Influence of ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms on body weight and body composition changes after a controlled weight-loss intervention

The β-2 and β-3 adrenergic receptors (ADRB2 and ADRB3) are thought to play a role in energy expenditure and lipolysis. However, the effects of the ADRB2 glutamine (Gln) 27 glutamic acid (glutamate) (Glu) and ADRB3 tryptophan (Trp) 64 arginine (Arg) polymorphisms on weight loss remain controversial. The aim of this study was to investigate the effect of these polymorphisms on changes in weight and body composition during a controlled weight-loss program. One hundred seventy-three healthy overweight and obese participants (91 women, 82 men) aged 18–50 years participated in a 22-week-long intervention based on a hypocaloric diet and exercise. They were randomly assigned to 1 of 4 groups: strength, endurance, strength and endurance combined, and physical activity recommendations only. Body weight, body mass index (BMI), and body composition variables were assessed before and after the intervention. Genetic analysis was carried out according to standard protocols. No effect of the ADRB2 gene was shown on final weight, BMI, or body composition, although in the supervised male group, Glu27 carriers tended to have greater weight (p = 0.019, 2.5 kg) and BMI (p = 0.019, 0.88 kg/m2) reductions than did noncarriers. There seems to be an individual effect of the ADRB3 polymorphism on fat mass (p = 0.004) and fat percentage (p = 0.036), in addition to an interaction with exercise for fat mass (p = 0.038). After the intervention, carriers of the Arg64 allele had a greater fat mass and fat percentage than did noncarriers (p = 0.004, 2.8 kg). In conclusion, the ADRB2 Gln27Glu and ADRB3 Trp64Arg polymorphisms may influence weight loss and body composition, although the current evidence is weak; however, further studies are necessary to clarify their roles. </jats:p

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Comparison between different methods for measuring body fat after a weight loss program = Comparação entre diferentes métodos para mensuração da gordura corporal após um programa de perda de peso

Introduction. Accurate and sensitive measurement of body composition is an important tool in the diagnosis and control of obesity. Objective. To compare body fat changes measured by dual-energy X-ray absorptiometry (DXA), bioelectrical impedance analysis (BIA), and skinfolds (SK) in healthy overweight adults in order to evaluate whether all three methods can be used during a weight loss program (WLP). Methods. Eighty-four men (n=36) and women (n=48), body mass index 25–29.9 kg/m2, aged between 18-50 years, non-smokers and sedentary, were randomly assigned to strength, endurance, combined strength plus endurance, or physical activity recommendations groups. All subjects followed a hypocaloric diet (25-30% decrease in energy intake in terms of the total daily energy expenditure). The intervention lasted 22 weeks. Results. The highest correlation was obtained between DXA and SK when men and women were studied together (r=0.864, p0.05) when changes in body fat caused by intervention were analyzed. However, considering results of the minimal difference compared to DXA, BIA showed the greatest sensitivity to detect changes in fat percentage and fat mass, while SK underestimated the changes, with a significantly lower percentage considered real (p=0.01). Conclusion. The SK method seems to underestimate real changes, therefore DXA and BIA can serve as more effective tools to measure the change in fat percentage and fat mass during WLP. Level of evidence II, Diagnosis. Introdução. A mensuração precisa e sensível da composição corporal é uma importante ferramenta para o diagnóstico e controle da obesidade. Objetivo. Comparar as alterações da gordura corporal mensuradas através da absorciometria com raios-X de dupla energia (DEXA), análise da impedância bioelétrica (BIA) e dobras cutâneas (DC) em adultos saudáveis com sobrepeso, a fim de avaliar se os três métodos podem ser utilizados durante um programa de perda de peso (PPP). Métodos. Oitenta e quatro homens (n=36) e mulheres (n=48) com índice de massa corporal entre 25-29,9 kg/m2, idade entre 18-50 anos, não-fumantes e sedentários foram divididos aleatoriamente em grupos de de força, resistência, combinados de força mais resistência ou com recomendações de atividade física. Todos os indivíduos seguiram uma dieta hipocalórica (25-30% de redução na ingestão energética em relação ao gasto energético total diário). A intervenção durou 22 semanas. Resultados. A maior correlação foi obtida entre a DEXA e DC quando homens e mulheres foram estudados juntos (r=0,864, p0,05) quando foram analisadas alterações na gordura corporal ocasionadas pela intervenção. No entanto, considerando os resultados da mínima diferença comparados à DEXA, a BIA apresentou maior sensibilidade para detectar mudanças no percentual de gordura e massa gorda, enquanto a DC subestimou as mudanças, com um percentual significativamente mais baixo considerado real (p=0,01). Conclusão. O método de DC parece subestimar as mudanças reais, portanto, a DEXA e BIA podem ser ferramentas mais eficazes para mensurar a alteração no percentual de gordura e a massa gorda durante um PPP. Nível de evidência II, Diagnóstico

A healthy lifestyle is associated with lower arterial stiffness in a metabolically healthy elderly population with overweight or obesity

Depto. de Química FísicaFac. de Ciencias QuímicasTRUEpu

Documento de consenso sobre alteraciones metabólicas y riesgo cardiovascular en pacientes con infección por el VIH

[EN]: Patients with HIV infection have a higher cardiovascular risk than the general population. The identification of patients with high CVR, the implementation of preventive measures and the control of modifiable risk factors, especially in patients on antiretroviral therapy should be part of the management of HIV infection. This document updates the recommendations published in 2014, mainly regarding lipid, glucose, arterial hypertension alterations and cardiovascular risk (CVR). The objective of metabolic monitoring is A1 C ≤7%, similar to that of non-infected population, individualising by age, life expectancy, comorbidities, hypoglycaemia risk and costs. Cardiovascular risk should be calculated in all HIV patients with a risk calculator available for clinical use, even though we recommend the use of REGICOR tables as we are treating the Spanish population. Proper measurement of blood pressure should be a routine practice in the care of patients with HIV infection. The aim of this document is to provide tools for the diagnosis and appropriate treatment of the main metabolic alterations to serve as a reference to professionals who care for people with HIV infection.[ES]: Los pacientes con infección por el VIH presentan un riesgo cardiovascular (RCV) mayor que la población general. La identificación de los pacientes con elevado RCV, la puesta en marcha de medidas preventivas y el control de los factores de riesgo modificables, especialmente en pacientes en tratamiento antirretroviral, deben formar parte del manejo del VIH. El presente documento actualiza las recomendaciones publicadas en el año 2014, sobre todo en lo referente a las alteraciones lipídicas, glucídicas, de hipertensión arterial y RCV. El objetivo de control metabólico es una A1c ≤ 7%, similar a la de la población no infectada, individualizando según edad, expectativa de vida, comorbilidades, riesgo de hipoglucemias y costes. En todos los pacientes con VIH debe calcularse el RCV con alguna calculadora de riesgo disponible para uso clínico, si bien recomendamos el uso de las tablas de Regicor, al tratarse de población española. La medición correcta de la tensión arterial debe ser una práctica rutinaria en la atención a los pacientes con infección por el VIH. El objetivo de este documento es proporcionar herramientas para el diagnóstico y tratamiento adecuado de las principales alteraciones metabólicas para que sirvan de consulta a los profesionales que atienden a personas con el VIH

Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability. Methods A clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygous TRAPPC11 c.1287+5G>A variant is reported. Functional effects of the variant on mitochondrial function were investigated. Results The c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. As novel clinical findings, we found that microcephaly is almost universal and that infections in the first years of life seem to act as triggers for a psychomotor regression and onset of seizures in several individuals with TRAPPC11 variants, who showed pseudometabolic crises triggered by infections. Our functional studies expanded the role of TRAPPC11 deficiency in mitochondrial function, as a decreased mitochondrial ATP production capacity and alterations in the mitochondrial network architecture were detected. Conclusion We provide a comprehensive phenotypic characterisation of the pathogenic variant TRAPPC11 c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R1

Home Parenteral Nutrition in Spain, 2015. Home and Ambulatory Artificial Nutrition (NADYA) Group report

Aim: To communicate the results of the Spanish Home Parenteral Nutrition (HEN) registry of the NADYA-SENPE group for the year 2015.Material and methods: Data was recorded online by NADYA group collaborators that were responsible of the HPN follow-up from 1st January to 31st December 2015.Results: Two hundred and thirty-six patients with 243 episodes of NPD were recorded from 40 hospitals. This represents a rate of 5.08 patients/million habitants for 2015. The most frequent pathology in adults was other (26.3%) followed by palliative oncological (21.6%). The most common complication was catheter-related sepsis which presented a rate of 0.53 infections/1,000 days of HPN. Sixty-four episodes were finished; the main cause was death (43.7%) and resuming to oral via (32.8%).Conclusions: we find increasing centers and professional partners, responding to the progressively more patients with parenteral nutrition support at home. The main indications for the establishment of NPD and causes termination of treatment remain stable

Accuracy of the CUETO, EORTC 2016 and EAU 2021 scoring models and risk stratification tables to predict outcomes in high-grade non-muscle-invasive urothelial bladder cancer

Purpose: Non-muscle-invasive bladder cancers (NMIBC) constitute 3-quarters of all primary diagnosed bladder tumors. For risk -adapted management of patients with NMIBC, different risk group systems and predictive models have been developed. This study aimed to externally validate EORTC2016, CUETO and novel EAU2021 risk scoring models in a multi-institutional retrospective cohort of patients with high-grade NMIBC who were treated with an adequate BCG immunotherapy.Methods: The Kaplan-Meier estimates for recurrence-free survival and progression-free survival were performed, predictive abilities were assessed using the concordance index (C-index) and area under the curve (AUC).Results: A total of 1690 patients were included and the median follow-up was 51 months. For the overall cohort, the estimates recur-rence-free survival and progression-free survival rates at 5-years were 57.1% and 82.3%, respectively. The CUETO scoring model had poor discrimination for disease recurrence (C-index/AUC for G2 and G3 grade tumors: 0.570/0.493 and 0.559/0.492) and both CUETO (C-index/AUC for G2 and G3 grade tumors: 0.634/0.521 and 0.622/0.525) EAU2021 (c-index/AUC: 0.644/0.522) had poor discrimination for disease progression.Conclusion: Both the CUETO and EAU2021 scoring systems were able to successfully stratify risks in our population, but presented poor discriminative value in predicting clinical events. Due to the lack of data, model validation was not possible for EORTC2016. The CUETO and EAU2021 systems overestimated the risk, especially in highest-risk patients. The risk of progression according to EORTC2016 was slightly lower when compared with our population analysis. (c) 2022 Published by Elsevier Inc