Andalucía, el desarrollo de una estrategia oportunista para su detección en atención primaria puede ser una medida eficiente. Objetivo: Identificar pacientes en atención primaria con hipercolesterolemias severas que puedan incrementar su riesgo cardiovascular mediante una consulta del colesterol- LDL al sistema informático de laboratorio. Material y métodos: Estudio observacional, retrospectivo, multicéntrico, en 16 hospitales de Andalucía y Ceuta. Se adquirieron datos analíticos anonimizados de los diferentes sistemas informáticos de laboratorio del año 2018 y exclusivamente del Hospital Virgen Macarena para el año 2019. Resultados: De un total de 1.969.035 determinaciones≥18 años se detectaron 2.791 pacientes (0,14%) con colesterol-LDL>250mg/dl, y en menores de 18 años, sobre un total de 2.327.211 determinaciones estudiadas, se detectaron 3.804 pacientes (0,16%) con colesterol-LDL>135mg/dl. La mayor incidencia de posibles hipercolesterolemias genéticas en adultos correspondió a la provincia Sevilla con 23,6 casos/1.000 determinaciones, mientras que en menores la mayor incidencia correspondió a la provincia de Cádiz, con 75 posibles casos/1.000 determinaciones. Se observa un triángulo geográfico de mayor prevalencia entre las provincias de Sevilla, Huelva y Cádiz. Conclusiones: El desarrollo de una estrategia oportunista mediante consulta informática del colesterol-LDL en atención primaria detecta un gran número de sujetos con hipercolesterolemias severas que se podrían beneficiar de una intervención precoz.(AU)


Severe hypercholesterolaemia is a major cardiovascular risk factor. Early detection and treatment can reduce the incidence of cardiovascular disease. Given the high prevalence of hypercholesterolaemia in Andalusia, the development of a screening strategy for its detection in Primary Care may be an efficient measure. Objective: To identify patients in Primary Care with severe hypercholesterolaemia that may increase their cardiovascular risk by reviewing LDL-cholesterol results in computerised laboratory systems. Material and methods: Observational, retrospective, multi-centre study in 16 hospitals in Andalusia and Ceuta. Anonymous analytical data were acquired from the different laboratory computer systems for the year 2018, and exclusively from Macarena Hospital for the year 2019. Results: From a total of 1,969,035 determinations on≥18 years old, 2,791 patients (0.14%) were detected with LDL-cholesterol>250mg/dl and from a total of 2.327.211 determinations studied in children under 18 years old, 3,804 patients (0.16%) were detected with LDL-cholesterol>135mg/dL. The highest incidence of possible genetic hypercholesterolaemia in adults corresponded to the province of Seville with 23.6 cases/1,000 determinations, while in minors, the highest incidence corresponded to the province of Cadiz with 75 possible cases/1,000 determinations. A geographical triangle of greater prevalence is observed between the provinces of Seville, Huelva and Cadiz. Conclusions: The development of a screening strategy using a computerised review of LDL-cholesterol in Primary Care detects a large number of subjects with severe hypercholesterolaemia that could benefit from an early intervention.(AU)


Assuntos
Humanos , Hipercolesterolemia , Atenção Primária à Saúde , Hospitais , Laboratórios , Dislipidemias , Prevalência , Fatores de Risco , Espanha , Estudos Retrospectivos , Estudos Transversais
7.
J Fish Dis ; 44(10): 1481-1490, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34061372

RESUMO

The present study reports on the first isolation of Tenacibaculum maritimum in rainbow trout (Oncorhynchus mykiss) farmed in Chile. In March 2020, two cages raising rainbow trout (~250 g) in the Los Lagos Region suffered a disease outbreak. In total, 17,554 fish died (3.5%-4.8% accumulated mortality). Microbiological analysis of the diseased fish obtained two representative isolates (i.e. Tm-035 and Tm-036). These were obtained from the external gross skin lesions-typical of tenacibaculosis-of two fish. Phenotyping, PCR tests and sequencing of the 16S rRNA and housekeeping genes confirmed the isolates as T. maritimum. The pathogenic potential of Tm-035 was further assessed by bath challenging Atlantic salmon (Salmo salar), which killed 70 ± 15% of fish within 11 days. Dead fish presented the same external clinical signs as did the farmed rainbow trout specimens. This research further broadens the known host distribution of this pathogen. Furthermore, the virulence experiments demonstrated that T. maritimum does not have a specific host. Additional studies are needed to evaluate the risk of T. maritimum for the O. mykiss farming industry.


Assuntos
Doenças dos Peixes/microbiologia , Infecções por Flavobacteriaceae/veterinária , Oncorhynchus mykiss , Tenacibaculum/isolamento & purificação , Animais , Chile , Infecções por Flavobacteriaceae/microbiologia
8.
Clin Investig Arterioscler ; 33(5): 217-223, 2021.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33820671

RESUMO

Severe hypercholesterolaemia is a major cardiovascular risk factor. Early detection and treatment can reduce the incidence of cardiovascular disease. Given the high prevalence of hypercholesterolaemia in Andalusia, the development of a screening strategy for its detection in Primary Care may be an efficient measure. OBJECTIVE: To identify patients in Primary Care with severe hypercholesterolaemia that may increase their cardiovascular risk by reviewing LDL-cholesterol results in computerised laboratory systems. MATERIAL AND METHODS: Observational, retrospective, multi-centre study in 16 hospitals in Andalusia and Ceuta. Anonymous analytical data were acquired from the different laboratory computer systems for the year 2018, and exclusively from Macarena Hospital for the year 2019. RESULTS: From a total of 1,969,035 determinations on≥18 years old, 2,791 patients (0.14%) were detected with LDL-cholesterol>250mg/dl and from a total of 2.327.211 determinations studied in children under 18 years old, 3,804 patients (0.16%) were detected with LDL-cholesterol>135mg/dL. The highest incidence of possible genetic hypercholesterolaemia in adults corresponded to the province of Seville with 23.6 cases/1,000 determinations, while in minors, the highest incidence corresponded to the province of Cadiz with 75 possible cases/1,000 determinations. A geographical triangle of greater prevalence is observed between the provinces of Seville, Huelva and Cadiz. CONCLUSIONS: The development of a screening strategy using a computerised review of LDL-cholesterol in Primary Care detects a large number of subjects with severe hypercholesterolaemia that could benefit from an early intervention.


Assuntos
Hipercolesterolemia , Adolescente , Adulto , Criança , LDL-Colesterol , Hospitais , Humanos , Hipercolesterolemia/epidemiologia , Prevalência , Estudos Retrospectivos , Fatores de Risco
9.
Biochem Med (Zagreb) ; 31(2): 020703, 2021 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-33927553

RESUMO

INTRODUCTION: Total bilirubin tests are highly demanded in clinical laboratories. Since icteric index (I-index) has zero cost, we aimed to evaluate its clinical utility and cost-effectiveness to determine if total bilirubin is necessary to be tested. We took into account if haemolysis could interfere to icteric index determination. MATERIAL AND METHODS: Retrospectively we reviewed I-index results in two cohorts (43,372 and 8507 non-haemolysed and haemolysed samples, respectively). All determinations were done using Alinity c chemistry analysers (Abbott Diagnostics). Receiver operating characteristic (ROC) curve was used to determine the optimal index cut-off to discriminate between normal and abnormal bilirubin concentration (20.5 µmol/L). RESULTS: The ROC curve analysis suggested 21.4 µmol/L as the optimal I-index cut-off but differences in sensitivity and specificity were detected between patient derivation. For rejecting purpose, 15.4 µmol/L and 17.1 µmol/L I-index thresholds were selected based on patient derivation (inpatients and emergency room; and primary care and outpatients, respectively) with 97% sensitivity and 0.25% false negative results. Sensitivity was much lower in haemolysed samples. We selected 34.2 µmol/L I-index as threshold to detect hyperbilirubinemia with 99.7% specificity and 0.26% false positive results, independent of haemolysis. With the icteric index cut-offs proposed, we would save 66% of total bilirubin requested and analyse total bilirubin in around 2% of samples without total bilirubin requested. CONCLUSIONS: This study supports the use of I-index to avoid bilirubin determination and to identify patients with hyperbilirubinemia. This work considers that the economic and test savings could help to increase the efficiency in clinical laboratories.


Assuntos
Bilirrubina/sangue , Hemólise , Hiperbilirrubinemia/sangue , Laboratórios Hospitalares , Feminino , Humanos , Masculino , Estudos Retrospectivos
10.
Rev Esp Salud Publica ; 952021 Feb 23.
Artigo em Espanhol | MEDLINE | ID: mdl-33619242

RESUMO

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.


Los Programas de Cribado Neonatal (PCN) nacen en España en Granada en el año 1968. Posteriormente, y hasta los años 80, se fueron desarrollando en torno al llamado "Plan Nacional de Prevención de la Subnormalidad" con una cobertura cercana al 30% de los recién nacidos españoles. A partir de 1982, con el inicio de la gestión de la sanidad a las comunidades autónomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que éstos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansión no es hasta el inicio de la década de los 90 cuando se consigue una cobertura próxima al 100% de los RN en España. Los PCN fueron creciendo de forma muy asimétrica en las diferentes CCAA y en los años 2005 y 2006 las Sociedades Científicas SEQC (Sociedad Española de Química Clínica) y AECNE (Asociación Española de Cribado Neonatal), con la coordinación del Área de Promoción de la Salud de la Dirección General de Salud Pública, recopilaron la información y elaboraron un informe, sobre los PCN en España para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobó las siete enfermedades que debían formar parte del panel de detección de los PCN territoriales, primer paso hacia la armonización de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad.


Assuntos
Triagem Neonatal/história , Triagem Neonatal/organização & administração , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Espanha
11.
Rev Esp Salud Publica ; 942020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33323920

RESUMO

OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them.


OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. METODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen.


Assuntos
Anemia Falciforme/diagnóstico , Hipotireoidismo Congênito/diagnóstico , Fibrose Cística/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Anemia Falciforme/epidemiologia , Hipotireoidismo Congênito/epidemiologia , Fibrose Cística/epidemiologia , Diagnóstico Precoce , Humanos , Recém-Nascido , Estudos Longitudinais , Erros Inatos do Metabolismo/epidemiologia , Prevalência , Estudos Retrospectivos , Espanha/epidemiologia
12.
Rev. esp. salud pública ; 94: 0-0, 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-200481

RESUMO

OBJETIVO: La principal justificación del trabajo fue describir nuestra experiencia en cribado neonatal y definir la prevalencia de cada una de las enfermedades incluidas en el programa de cribado neonatal de Andalucía, entre las que se encuentran el hipotiroidismo congénito, cribado ampliado expandido (aminoacidopatías, defectos de la beta-oxidación mitocondrial y acidurias orgánicas), fibrosis quística y enfermedad de células falciformes. MÉTODOS: El estudio se realizó en la Unidad del Laboratorio de Metabolopatías del Hospital Universitario Virgen del Rocío de Sevilla con muestras de recién nacidos de Andalucía Occidental (Cádiz, Córdoba, Huelva y Sevilla) y la ciudad autónoma de Ceuta. Para descartar hipotiroidismo congénito y cribado ampliado expandido se estudiaron un total de 435.141 recién nacidos, con fecha de inicio el 1 de abril de 2009. El cribado de fibrosis quística comenzó el 1 de mayo de 2011, siendo estudiados un total de 378.306 recién nacidos. Por último, el 26 de noviembre de 2018 se incorporó el cribado de anemia de células falciformes, que comprendió un total de 55.576 recién nacidos. La fecha fin de estudio fue el 31 de diciembre de 2019 para todas las patologías descritas anteriormente. El análisis estadístico se realizó usando el software IBM SPSS (versión 22, SPSS INC., EEUU). RESULTADOS: El estudio reveló una prevalencia de 1:1.565 recién nacidos para hipotiroidismo congénito, 1:1.532 para cribado ampliado expandido, 1:6.878 para fibrosis quística y 1:11.115 recién nacidos para enfermedad de células falciformes. CONCLUSIONES: El programa de cribado neonatal permite que se beneficien gran número de recién nacidos en la detección precoz de determinadas enfermedades congénitas graves y, con ello, mejora la morbimortalidad de aquellos que las padecen


OBJECTIVE: The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia. METHODS: The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA). RESULTS: The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease. CONCLUSIONS: The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them


Assuntos
Humanos , Recém-Nascido , Anemia Falciforme/diagnóstico , Hipotireoidismo Congênito/diagnóstico , Fibrose Cística/diagnóstico , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Anemia Falciforme/epidemiologia , Hipotireoidismo Congênito/epidemiologia , Fibrose Cística/epidemiologia , Diagnóstico Precoce , Estudos Longitudinais , Erros Inatos do Metabolismo/epidemiologia , Prevalência , Estudos Retrospectivos , Espanha/epidemiologia
13.
Reumatol. clín. (Barc.) ; 15(6): e111-e113, nov.-dic. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-189665

RESUMO

Las miopatías inflamatorias idiopáticas son un grupo heterogéneo de miopatías potencialmente tratables. Se clasifican en 4 subtipos: dermatomiositis, polimiositis, miositis autoinmune necrosante y miositis por cuerpos de inclusión, en función de las características clínicas e histológicas. Los anticuerpos asociados a miositis y los autoanticuerpos específicos de miositis se encuentran frecuentemente en pacientes con miopatías inflamatorias, siendo útiles en el diagnóstico y clasificación. El anticuerpo anti-histidil tRNA sintetasa es el más prevalente y el más específico para polimiositis. El anticuerpo de partícula de reconocimiento de señal es también un autoanticuerpo especıfico para polimiositis, pero más infrecuente, y raramente se encuentra en pacientes que presentan otros autoanticuerpos específicos para miositis. En este trabajo se presenta un paciente con polimiositis en el que coexisten los 2 autoanticuerpos en el suero, lo que se considera una situación clínica extremadamente rara. Aquí analizamos la evolución clínica y hallazgos para examinar el efecto de la coexistencia y la posible interacción sobre el pronóstico


Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Autoanticorpos/sangue , Histidina-tRNA Ligase/imunologia , Polimiosite/sangue , Partícula de Reconhecimento de Sinal/imunologia
14.
Reumatol Clin (Engl Ed) ; 15(6): e111-e113, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29396013

RESUMO

Idiopathic inflammatory myopathies are a heterogeneous group of potentially treatable myopathies. They are classified, on the basis of clinical and histopathological features, into four subtypes: dermatomyositis, polymyositis, necrotizing autoimmune myositis and inclusion-body myositis. Myositis-associated antibodies and myositis-specific autoantibodies are frequently found in patients with idiopathic inflammatory myopathies, and are useful in the diagnosis and classification. Anti-histidyl transfer RNA synthetase antibody is the most widely prevalent and is highly specific for polymyositis. Signal recognition particle antibody is also a specific autoantibody for polymyositis, but it is infrequent and rarely found in patients having other myositis-specific autoantibodies. We present a man with polymyositis who had both antibodies in serum, which is considered an extremely rare clinical situation. Here we analyze the clinical course and findings, and examine the effect of the coexistence and possible interaction on prognosis.


Assuntos
Autoanticorpos/sangue , Histidina-tRNA Ligase/imunologia , Polimiosite/sangue , Partícula de Reconhecimento de Sinal/imunologia , Humanos , Masculino , Pessoa de Meia-Idade
15.
Rev. colomb. anestesiol ; 46(3): 266-267, July-Sept. 2018. graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-959817

RESUMO

Letter to the Editor


Assuntos
Humanos
16.
Zootaxa ; 4379(4): 539-555, 2018 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-29689965

RESUMO

We describe a new species of Liolaemus of the L. alticolor-bibronii group of the subgenus Liolaemus sensu stricto. We studied meristic, morphometric and qualitative pattern characters. Statistical tests were performed in order to evaluate morphological differences among the candidate species and the most closely geographically distributed species. Molecular analyses of Cyt-b mitochondrial gene were performed in order to estimate the position of the new species in relation to other taxa. We also recorded natural history data such as habitat, behavior, reproductive state, diet, and body temperature. Liolaemus absconditus sp. nov. differs from other species of Liolaemus in presenting a distinct combination of morphological character states of lepidosis and color pattern, being phylogenetically close to Liolaemus tandiliensis, Liolaemus gracilis and Liolaemus saxatilis. The new species is a saxicolous and endemic lizard of the Tandilia Mountain Range System of Buenos Aires Province.


Assuntos
Lagartos , Animais , Argentina , Ecossistema , Genes Mitocondriais , Filogenia
17.
Reumatol. clín. (Barc.) ; 13(4): 197-200, jul.-ago. 2017. tab
Artigo em Inglês | IBECS | ID: ibc-164334

RESUMO

Background. Axial spondyloarthritis (axSpA) is characterized by new bone formation. The complex systems underlying this process involve Wnt-signaling pathway. It has been observed that serum levels of dickkopf-1 (DKK-1), an important inhibitor of Wnt-signaling, are decreased in patients with axSpA. However, these data are from studies including only patients with long-standing disease. The aim of this study is to investigate if symptom duration influences on serum DKK-1 levels in patients with axSpA. Material and methods. A cross-sectional study including consecutive patients with axSpA (ASAS criteria) naïve for anti-TNF therapy. Collected data included demographic and disease characteristics, time since first symptom onset, assessment of disease activity and function, and determination of DKK-1 serum levels. Patients were classified as early axSpA (symptom duration ≤5 years) and established axSpA (>5 years). Linear regression models were employed to investigate the variables related to DKK-1 serum levels. Results. In total, 90 patients were included. Sixty-eight patients had early axSpA and 22 had established disease. Serum levels of DKK-1 were significantly higher in patients with early axSpA compared with established axSpA (22.1±12.6 vs 16.4±10.7pM; p=0.04). Among all tested variables, only symptom duration was significantly and inversely correlated with DKK-1 serum levels (beta: −0.041; p=0.01). Conclusion. Serum DKK-1 levels in axSpA depend on disease duration. As disease duration increases, DKK-1 serum levels decrease. Based on this, an intensive treatment at early stages of the disease could have a better outcome on inhibiting/slowing radiographic progression in patients with axSpA (AU)


Objetivo. Espondiloartritis axial (EsPax) se caracteriza por nueva formación ósea. El complejo sistema que subyace este proceso incluye la vía de señal Wnt. Se ha demostrado que niveles séricos de dickkopf-1 (DKK-1), un importante inhibidor de la vía de señal Wnt, está disminuidos en pacientes con EsPax. Sin embargo, estos datos proceden exclusivamente de pacientes con EsPax de larga duración. El objetivo de este estudio es investigar si la duración de la enfermedad influye en niveles séricos de DKK-1 en pacientes con EsPax. Material y métodos. Estudio transversal en pacientes con EsPax sin terapia anti-TNF. Se recogieron datos demográficos y de la enfermedad, y se determinaron niveles de DKK-1 séricos en la misma visita. Los pacientes fueron clasificados en base a la duración de síntomas en EsPax precoz (≤5 años) y establecida (>5 años). Se emplearon modelos de regresión lineal para investigar las variables asociadas con los niveles de DKK-1. Resultados. Se incluyeron 90 pacientes, 68 con EsPax precoz y 22 con EsPax establecida. Los niveles de DKK-1 fueron superiores en EsPax precoz comparado con EsPax establecida (22.1±12.6 vs 16.4±10.7pM; p=0.04). De todas las variables, sólo la duración de síntomas se asoció significativamente con DKK-1 (beta: −0.041; p=0.01). Conclusiones. Los niveles séricos de DKK-1 en EsPax, dependen de la duración de la enfermedad. A medida que la duración de la enfermedad aumenta, niveles séricos de DKK-1 disminuye. Por lo tanto, el tratamiento intensivo en estadios tempranos de la enfermedad podría tener un mejor resultado en inhibir/disminuir la progresión radiológica en pacientes con EsPax (AU)


Assuntos
Humanos , Espondilartrite/sangue , Espondilartrite/epidemiologia , Proteínas Morfogenéticas Ósseas/análise , Proteínas Morfogenéticas Ósseas/sangue , Estudos Transversais/métodos , Estudos Transversais , Modelos Lineares
18.
J Wildl Dis ; 53(3): 437-446, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28318382

RESUMO

Physiologic traits are promising indicators of population health in the face of rapidly changing environments. We obtained values of diverse physiologic parameters for Two-banded Plovers (Charadrius falklandicus) in coastal sites in Patagonia, Argentina, with the objectives of determining the timeline in which these parameters become affected by the stress of capture and handling and of obtaining reference values for future monitoring of these populations. We analyzed packed cell volume, white blood cell profile, heterophil/lymphocyte ratio, bacterial agglutination titer, and total protein, glucose, triglyceride, and cholesterol levels in apparently healthy birds. Glucose, total white blood cell count, lymphocytes, and eosinophil levels showed changes with handling times >60 min after capture. The remaining parameters did not manifest significant alterations in response to capture and handling of up to 232 min (average=105.2, SD=56.7). Therefore, although researchers should attempt to obtain blood samples as soon as possible after capture, inclusion of physiologic parameters in monitoring studies of species not easily sampled in a few minutes, such as Two-banded Plovers and other shorebird species during migration, should not be discouraged. Here we provide a physiologic report for the species that can be considered as reference values during the nonbreeding season at Patagonian coastal sites.


Assuntos
Migração Animal , Charadriiformes/fisiologia , Animais , Argentina , Aves , Hematócrito , Valores de Referência
19.
Bioanalysis ; 9(5): 435-445, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28134563

RESUMO

AIM: The objective was to compare Zenit RA chemiluminescent immunoassay (CLIA) from Menarini Diagnostics and ELISA from INOVA Diagnostics for the presence of specific anti-Ro/SS-A, anti-La/SS-B, anti-U1snRNP, anti-Sm, anti-Scl-70, anti-Jo-1 antibodies. Results/methodology: We studied 501 samples (178 connective autoimmune disease, 150 other autoimmune or inflammatory disease and 173 other disease or healthy). All samples were analyzed using CLIA and ELISA. The Kappa agreement was excellent for anti-SSA/Ro (0.864), good for anti-SSB/La (0.735), anti-Scl-70 (0.685) and ENA-screening (0.778), moderate for anti-RNP (0.563) and bad for anti-Sm (0.266) and anti-Jo-1 (0.243). Different combination of cut-off improved the specificity and agreement. CONCLUSION: Zenit RA CLIA for detecting autoantibodies, provides a simple, useful and accurate tool.


Assuntos
Anticorpos Antinucleares/análise , Imunoensaio , Medições Luminescentes , Doenças Autoimunes/diagnóstico , Estudos de Casos e Controles , DNA Topoisomerases Tipo I , Ensaio de Imunoadsorção Enzimática , Humanos , Modelos Logísticos , Proteínas Nucleares/imunologia , Ribonucleoproteínas Nucleares Pequenas/imunologia
20.
Reumatol Clin ; 13(4): 197-200, 2017.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27297260

RESUMO

BACKGROUND: Axial spondyloarthritis (axSpA) is characterized by new bone formation. The complex systems underlying this process involve Wnt-signaling pathway. It has been observed that serum levels of dickkopf-1 (DKK-1), an important inhibitor of Wnt-signaling, are decreased in patients with axSpA. However, these data are from studies including only patients with long-standing disease. The aim of this study is to investigate if symptom duration influences on serum DKK-1 levels in patients with axSpA. MATERIAL AND METHODS: A cross-sectional study including consecutive patients with axSpA (ASAS criteria) naïve for anti-TNF therapy. Collected data included demographic and disease characteristics, time since first symptom onset, assessment of disease activity and function, and determination of DKK-1 serum levels. Patients were classified as early axSpA (symptom duration ≤5 years) and established axSpA (>5 years). Linear regression models were employed to investigate the variables related to DKK-1 serum levels. RESULTS: In total, 90 patients were included. Sixty-eight patients had early axSpA and 22 had established disease. Serum levels of DKK-1 were significantly higher in patients with early axSpA compared with established axSpA (22.1±12.6 vs 16.4±10.7pM; p=0.04). Among all tested variables, only symptom duration was significantly and inversely correlated with DKK-1 serum levels (beta: -0.041; p=0.01). CONCLUSION: Serum DKK-1 levels in axSpA depend on disease duration. As disease duration increases, DKK-1 serum levels decrease. Based on this, an intensive treatment at early stages of the disease could have a better outcome on inhibiting/slowing radiographic progression in patients with axSpA.


Assuntos
Peptídeos e Proteínas de Sinalização Intercelular/sangue , Espondilartrite/diagnóstico , Adulto , Biomarcadores/sangue , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Espondilartrite/sangue , Espondilartrite/fisiopatologia , Fatores de Tempo
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