245 research outputs found

    Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

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    Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trialsFunding: The results of our study were partially presented at the 2017 and 2018 Annual Meetings of the Spanish Society of Neurology. Our study was partially funded by a grant from the Spanish Society of Neurology awarded to the lead author (Dr Gloria Ortega Suero), who was responsible for the database and data custody

    Mapa epidemiol√≥gico transversal de las ataxias y paraparesias esp√°sticas hereditarias en Espa√Īa

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    Resume: Introducci√≥n: Las ataxias (AT) y paraparesias esp√°sticas hereditarias (PEH) son s√≠ndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espa√Īa en 2019. Pacientes y m√©todos: Estudio transversal, multic√©ntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espa√Īa. Resultados: Se obtuvo informaci√≥n de 1933 pacientes procedentes de 11 Comunidades Aut√≥nomas, de 47 neur√≥logos o genetistas. Edad media: 53,64 a√Īos¬†¬Ī¬†20,51 desviaci√≥n est√°ndar (DE); 938 varones (48,5%), 995 mujeres (51,5%). En 920 pacientes (47,6%) no se conoce el defecto gen√©tico. Por patolog√≠as, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante m√°s frecuente es la SCA3. La AT recesiva m√°s frecuente es la ataxia de Friedreich (FRDA). La PEH dominante m√°s frecuente es la SPG4, y la PEH recesiva m√°s frecuente es la SPG7. Conclusiones: La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagn√≥stico gen√©tico. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones m√°s frecuentes para hacer los screenings por comunidades, y favorecer los ensayos cl√≠nicos. Abstract: Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100¬†000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100¬†000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials

    Conversion of M1 Macrophages to Foam Cells: Transcriptome Differences Determined by Sex

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    Background: M1 macrophages involved in pro-inflammatory processes can be induced by low-density lipoproteins (LDL), giving rise to foam cells. In the atheroma plaque, it has been identified that males present more advanced lesions associated with infiltration. Therefore, our study aims to investigate sex-related changes in the transcriptome of M1 macrophages during the internalization process of LDL particles. Methods: Peripheral blood mononuclear cells (PBMCs) from healthy male and female subjects were separated using Hystopaque, and monocytes were isolated from PBMCs using a positive selection of CD14+ cells. Cells were stimulated with LDL 10 ¬Ķg/mL, and the transcriptional profile of M1 macrophages performed during LDL internalization was determined using a Clariom D platform array. Results: Chromosome Y influences the immune system and inflammatory responses in males expressing 43% of transcripts in response to LDL treatment. Males and females share 15 transcripts, where most correspond to non-coding elements involved in oxidative stress and endothelial damage. Conclusions: During LDL internalization, male monocyte-derived M1 macrophages display more marked proinflammatory gene expression. In contrast, female M1 macrophages display a more significant number of markers associated with cell damage

    An early prediction model for gestational diabetes mellitus based on metabolomic biomarkers

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    Abstract Background Gestational diabetes mellitus (GDM) represents the main metabolic alteration during pregnancy. The available methods for diagnosing GDM identify women when the disease is established, and pancreatic beta-cell insufficiency has occurred.The present study aimed to generate an early prediction model (under 18¬†weeks of gestation) to identify those women who will later be diagnosed with GDM. Methods A cohort of 75 pregnant women was followed during gestation, of which 62 underwent normal term pregnancy and 13 were diagnosed with GDM. Targeted metabolomics was used to select serum biomarkers with predictive power to identify women who will later be diagnosed with GDM. Results Candidate metabolites were selected to generate an early identification model employing a criterion used when performing Random Forest decision tree analysis. A model composed of two short-chain acylcarnitines was generated: isovalerylcarnitine (C5) and tiglylcarnitine (C5:1). An analysis by ROC curves was performed to determine the classification performance of the acylcarnitines identified in the study, obtaining an area under the curve (AUC) of 0.934 (0.873‚Äď0.995, 95% CI). The model correctly classified all cases with GDM, while it misclassified ten controls as in the GDM group. An analysis was also carried out to establish the concentrations of the acylcarnitines for the identification of the GDM group, obtaining concentrations of C5 in a range of 0.015‚Äď0.25¬†őľmol/L and of C5:1 with a range of 0.015‚Äď0.19¬†őľmol/L. Conclusion Early pregnancy maternal metabolites can be used to screen and identify pregnant women who will later develop GDM. Regardless of their gestational body mass index, lipid metabolism is impaired even in the early stages of pregnancy in women who develop GDM

    Conversion of M1 Macrophages to Foam Cells: Transcriptome Differences Determined by Sex

    No full text
    Background: M1 macrophages involved in pro-inflammatory processes can be induced by low-density lipoproteins (LDL), giving rise to foam cells. In the atheroma plaque, it has been identified that males present more advanced lesions associated with infiltration. Therefore, our study aims to investigate sex-related changes in the transcriptome of M1 macrophages during the internalization process of LDL particles. Methods: Peripheral blood mononuclear cells (PBMCs) from healthy male and female subjects were separated using Hystopaque, and monocytes were isolated from PBMCs using a positive selection of CD14+ cells. Cells were stimulated with LDL 10 µg/mL, and the transcriptional profile of M1 macrophages performed during LDL internalization was determined using a Clariom D platform array. Results: Chromosome Y influences the immune system and inflammatory responses in males expressing 43% of transcripts in response to LDL treatment. Males and females share 15 transcripts, where most correspond to non-coding elements involved in oxidative stress and endothelial damage. Conclusions: During LDL internalization, male monocyte-derived M1 macrophages display more marked proinflammatory gene expression. In contrast, female M1 macrophages display a more significant number of markers associated with cell damage

    Romper la brecha digital de género. Factores implicados en la opción por una carrera tecnológica

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    En Espa√Īa, solo el 17% de estudiantes de inform√°tica son mujeres, una tasa dram√°ticamente similar a la del resto de pa√≠ses occidentales. El presente estudioanalizamos c√≥mo algunas chicas superan la brecha digital de g√©nero y se adentran activamente en un mundo particularmente masculinizado. Analizamos las historias de vida tecnol√≥gica de tres chicas estudiantes de inform√°tica, y se identifican las pr√°cticas sociales que rodean sus trayectorias vitales con la tecnolog√≠a. Se observa que estas chicas poseen un alto sentimiento de competencia tecnol√≥gica; utilizan estrategias de autoaprendizaje, desde√Īando la educaci√≥n formal en TIC; y presentan un acentuado gusto por las matem√°ticas y los procesos l√≥gicos. Estos factores podr√≠an proceder de un entorno familiar favorable a las tecnolog√≠as, en el que destaca la ausencia de hermanos varones que competir√≠an por el uso de ordenadores y consolas; y de su afici√≥n a los videojuegos, que constituyen una puerta de entrada a las TIC, y que incrementa sus oportunidades educativas y profesionales. Adem√°s, se evidencia que si existe un entorno familiar protecnol√≥gico, los procesos de educaci√≥n formal pueden generar efectos contraproducentes en comparaci√≥n con la capacidad del aprendizaje informal en desarrollar vocaciones.In Spain, only 17% of computer science students are women, a dramatically low tax, yet similar to the ones in the other western countries. This research analyses how some girls manage to overcome the gender digital divide, participating actively in a strongly masculinized world. To understand this process three young computer students girls technological life stories are analyzed. This research method allowed identifying the social practices surrounding the exceptional technological trajectories of these women. The results indicate that these girls have a high sense of technological competence; use self-learning strategies, scorning ICT formal education; and, have a developed taste for mathematics and logical processes. These factors may come from: a) a favorable family environment, in which the absence of brothers which could compete for computers and consoles use appears as a one striking factor; and, b) a fondness for videogames, that are, as literature signals, an important gateway to new technologies, which increase educational and professional opportunities. Finally, the research puts in evidence that, if a family environment favorable to technology exists, formal education processes can generate counteractive effects when comparing to fostering vocations capacity of informal learning

    Simultaneous evaluation of metabolomic and inflammatory biomarkers in children with different body mass index (BMI) and waist-to-height ratio (WHtR).

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    Metabolic disturbances and systemic pro-inflammatory changes have been reported in children with obesity. However, it is unclear the time-sequence of metabolic or inflammatory modifications during children obesity evolution. Our study aimed to quantify simultaneously metabolomic and inflammatory biomarkers in serum from children with different levels of adiposity. For this purpose, a cross-sectional study was used to perform targeted metabolomics and inflammatory cytokines measurements. Serum samples from children between six to ten years old were analyzed using either body mass index (BMI) or waist-to-height ratio (WHtR) classifications. One hundred and sixty-eight school-aged children were included. BMI classification in children with overweight or obesity showed altered concentrations of glucose and amino acids (glycine and tyrosine). Children classified by WHtR exhibited imbalances in amino acids (glycine, valine, and tyrosine) and lipids (triacyl glycerides and low-density lipoprotein) compared to control group. No differences in systemic inflammation biomarkers or in the prevalence of other results were found in these children. Abnormal arterial blood pressure was found in 32% of children with increased adiposity. In conclusion, obesity in school-aged children is characterized by significant metabolic modifications that are not accompanied by major disturbances in circulating concentrations of inflammatory biomarkers

    Dietary patterns and diet quality during pregnancy and low birthweight: The PRINCESA cohort

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    Although the isolated effects of several specific nutrients have been examined, little is known about the relationship between overall maternal diet during pregnancy and fetal development and growth. This study evaluates the association between maternal diet and low birthweight (LBW) in 660 pregnant women from the Pregnancy Research on Inflammation, Nutrition,& City Environment: Systematic Analyses (PRINCESA) cohort in Mexico City. Using prior day dietary intake reported at multiple prenatal visits, diet was assessed prospectively using a priori (Maternal Diet Quality Score [MDQS]) and a posteriori (dietary patterns extracted by factor analysis) approaches. The association between maternal diet and LBW was investigated by logistic regression, controlling for confounders. Adherence to recommended guidelines (higher MDQS) was associated with a reduced risk of LBW (OR, 0.22; 95% confidence interval [0.06, 0.75], P < .05, N = 49) compared with the lowest adherence category (reference group), controlling for maternal age, education, height, marital status, pre- pregnancy body mass index, parity, energy intake, gestational weight gain, and preterm versus term birth; a posteriori dietary patterns were not associated with LBW risk. Higher adherence to MDQS was associated with a lower risk of having an LBW baby in this sample. Our results support the role of advocating a healthy overall diet, versus individual foods or nutrients, in preventing LBW.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/155934/1/mcn12972_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/155934/2/mcn12972.pd

    Safety of hospital discharge before return of bowel function after elective colorectal surgery

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    Background: Ileus is common after colorectal surgery and is associated with an increased risk of postoperative complications. Identifying features of normal bowel recovery and the appropriateness for hospital discharge is challenging. This study explored the safety of hospital discharge before the return of bowel function.Methods: A prospective, multicentre cohort study was undertaken across an international collaborative network. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The main outcome of interest was readmission to hospital within 30 days of surgery. The impact of discharge timing according to the return of bowel function was explored using multivariable regression analysis. Other outcomes were postoperative complications within 30 days of surgery, measured using the Clavien-Dindo classification system.Results: A total of 3288 patients were included in the analysis, of whom 301 (9.2 per cent) were discharged before the return of bowel function. The median duration of hospital stay for patients discharged before and after return of bowel function was 5 (i.q.r. 4-7) and 7 (6-8) days respectively (P &lt; 0.001). There were no significant differences in rates of readmission between these groups (6.6 versus 8.0 per cent; P = 0.499), and this remained the case after multivariable adjustment for baseline differences (odds ratio 0.90, 95 per cent c.i. 0.55 to 1.46; P = 0.659). Rates of postoperative complications were also similar in those discharged before versus after return of bowel function (minor: 34.7 versus 39.5 per cent; major 3.3 versus 3.4 per cent; P = 0.110).Conclusion: Discharge before return of bowel function after elective colorectal surgery appears to be safe in appropriately selected patients

    Cervical epithelial damage promotes Ureaplasma parvum ascending infection, intrauterine inflammation and preterm birth induction in mice

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    Around 40% of preterm births are attributed to ascending intrauterine infection, and Ureaplasma parvum (UP) is commonly isolated in these cases. Here we present a mouse model of ascending UP infection that resembles human disease, using vaginal inoculation combined with mild cervical injury induced by a common spermicide (Nonoxynol-9, as a surrogate for any mechanism of cervical epithelial damage). We measure bacterial load in a non-invasive manner using a luciferase-expressing UP strain, and post-mortem by qPCR and bacterial titration. Cervical exposure to Nonoxynol-9, 24 h pre-inoculation, facilitates intrauterine UP infection, upregulates pro-inflammatory cytokines, and increases preterm birth rates from 13 to 28%. Our results highlight the crucial role of the cervical epithelium as a barrier against ascending infection. In addition, we expect the mouse model will facilitate further research on the potential links between UP infection and preterm birth
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