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1.
Arch. latinoam. nutr ; 73(4): 276-286, dic. 2023. tab, graf
Article in Spanish | LILACS, LIVECS | ID: biblio-1537477

ABSTRACT

Introducción. La investigación sobre la pandemia de COVID-19, se ha estudiado en tiempo real, ha sido y sigue siendo reveladora. Objetivo. Analizar la morbilidad y la mortalidad por COVID-19, asociadas a factores de riesgo metabólicos en población no indígena e indígena de México. Materiales y métodos. Utilizamos la Base Nacional de Datos COVID-19, durante los años críticos 2020-2021- 2022. Se trabajó con 5.380.247 casos que representaron la población total de positivos al SARS-CoV-2. Se analizaron las discrepancias entre las prevalencias de población no indígena, población indígena, defunción y no defunción. Se definió población indígena, con la clasificación oficial de auto-identificación. Se aplicó el modelo de regresión logística para determinar el riesgo de morir para cada variable: enfermedades cardiovasculares, hipertensión, diabetes, obesidad, sexo, edad y condición indígena. El análisis de multicolinealidad se analizó a través de la prueba de asociación Phi para variables dicotómicas y a través del ajuste de Nagelkerke. Resultados. En los positivos totales 99,2% fue población no indígena y 0,8% indígenas, mientras su porcentaje de letalidad fue de 5,8% y 11,1% respectivamente. En ambos grupos, murieron más hombres (61,5%) que mujeres (38,5%) y las edades de mayor defunción fueron 60 a 79 años. La mortalidad por enfermedades cardiovasculares fue la de mayor incidencia, 26,6% en población general y 32,3% en indígena; por diabetes 22,1% y 27,9%; hipertensión 20,0% y 26,7%y la obesidad 11, 3% y 17,4% respectivamente. Los análisis de regresión logística se ajustaron por sexo, edad y condición indígena. El condicionante de mayor riesgo de muerte, fueron las comorbilidades metabólicas y el de menor riesgo, la condición indígena. Conclusiones. El impacto de la pandemia por COVID-19 fue más grave cuando hubo padecimientos metabólicos tanto en la población no indígena como en la indígena(AU)


Introduction. Research on the COVID-19 pandemic, studied in real time, has been and continues to be revealing. Objective. To analyze morbidity and mortality from COVID-19, associated with metabolic risk factors in non-indigenous and indigenous populations of Mexico. Materials and methods. We use the National COVID-19 Database, during the critical years 2020-2021-2022. We worked with 5,380,247 cases that represented the total population of SARS-CoV-2 positives. The discrepancies between the prevalence of non-indigenous population, indigenous population, death and non-death were analyzed. The indigenous population was defined, with the official self-identification classification. The logistic regression model was applied to determine the risk of dying for each variable: cardiovascular diseases, hypertension, diabetes, obesity, sex, age and indigenous status. The multicollinearity analysis was analyzed through the Phi association test for dichotomous variables and through the Nagelkerke adjustment. Results. Of the total positives, 99.2% were non-indigenous people and 0.8% were indigenous, while their fatality percentage was 5.8% and 11.1% respectively. In both groups, more men (61.5%) than women (38.5%) died and the ages of greatest death were 60 to 79 years. Mortality from cardiovascular diseases was the one with the highest incidence, 26.6% in the general population and 32.3% in the indigenous population; due to diabetes 22.1% and 27.9%; hypertension 20.0% and 26.7% and obesity 11.3% and 17.4% respectively. Logistic regression analyzes were adjusted for sex, age, and indigenous status. The condition with the highest risk of death was metabolic comorbidities and the lowest risk was indigenous status. Conclusions. The impact of the COVID-19 pandemic was more serious when there were metabolic disorders in both the non-indigenous and indigenous populations(AU)


Subject(s)
Humans , Male , Adult , Middle Aged , Indigenous Peoples , COVID-19/mortality , Metabolic Diseases , Cardiovascular Diseases , Diabetes Mellitus , Sociodemographic Factors , Hypertension , Obesity
2.
Cambios rev. méd ; 22(1): 852, 30 Junio 2023. ilus, tabs
Article in Spanish | LILACS | ID: biblio-1451425

ABSTRACT

INTRODUCTION. Obesity is recognized as a risk factor for developing severe new coronavirus disease. Bariatric surgery prior to infection could behave as a protective factor against serious infections and death. OBJECTIVE. To describe the impact of bariatric surgery on the severity and mortality of patients with obesity and new coronavirus disease; through a systematic review and meta-analysis of the specialized literature from 2020-2022. METHODOLOGY. Publications indexed in databases such as Pubmed, Tripdatabase, and Google scholar, on the impact of previous bariatric surgery on the evolution and prognosis of patients with new coronavirus disease were taken. The Newcastle-Ottawa scale was used to assess quality and risk of bias. RevMan 5.0 software was used for statistical analysis. RESULTS. Eight cohort studies were included, with a population of 137 620 adult subjects with obesity and new coronavirus disease; of these, 5638 (4.09%) had a history of bariatric surgery. In the meta-analysis, it was determined that, in subjects with obesity and new coronavirus disease, the history of bariatric surgery had a protective effect against the use of mechanical ventilation [OR: 0.68; 95% CI: 0.62-0.75] (p<0.001) and mortality [OR: 0.57; 95% CI: 0.50-0.65] (p<0.01). CONCLUSIONS. The history of bariatric surgery in subjects with obesity seems to have a protective effect against the severity defined by the use of mechanical ventilation in patients with obesity and mortality due to the new coronvirus disease; therefore, the resumption of bariatric surgical activity, at pre-pandemic levels, could represent an additional benefit for candidate subjects.


INTRODUCTION. Obesity is recognized as a risk factor for developing severe new coronavirus disease. Bariatric surgery prior to infection could behave as a protective factor against serious infections and death. OBJECTIVE. To describe the impact of bariatric surgery on the severity and mortality of patients with obesity and new coronavirus disease; through a systematic review and meta-analysis of the specialized literature from 2020-2022. METHODOLOGY. Publications indexed in databases such as Pubmed, Tripdatabase, and Google scholar, on the impact of previous bariatric surgery on the evolution and prognosis of patients with new coronavirus disease were taken. The Newcastle-Ottawa scale was used to assess quality and risk of bias. RevMan 5.0 software was used for statistical analysis. RESULTS. Eight cohort studies were included, with a population of 137 620 adult subjects with obesity and new coronavirus disease; of these, 5638 (4.09%) had a history of bariatric surgery. In the meta-analysis, it was determined that, in subjects with obesity and new coronavirus disease, the history of bariatric surgery had a protective effect against the use of mechanical ventilation [OR: 0.68; 95% CI: 0.62-0.75] (p<0.001) and mortality [OR: 0.57; 95% CI: 0.50-0.65] (p<0.01). CONCLUSIONS. The history of bariatric surgery in subjects with obesity seems to have a protective effect against the severity defined by the use of mechanical ventilation in patients with obesity and mortality due to the new coronvirus disease; therefore, the resumption of bariatric surgical activity, at pre-pandemic levels, could represent an additional benefit for candidate subjects.


Subject(s)
Mortality , Bariatric Surgery , Patient Acuity , Protective Factors , COVID-19 , Obesity/complications , Respiration, Artificial , Respiratory System , Obesity, Morbid , Cardiovascular System , Body Mass Index , Ecuador , Hypertension , Metabolic Diseases
3.
Chinese Journal of Biotechnology ; (12): 1290-1303, 2023.
Article in Chinese | WPRIM | ID: wpr-981138

ABSTRACT

Live biotherapeutic products (LBPs) refer to the living bacteria derived from human body intestinal gut or in nature that can be used to treat the human disease. However, the naturally screened living bacteria have some disadvantages, such as deficient therapeutic effect and great divergence, which fall short of the personalized diagnosis and treatment needs. In recent years, with the development of synthetic biology, researchers have designed and constructed several engineered strains that can respond to external complex environmental signals, which speeded up the process of development and application of LBPs. Recombinant LBPs modified by gene editing can have therapeutic effect on specific diseases. Inherited metabolic disease is a type of disease that causes a series of clinical symptoms due to the genetic defect of some enzymes in the body, which may cause abnormal metabolism the corresponding metabolites. Therefore, the use of synthetic biology to design LBPs targeting specific defective enzymes will be promising for the treatment of inherited metabolic defects in the future. This review summarizes the clinic applications of LBPs and its potential for the treatment of inherited metabolic defects.


Subject(s)
Humans , Bacteria/genetics , Gene Editing , Metabolic Diseases/therapy
4.
Acta Physiologica Sinica ; (6): 403-412, 2023.
Article in Chinese | WPRIM | ID: wpr-981016

ABSTRACT

Early life nutritional environment is not only associated with the growth and development of children, but also affects the health of adults. Numerous epidemiological and animal studies suggest that early nutritional programming is an important physiological and pathological mechanism. DNA methylation is one of the important mechanisms of nutritional programming, which is catalyzed by DNA methyltransferase, a specific base of DNA covalently binds to a methyl group, to regulate gene expression. In this review, we summarize the role of DNA methylation in the "abnormal developmental planning" of key metabolic organs caused by excessive nutrition in early life, resulting in long-term obesity and metabolic disorders in the offspring, and explore the clinical significance of regulating DNA methylation levels through dietary interventions to prevent or reverse the occurrence of metabolic disorders in the early stage in a "deprogramming" manner.


Subject(s)
Humans , Animals , Female , DNA Methylation , Epigenesis, Genetic , Clinical Relevance , Maternal Nutritional Physiological Phenomena , Metabolic Diseases
5.
Chinese Journal of Epidemiology ; (12): 544-551, 2023.
Article in Chinese | WPRIM | ID: wpr-985525

ABSTRACT

Objective: To describe the distribution characteristics of hyperlipidemia in adult twins in the Chinese National Twin Registry (CNTR) and explore the effect of genetic and environmental factors on hyperlipidemia. Methods: Twins recruited from the CNTR in 11 project areas across China were included in the study. A total of 69 130 (34 565 pairs) of adult twins with complete information on hyperlipidemia were selected for analysis. The random effect model was used to characterize the population and regional distribution of hyperlipidemia among twins. The concordance rates of hyperlipidemia were calculated in monozygotic twins (MZ) and dizygotic twins (DZ), respectively, to estimate the heritability. Results: The age of all participants was (34.2±12.4) years. This study's prevalence of hyperlipidemia was 1.3% (895/69 130). Twin pairs who were men, older, living in urban areas, married,had junior college degree or above, overweight, obese, insufficient physical activity, current smokers, ex-smokers, current drinkers, and ex-drinkers had a higher prevalence of hyperlipidemia (P<0.05). In within-pair analysis, the concordance rate of hyperlipidemia was 29.1% (118/405) in MZ and 18.1% (57/315) in DZ, and the difference was statistically significant (P<0.05). Stratified by gender, age, and region, the concordance rate of hyperlipidemia in MZ was still higher than that in DZ. Further, in within-same-sex twin pair analyses, the heritability of hyperlipidemia was 13.04% (95%CI: 2.61%-23.47%) in the northern group and 18.59% (95%CI: 4.43%-32.74%) in the female group, respectively. Conclusions: Adult twins were included in this study and were found to have a lower prevalence of hyperlipidemia than in the general population study, with population and regional differences. Genetic factors influence hyperlipidemia, but the genetic effect may vary with gender and area.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , China/epidemiology , Diseases in Twins/genetics , Hyperlipidemias/genetics , Metabolic Diseases , Twins, Dizygotic , Twins, Monozygotic/genetics
6.
Chinese Journal of Hepatology ; (12): 105-108, 2023.
Article in Chinese | WPRIM | ID: wpr-970960

ABSTRACT

Autophagy is one of several hepatic metabolic processes in which starved cells are supplied with glucose, free fatty acids, and amino acids to produce energy and synthesize new macromolecules. Moreover, it regulates the quantity and quality of mitochondria and other organelles. As the liver is a vital metabolic organ, specific forms of autophagy are necessary for maintaining liver homeostasis. Protein, fat, and sugar are the three primary nutrients that can be altered by different metabolic liver diseases. Drugs that have an effect on autophagy can either promote or inhibit autophagy, and as a result, it can either increase or inhibit the three major nutritional metabolisms that are affected by liver disease. Thus, this opens up a novel therapeutic option for liver disease.


Subject(s)
Humans , Liver/metabolism , Liver Diseases , Autophagy , Metabolic Diseases , Mitochondria
7.
Rev. méd. Chile ; 150(12): 1596-1604, dic. 2022. ilus, tab
Article in Spanish | LILACS | ID: biblio-1515407

ABSTRACT

BACKGROUND: Physical activity (PA) practice reduces the adverse effects of COVID-19. PA counseling promotes healthy lifestyles and prevents cardiometabolic diseases. AIM: To assess the trend in cases of PA counseling and the cardiometabolic disease between 2012 and 2019 (before COVID-19) in a southern Chilean region. MATERIAL AND METHODS: Records of Maule Region Health Service for 731.163 men, and 829.097 women aged < 10 to ≥ 65 years were analyzed. The average annual percentage change (AAPC) during the study period and the annual percentage change (APC) during intermediate periods, were calculated. RESULTS: There was a significant decrease in PA counseling in women in the study period (AAPC: −13.6%). In the 2012-2017 period a significant decrease in counseling for total, men and women were observed (APC: −18.1, −16.5 and −19.1%, respectively). Obesity increased significantly in total, men and women in the 2012-2019 period (AAPC: 10.1, 8.5 and 10.7%, respectively). The same trend was observed for hypertension (AAPC: 8.1, 8.5 and 7.6% respectively) and elevated blood glucose (AAPC: 10, 11.5 and 9.6%, respectively). CONCLUSIONS: In the study period PA counseling decreased along with an increase in obesity, hypertension and high blood glucose. Increasing PA counseling is a mainstay in the prevention of cardiometabolic diseases and probably to prevent contagion and complement the treatment of COVID-19.


Subject(s)
Humans , Male , Female , Cardiovascular Diseases/prevention & control , Cardiovascular Diseases/epidemiology , COVID-19 , Metabolic Diseases/prevention & control , Metabolic Diseases/epidemiology , Blood Glucose , Exercise , Chile/epidemiology , Retrospective Studies , Counseling/statistics & numerical data , Pandemics , Hypertension , Obesity/prevention & control , Obesity/epidemiology
8.
Rev. Méd. Inst. Mex. Seguro Soc ; 60(2): 211-223, abr. 2022. ilus, tab
Article in Spanish | LILACS | ID: biblio-1367402

ABSTRACT

El retículo endoplásmico es un organelo abundante, dinámico y sensor de energía. Sus abundantes membranas, rugosa y lisa, se encuentran distribuidas en diferentes proporciones dependiendo del linaje y requerimiento celular. Su función es llevar a cabo la síntesis de proteínas y lípidos, y es el almacén principal de Ca2+ intracelular. La sobrecarga calórica y la glucolipotoxicidad generada por dietas hipercalóricas provoca la alteración del retículo endoplásmico, activando la respuesta a proteínas mal plegadas (UPR, Unfolded Protein Response, por sus siglas en inglés) como reacción al estrés celular relacionado con el retículo endoplásmico y cuyo objetivo es restablecer la homeostasis del organelo al disminuir el estrés oxidante, la síntesis de proteínas y la fuga de Ca2+. Sin embargo, durante un estrés crónico, la UPR induce formación de especies reactivas de oxígeno, inflamación y apoptosis, exacerbando el estado del retículo endoplásmico y propagando un efecto nocivo para los demás organelos. Es por ello que el estrés del retículo endoplásmico se ha considerado un inductor del inicio y desarrollo de enfermedades metabólicas, incluido el agravamiento de COVID-19. Hasta el momento, existen pocas estrategias para reestablecer la homeostasis del retículo endoplásmico, las cuales son dirigidas a los sensores que desencadenan la UPR. Por tanto, se justifica con urgencia la identificación de nuevos mecanismos y terapias novedosas relacionadas con mitigar el impacto del estrés del retículo endoplásmico y las complicaciones asociadas.


The endoplasmic reticulum is an abundant, dynamic and energy-sensing organelle. Its abundant membranes, rough and smooth, are distributed in different proportions depending on the cell lineage and requirement. Its function is to carry out protein and lipid synthesis, and it is the main intracellular Ca2+ store. Caloric overload and glycolipotoxicity generated by hypercaloric diets cause alteration of the endoplasmic reticulum, activating the Unfolded Protein Response (UPR) as a reaction to cellular stress related to the endoplasmic reticulum and whose objective is to restore the homeostasis of the organelle by decreasing oxidative stress, protein synthesis and Ca2+ leakage. However, during chronic stress, the UPR induces reactive oxygen species formation, inflammation and apoptosis, exacerbating the state of the endoplasmic reticulum and propagating a deleterious effect on the other organelles. This is why endoplasmic reticulum stress has been considered an inducer of the onset and development of metabolic diseases, including the aggravation of COVID-19. So far, few strategies exist to reestablish endoplasmic reticulum homeostasis, which are targeted to sensors that trigger UPR. Therefore, the identif ication of new mechanisms and novel therapies related to mitigating the impact of endoplasmic reticulum stress and associated complications is urgently warranted.


Subject(s)
Humans , Dietary Carbohydrates/adverse effects , Dietary Fats/adverse effects , Endoplasmic Reticulum/metabolism , Endoplasmic Reticulum Stress/physiology , COVID-19/complications , Metabolic Diseases/etiology , COVID-19/therapy , Homeostasis
10.
Article in Portuguese | LILACS, CONASS, SES-GO, ColecionaSUS | ID: biblio-1371736

ABSTRACT

Investigar as complicações metabólicas relacionadas à administração da terapia nutricional parenteral (TNP) e sua relação com o desfecho clínico de pacientes hospitalizados. Métodos: Estudo longitudinal retrospectivo realizado com pacientes internados em hospital público referência no atendimento de urgências e emergências da cidade de Goiânia no período de setembro de 2020 a fevereiro de 2021. A coleta de dados foi realizada por meio de consulta aos prontuários eletrônicos. As informações foram coletadas após o primeiro dia de uso da NP até o desfecho clínico -alta, óbito ou descontinuidade da NP. Resultados: A amostra foi constituída por 28 pacientes em uso de nutrição parenteral no hospital durante a etapa de coleta dedados. Desses pacientes a maioria era do sexo masculino, com média de idade de 46,78 anos. As indicações mais frequentes para o uso da terapia nutricional parenteral foram: repouso,abdome agudo e pós-operatório. As complicações mais prevalentes foram a hipocalemia, hipomagnesemia, uremia e a hiponatremia e o desfecho clínico mais frequente foi o óbito. Encontrou-se relação entre desfecho clínico e presença de hipernatremia (p=0,010), ocorrendo a alta hospitalar exclusivamente naqueles pacientes que não apresentaram hipernatremia. E ainda houve relação marginal (p=0,053) entre desfecho clínico e local da internação, sendo que foi mais frequente o óbito naqueles admitidos na unidade de terapia intensiva. Conclusão: Não houve associação entre a TNP e as complicações metabólicas. Todavia, observou-se relação entre hipernatremia e mortalidade, sendo esta mais prevalente em pacientes internados nas unidades de terapia intensiva (UTIs). Nessa amostra, a complicação metabólica mais observada foi a hipocalemia


To investigate the metabolic complication related to administration of the Parenteral Nutrition Therapy (PNT) and their relation to the clinical outcome of hospitalized patients. Methods: retrospective longitudinal study carried with interned patients at a public hospital of standart in the urgency and emergency care from the Goiânia city during the period from september2020 to february 2021. The data capture was realized through consultation to the electronic record. The information was collected after the first day use of NP to clinical outcome -discharge, death or discontinuation of NP. Results: The sample was composed by 28 patients in use of parenteral nutrition at hospital during the data capture. The majority of these patients were male, with mean age of 46-78 anos. The indications more frequent to the use of parenteral nutrition therapy were: rest, acute abdomen and pos-operative. The complications more prevalent were hypokalemia, hypomagnesemia, uremia and hyponatremia. And the clinical outcome more frequent was death. A relationship between clinical outcome and hypernatremia presence (p=0,010) was found, occurring the hospitalar discharge exclusively in those patients which did not submit to hypernatremia. And there was still a marginal relationship (p=0,053) between clinical outcome and hospitalization, which was more frequent the death in those admitted in intensive care units. Conclusion: There was no association between the PNT and the metabolic complications. However, there was an observed relationship between hypernatremia and mortality, while more prevalent in patients staying in the intensive care unit (ICU). In this sample, the metabolic complication most observed was hypokalemia


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Parenteral Nutrition/adverse effects , Hospitalization , Metabolic Diseases/etiology , Prevalence , Retrospective Studies , Longitudinal Studies , Metabolic Diseases/mortality
11.
Chinese journal of integrative medicine ; (12): 130-137, 2022.
Article in English | WPRIM | ID: wpr-922572

ABSTRACT

OBJECTIVE@#To explore the mechanisms of Dangua Recipe (DGR) in improving glycolipid metabolism based on transcriptomics.@*METHODS@#Sprague-Dawley rats with normal glucose level were divided into 3 groups according to a random number table, including a conventional diet group (Group A), a DGR group (Group B, high-calorie diet + 20.5 g DGR), and a high-calorie fodder model group (Group C). After 12 weeks of intervention, the liver tissue of rats was taken. Gene sequence and transcriptional analysis were performed to identify the key genes related to glycolipid metabolism reflecting DGR efficacy, and then gene or protein validation of liver tissue were performed. Nicotinamide phosphoribosyl transferase (Nampt) and phosphoenolpyruvate carboxykinase (PEPCK) proteins in liver tissues were detected by enzyme linked immunosorbent assay, fatty acid synthase (FASN) protein was detected by Western blot, and fatty acid binding protein 5 (FABP5)-mRNA was detected by quantitative real-time polymerase chain reaction. Furthermore, the functional verification was performed on the diabetic model rats by Nampt blocker (GEN-617) injected in vivo. Hemoglobin A@*RESULTS@#Totally, 257 differential-dominant genes of Group A vs. Group C and 392 differential-dominant genes of Group B vs. Group C were found. Moreover, 11 Gene Ontology molecular function terms and 7 Kyoto Encyclopedia of Genes and Genomes enrichment pathways owned by both Group A vs. Group C and Group C vs. Group B were confirmed. The liver tissue target validation showed that Nampt, FASN, PEPCK protein and FABP5-mRNA had the same changes consistent with transcriptome. The in vivo functional tests showed that GEN-617 increased body weight, HbA@*CONCLUSION@#Nampt activation was one of the mechanisms about DGR regulating glycolipid metabolism.


Subject(s)
Animals , Rats , Diabetes Mellitus, Experimental , Drugs, Chinese Herbal , Glycolipids , Liver , Metabolic Diseases , Rats, Sprague-Dawley , Transcriptome/genetics
12.
Chinese Journal of Contemporary Pediatrics ; (12): 326-331, 2022.
Article in English | WPRIM | ID: wpr-928608

ABSTRACT

With the improvement in the research level and the diagnosis and treatment technology of inherited metabolic diseases (IMD), the research on pediatric IMD in China has made great progress, but there is still some distance from the international level. Due to the vast territory of China and the uneven distribution of medical resources, the regional characteristics of IMD remain unclear in China, and there are many problems and difficulties in early diagnosis and treatment. Therefore, it is necessary to improve the understanding of pediatric IMD among pediatricians, so as to improve the diagnosis and treatment level, achieve an early identification, diagnosis, and treatment of pediatric IMD, and effectively reduce the fatality and disability rates of children with IMD. This article reviews the research progress of IMD in children in China, and analyzes the features of representative IMDs. Citation:Chinese Journal of Contemporary Pediatrics, 2022, 24(3): 326-331.


Subject(s)
Child , Humans , China , Metabolic Diseases/therapy
13.
Chinese Journal of Medical Genetics ; (6): 269-275, 2022.
Article in Chinese | WPRIM | ID: wpr-928400

ABSTRACT

OBJECTIVE@#To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age.@*METHODS@#A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed.@*RESULTS@#One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria.@*CONCLUSION@#This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.


Subject(s)
Female , Humans , Infant, Newborn , Asian People/genetics , China , Exome , Metabolic Diseases/genetics , Mitochondrial Membrane Transport Proteins/genetics , Oxidoreductases/genetics , Exome Sequencing
14.
Biomedical and Environmental Sciences ; (12): 13-21, 2022.
Article in English | WPRIM | ID: wpr-927628

ABSTRACT

OBJECTIVE@#This study aims to investigate the association of metabolic phenotypes that are jointly determined by body mass index (BMI) or fat mass percentage and metabolic health status with the ten-year risk of cardiovascular disease (CVD) among Chinese adults.@*METHODS@#Data were obtained from a cross-sectional study. BMI and body fat mass percentage (FMP) combined with the metabolic status were used to define metabolic phenotypes. Multiple linear regression and logistic regression were used to examine the effects of metabolic phenotypes on CVD risk.@*RESULTS@#A total of 13,239 adults aged 34-75 years were included in this study. Compared with the metabolically healthy non-obese (MHNO) phenotype, the metabolically unhealthy non-obese (MUNO) and metabolically unhealthy obese (MUO) phenotypes defined by BMI showed a higher CVD risk [odds ratio, OR (95% confidence interval, CI): 2.34 (1.89-2.89), 3.45 (2.50-4.75), respectively], after adjusting for the covariates. The MUNO and MUO phenotypes defined by FMP showed a higher CVD risk [ OR (95% CI): 2.31 (1.85-2.88), 2.63 (1.98-3.48), respectively] than the MHNO phenotype. The metabolically healthy obese phenotype, regardless of being defined by BMI or FMP, showed no CVD risk compared with the MHNO phenotype.@*CONCLUSION@#General obesity without central obesity does not increase CVD risk in metabolically healthy individuals. FMP might be a more meaningful factor for the evaluation of the association of obesity with CVD risk. Obesity and metabolic status have a synergistic effect on CVD risk.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Adipose Tissue/anatomy & histology , Body Mass Index , Cardiovascular Diseases/etiology , China/epidemiology , Cross-Sectional Studies , Metabolic Diseases/etiology , Obesity/complications , Phenotype , Regression Analysis , Risk Factors
15.
Acta Physiologica Sinica ; (6): 309-319, 2022.
Article in Chinese | WPRIM | ID: wpr-927607

ABSTRACT

Lipophagy is a kind of selective autophagy, which can selectively identify and degrade lipid droplets and plays an important role in regulating cellular lipid metabolism and maintaining intracellular lipid homeostasis. Exercise can induce lipophagy and it is also an effective means of reducing body fat. In this review, we summarized the relationship between exercise and lipophagy in the liver, pancreas, adipose tissue, and the possible molecular mechanisms to provide a new clue for the prevention and treatment of fatty liver, obesity and other related metabolic diseases by exercise.


Subject(s)
Humans , Autophagy/physiology , Lipid Droplets/metabolism , Lipid Metabolism/physiology , Liver , Metabolic Diseases/metabolism
16.
Chinese Journal of Pathology ; (12): 326-331, 2022.
Article in Chinese | WPRIM | ID: wpr-935534

ABSTRACT

Objective: To investigate the clinicopathological and molecular characteristics of hepatic fibrinogen storage disease (FSD) in children. Methods: The clinical, histopathologic, immunophenotypic, ultrastructural and gene sequencing data of 4 FSD cases were collected from September 2019 to January 2021 in the Children's Hospital of Fudan University, Shanghai, China. Retrospective analysis and literature review were conducted. Results: There were 4 cases of FSD, 3 males and 1 female, aged 3 years and 3 months to 6 years (median age, 3 years and 4 months). The clinical manifestations were abnormal liver function and abnormal blood coagulation function, for which 2 cases had family genetic history. Liver biopsies revealed that, besides liver steatosis, fibrosis and inflammation, there were single or multiple eosinophilic inclusion bodies of various sizes and surrounding transparent pale halo in hepatocytes. Immunohistochemistry showed that the inclusion bodies were positive for anti-fibrinogen. Under the electron microscope, they corresponded to the dilated cisternae of the rough endoplasmic reticulum, which were occupied by compactly packed tubular structures and arranged into a fingerprint-like pattern with curved bundles. Gene sequencing revealed that the 2 cases of FGG mutation were located in exon 8 c.1106A>G (p.His369Arg) and c.905T>C (p.Leu302Pro), and 1 case was located in exon 9 c.1201C>T (p.Arg401Trp). No pathogenic variant was detected in the other case. Conclusions: FSD is a rare genetic metabolic disease and clinically manifests as abnormal liver function with hypofibrinogenemia. In the background of liver steatosis, fibrosis and inflammation, there are eosinophilic inclusions with pale halo in the hepatocytic cytoplasm, which can be identified by anti-fibrinogen immunohistochemical staining. The fingerprint-like structures under electron microscope are helpful for the diagnosis, while FGG sequencing detects the pathogenic mutation of exon 8 or 9 that can clearly explain the phenotype. However, the diagnosis of FSD cannot be completely ruled out if the relevant mutations are not detected.


Subject(s)
Child , Child, Preschool , Female , Humans , Male , China , Fibrinogen/chemistry , Liver/pathology , Liver Diseases/pathology , Metabolic Diseases/pathology , Retrospective Studies
17.
Chinese Journal of Epidemiology ; (12): 598-602, 2022.
Article in Chinese | WPRIM | ID: wpr-935433

ABSTRACT

The expectancy and quality of life among people with HIV have improved remarkably with the widespread use of antiretroviral therapy (ART). In the meantime, the risks for HIV-related metabolic diseases have increased significantly, in particular diabetes mellitus. Multi-factors coeffect to increasing the risk of diabetes mellitus among HIV patients. Recently, growing of research has reported an association between HIV infections and ART and the development of diabetes mellitus. In this article, we summarize the recent studies investigating HIV infection and ART in diabetes mellitus to clarify their mechanism on the development of diabetes.


Subject(s)
Humans , Diabetes Mellitus/drug therapy , HIV Infections/drug therapy , Metabolic Diseases , Quality of Life
18.
Chinese Journal of Preventive Medicine ; (12): 159-164, 2022.
Article in Chinese | WPRIM | ID: wpr-935265

ABSTRACT

The soaring prevalence of obesity and its complications presents a significant health care burden, and there is currently a lack of effective and sustainable treatment methods. Time-restricted eating (TRE) is a specific intermittent fasting (IF) protocol involving consistent fasting and eating periods within a 24-hour cycle. Time-restricted eating can restore robust circadian rhythms and improve metabolic health, providing an emerging dietary strategy for the prevention and treatment of obesity and related metabolic diseases. Previous TRE trials laid the groundwork, and indicate a need for further clinical research including large-scale controlled trials to determine TRE efficacy and the mechanisms by which it may affect humans.


Subject(s)
Adult , Humans , Circadian Rhythm , Eating , Fasting , Metabolic Diseases/prevention & control , Obesity , Time
19.
Arch. latinoam. nutr ; 71(4): 281-289, dic. 2021. tab
Article in Spanish | LILACS, LIVECS | ID: biblio-1355216

ABSTRACT

Conocer la asociación específica de las enfermedades metabólicas en la mortalidad por COVID-19, ocurrida en México durante el año crítico de la pandemia de marzo 2020 a marzo 2021. Método. Se utilizó la base nacional de COVID-19 de la Dirección General de Epidemiología. Se analizaron los casos positivos que presentaron las enfermedades metabólicas: cardiovasculares, hipertensión, diabetes y obesidad. Se realizó un análisis descriptivo para conocer la distribución de los casos fallecidos y no fallecidos. Se empleó la prueba de ji cuadrada para la diferencia de las proporciones. Se utilizaron análisis de regresión logística para conocer la asociación entre las enfermedades metabólicas y la mortalidad por COVID-19 en personas positivas al virus SARS-CoV-2. Los datos fueron ajustados por edad y sexo. Resultados. Se observó la asociación de las enfermedades metabólicas en la mortalidad. La diabetes tuvo mayor porcentaje de letalidad 18,4%. Cuando se conjuntaron las enfermedades cardiovasculares y diabetes el porcentaje de letalidad subió a 31,5%; la conjunción de las enfermedades cardiovasculares, con hipertensión y diabetes fue la de mayor porcentaje de letalidad 38,7%. La obesidad fue la que tuvo menor incidencia. Conclusiones. Las enfermedades metabólicas en México son un problema de salud pública que afectó la mortalidad por covid-19. Es prioritario atender con políticas públicas preventivas y efectivas en favor de un modelo de consumo alimentario sano, acorde con las necesidades nutrimentales de la población(AU)


To know the specific association of metabolic disease on COVID-19 mortality, occurred during the critical year of the pandemic, from march 2020 to march 2021. Method: The Covid-19 national base of the General Directorate of Epidemiology was used. Positive cases of metabolic diseases were analyzed: cardiovascular disease, hypertension, diabetes and obesity. A descriptive analysis was carried out to find out the distribution of deceased and non-deceased cases. The chi-square test was used for the difference in proportions. Logistic regression analysis was used to understand the association between metabolic diseases and COVID 19 mortality in people who tested positive for the SARS-CoV-2 virus. The data were adjusted for age and gender. Results: The association of metabolic diseases on mortality was observed. Diabetes had a higher percentage of lethality 18,4%. When cardiovascular disease and diabetes were combined, the fatality rate rose to 31,5%; the combination of cardiovascular diseases, with hypertension and diabetes was the highest percentage of lethality 38,7%. Obesity had the least incidence. Conclusions: Metabolic diseases in México are a public health problem that affected COVID-19 mortality. It is a priority to deal with preventive and effective public policies in favor of a healthy food consumption model, in line with the nutritional needs of the population(AU)


Subject(s)
Humans , Male , Female , Cardiovascular Diseases/etiology , Diabetes Mellitus , Eating , COVID-19/mortality , Metabolic Diseases/complications , Metabolic Diseases/mortality , Obesity/physiopathology , Dietary Fats, Unsaturated , Epidemiology , Industrialized Foods , Pandemics , Hypertension
20.
Rev. bras. ciênc. mov ; 29(4): [1-28], out.-dez. 2021. tab, ilus
Article in Portuguese | LILACS | ID: biblio-1369674

ABSTRACT

O objetivo do estudo é verificar o agrupamento dos fatores de risco cardiometabólicos e as possíveis mudanças deste, após um programa de intervenção interdisciplinar realizado com adolescentes com sobrepeso/obesidade. Os sujeitos foram alocados em dois grupos: grupo intervenção e grupo controle. O grupo intervenção participou de um programa com a duração de seis meses, com sessões três vezes por semana, que incluiu sessões com exercícios físicos, orientações nutricionais e psicológicas. Foram realizadas avaliações antropométricas, pressão arterial, aptidão cardiorrespiratória e coleta sanguínea para avaliação da glicose e perfil lipídico, antes e após o período de intervenção. Análise de componentes principais foi realizada para verificar o agrupamento dos fatores de risco nos períodos pré e pós-intervenção. A análise fatorial agrupou os componentes em três fatores no momento pré-intervenção, no grupo intervenção, que representou 83,88% da variância total do modelo. Já, no grupo controle, no período pré e pós-intervenção, e na avaliação pós-intervenção do grupo intervenção, os componentes foram agrupados em dois fatores centrais, que explicam, respectivamente, 68,38%, 71,23%, 75,19% da variância total do modelo. O grupo intervenção apresentou mudanças no agrupamento das variáveis nos resultados pós-intervenção, em comparação com o pré-teste. Nenhum componente central, que inter-relacionasse todos os demais fatores, nas quatro análises realizadas, foi encontrado. Entretanto, as variáveis antropométricas aparecem como os componentes de maior carga fatorial, agrupadas no fator 1, em todas as análises realizadas, fator que explica a maior variância total em torno das variáveis iniciais. (AU)


The objective of the study is to verify the grouping of cardiometabolic risk factors and their possible changes after an interdisciplinary intervention program performed with overweight/obese adolescents. The subjects were allocated in two groups: the intervention group and the control group. The intervention group participated in a program lasting six months, with sessions three times a week, which included sessions with physical exercises, nutritional and psychological orientations. Anthropometric evaluations, blood pressure, cardiorespiratory fitness, and blood collection were performed for evaluation of glucose and lipid profile before and after the intervention period. Main component analysis was performed to verify the grouping of risk factors in the pre-and post-intervention periods. The factorial analysis grouped the components into three factors at the pre-intervention time, in the intervention group, which represented 83.88% of the total variance of the model. In the control group, in the pre-and post-intervention period, and in the post-intervention evaluation of the intervention group, the components were grouped into two central factors, which explain, respectively, 68.38%, 71.23%, 75, 19% of the total variance of the model. The intervention group presented changes in the grouping of the variables in the post-intervention results, compared to the pre-test. No central component, which interrelated all the other factors, was found in the four analyzes. However, the anthropometric variables appear as the components of higher factor load, grouped in factor 1, in all the analyzes performed, a factor that explains the largest total variance around the initial variables. (AU)


Subject(s)
Humans , Child , Adolescent , Adolescent , Overweight , Cardiometabolic Risk Factors , Obesity , Blood Pressure , Exercise , Anthropometry , Chronic Disease , Control Groups , Health Risk , Arterial Pressure , Cardiorespiratory Fitness , Heart Disease Risk Factors , Lipids , Metabolic Diseases
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