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1.
Epilepsy Behav ; 155: 109803, 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38663143

RESUMO

OBJECTIVE: To estimate the prevalence of epilepsy and febrile seizures and their association with genotype, i.e., 15q11-q13 deletions, uniparental chromosome 15 disomy (UPD) and other mutations, in the population with Prader-Willi syndrome (PWS). METHODS: A systematic search of Medline, Scopus, Web of Science and the Cochrane Library was conducted. Studies estimating the prevalence of seizures, epilepsy and febrile seizures in the PWS population were included. Meta-analyses of the prevalence of epilepsy and febrile seizures and their association with genotype using the prevalence ratio (PR) were performed. RESULTS: Fifteen studies were included. The prevalence of epilepsy was 0.11 (0.07, 0.15), similar to the prevalence of febrile seizures, with a prevalence of 0.09 (0.05, 0.13). The comparison "deletion vs. UPD" had a PR of 2.03 (0.90, 4.57) and 3.76 (1.54, 9.18) for epilepsy and febrile seizures. CONCLUSIONS: The prevalence of seizure disorders in PWS is higher than in the general population. In addition, deletions in 15q11-q13 may be associated with a higher risk of seizure disorders. Therefore, active screening for seizure disorders in PWS should improve the lives of these people. In addition, genotype could be used to stratify risk, even for epilepsy, although more studies or larger sample sizes are needed.

2.
Nutrients ; 16(6)2024 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-38542702

RESUMO

Previous evidence associates insulin resistance with arterial stiffness in various pathologies, yet limited reports exist in healthy adults. Therefore, this study aims to estimate the association between insulin resistance and arterial stiffness in healthy adults. The cross-sectional EVasCu study enrolled 390 participants (42.05 ± 13.15 years). ANCOVAs, unadjusted (model 1) and adjusted (model 2), explored the association between arterial stiffness markers (aortic Pulse Wave Velocity [aPWV], Augmentation Index [AIx@75] and Cardio-Ankle Vascular Index [CAVI]), and insulin resistance markers (Homeostasis Model Assessment of Insulin Resistance [HOMA-IR], Quantitative Insulin Sensitivity Check Index [QUICKI] and Triglycerides-Glucose [TyG]). In model 1, all insulin resistance markers were associated with aPWV, HOMA-IR and QUICKI were associated with AIx@75, and the TyG index was associated with CAVI. In model 2, HOMA-IR and QUICKI increased aPWV by 0.179 and 0.156 m/s (p = 0.001 and p = 0.011), and AIx@75 by 4.17 and 5.39% (p = 0.009 and p = 0.003). The EVasCu study offers valuable insights into the relationship between insulin resistance and arterial stiffness in healthy adults, providing a deeper understanding of metabolic and cardiovascular health. By examining this influence, we embark on an intriguing exploration of how these factors interplay in the human body.


Assuntos
Doenças Cardiovasculares , Resistência à Insulina , Rigidez Vascular , Adulto , Humanos , Análise de Onda de Pulso , Estudos Transversais , Fatores de Risco , Glucose , Triglicerídeos
3.
Pharmaceuticals (Basel) ; 17(3)2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38543096

RESUMO

BACKGROUND: Spasticity is a very common neurological sequelae that significantly impacts the quality of life of patients, affecting more than 12 million people worldwide. Botulinum toxin is considered a reversible treatment for spasticity, but due to the large amount of available evidence, synthesis seems necessary. Therefore, we conducted an overview of existing systematic reviews and meta-analyses to evaluate the effect of botulinum toxin injections in the treatment of spasticity of different etiologies. METHODS: A systematic search of different databases, including Pubmed, Scopus, the Cochrane Library, and Web of Science, was performed from inception to February 2024. Standardized mean differences (SMDs) and their respective 95% confidence intervals (CIs) were calculated to assess the effect of botulinum toxin compared to that of the control treatment using the Modified Ashworth Scale (MAS). All the statistical analyses were performed using STATA 15 software. RESULTS: 28 studies were included in the umbrella review. The effect of botulinum toxin injections on spasticity, as measured by the MAS, was significantly lower in all but three studies, although these studies also supported the intervention. The SMDs reported by the meta-analyses ranged from -0.98 to -0.01. CONCLUSION: Botulinum toxin injections were effective at treating spasticity of different etiologies, as indicated by the measurements on the MAS. This implies an improvement in muscle tone and, consequently, in the patient's mobility and quality of life.

4.
Cardiovasc Diabetol ; 23(1): 33, 2024 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-38218806

RESUMO

BACKGROUND: Cardiovascular diseases (CVDs) remain a major global health concern, necessitating advanced risk assessment beyond traditional factors. Early vascular aging (EVA), characterized by accelerated vascular changes, has gained importance in cardiovascular risk assessment. METHODS: The EVasCu study in Spain examined 390 healthy participants using noninvasive measurements. A construct of four variables (Pulse Pressure, Pulse Wave Velocity, Glycated Hemoglobin, Advanced Glycation End Products) was used for clustering. K-means clustering with principal component analysis revealed two clusters, healthy vascular aging (HVA) and early vascular aging (EVA). External validation variables included sociodemographic, adiposity, glycemic, inflammatory, lipid profile, vascular, and blood pressure factors. RESULTS: EVA cluster participants were older and exhibited higher adiposity, poorer glycemic control, dyslipidemia, altered vascular properties, and higher blood pressure. Significant differences were observed for age, smoking status, body mass index, waist circumference, fat percentage, glucose, insulin, C-reactive protein, diabetes prevalence, lipid profiles, arterial stiffness, and blood pressure levels. These findings demonstrate the association between traditional cardiovascular risk factors and EVA. CONCLUSIONS: This study validates a clustering model for EVA and highlights its association with established risk factors. EVA assessment can be integrated into clinical practice, allowing early intervention and personalized cardiovascular risk management.


Assuntos
Doenças Cardiovasculares , Rigidez Vascular , Humanos , Fatores de Risco , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Análise de Onda de Pulso , Medição de Risco , Fatores de Risco de Doenças Cardíacas , Envelhecimento , Lipídeos
5.
Eur J Pediatr ; 183(2): 739-748, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37979050

RESUMO

To analyse the relationship between steps per day and health-related quality of life (HRQoL) and cardiorespiratory fitness (CRF) and to examine whether the relationship between steps per day and HRQoL is mediated by CRF in schoolchildren. This was a cross-sectional study including 501 schoolchildren (aged 9-12 years, 47% girls), from Cuenca, Spain. Steps per day were measured using the Xiaomi Mi Band 3 Smart Bracelet, HRQoL was estimated by the KIDSCREEN-27 questionnaire, and CRF was assessed using the 20-m shuttle run test. Analysis of covariance and multivariate analysis of covariance models showed that children with a higher mean number of steps per day (> 9000 steps/day) had better HRQoL (global score, and physical and psychological well-being) and higher CRF levels than their peers with a lower number of steps per day (p < 0.05); however, these differences were no longer significant when controlling for sex, age, mother's education level, and CRF (p > 0.05). Linear regression models estimated that each 1000-step increment was associated with better CRF (ß = 0.350; 95% CI, 0.192 to 0.508). In addition, the relationship between steps per day and HRQoL was mediated by CRF (p < 0.05).    Conclusion: Steps per day are a good metric to estimate daily physical activity because of its positive relationship with CRF. Moreover, those children taking more than 9000 steps per day are associated with higher levels of physical and psychological well-being. Finally, a substantial part of the improvement in HRQoL achieved through the increase in physical activity (steps per day) is mediated by CRF. What is Known: • Physical activity is known to have a positive impact on health-related quality of life in children. Steps per day are commonly used as a measure of physical activity. • Cardiorespiratory fitness is a recognized indicator of overall health in youth. What is New: • Increments of steps per day were associated with better CRF, with a nonlinear association after approximately 9000 steps/day. • Schoolchildren with > 9000 steps/ day showed better HRQoL.


Assuntos
Aptidão Cardiorrespiratória , Criança , Adolescente , Feminino , Humanos , Masculino , Qualidade de Vida/psicologia , Estudos Transversais , Exercício Físico/psicologia , Espanha , Aptidão Física
6.
Acta Paediatr ; 113(2): 296-302, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37950143

RESUMO

AIM: To analyse, in schoolchildren, the relationship between daily steps with metabolic parameters; and to examine whether this association is mediated by cardiorespiratory-fitness (CRF). METHODS: A cross-sectional analysis of baseline data from a feasibility trial was performed in children from two primary schools in Cuenca, Spain. Daily steps were measured using the Xiaomi MI Band 3. Lipid and glycaemic profiles were analysed from blood samples. CRF was assessed using the 20-m shuttle run test. ANCOVA models were used to test the mean differences by daily steps quartiles. Mediation analyses were conducted to examine whether CRF mediates the association between daily steps and lipid and glycaemic parameters. RESULTS: A total of 159 schoolchildren (aged 9-12 years, 53% female) were included in the analysis. Schoolchildren in the highest daily steps quartiles (>10 000 steps) showed significantly lower triglycerides and insulin levels (p = 0.004 and 0.002, respectively). This association did not remain after controlling for CRF. In mediation analyses, a significant indirect effect was observed through CRF in the relationship between daily steps with triglycerides and insulin. CONCLUSION: Children who daily accumulate more than 10 000 steps have better lipid and metabolic profile, and CRF mediated their relationship in schoolchildren.


Assuntos
Aptidão Cardiorrespiratória , Insulinas , Criança , Humanos , Feminino , Masculino , Índice de Massa Corporal , Estudos Transversais , Triglicerídeos , Lipídeos
7.
Pharmacotherapy ; 44(1): 97-105, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37574770

RESUMO

This systematic review and meta-analysis aimed to assess the efficacy and safety of risdiplam on motor and respiratory function in spinal muscular atrophy (SMA). We systematically searched Medline, Scopus, Web of Science, and the Cochrane Library from inception to March 2023. We included pre-post studies that determined the effect of risdiplam on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), the 32-item Motor Function Measure (MFM32), the Revised Upper Limb Module (RULM), the Hammersmith Functional Motor Scale - Expanded (HFMSE), respiratory function, and the proportion of risdiplam-related adverse events in a population with SMA (phenotypes 1 and 2/3). Meta-analyses were also performed where possible. Eleven studies were included. After 12 months of treatment, 57% of participants with SMA1 achieved a CHOP-INTEND score ≥ 40 points, and more than half were able to feed orally and had head control. In SMA2/3, MFM32, RULM, and HFMSE increased by 2.09 (1.17, 3.01), 1.73 (1.25, 2.20), and 1.00 (0.40, 1.59) points, respectively. Efficacy on respiratory function in SMA2/3 was inconsistent. Finally, 16% of participants experienced adverse events, but serious adverse events could not be quantified due to a lack of cases. The limited available evidence suggests that risdiplam is an effective and safe drug for the treatment of SMA. In addition, long-term clinical benefit may be partly determined by the stage of disease at which treatment is initiated.


Assuntos
Compostos Azo , Atrofia Muscular Espinal , Pirimidinas , Atrofias Musculares Espinais da Infância , Criança , Lactente , Humanos , Atrofias Musculares Espinais da Infância/tratamento farmacológico , Atrofia Muscular Espinal/tratamento farmacológico
8.
Diabetes Metab Res Rev ; 40(2): e3721, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37672325

RESUMO

Diabetic retinopathy (DR) is a public health problem and a common cause of blindness. It is diagnosed by fundus examination; however, this is a costly and time-consuming method. Non-invasive skin autofluorescence (SAF) may be an accessible, fast and simple alternative for screening and early diagnosis of DR. The aim of this study was to evaluate the accuracy of SAF as a screening method for DR. A systematic search of MEDLINE, Scopus, and Web of Science databases was performed. Random effects models for sensitivity, specificity, positive likelihood ratio (PLR) and negative likelihood ratio (NLR), diagnostic odds ratio (dOR) value and 95% CIs were used to calculate test accuracy. In addition, hierarchical summary receiver operating characteristic curves (HSROC) were used to summarise the overall test performance. Four studies were included in the meta-analysis. Pooled sensitivity and specificity were 0.79 (95% CI 0.72-0.88; I2  = 0.0%) and 0.54 (95% CI 0.32-0.92; I2  = 97.0%), respectively. The dOR value for the diagnosis of DR using SAF was 5.11 (95% CI 1.81-14.48: I2  = 85.9%). The PRL was 2.17 (95% CI 0.62-7.64) and the NRL was 0.27 (95% CI 0.07-1.03). Heterogeneity was not relevant in sensitivity and considerable in specificity. The 95% confidence region of the HSROC included all studies. SAF as a screening test for DR shows sufficient accuracy for its use in clinical settings. SAF may be an appropriate method for DR screening, and further research is needed to recommend it as a diagnostic method.


Assuntos
Diabetes Mellitus , Retinopatia Diabética , Humanos , Retinopatia Diabética/diagnóstico , Programas de Rastreamento/métodos , Sensibilidade e Especificidade , Curva ROC , Pele
9.
Ann Phys Rehabil Med ; 67(2): 101792, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38128349

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) has systemic consequences and causes structural abnormalities throughout the respiratory system. It is associated with a high clinical burden worldwide. AIM: A network meta-analysis was performed to determine the effects of exercise programs on lung function measured by forced expiratory volume in the first second (FEV1), FEV1 as a percentage of the predicted value (FEV1%) and forced vital capacity in people with COPD. METHODS: A literature search was performed to March 2023. Randomized controlled trials on the effectiveness of exercise programs on lung function in people with COPD were included. A standard pairwise meta-analysis and a network meta-analysis for direct and indirect comparisons between intervention and control/nonintervention groups were carried out to calculate the standardized mean difference and 95 % CI. The risk of bias was assessed using the Cochrane Risk of Bias tool and the Grading of Recommendations, Assessment, Development, and Evaluation tool was used to assess the quality of the evidence. RESULTS: 35 studies with a total sample of 2909 participants were included in this network meta-analysis. The highest standardized mean difference was for active mind body movement therapy programs versus control for FEV1 and FEV1% (0.71; 95 % CI 0.32 to1.09; and 0.36; 95 % CI 0.15 to 0.58, respectively), and pulmonary rehabilitation+active mind body movements therapies versus control for forced vital capacity (0.45; 95 % CI 0.07 to 0.84). CONCLUSIONS: active mind body movement therapy programs were the most effective type of exercise program to improve lung function measured by FEV1 and FEV1%; pulmonary rehabilitation+active mind body movements therapies had the greatest effects on FVC in people with COPD. Exercise programs in which the abdominal muscles are strengthened could improve lung emptying, helping to overcome airway resistance in people with COPD.


Assuntos
Doença Pulmonar Obstrutiva Crônica , Qualidade de Vida , Humanos , Metanálise em Rede , Pulmão , Terapia por Exercício
10.
Cardiovasc Diabetol ; 22(1): 209, 2023 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-37592251

RESUMO

BACKGROUND: The concept of early vascular aging (EVA) represents a potentially beneficial model for future research into the pathophysiological mechanisms underlying the early manifestations of cardiovascular disease. For this reason, the aims of this study were to verify by confirmatory factor analysis the concept of EVA on a single factor based on vascular, clinical and biochemical parameters in a healthy adult population and to develop a statistical model to estimate the EVA index from variables collected in a dataset to classify patients into different cardiovascular risk groups: healthy vascular aging (HVA) and EVA. METHODS: The EVasCu study, a cross-sectional study, was based on data obtained from 390 healthy adults. To examine the construct validity of a single-factor model to measure accelerated vascular aging, different models including vascular, clinical and biochemical parameters were examined. In addition, unsupervised clustering techniques (using both K-means and hierarchical methods) were used to identify groups of patients sharing similar characteristics in terms of the analysed variables to classify patients into different cardiovascular risk groups: HVA and EVA. RESULTS: Our data show that a single-factor model including pulse pressure, glycated hemoglobin A1c, pulse wave velocity and advanced glycation end products shows the best construct validity for the EVA index. The optimal value of the risk groups to separate patients is K = 2 (HVA and EVA). CONCLUSIONS: The EVA index proved to be an adequate model to classify patients into different cardiovascular risk groups, which could be valuable in guiding future preventive and therapeutic interventions.


Assuntos
Doenças Cardiovasculares , Humanos , Adulto , Fatores de Risco , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Estudos Transversais , Análise de Onda de Pulso , Fatores de Risco de Doenças Cardíacas , Análise Fatorial , Envelhecimento
11.
Nutrients ; 15(12)2023 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-37375690

RESUMO

Background: The objective of this systematic review and meta-analysis was: (i) to examine the association between wine consumption and cardiovascular mortality, cardiovascular disease (CVD), and coronary heart disease (CHD) and (ii) to analyse whether this association could be influenced by personal and study factors, including the participants' mean age, the percentage of female subjects, follow-up time and percentage of current smokers. Methods: In order to conduct this systematic review and meta-analysis, we searched several databases for longitudinal studies from their inception to March 2023. This study was previously registered with PROSPERO (CRD42021293568). Results: This systematic review included 25 studies, of which the meta-analysis included 22 studies. The pooled RR for the association of wine consumption and the risk of CHD using the DerSimonian and Laird approach was 0.76 (95% CIs: 0.69, 0.84), for the risk of CVD was 0.83 (95% CIs: 0.70, 0.98), and for the risk of cardiovascular mortality was 0.73 (95% CIs: 0.59, 0.90). Conclusions: This research revealed that wine consumption has an inverse relationship to cardiovascular mortality, CVD, and CHD. Age, the proportion of women in the samples, and follow-up time did not influence this association. Interpreting these findings with prudence was necessary because increasing wine intake might be harmful to individuals who are vulnerable to alcohol because of age, medication, or their pathologies.


Assuntos
Doenças Cardiovasculares , Doença das Coronárias , Vinho , Humanos , Feminino , Vinho/efeitos adversos , Causas de Morte
12.
Food Funct ; 14(14): 6302-6311, 2023 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-37350565

RESUMO

Heart failure (HF) is associated with a deficiency in blood levels of coenzyme Q10 (CoQ10), and its supplementation has been proposed. The aim of this systematic review was to synthesise the available evidence on the effects of CoQ10 on cardiac function and quality of life in HF. A systematic search of Medline, Scopus, Web of Science and the Cochrane Library was conducted from inception until March 2023. Meta-analyses measuring the effect of CoQ10 on cardiac function [i.e., ejection fraction (EF), cardiac output (CO), cardiac index (CI), stroke volume (SV)], quality of life [i.e., mortality, exercise capacity, and New York Heart Association (NYHA) classification], and CoQ10 levels in HF were included. Ten meta-analyses met the inclusion criteria. CoQ10 had an effect on EF in 6 of the 9 studies, with an increase of 1.77% (0.10, 3.44) to 3.81% (1.22, 6.40), while it had an effect on CO, CI and SV in one of the two studies. Moreover, CoQ10 did not improve exercise capacity and only one study showed an effect on NYHA classification, while there was a risk ratio (RR) of 0.69 (0.50, 0.95) to 0.58 (0.35, 0.95) in favour of CoQ10 for mortality and a RR of 0.62 (0.49, 0.78) for hospitalisations. Finally, CoQ10 levels were found to increase by 1.40 µg mL-1 in all studies. CoQ10 showed a possible beneficial effect on heart function, which was associated with a reduction in mortality and hospitalisations. However, more research is needed into the conditions that may optimise CoQ10 therapy.


Assuntos
Insuficiência Cardíaca , Qualidade de Vida , Humanos , Insuficiência Cardíaca/tratamento farmacológico , Volume Sistólico , Revisões Sistemáticas como Assunto , Metanálise como Assunto
13.
J Clin Med ; 12(10)2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37240641

RESUMO

(1) Background: Heart failure (HF) with preserved ejection fraction (HFpEF) accounts for approximately 50% of all patients with HF. In the absence of pharmacological treatments that have been successful in reducing mortality or morbidity in this pathology, physical exercise is recognized as an important adjunct in the treatment of HF. Therefore, the objective of this study is to compare the efficacy of combined training and high intensity interval training (HIIT) on exercise capacity, diastolic function, endothelial function, and arterial stiffness in participants with HFpEF. (2) Methods: The ExIC-FEp study will be a single-blind, 3-arm, randomized clinical trial (RCT) conducted at the Health and Social Research Center of the University of Castilla-La Mancha. Participants with HFpEF will be randomly assigned (1:1:1) to the combined exercise, HIIT or control group to evaluate the efficacy of physical exercise programs on exercise capacity, diastolic function, endothelial function, and arterial stiffness. All participants will be examined at baseline, at three months and at six months. (3) Results: The findings of this study will be published in a peer-reviewed journal. (4) Conclusions: This RCT will represent a significant advance in the available scientific evidence on the efficacy of physical exercise in the treatment of HFpEF.

14.
Eur J Cardiovasc Nurs ; 22(7): 669-678, 2023 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-36718092

RESUMO

AIMS: This network meta-analysis aimed to compare the effect of different types of physical exercise [endurance training, endurance/resistance training, and high-intensity interval training (HIIT)] on exercise capacity and cardiac function parameters in patients with heart failure with preserved ejection fraction. METHODS AND RESULTS: A systematic search of the MEDLINE (via PubMed), Scopus, and Web of Science databases was conducted to identify experimental studies addressing the effect of different physical exercise training programmes on exercise capacity and cardiac function in heart failure with preserved ejection fraction. Comparative evaluation of the effect of exercise training type was performed by conducting a standard pairwise meta-analysis and a network meta-analysis for direct and indirect comparisons between exercise training types and controls/non-interventions. Eleven studies were included in the analysis showing that endurance training improves the main exercise capacity parameters (VO2peak, workload, exercise time, peak heart rate, VO2, and 6 min walk distance). Additionally, endurance/resistance training showed a significant effect on VO2peak, workload, early mitral annulus velocity, and early mitral/mitral annulus velocity ratio. Finally, HIIT showed a significant effect on VO2peak, VO2, and the early mitral/mitral annulus velocity ratio. CONCLUSION: Our findings support the effect of three different types of physical exercise on exercise capacity, mainly VO2peak. Additionally, endurance/resistance training and HIIT could reverse left ventricular remodelling in patients with heart failure with preserved ejection fraction. REGISTRATION: PROSPERO: CRD42021276111.


Assuntos
Tolerância ao Exercício , Insuficiência Cardíaca , Humanos , Terapia por Exercício/métodos , Metanálise em Rede , Exercício Físico , Insuficiência Cardíaca/terapia , Função Ventricular Esquerda , Volume Sistólico
15.
Hum Gene Ther ; 34(3-4): 129-138, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36136906

RESUMO

One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene abeparvovec, which transduces motor neurons with the survival of motor neuron gene. The aim of this meta-analysis was to estimate the effect of onasemnogene abeparvovec on motor function in participants with type 1 SMA. Medline, Web of Science, Scopus, and Cochrane Library were searched for studies published from inception to August 2022. Pre-post clinical trials and observational studies determining the effect of onasemnogene abeparvovec on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score or motor milestones (i.e., head control, sit unassisted, feed orally, not use permanent ventilatory support, crawl, stand alone, and walk alone) in participants with type 1 SMA were included. Continuous outcomes (i.e., CHOP-INTEND score) were expressed as pre-post mean difference and 95% confidence interval (CI), while the proportion of participants who achieved >40, >50, and >58/60 points on the CHOP-INTEND and the achievement of the motor milestones were expressed as proportions and 95% CI. A random effects meta-analysis was conducted on each outcome, and the baseline CHOP-INTEND score was considered a covariate. Eleven studies were included in the systematic review, and four were included in the meta-analyses. Onasemnogene abeparvovec improved CHOP-INTEND scores by 11.06 (9.47 to 12.65) and 14.14 (12.42 to 15.86) points at 3 and 6 months postinfusion, respectively. Moreover, 87%, 51%, and 12% achieved CHOP-INTEND scores of >40, >50, and >58/60 points, respectively. However, this proportion increased to 100% in presymptomatic participants with greater baseline CHOP-INTEND. Motor milestones were also improved, especially in presymptomatic participants. Our systematic review not only showed a marked improvement in motor function in type 1 SMA but also showed that treatment in the presymptomatic stage improves the development of these children toward an evolution close to normal for their age.


Assuntos
Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Lactente , Criança , Humanos , Terapia Genética , Atrofias Musculares Espinais da Infância/tratamento farmacológico , Atrofias Musculares Espinais da Infância/genética , Neurônios Motores
16.
Dev Med Child Neurol ; 65(6): 734-744, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36440509

RESUMO

AIM: To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71. METHOD: Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta-analyses of IDD prevalence and prevalence ratios of the IDD-genotype association were conducted. RESULTS: Forty-nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0-11.0), and in DMD it was 22.0% (18.0-27.0). Meta-analyses of IDD-genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28-0.64) and 0.17 (0.09-0.34) for Dp140+ /Dp71+ versus Dp140- /Dp71+ and Dp140+ /Dp71+ versus Dp140- /Dp71- comparisons respectively. However, in BMD, there was no association for Dp140+ /Dp71+ versus Dp140- /Dp71+ . INTERPRETATION: There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD. WHAT THIS PAPER ADDS: The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427- /Dp140+ /Dp71+ , Dp427- /Dp140- /Dp71+ , and Dp427- /Dp140- /Dp71- genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.


Assuntos
Deficiência Intelectual , Distrofia Muscular de Duchenne , Criança , Humanos , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/epidemiologia , Distrofia Muscular de Duchenne/genética , Distrofina/genética , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/complicações , Prevalência , Deficiência Intelectual/complicações , Isoformas de Proteínas/genética
17.
Med. paliat ; 28(4): 258-260, oct.-dic. 2021.
Artigo em Espanhol | IBECS | ID: ibc-225453

RESUMO

La paniculitis mesentérica es una entidad poco frecuente, y menos aún detectada salvo de modo incidental. Sin embargo, puede estar asociada a sintomatología muy prevalente en cuidados paliativos. Presentamos un caso que ilustra esta problemática, a modo de reflexión. (AU)


Mesenteric panniculitis is a rare condition that is even rarer to detect except incidentally. However, it may be associated with very prevalent symptoms in the setting of palliative care. We report a case that illustrates this problem in order to invite reflection. (AU)


Assuntos
Humanos , Masculino , Idoso , Paniculite Peritoneal/diagnóstico por imagem , Cuidados Paliativos , Avaliação de Sintomas , Constipação Intestinal , Dor
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