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1.
Mov Disord ; 39(10): 1843-1855, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39051491

RESUMEN

BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. METHODS: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture-sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. CONCLUSIONS: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European-derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Pruebas Genéticas , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/genética , Masculino , Femenino , Persona de Mediana Edad , Anciano , Pruebas Genéticas/métodos , América del Sur , América Central , Predisposición Genética a la Enfermedad/genética , Adulto
2.
J Cardiovasc Nurs ; 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38687116

RESUMEN

BACKGROUND: Quality of life (QoL) is the criterion-standard outcome in palliative care for patients with various illnesses and their family caregivers. There is a need to determine the factors affecting caregivers' QoL in each population and the differences between groups to design differentiated intervention strategies. PURPOSE: The aims of this study were to compare the role adoption, social support, and QoL of family caregivers of patients with heart failure and cancer in palliative care and to examine the determinants of QoL. METHODS: A comparative study was conducted with the family caregivers of patients with cancer (n = 81) and heart failure (n = 80) in palliative care. Quality of life in life-limiting situations, role adoption, and social support questionnaires were also administered. A χ2 test, Student t test, and Mann-Whitney U test were used for between-group comparisons. Multiple linear regression was used to examine the effects of the correlated variables on caregivers' QoL. RESULTS: Caregivers of patients with heart failure had better QoL (P = .006) and lower tangible social support (P = .007) than caregivers of patients with heart failure. No differences were found in caregiver role adoption between the groups. Linear regression indicated that for caregivers of patients with cancer, social support, role adoption, caregiver age, and patient functional status affect caregiver QoL. For caregivers of patients with heart failure, role adoption and patient functional status are predictors of QoL. CONCLUSIONS: Overall, healthcare professionals should focus on improving social support and caregiver role adoption and provide greater attention to the QoL of caregivers of patients with cancer.

3.
BMC Med Educ ; 24(1): 76, 2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38254094

RESUMEN

BACKGROUND: Empathy and emotional intelligence are core competencies in the educational curriculum of health science students, both play a significant role in teamwork relationships and in attention patient's cares; so innovative strategies to enhance these emotional skills are required. We prospectively tested an academic coaching program for improving empathy and emotional intelligence in students of health sciences degrees. METHODS: A prospectively single arm intervention study was performed in undergraduate students of nursing, physiotherapy and occupational therapy of the Faculty of Health Sciences from the University of Granada (Spain). The three groups of students participated in nine sessions of coaching, which included a training program to manage patient's priorities and communication, adherence to treatment, motivation and satisfaction. Survey data included the Cognitive and Affective Empathy Test (TECA), the Trait Meta-Mood Scale (TMMS-24) and the Interpersonal Reactivity Index (IRI) which were assessed at baseline and post-intervention. RESULTS: A total of 93 students of 259 (mean age of 21.6 ± 3.2 years) participated in the study and completed the sessions of coaching/surveys. After the intervention, we observed an improvement in the cognitive dimension of empathy among nursing students (p = 0.035) and in the affective dimension of empathy in physiotherapy students (p = 0.044). In addition, an increase on perceived emotional intelligence among students was achieved only in nursing/physiotherapy groups (p ≤ 0.048). Finally, slight improvements were founded in the dimensions "Perspective-Taking" and "Personal Distress" of the occupational therapy group (p ≤ 0.031). No significant differences were found for the rest of variables of TECA (p ≥ 0.052), TMMS-24 (p ≥ 0.06) and IRI (p ≥ 0.12). CONCLUSIONS: This study shows that an academic coaching intervention with students from health sciences degrees improves their empathy skills and self-perceived emotional intelligence. The current findings can be used to determine more effective approaches to implementing academic coaching interventions based in better designs as clinical trial studies.


Asunto(s)
Tutoría , Triterpenos , Humanos , Adolescente , Adulto Joven , Adulto , Empatía , Estudios Prospectivos , Estudiantes , Inteligencia Emocional
4.
Alzheimers Dement ; 20(4): 2873-2885, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38450831

RESUMEN

INTRODUCTION: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD. METHODS: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue. RESULTS: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons. DISCUSSION: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.


Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/metabolismo , Disfunción Cognitiva/genética , Disfunción Cognitiva/metabolismo , Encéfalo/metabolismo , Neuronas/metabolismo , Presenilina-1/genética , Presenilina-1/metabolismo , Mutación/genética
5.
Alzheimers Dement ; 20(9): 6384-6394, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39072908

RESUMEN

INTRODUCTION: This study investigates primary lateral sclerosis (PLS) as a rare manifestation of the presenilin 1 (PSEN1) NM_000021 c.851C > T p.Pro284Leu variant in three siblings of a Colombian family, outlining its clinical and neuropathological features and their relationship to Alzheimer's disease (AD). METHODS: Data were gathered using clinical evaluations, next-generation genetic sequencing, magnetic resonance imaging, biomarker analysis, and neuropathological examination. RESULTS: Carriers of the PSEN1 Pro284Leu variant exhibited classic PLS symptoms, including unilateral onset and bulbar syndromes, along with cognitive decline. Neuropathology showed corticospinal tract degeneration without amyloid beta deposition in spinal white matter. DISCUSSION: Our findings suggest an overlap between PLS and AD pathology in PSEN1 variant carriers. Results support considering PLS when diagnosing AD-related motor syndromes and including PSEN1 evaluation when performing genetic testing for PLS. The study highlights the need for further research to clarify the PLS-AD relationship, informing future treatments and clinical trials. HIGHLIGHTS: Pathogenic variants in presenilin 1 (PSEN1) can manifest as hereditary primary lateral sclerosis PSEN1 Pro284Leu carriers present motor, cognitive, and behavioral alterations  Cases had corticospinal tract microgliosis and severe Aß pathology in motor cortex  There was no evidence of amyloid deposition in the spinal cord white matter  All the neuropathology images are available for online visualization  Myelin pallor in the spinal cord is confined to the lateral corticospinal tracts.


Asunto(s)
Enfermedad de Alzheimer , Presenilina-1 , Humanos , Presenilina-1/genética , Colombia , Femenino , Masculino , Persona de Mediana Edad , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Imagen por Resonancia Magnética , Anciano , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Adulto
6.
J Environ Manage ; 370: 122735, 2024 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-39378807

RESUMEN

The rice industry is of great importance worldwide and within the cereal industrialization process, rice husk is obtained as waste, a by-product with various alternative uses, among others, the obtaining of amorphous silica, a covalent oxide with chemical, structural and textural properties suitable for use as catalytic support. This review shows the potential of rice husk silica in the synthesis of heterogeneous catalysts with transition metals for the oxidation of different polluting molecules present in water, as well as the limitations of the catalytic system and the way to overcome them through new synthesis routes, to obtain single atom catalysts - SACs. The main preparation strategies applied for aqueous phase systems are summarized, as well as the studies of single atom catalysts in oxidation reactions of recalcitrant compounds using silica as support and, finally, the perspectives and opportunities regarding this novel topic.

7.
Mov Disord ; 38(9): 1625-1635, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37469269

RESUMEN

BACKGROUND: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear. OBJECTIVE: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort. METHODS: We used data from three admixed cohorts: (1) Latin American Research consortium on the Genetics of Parkinson's Disease (n = 1504) as discover cohort, and (2) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (3) Bambui Aging cohort (n = 1442) as replication cohorts. We also developed an X-chromosome framework specifically designed for admixed populations. RESULTS: We identified eight linkage disequilibrium regions associated with PD. We replicated one of these regions (top variant rs525496; discovery odds ratio [95% confidence interval]: 0.60 [0.478-0.77], P = 3.13 × 10-5 replication odds ratio: 0.60 [0.37-0.98], P = 0.04). rs5525496 is associated with multiple expression quantitative trait loci in brain and non-brain tissues, including RAB9B, H2BFM, TSMB15B, and GLRA4, but colocalization analysis suggests that rs5525496 may not mediate risk by expression of these genes. We also replicated a previous X-chromosome-wide association study finding (rs28602900), showing that this variant is associated with PD in non-European populations. CONCLUSIONS: Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Cromosomas Humanos X , Enfermedad de Parkinson , Femenino , Humanos , Masculino , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos , América Latina , Enfermedad de Parkinson/genética , Factores Sexuales , Cromosomas Humanos X/genética , Desequilibrio de Ligamiento/genética
8.
Inorg Chem ; 62(26): 10307-10316, 2023 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-37327451

RESUMEN

The benzonitrile solvate {[{Au(C6F5)2}2{Pb(terpy)}]·NCPh}n (1) (terpy = 2,2':6',2″-terpyridine) displays reversible reorientation and coordination of the benzonitrile molecule to lead upon external stimuli. High-pressure X-ray diffraction studies between 0 and 2.1 GPa reveal a 100% of conversion without loss of symmetry, which is totally reversible upon decompression. By variable-temperature X-ray diffraction studies between 100 and 285 K, a partial coordination is achieved.

9.
Molecules ; 28(1)2023 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-36615644

RESUMEN

In this paper, we describe a series of diphenylphosphane and diphenylphosphanide gold(III) and gold(III)/gold(I) complexes containing 3,5-C6Cl2F3 as aryl ligands at gold that have been synthesized due to the arylating and oxidant properties of the new polymeric thallium(III) complex [TlCl(3,5-C6Cl2F3)2]n (1). Its reaction with [Au(3,5-C6Cl2F3)(tht)] (tht = tetrahydrothiophene) produces the gold(III) complex [Au(3,5-C6Cl2F3)3(tht)] (2), which allows the synthesis of the diphenylohosphane derivative [Au(3,5-C6Cl2F3)3(PPh2H)] (3). Its treatment with acetylacetonate gold(I) derivatives leads to two novel AuIII/AuI phosphanido-bridged complexes, [PPN][Au(3,5-C6Cl2F3)3(µ-PPh2)AuCl] (4) and [PPN][{(3,5-C6Cl2F3)3Au(µ-PPh2)}2Au] (5). All these complexes have been characterized, and the crystal structures of 1, 2, 4 and 5 have been established by single crystal X-ray diffraction methods, showing a novel polymeric arrangement in 1.

10.
BMC Oral Health ; 23(1): 674, 2023 09 19.
Artículo en Inglés | MEDLINE | ID: mdl-37723455

RESUMEN

BACKGROUND: Styloid process (SP) is a cylindrical bony projection that originates from the inferior part of the petrous temporal bone just anteriorly to the stylomastoid foramen. Several nerves, muscles, and ligaments are related closely to the (SP). It is considered elongated when the measurement exceeds 30 mm. The overall prevalence of the styloid process is between 3.3% to 84.4%. The elongation of the styloid process (ESP) is associated with the manifestation of Eagle's Syndrome (ES) which is characterized by various types of pain in the head and neck region such as headache, tinnitus, otalgia, and trigeminal neuralgia. Eagle's syndrome occurs in 4-10.3% of individuals with an elongated styloid process (ESP). The objective of the study is to determine the prevalence of (ESP) in the patients who were treated in the Dental Hospital University of Barcelona (HOUB), to review the literature to spot the light on the different demographic data worldwide. METHODS: The archived panoramic image in the University of Barcelona dental Hospital were consecutively retrieved to investigate the prevalence of (ESP). Of all digital panoramic radiographs (OPG), 400 met the inclusion criteria and were furtherly analyzed. The results are correlated with the participant's gender, age, and occurrence. Age is subcategorized into three groups. A chi-square test is used to measure the significant differences and the P-value is set at < 0.05 for the level of significance. RESULTS: Among the included 400, we found 291 demonstrating (ESP). The prevalence of (ESP) which exceeds 30 mm is 72.75%. It is found that the most common morphological type is type 1 which is regarded as the uninterrupted (ESP) regardless of gender and age group. Concerning the calcification pattern, the most prevalent is the partial calcified (ESP) despite genders and age groups. CONCLUSION: (OPG) is a sufficient tool for the screening of the elongated styloid process. Regarding the prevalence, our results are considered higher than previously reported prevalence in different populations using (OPG) radiography tool. A study on a wider spectrum of the Spanish population is recommended to further investigate the correlation between the elongated styloid process and the occurrence of Eagle's syndrome.


Asunto(s)
Calcinosis , Hueso Temporal , Humanos , Femenino , Masculino , Estudios Transversales , Prevalencia , Hueso Temporal/diagnóstico por imagen
11.
Angew Chem Int Ed Engl ; 62(41): e202310314, 2023 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-37615519

RESUMEN

Au⋅⋅⋅H-X (X=N or C) hydrogen bonding is gaining increasing interest, both in the study of its intrinsic nature and in their operability in different fields. While the role of these interactions has been studied in the stabilization of gold(I) complexes, their role during the minimum free energy reaction pathway of a given catalytic process remains unexplored. We report herein that complex [Au(C≡CPh)(pip)] (pip=piperidine) catalyses the A3 -coupling reaction for the synthesis of propargylamines, thanks to the ability of Au(I) to promote weak hydrogen bonding interactions with the reactants along the free energy profile. Density Functional Theory (DFT) calculations show that these Au⋅⋅⋅H-X interactions play a directing role in the catalysed A3 -coupling. Topological non-covalent interactions (NCI), interaction region indicator (IRI) and quantum theory of atoms in molecules (QTAIM) analysis in real space of the electron density provide a description of these interactions accurately.

12.
Ann Neurol ; 90(3): 353-365, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34227697

RESUMEN

OBJECTIVE: This work was undertaken in order to identify Parkinson's disease (PD) risk variants in a Latino cohort, to describe the overlap in the genetic architecture of PD in Latinos compared to European-ancestry subjects, and to increase the diversity in PD genome-wide association (GWAS) data. METHODS: We genotyped and imputed 1,497 PD cases and controls recruited from nine clinical sites across South America. We performed a GWAS using logistic mixed models; variants with a p-value <1 × 10-5 were tested in a replication cohort of 1,234 self-reported Latino PD cases and 439,522 Latino controls from 23andMe, Inc. We also performed an admixture mapping analysis where local ancestry blocks were tested for association with PD status. RESULTS: One locus, SNCA, achieved genome-wide significance (p-value <5 × 10-8 ); rs356182 achieved genome-wide significance in both the discovery and the replication cohorts (discovery, G allele: 1.58 OR, 95% CI 1.35-1.86, p-value 2.48 × 10-8 ; 23andMe, G allele: 1.26 OR, 95% CI 1.16-1.37, p-value 4.55 × 10-8 ). In our admixture mapping analysis, a locus on chromosome 14, containing the gene STXBP6, achieved significance in a joint test of ancestries and in the Native American single-ancestry test (p-value <5 × 10-5 ). A second locus on chromosome 6, containing the gene RPS6KA2, achieved significance in the African single-ancestry test (p-value <5 × 10-5 ). INTERPRETATION: This study demonstrated the importance of the SNCA locus for the etiology of PD in Latinos. By leveraging the demographic history of our cohort via admixture mapping, we identified two potential PD risk loci that merit further study. ANN NEUROL 2021;90:353-365.


Asunto(s)
Sitios Genéticos/genética , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Hispánicos o Latinos/genética , Enfermedad de Parkinson/etnología , Enfermedad de Parkinson/genética , Adulto , Anciano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Polimorfismo de Nucleótido Simple/genética , América del Sur/etnología
13.
Neurocrit Care ; 36(1): 208-215, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34268645

RESUMEN

BACKGROUND: Meta-analyses of observational studies report a 1.1-1.7% pooled risk of stroke among patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection requiring hospitalization, but consultations for stroke and reperfusion procedures have decreased during the outbreak that occurred during the first half of the year 2020. It is still unclear whether a true increase in the risk of stroke exists among patients with coronavirus disease 2019 (COVID-19). In-hospital ischemic stroke (IHIS) complicated the 0.04-0.06% of all admissions in the pre-COVID-19 era, but its incidence has not been assessed among inpatients with COVID-19. We aimed to compare IHIS incidence among patients with SARS-CoV-2 infection with that of inpatients with non-COVID-19 illnesses from the same outbreak period and from previous periods. METHODS: This historical cohort study belongs to the COVID-19@Vallecas cohort. The incidence of IHIS was estimated for patients with SARS-CoV-2 hospitalized during March-April 2020 [COVID-19 cohort (CC)], for patients with non-COVID-19 medical illness hospitalized during the same outbreak period [2020 non-COVID-19 cohort (20NCC)], and for inpatients with non-COVID-19 illness admitted during March-April of the years 2016-2019 [historical non-COVID-19 cohort (HNCC)]. Unadjusted risk of IHIS was compared between the three cohorts, and adjusted incidence rate ratio (IRR) of IHIS between cohorts was obtained by means of Poisson regression. RESULTS: Overall, 8126 inpatients were included in this study. Patients in the CC were younger and more commonly men than those from the HNCC and 20NCC. Absolute risk of IHIS was 0.05% for HNCC, 0.23% for 20NCC, and 0.36% for CC, (p = 0.004 for HNCC vs. CC). Cumulative incidence for IHIS by day nine after admission, with death as a competing risk, was 0.09% for HNCC, 0.23% for 20NCC, and 0.50% for CC. In an adjusted Poisson regression model with sex, age, needing of intensive care unit admission, and cohort (HNCC as reference) as covariates, COVID-19 was an independent predictor for IHIS (IRR 6.76, 95% confidence interval 1.66-27.54, p = 0.01). A nonsignificant increase in the risk of IHIS was observed for the 20NCC (IRR 5.62, 95% confidence interval 0.93-33.9, p = 0.06). CONCLUSIONS: SARS-CoV-2 outbreak was associated with an increase in the incidence of IHIS when compared with inpatients from a historical cohort. Viral infection itself may be related to the increased risk of IHIS among patients with COVID-19, but in view of our results from the 20NCC, it is likely that other factors, such as hospital saturation and overwhelming of health systems, may have played a role in the increased frequency of IHIS.


Asunto(s)
Isquemia Encefálica , COVID-19 , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Isquemia Encefálica/epidemiología , Isquemia Encefálica/etiología , Estudios de Cohortes , Brotes de Enfermedades , Hospitalización , Hospitales , Humanos , Incidencia , Masculino , SARS-CoV-2 , Accidente Cerebrovascular/epidemiología
14.
J Adv Nurs ; 78(11): 3830-3846, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36104982

RESUMEN

AIMS: The aim was to determine the impact of a case management model on indicators of health service utilization, polypharmacy, quality of life and dependency of patients with multimorbidity, and family caregiver overload in a group of patients insured with two insurance companies in the city of Bogotá (Colombia). DESIGN: This was a mixed methods study, which integrated a quantitative and qualitative component. METHODS: The study was conducted between July 2019 and March 2020. A quantitative component is based on a pre-experimental study with a single group and pre- and post-test measurements. Patients with multimorbidity with a medium or high level of complexity were included in the study. A sample of 317 patients and their caregivers was estimated. Following the completion of the intervention, a descriptive study that explored the perspective of nurses, patients and caregivers was developed to better understand the process and results from their own words and experience. A total of 17 dyads of patients and caregivers were interviewed, as well as six nurse managers. The integration strategy was developed based on a comparison made from the perspective of multiple stakeholders. RESULTS: The model's impact on quality of life, particularly in terms of social functioning and mental health, has been documented. Caregiver overload was reduced and an improvement in the adoption of the role was observed, aspects that converge with the experience of the dyads and the caregivers in the support and backing provided by the model. CONCLUSION: The intervention was structured in five modules: case detection, complexity screening, comprehensive assessment with various instruments, individualized care and follow-up plan, and plan assessment. The nurse manager role is confirmed as that of a professional with the leadership capacity to articulate disciplines and actors, whilst also dealing with the day-to-day needs of people with complex health conditions. IMPACT: A comprehensive and integrated approach to patients with multiple diseases in a health insurance context marked by access barriers and fragmentation of health services. The study provides quantitative and qualitative evidence of the benefits of the case management model in Colombia for patients with multiple diseases and their family caregivers, particularly in terms of the psychosocial dimensions of health-related quality of life and dependence assessment. A significant impact on the caregiver role, as well as an improvement in perception and trust in the health system, was observed as a result of the overcoming of administrative barriers achieved by the nurse case manager. The findings are considered to be extremely useful for decision-makers and insurers in developing a case management model focused on comprehensive and individualized care plans, as well as for individuals with multiple diseases and their caregivers.


Asunto(s)
Manejo de Caso , Enfermeras Administradoras , Cuidadores/psicología , Humanos , Multimorbilidad , Calidad de Vida
15.
Mov Disord ; 36(2): 434-441, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33150996

RESUMEN

BACKGROUND: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. METHODS: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. RESULTS: Genome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69-10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10-7 ). CONCLUSIONS: We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.


Asunto(s)
Enfermedad de Parkinson , Edad de Inicio , Variaciones en el Número de Copia de ADN/genética , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos/genética , Humanos , América Latina , Persona de Mediana Edad , Enfermedad de Parkinson/genética
16.
Arch Phys Med Rehabil ; 102(5): 940-950, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33485836

RESUMEN

OBJECTIVE: To analyze the effectiveness of a home-based restorative and compensatory upper limb apraxia (ULA) rehabilitation program. DESIGN: Randomized controlled trial. SETTING: Neurology Unit of San Cecilio Hospital and 2 private and specialized health care centers. PARTICIPANTS: Community dwelling participants (N=38) between the ages of 25 and 95 years old (sex ratio, 1:1) with unilateral mild-to-moderate poststroke lesions (time of evolution since stroke, 12.03±8.98mo) and secondary ULA. INTERVENTIONS: Participants were randomly assigned to an 8-week combined ULA functional rehabilitation group (n=19) 3 days per week for 30 minutes or to a traditional health care education protocol group (n=19) once a month for 8 weeks. Both interventions were conducted at home. MAIN OUTCOME MEASURES: Sociodemographic and clinical data, Barthel Index (primary outcome), Lawton and Brody Scale, observation and scoring activities of daily living, the De Renzi tests for ideational and ideomotor apraxia and imitating gestures test, recognition of gestures, test for upper limb apraxia , and stroke-specific quality of life scale were assessed at 3 time points: baseline, posttreatment (8wk), and follow-up (8wk). RESULTS: There were statistically significant differences among the groups regarding ideomotor apraxia, imitating gestures, global recognition of gestures, intransitive gestures, and comprehension of gesture production (P<.05) in favor of the experimental group. However, no statistically significant differences were found between the groups regarding functionality or quality of life (P>.05). Regarding the within-group effect, statistically significant differences were found in all neuropsychological outcomes at posttreatment and follow-up (P<.05). CONCLUSION: A functional rehabilitation program was found to be superior to a traditional health care education program and resulted in improvements in neuropsychological functioning in ULA poststroke. Conventional education showed an insufficient effect on apraxia recovery. Further studies with larger sample sizes are needed to determine the effect of rehabilitation strategies on functionality and quality of life of poststroke ULA patients.


Asunto(s)
Apraxias/fisiopatología , Apraxias/rehabilitación , Rehabilitación de Accidente Cerebrovascular/métodos , Extremidad Superior/fisiopatología , Actividades Cotidianas , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida
17.
Angew Chem Int Ed Engl ; 60(2): 640-644, 2021 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-33006214

RESUMEN

The assembly of two different building blocks, [{Au(C6 F5 )2 }{PbCl(terpy)}] (terpy=2,2':6':2''-terpyridine) and [{Au(C6 F5 )2 }2 {Pb(terpy)}]n , acting as terminal or central pieces, respectively, gives rise to a decanuclear complex built via metallophilic and π-stacking interactions in which the number of AuI ⋅⋅⋅AuI and AuI ⋅⋅⋅PbII contacts is finely controlled.

18.
Indian J Palliat Care ; 27(1): 23-30, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34035613

RESUMEN

AIMS: The death of a child with cancer can be devastating for his or her parents. This study sought to understand the way in which the process of parental grief develops after the death of a child with cancer. METHODS: The research used a grounded theory approach, in which 18 participants were enrolled including parents whose child died from cancer 5 months to 5 years before. In-depth interviews were conducted, which were analyzed using constant comparisons until theoretical saturation was reached. RESULTS: Fifteen subcategories were identified and grouped into three categories that explain what the grieving process represents to the parents over time (a) crossing a desert, (b) dying while alive, and (c) coming back to life. From the emerging relationships among the categories, the core category "seeking adjustment from the unnatural to the supernatural" arises. The results show that grief begins from the moment of diagnosis until long after the child's death. For parents, it entails understanding the disruption in the natural course of life, going through indescribable pain, and being spiritually reconnected with their child. CONCLUSIONS: These results enable nurses to design comprehensive interventions that meet the described needs of these parents.

19.
Clin Rehabil ; 34(5): 595-606, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32141306

RESUMEN

OBJECTIVE: To analyze the effectiveness of an electrotherapy intervention with galvanic current on symptoms associated with Raynaud's phenomenon. DESIGN: Single-blind randomized controlled trial, parallel design (1:1 ratio) and intention-to-treat analysis. SETTING: Virgen de las Nieves Hospital, Granada, Spain. SUBJECTS: Thirty-four participants with Raynaud's phenomenon, with a mean (SD) age of 43.43 (17.62) years. INTERVENTIONS: The patients were randomly assigned to a control group with conservative treatment (anti-inflammatory, vasodilatory and analgesic drugs) or an intervention group that received conservative treatment and vasodilatory electrical stimulation during seven weeks, three times/week for a total of 20 sessions. MAIN MEASURES: The primary outcome was the number of attacks. Secondary outcomes were pain, peripheral blow flow, oxygen saturation, upper limb disability, central sensitization, pain catastrophizing and temperature recovery. All outcomes were assessed at baseline, posttreatment and at two months of follow-up. RESULTS: The galvanic current electrotherapy group showed significantly greater improvements in the number of attacks (mean difference = 26.3, 95% confidence interval (CI) = 14.4 to 38.3), pre-cold stress pain (95% CI = 0.6 to 2.4), radial artery blood flow (95% CI = -7.8 ⩾ x ⩽ 1.3), ulnar artery blood flow (95% CI = -8.63 to 0.60), oxygen saturation (95% CI = -1.7 ⩾ x ⩽ -0.29), upper limb disability (95% CI = 1.1 to 22.3), central sensitization (95% CI = 6.7 to 18.2) and temperature recovery (95% CI = -5.7 ⩾ x ⩽ -0.32) than the conservative treatment group. CONCLUSION: This study suggests that a complementary treatment with galvanic current in combination to conservative approach is superior to conservative applied as isolate, in reducing the clinical manifestations and disability in Raynaud's phenomenon.


Asunto(s)
Tratamiento Conservador , Terapia por Estimulación Eléctrica , Enfermedad de Raynaud/terapia , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Raynaud/fisiopatología , Método Simple Ciego , España , Resultado del Tratamiento , Vasodilatación
20.
Am J Physiol Heart Circ Physiol ; 317(2): H290-H299, 2019 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-31125256

RESUMEN

The aim of this study was to find out whether dietary supplementation with Calanus oil (a novel marine oil) or infusion of exenatide (an incretin mimetic) could counteract obesity-induced alterations in myocardial metabolism and improve postischemic recovery of left ventricular (LV) function. Female C57bl/6J mice received high-fat diet (HFD, 45% energy from fat) for 12 wk followed by 8-wk feeding with nonsupplemented HFD, HFD supplemented with 2% Calanus oil, or HFD plus exenatide infusion (10 µg·kg-1·day-1). A lean control group was included, receiving normal chow throughout the whole period. Fatty acid and glucose oxidation was measured in ex vivo perfused hearts during baseline conditions, while LV function was assessed with an intraventricular fluid-filled balloon before and after 20 min of global ischemia. HFD-fed mice receiving Calanus oil or exenatide showed less intra-abdominal fat deposition than mice receiving nonsupplemented HFD. Both treatments prevented the HFD-induced decline in myocardial glucose oxidation. Somewhat surprising, recovery of LV function was apparently better in hearts from mice fed nonsupplemented HFD relative to hearts from mice fed normal chow. More importantly however, postischemic recovery of hearts from mice receiving HFD with Calanus oil was superior to that of mice receiving nonsupplemented HFD and mice receiving HFD with exenatide, as expressed by better pressure development, contractility, and relaxation properties. In summary, dietary Calanus oil and administration of exenatide counteracted obesity-induced derangements of myocardial metabolism. Calanus oil also protected the heart from ischemia, which could have implications for the prevention of obesity-related cardiac disease. NEW & NOTEWORTHY This article describes for the first time that dietary supplementation with a low amount (2%) of a novel marine oil (Calanus oil) in mice is able to prevent the overreliance of fatty acid oxidation for energy production during obesity. The same effect was observed with infusion of the incretin mimetic, exanatide. The improvement in myocardial metabolism in Calanus oil-treated mice was accompanied by a significantly better recovery of cardiac performance following ischemia-reperfusion. Listen to this article's corresponding podcast at https://ajpheart.podbean.com/e/dietary-calanus-oil-energy-metabolism-and-cardiac-function/ .


Asunto(s)
Copépodos , Metabolismo Energético , Daño por Reperfusión Miocárdica/dietoterapia , Miocardio/metabolismo , Obesidad/complicaciones , Aceites/administración & dosificación , Función Ventricular Izquierda , Alimentación Animal , Animales , Modelos Animales de Enfermedad , Exenatida/administración & dosificación , Ácidos Grasos/metabolismo , Femenino , Glucosa/metabolismo , Incretinas/administración & dosificación , Preparación de Corazón Aislado , Ratones Endogámicos C57BL , Contracción Miocárdica , Daño por Reperfusión Miocárdica/etiología , Daño por Reperfusión Miocárdica/metabolismo , Daño por Reperfusión Miocárdica/fisiopatología , Aceites/metabolismo , Recuperación de la Función , Presión Ventricular
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