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1.
Physiol Mol Biol Plants ; 29(10): 1423-1435, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38076759

RESUMO

Lycopene cyclases (LCYs) are a key branching point in regulating the carotenoid biosynthesis pathway in plants. Bixa orellana L. is characterized by the presence in its seed of bixin, an apocarotenoid of significant importance in the food, pharmaceutical, and cosmetic industries. Gene analysis provides the opportunity to investigate the LCY gene structure in plant species and its relationship with the synthesis of carotenoids. Coding sequences of the LCY genes were retrieved from a B. orellana genome DNA. Boß-LCY1 and Boß-LCY2 genes exhibit 100% of identity to their respective cDNA accessions, and exhibit a single coding region of 1512 bp (504 aa) and 1495 bp (498 aa), respectively. In contrast, Boε-LCY gene shows a coding region of 1581 bp (527 aa) with 10 introns of diverse lengths. Putative Transcription Factors (TFs) binding sites were upstream (3000 bp) identified for each LCY gene. TFs cover two groups, one with the categories of photosynthesis, reproduction, and oxidative processes that are frequent. The second one with the categories of defense, cell cycle, signaling, and carbohydrate metabolism, which are poorly represented. Besides, repetitive DNA elements showed motifs and proteins related to LTR from the Ty3/Gypsy family, were associated with the TFs regions. In general, TFs vary in the different BoLCY genes, being more abundant in the Boε-LCY gene. LCY expression analyzed from a transcriptome database, and validated by RT-qPCR, shows an upregulation of the three LCYs, mainly oriented to the synthesis of essential carotenoids in photosynthetic tissues (leaves), as well as an upregulation of the Boß-LCY2 gene in the non-photosynthetic tissues (firsts seed development stages) related to the bixin accumulation. Supplementary Information: The online version contains supplementary material available at 10.1007/s12298-023-01384-8.

2.
Circ Heart Fail ; 16(12): e010673, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-38113298

RESUMO

BACKGROUND: Twitch-independent tension has been demonstrated in cardiomyocytes, but its role in heart failure (HF) is unclear. We aimed to address twitch-independent tension as a source of diastolic dysfunction by isolating the effects of chamber resting tone (RT) from impaired relaxation and stiffness. METHODS: We invasively monitored pressure-volume data during cardiopulmonary exercise in 20 patients with hypertrophic cardiomyopathy, 17 control subjects, and 35 patients with HF with preserved ejection fraction. To measure RT, we developed a new method to fit continuous pressure-volume measurements, and first validated it in a computational model of loss of cMyBP-C (myosin binding protein-C). RESULTS: In hypertrophic cardiomyopathy, RT (estimated marginal mean [95% CI]) was 3.4 (0.4-6.4) mm Hg, increasing to 18.5 (15.5-21.5) mm Hg with exercise (P<0.001). At peak exercise, RT was responsible for 64% (53%-76%) of end-diastolic pressure, whereas incomplete relaxation and stiffness accounted for the rest. RT correlated with the levels of NT-proBNP (N-terminal pro-B-type natriuretic peptide; R=0.57; P=0.02) and with pulmonary wedge pressure but following different slopes at rest and during exercise (R2=0.49; P<0.001). In controls, RT was 0.0 mm Hg and 1.2 (0.3-2.8) mm Hg in HF with preserved ejection fraction patients and was also exacerbated by exercise. In silico, RT increased in parallel to the loss of cMyBP-C function and correlated with twitch-independent myofilament tension (R=0.997). CONCLUSIONS: Augmented RT is the major cause of LV diastolic chamber dysfunction in hypertrophic cardiomyopathy and HF with preserved ejection fraction. RT transients determine diastolic pressures, pulmonary pressures, and functional capacity to a greater extent than relaxation and stiffness abnormalities. These findings support antimyosin agents for treating HF.


Assuntos
Cardiomiopatia Hipertrófica , Insuficiência Cardíaca , Disfunção Ventricular Esquerda , Humanos , Insuficiência Cardíaca/diagnóstico , Volume Sistólico , Disfunção Ventricular Esquerda/diagnóstico , Coração , Cardiomiopatia Hipertrófica/diagnóstico , Função Ventricular Esquerda
3.
Neurología (Barc., Ed. impr.) ; 38(8): 591-598, Oct. 20232. ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-226326

RESUMO

Introducción: Las nuevas tecnologías (NT) están cada vez más presentes en el ámbito biomédico. Utilizando la definición de consenso de NT del Comité Ad-Hoc de Nuevas Tecnologías de la Sociedad Española de Neurología (SEN), se evalúa su impacto en la neurología española a través de las comunicaciones de las reuniones anuales de la SEN. Material y métodos: Se define el concepto de NT en neurología como una tecnología novedosa o aplicación de una tecnología anterior, caracterizada por un cierto grado de coherencia persistente en el tiempo, con potencial de tener impacto en el presente y futuro de la neurología. Se plantea un estudio descriptivo tomando como fuente las comunicaciones de las reuniones de la SEN desde 2012 hasta 2018 y analizando los tipos de NT empleadas, la subespecialidad, así como su distribución territorial. Resultados: De las 8.139 comunicaciones presentadas, 299 estaban relacionadas con NT (3,7%), incluyendo 120 pósteres y 179 comunicaciones orales, variando desde el 1,6% en 2012 hasta el 6,8% en 2018. Los tipos de tecnología mayormente representados fueron neuroimagen avanzada (24,7%), biosensores (17,1%), electrofisiología y neuroestimulación (14,7%) y telemedicina (13,7%). Las áreas neurológicas con mayor empleo de NT fueron trastornos del movimiento (18,4%), enfermedades cerebrovasculares (15,7%) y demencias (13,4%). Madrid fue la comunidad que presentó más comunicaciones (32,8%), seguida por Cataluña (26,8%) y Andalucía (9,0%). Conclusiones: Las comunicaciones sobre NT siguen una tendencia creciente. El número de NT empleadas ha ido aumentando de manera paralela a la disponibilidad tecnológica. Se encontraron comunicaciones en todas las subespecialidades neurológicas, con una distribución geográfica heterogénea.(AU)


Introduction: New technologies (NT) are increasingly widespread in biomedicine. Using the consensus definition of NT established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN. Material and methods: We defined the concept of NT in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN's annual meetings from 2012 to 2018, analysing the type of NT, the field of neurology, and the geographical provenance of the studies. Results: We identified 299 communications related with NT from a total of 8,139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where NT were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to NT (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%). Conclusions: The number of communications addressing NT follows an upward trend. The number of NT used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.(AU)


Assuntos
Humanos , Neurologia/tendências , Invenções/classificação , Invenções/história , Avaliação da Tecnologia Biomédica , Tecnologia Biomédica , Espanha
4.
J Autoimmun ; 135: 102990, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36621176

RESUMO

OBJECTIVES: To characterize the splicing machinery (SM) of leukocytes from primary antiphospholipid syndrome (APS), systemic lupus erythematosus (SLE) and antiphospholipid syndrome with lupus (APS + SLE) patients, and to assess its clinical involvement. METHODS: Monocytes, lymphocytes and neutrophils from 80 patients (22 APS, 35 SLE and 23 APS + SLE) and 50 HD were purified, and 45 selected SM components were evaluated by qPCR-microfluidic array. Relationship with clinical features and underlying regulatory mechanisms were assessed. RESULTS: APS, SLE and APS + SLE leukocytes displayed significant and specific alterations in SM-components (SMC), associated with clinical features [autoimmune profiles, disease activity, lupus nephritis (LN), and CV-risk markers]. A remarkable relationship among dysregulated SMC in monocytes and the presence of LN in SLE was highlighted, revealing a novel pathological mechanism, which was further explored. Immunohistology analysis of renal biopsies highlighted the pathological role of the myeloid compartment in LN. Transcriptomic analysis of monocytes from SLE-LN(+) vs SLE-LN(-) identified 271 genes differentially expressed, mainly involved in inflammation and IFN-signaling. Levels of IFN-related genes correlated with those of SMC in SLE-LN(+). These results were validated in two external SLE-LN(+) datasets of whole-blood and kidney biopsies. In vitro, SLE-LN(+)-serum promoted a concomitant dysregulation of both, the IFN signature and several SMC, further reversed by JAKinibs treatment. Interestingly, IFNs, key inflammatory cytokines in SLE pathology, also altered SMC. Lastly, the over/down-expression of selected SMC in SLE-monocytes reduced the release of inflammatory cytokines and their adhesion capacity. CONCLUSION: Overall, we have identified, for the first time, a specific alteration of SMC in leukocytes from APS, SLE and APS + SLE patients that would be responsible for the development of distinctive clinical profiles.


Assuntos
Síndrome Antifosfolipídica , Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Humanos , Inflamação , Citocinas
5.
Rev. clín. esp. (Ed. impr.) ; 223(1): 17-24, ene. 2023.
Artigo em Espanhol | IBECS | ID: ibc-214305

RESUMO

Introducción La osteonecrosis avascular (ONA) de cadera y de hombro es una enfermedad poco estudiada y no se conocen bien los factores de riesgos predisponentes para desarrollarla. Existe un porcentaje alto de pacientes diagnosticados como osteonecrosis idiopática. Este estudio tiene como objetivo investigar la prevalencia de los posibles factores etiológicos de la ONA y realizar un cribado de la enfermedad de Gaucher en los pacientes diagnosticados de ONA idiopática. Material y método Estudio observacional retrospectivo y unicéntrico de los pacientes que hayan presentado al menos un episodio de osteonecrosis avascular de la cadera o del hombro en el Hospital de Poniente (Almería, España) desde enero de 2010 a diciembre de 2019. Se recogieron datos clínicos y analíticos. Los pacientes en cuya historia clínica no se describían factores etiológicos fueron cribados para enfermedad de Gaucher. Resultados Se incluyeron un total de 81 pacientes, de los cuales 58 eran hombres. La edad media de presentación de ONA fue de 45,9 años. Presentaron necrosis unilateral de cadera (n = 43), necrosis bilateral de cadera (n = 34), necrosis bilateral de cadera y unilateral de hombro (n = 3) y necrosis unilateral de hombro (n = 1). Los potenciales factores etiológicos más frecuentes fueron tabaquismo (46,9%) y obesidad (17,3%). Se realizó un cribado de la enfermedad de Gaucher en 10 pacientes, que resultó ser negativo. Conclusiones En nuestro estudio los principales potenciales factores etiológicos de aparición de la ONA fueron el tabaquismo y la obesidad. Existe un porcentaje alto de pacientes diagnosticados de osteonecrosis avascular idiopática. Creemos que en estos casos se debería realizar un estudio más exhaustivo de los factores de riesgo menos frecuentes (AU)


Introduction Avascular necrosis (AON) of the hip and shoulder is a little studied disease and the predisposing risk factors for its development are not well known. A high percentage of patients are diagnosed with idiopathic osteonecrosis. This study aims to investigate the prevalence of potential etiological factors for AON and to screen for Gaucher disease among patients with idiopathic AON. Material and methods This retrospective, single-center, observational study was conducted on patients who had at least one episode of AON of the hip or shoulder at the Hospital de Poniente (Almería, Spain) from January 2010 to December 2019. Clinical and analytical data were collected. Patients whose medical record described no etiological factors for this disease were screened for Gaucher disease. Result The study sample consisted of 81 patients, of whom 58 were male. The mean age at presentation of AON was 45.9 years. They presented with unilateral hip necrosis (n = 43), bilateral hip necrosis (n = 34), bilateral hip and unilateral shoulder necrosis (n = 3), and unilateral shoulder necrosis (n = 1). The most frequent potential etiological factors were smoking (46.9%) and obesity (17.3%). Screening for Gaucher disease was performed in ten patients, all of whom tested negative. Conclusions In our study population, the main potential etiological factors the onset of AON of the shoulder or hip were smoking and obesity. A high percentage of patients were diagnosed with idiopathic AON. We believe that a more exhaustive study of less frequent risk factors should be carried out in these cases (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Doença de Gaucher/diagnóstico , Osteonecrose/diagnóstico , Osteonecrose/etiologia , Quadril/patologia , Ombro/patologia , Estudos Retrospectivos , Programas de Rastreamento , Fatores de Risco , Prevalência
7.
Psicol. educ. (Madr.) ; 29(1): 15-23, Ene. 2023. tab
Artigo em Inglês | IBECS | ID: ibc-215007

RESUMO

The positive parenting approach has highlighted the importance of supporting families to perform the functions associated with their parental role and to improve children’s well-being. The aims of this study were to identify and describe the characteristics of family support programmes in Spain, and to examine the extent to which they meet evidence-based standards for programme formulation. The sample includes 57 programmes identified by the Spanish Family Support Network, which belongs to the pan-European Family Support Network(EurofamNet) . Frequency analyses and contingency tables were carried out. The results show that the Spanish programmes meet several evidence-based standards for programme formulation (i.e., manualization). However, further efforts are required in some areas, such as universality and interdisciplinarity of family support programmes. The findings provide a platform from which to design new initiatives in accordance with standards for prevention programmes, and inform stakeholders and politicians in drawing up evidence-based public policies.(AU)


El enfoque de parentalidad positiva ha puesto de manifiesto la importancia de apoyar a las familias en el ejercicio de las funciones asociadas a su rol parental y para que aumenten el bienestar de los niños. Los objetivos de este estudio fueron identificar y describir las características de los programas de apoyo a la familia en España y examinar en qué medida cumplen con los estándares basados en la evidencia para la formulación de programas. La muestra incluye 57 programas identificados por la Red Española de Apoyo a la Familia, que pertenece a la Red Paneuropea de Apoyo a la Familia (EurofamNet). Se realizaron análisis de frecuencia y tablas de contingencia. Los resultados muestran que los programas españoles cumplen varios estándares basados en la evidencia para la formulación de programas (por ejemplo, que están manualizados). Sin embargo, es necesario realizar más esfuerzos en algunas áreas, como la universalidad y la interdisciplinariedad de los programas de apoyo familiar. Los resultados proporcionan una plataforma desde la que diseñar nuevas iniciativas de acuerdo con los estándares de los programas de prevención, y orientan a las partes interesadas y a los políticos en la elaboración de políticas públicas basadas en la evidencia.(AU)


Assuntos
Humanos , Masculino , Feminino , Prática Clínica Baseada em Evidências , Núcleo Familiar , Saúde da Família , Relações Familiares , 34600 , Relações Pai-Filho , Psicologia , Psicologia Educacional , Espanha
8.
Neurologia (Engl Ed) ; 38(8): 591-598, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35842132

RESUMO

INTRODUCTION: New technologies are increasingly widespread in biomedicine. Using the consensus definition of new technologies established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN. MATERIAL AND METHODS: We defined the concept of new technology in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN's annual meetings from 2012 to 2018, analysing the type of technology, the field of neurology, and the geographical provenance of the studies. RESULTS: We identified 299 communications related with new technologies from a total of 8139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where new technologies were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to new technologies (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%). CONCLUSIONS: The number of communications addressing new technologies follows an upward trend. The number of technologies used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.


Assuntos
Transtornos Cerebrovasculares , Transtornos dos Movimentos , Neurologia , Humanos , Espanha , Sociedades
10.
Rev Clin Esp (Barc) ; 223(1): 17-24, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36457211

RESUMO

INTRODUCTION: Avascular necrosis (AON) of the hip and shoulder is a little studied disease and the predisposing risk factors for its development are not well known. A high percentage of patients are diagnosed with idiopathic osteonecrosis. This study aims to investigate the prevalence of potential etiological factors for AON and to screen for Gaucher disease among patients with idiopathic AON. MATERIAL AND METHODS: This retrospective, single-center, observational study was conducted on patients who had at least one episode of AON of the hip or shoulder at the Hospital de Poniente (Almería, Spain) from January 2010 to December 2019. Clinical and analytical data were collected. Patients whose medical record described no etiological factors for this disease were screened for Gaucher disease. RESULTS: The study sample consisted of 81 patients, of whom 58 were male. The mean age at presentation of AON was 45.9 years. They presented with unilateral hip necrosis (n=43), bilateral hip necrosis (n=34), bilateral hip and unilateral shoulder necrosis (n=3), and unilateral shoulder necrosis (n=1). The most frequent potential etiological factors were smoking (46.9%) and obesity (17.3%). Screening for Gaucher disease was performed in ten patients, all of whom tested negative. CONCLUSIONS: In our study population, the main potential etiological factors the onset of AON of the shoulder or hip were smoking and obesity. A high percentage of patients were diagnosed with idiopathic AON. We believe that a more exhaustive study of less frequent risk factors should be carried out in these cases.


Assuntos
Doença de Gaucher , Osteonecrose , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Ombro , Estudos Retrospectivos , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Doença de Gaucher/epidemiologia , Osteonecrose/diagnóstico , Osteonecrose/epidemiologia , Osteonecrose/etiologia , Necrose/complicações , Obesidade/complicações
11.
Chemosphere ; 313: 137530, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36509187

RESUMO

BACKGROUND: Per- and polyfluoroalkyl substances (PFAS) are persistent organic pollutants. The first exposure to PFAS occurs in utero, after birth it continues via breast milk, food intake, environment, and consumer products that contain these chemicals. Our aim was to identify determinants of PFAS concentrations in sensitive population subgroups- pregnant women and newborns. METHODS: Nine European birth cohorts provided exposure data on PFAS in pregnant women (INMA-Gipuzkoa, Sabadell, Valencia, ELFE and MoBa; total N = 5897) or newborns (3xG study, FLEHS 2, FLEHS 3 and PRENATAL; total N = 940). PFOS, PFOA, PFHxS and PFNA concentrations were measured in maternal or cord blood, depending on the cohort (FLEHS 2 measured only PFOS and PFOA). PFAS concentrations were analysed according to maternal characteristics (age, BMI, parity, previous breastfeeding, smoking, and food consumption during pregnancy) and parental educational level. The association between potential determinants and PFAS concentrations was evaluated using multiple linear regression models. RESULTS: We observed significant variations in PFAS concentrations among cohorts. Higher PFAS concentrations were associated with higher maternal age, primipara birth, and educational level, both for maternal blood and cord blood. Higher PFAS concentrations in maternal blood were associated with higher consumption of fish and seafood, meat, offal and eggs. In cord blood, higher PFHxS concentrations were associated with daily meat consumption and higher PFNA with offal consumption. Daily milk and dairy consumption were associated with lower concentrations of PFAS in both, pregnant women and newborns. CONCLUSION: High detection rates of the four most abundant PFAS demonstrate ubiquitous exposure of sensitive populations, which is of concern. This study identified several determinants of PFAS exposure in pregnant women and newborns, including dietary factors, and these findings can be used for proposing measures to reduce PFAS exposure, particularly from dietary sources.


Assuntos
Ácidos Alcanossulfônicos , Poluentes Ambientais , Fluorocarbonos , Animais , Gravidez , Feminino , Humanos , Populações Vulneráveis , Paridade , Dieta
12.
PLoS One ; 17(7): e0264566, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35901034

RESUMO

Current medical guidelines consider pregnant women with COVID-19 to be a high-risk group. Since physiological gestation downregulates the immunological response to maintain "maternal-fetal tolerance", SARS-CoV-2 infection may constitute a potentially threatening condition to both the mother and the fetus. To establish the immune profile in pregnant COVID-19+ patients, a cross-sectional study was conducted. Pregnant women with COVID-19 (P-COVID-19+; n = 15) were analyzed and compared with nonpregnant women with COVID-19 (NP-COVID-19+; n = 15) or those with physiological pregnancy (P-COVID-19-; n = 13). Serological cytokine and chemokine concentrations, leucocyte immunophenotypes, and mononuclear leucocyte responses to polyclonal stimuli were analyzed in all groups. Higher concentrations of serological TNF-α, IL-6, MIP1b and IL-4 were observed within the P-COVID-19+ group, while cytokines and chemokines secreted by peripheral leucocytes in response to LPS, IL-6 or PMA-ionomicin were similar among the groups. Immunophenotype analysis showed a lower percentage of HLA-DR+ monocytes in P-COVID-19+ than in P-COVID-19- and a higher percentage of CD39+ monocytes in P-COVID-19+ than in NP-COVID-19+. After whole blood polyclonal stimulation, similar percentages of T cells and TNF+ monocytes between groups were observed. Our results suggest that P-COVID-19+ elicits a strong inflammatory response similar to NP-COVID19+ but also displays an anti-inflammatory response that controls the ATP/adenosine balance and prevents hyperinflammatory damage in COVID-19.


Assuntos
COVID-19 , Monócitos , Apirase/imunologia , Estudos Transversais , Citocinas , Feminino , Humanos , Interleucina-6 , Gravidez , SARS-CoV-2
13.
Rev Neurol ; 75(5): 103-108, 2022 09 01.
Artigo em Espanhol | MEDLINE | ID: mdl-35880963

RESUMO

INTRODUCTION: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. RESULTS: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. CONCLUSIONS: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.


TITLE: Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.


Assuntos
Doença de Depósito de Glicogênio Tipo II , Doenças Musculares , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Doença de Depósito de Glicogênio Tipo II/epidemiologia , Doença de Depósito de Glicogênio Tipo II/genética , Humanos , México/epidemiologia , Mutação , Adulto Jovem , alfa-Glucosidases/genética
14.
Physiol Mol Biol Plants ; 28(4): 709-718, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35592485

RESUMO

Fruit morphology and dehiscence-related genes were analyzed in dehiscent N4P and dehiscent P12 Bixa orellana accessions. Fruit architecture (exocarp and pericarp cells, trichomes, vascular bundles, vesicles, and bixin cells) documented by Scanning electron microscopy (SEM) morphology, blue toluidine stain, and phloroglucinol and hydrochloric acid (PHCL) stain was similar in both accessions. Although, the dehiscent zone (DZ) was higher in the indehiscent P12 B. orellana accession, lignification values, obtained by phloroglucinol and hydrochloric acid stain, within the DZ remain was similar in both variants being lower at 34 days after floral anthesis in the dehiscent N4P B. orellana accession. Dehiscence-related genes APETALA (AP2), SHATTERPROOF (SHP), and SPATULA (SPT) were identified on the reported B. orellana transcriptome (SRX1117606). Real-time quantitative polymerase chain reaction primers build by using these genes allow observing a differential expression during six fruit development stages. In both B. orellana accessions, the AP2 transcripts have a reduced expression, whereas the SHP transcripts were significantly higher during the first two days and ten days of development. SPT transcripts show an expression differential between both accessions being significantly higher in the dehiscent N4P, peaking with 9.66% at 42 days after floral anthesis (DAFA) of development. SPT transcription profile suggested that this gene has an important role during the fruit opening in the dehiscent N4P B. orellana accession. Supplementary Information: The online version contains supplementary material available at 10.1007/s12298-022-01180-w.

15.
Nutr. clín. diet. hosp ; 42(1): 62-70, Abr. 2022. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-204593

RESUMO

Introducción: La talla y el perímetro torácico son indica-dores del estado de salud y bienestar de una población.Dichas medidas antropométricas dependen de agentes socio-económicos, nutricionales y ambientales. Objetivos: Analizar la estatura y el perímetro del tórax delos reclutas de diferentes provincias españolas en la décadade los 50 del pasado siglo. Asimismo, comparar dichas medi-das corporales con las de los estudiantes del mismo períodode tiempo. Material y Métodos: Se parte de dos muestras, una de2421 sujetos de los reclutamientos de 1950 a 1953 de dife-rentes provincias españolas y la otra, de 957 estudiantes va-rones de 23 a 33 años. Se confrontaron talla y perímetro to-rácico de los reclutas de las diferentes regiones. Secompararon dichas medidas entre soldados y estudiantes uni-versitarios. Resultados: Las estaturas más elevadas de reclutas seencontraban en las zonas catalana y vasco-navarra y la me-nor correspondía a la castellano-leonesa. Los soldados galle-gos y vasco-navarros poseían un perímetro torácico estadísti-camente mayor que el de los andaluces y castellano-leoneses.Los estudiantes tienen un promedio de talla superior a la delos reclutas, tanto a nivel general como en la mayoría de lasregiones geográficas comparadas. Igualmente, el perímetrotorácico medio del alumnado universitario es mayor que el delos soldados, a nivel del conjunto de España y de todas las re-giones analizadas. Conclusiones: Los reclutas más altos eran los del norestey los de mayor tórax, los de la zona septentrional de España.Las medidas de estudiantes fueron mayores que las de los dereclutas.(AU)


Introduction: Stature and thoracic perimeter are indica-tors of health and wellbeing status of a population. These an-thropometric measures are affected by socioeconomic, nutri-tional and environmental factors. Objectives: To analyze the stature and thoracic perime-ter of the recruits of different Spanish provinces in the decadeof the ‘50s of the last century. Also to compare these bodymeasurements with those of the students of the same period. Methods: This study was based on two samples, one com-posed of 2421 recruits conscripted between 1950 and 1953from different Spanish provinces. The second one featured956 male students aged 23-33. We collected the stature andthoracic perimeter of the recruits from different regions. Wecompared said measures between recruits and students. Results: The tallest recruits were found in the Catalan andBasque-Navarre areas and the shortest in the Castilian-Leonese area. Galician and Basque-Navarrese soldiers had astatistically greater thoracic perimeter than Andalusian andCastilian-Leonese soldiers. The students have a higher aver-age stature than the recruits, both overall and in most of thegeographical regions compared. Likewise, the average tho-racic perimeter of university students is greater than that ofsoldiers, at the level of Spain as a whole and of all the regionsanalyzed. Conclusion: The tallest recruits belonged to the northeastwhilst those with the largest thoracic perimeters were fromnorthern Spain. The measurements from students werehigher than those from the recruits.(AU)


Assuntos
Humanos , Masculino , História do Século XX , Antropometria , Espanha , Estudantes , Tórax , Desnutrição , Estatura , Serviço Hospitalar de Nutrição , 52503
17.
Eur Heart J Cardiovasc Imaging ; 23(5): 601-612, 2022 04 18.
Artigo em Inglês | MEDLINE | ID: mdl-35137010

RESUMO

AIMS: The interplay between aortic stenosis (AS), cardiovascular events, and mortality is poorly understood. In addition, how echocardiographic indices compare for predicting outcomes remains unexplored for the full range of AS severity. METHODS AND RESULTS: We prospectively calculated peak jet velocity (Vmax) and aortic valve area (AVA) in 5994 adult subjects with and without AS. We linked ultrasound data to 5-year mortality and clinical events obtained from electronic medical records. Proportional-hazard and negative binomial regression models were adjusted for relevant covariables such as age, sex, comorbidities, stroke-volume, LV ejection fraction, left valve regurgitation, aortic valve sclerosis or calcification, and valve replacement. We observed a strong linear relationship between Vmax and all-cause mortality (hazard ratio: 1.26, 95% confidence interval: 1.19-1.33 per 100 cm/s), cardiovascular events, as well as incidental and recurrent heart failure (HF). Adjusted risks were highly significant even at Vmax values in the range of 150-200 cm/s, risk curves separating very early after the index exam. Vmax was not associated with coronary, arrhythmic, cerebrovascular, or non-cardiovascular events. Although risks were confirmed when AVA was entered in place of Vmax, the risks estimated for categories based on the two indices were mismatched, even in patients with normal flow. An external cohort comprising 112 690 patients confirmed augmented risks of all-cause and cardiovascular mortality starting at values of Vmax and AVA in the range of mild AS. CONCLUSIONS: Aortic stenosis is strongly associated to all-cause mortality, cardiovascular mortality, and cardiac events, specifically HF. Risks increase in parallel to the degree of outflow obstruction but are apparent very early in patients with mild disease. Criteria for grading AS based on Vmax and AVA are mismatched in terms of outcomes.


Assuntos
Estenose da Valva Aórtica , Valva Aórtica , Adulto , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Ecocardiografia Doppler/métodos , Humanos , Índice de Gravidade de Doença , Volume Sistólico
18.
Artigo em Inglês | MEDLINE | ID: mdl-35162294

RESUMO

This study provides a safe and low-cost in-house protocol for RT-qPCR-based detection of SARS-CoV-2 using mouthwash-saliva self-collected specimens to achieve clinical and epidemiological surveillance in a real-time web environment applied to ambulatory populations. The in-house protocol comprises a mouthwash-saliva self-collected specimen, heat virus inactivation, and primers to target virus N-gene region and the human RPP30-gene. Aligning with 209 SARS-CoV-2 sequences confirmed specificity including the Alpha variant from the UK. Development, validation, and statistical comparison with official nasopharyngeal swabbing RT-qPCR test were conducted with 115 specimens of ambulatory volunteers. A web-mobile application platform was developed to integrate a real-time epidemiological and clinical core baseline database with mouthwash-saliva RT-qPCR testing. Nine built-in algorithms were generated for decision-making on testing, confining, monitoring, and self-reports to family, social, and work environments. Epidemiological and clinical follow-up and SARS-CoV-2 testing generated a database of 37,351 entries allowing individual decision-making for prevention. Mouthwash-saliva had higher sensitivity than nasopharyngeal swabbing in detecting asymptomatic and mild symptomatic cases with 720 viral copy number (VCN)/mL as the detection limit (Ct = 37.6). Cycling threshold and viral loading were marginally different (p = 0.057) between asymptomatic (35 Ct ± 2.8; 21,767.7 VCN/mL, range 720-77,278) and symptomatic (31.3 Ct ± 4.5; 747,294.3 VCN/mL, range 1433.6-3.08 × 106). We provided proof-of-concept evidence of effective surveillance to target asymptomatic and moderate symptomatic ambulatory individuals based on integrating a bio-safety level II laboratory, self-collected, low-risk, low-cost detection protocol, and a real-time digital monitoring system. Mouthwash-saliva was effective for SARS-CoV-2 sampling for the first time at the community level.


Assuntos
COVID-19 , Antissépticos Bucais , Teste para COVID-19 , Feminino , Humanos , SARS-CoV-2 , Saliva , Manejo de Espécimes
19.
Eur Heart J Cardiovasc Imaging ; 23(3): 392-401, 2022 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-33332549

RESUMO

AIMS: Timing surgery in chronic aortic regurgitation (AR) relies mostly on echocardiography. However, cardiac magnetic resonance (CMR) may be more accurate for quantifying regurgitation and left ventricular (LV) remodelling. We aimed to compare the technical and clinical efficacies of echocardiography and CMR to account for the severity of the disease, the degree of LV remodelling, and predict AR-related outcomes. METHODS AND RESULTS: We studied 263 consecutive patients with isolated AR undergoing echocardiography and CMR. After a median follow-up of 33 months, 76 out of 197 initially asymptomatic patients reached the primary endpoint of AR-related events: 6 patients (3%) were admitted for heart failure, and 70 (36%) underwent surgery. Adjusted survival models based on CMR improved the predictions of the primary endpoint based on echocardiography: R2 = 0.37 vs. 0.22, χ2 = 97 vs. 49 (P < 0.0001), and C-index = 0.80 vs. 0.70 (P < 0.001). This resulted in a net classification index of 0.23 (0.00-0.46, P = 0.046) and an integrated discrimination improvement of 0.12 (95% confidence interval 0.08-0.58, P = 0.02). CMR-derived regurgitant fraction (<28, 28-37, or >37%) and LV end-diastolic volume (<83, 183-236, or >236 mL) adequately stratified patients with normal EF. The agreement between techniques for grading AR severity and assessing LV dilatation was poor, and CMR showed better reproducibility. CONCLUSIONS: CMR improves the clinical efficacy of ultrasound for predicting outcomes of patients with AR. This is due to its better reproducibility and accuracy for grading the severity of the disease and its impact on the LV. Regurgitant fraction, LV ejection fraction, and end-diastolic volume obtained by CMR most adequately predict AR-related events.


Assuntos
Insuficiência da Valva Aórtica , Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/cirurgia , Ecocardiografia , Humanos , Espectroscopia de Ressonância Magnética , Reprodutibilidade dos Testes , Resultado do Tratamento
20.
Crit Rev Food Sci Nutr ; 62(19): 5130-5139, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33612010

RESUMO

This study aims to provide research progress and update on structural, physicochemical, nutritional characteristics and technologically processing impact on cool-season adapted oat and barley cereal kernels. The study focused on cool-season adapted oats grain production and nutrition in ruminant systems and strategies to improve the utilization of the oat grain through processing techniques. The updated evaluation methods and advanced molecular spectroscopy techniques to study molecular structures with attenuated total reflectance Fourier transform infrared spectroscopy, synchrotron-based Fourier transform infrared microspectroscopy were reviewed. This study summarizes the methods and provides a potential approach on how to use vibrational molecular spectroscopy to study molecular chemistry and molecular structure and molecular nutrition interaction of grain.


Assuntos
Hordeum , Ração Animal/análise , Avena , Grão Comestível/química , Hordeum/química , Estações do Ano , Espectroscopia de Infravermelho com Transformada de Fourier , Análise Espectral
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