OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01). RESULTS: WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots. CONCLUSION This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; ras GTPase-Activating Proteins/genetics* ; Phenotype ; Exome Sequencing ; Genetic Association Studies

INTRODUCTION

The social determinants of health refer to an individual's social, political, and economic situation and environment, which can have an impact on their health. On the other hand, disability-adjusted life years (DALYs) reflect the mortalities and morbidities incurred due to disease and injury.

This study aims to analyze the social determinants of health indicators and their association with communicable, non-communicable, and injury-related DALYs and deaths.

Data from World Health Organization, World Bank, and International Labor Organization were used and considered for the 17 Social Determinants of Health categories. Logistic regression was used to determine the relationship of social determinants of health indicators with communicable, non-communicable, and injury-related DALYs and deaths.

Results show that an increase in the population, monetary poverty, adult illiteracy, and fine particulate matter increase IPNN DALYs. This study also found correlations of socioeconomic factors to NCD deaths and DALYs attributable to the environment. NCD DALYs and deaths are found to increase with the number of poor living with 3.10 dollars a day, while median daily per capita income, and increase in persons above retiring age receiving pension decrease NCD DALYs attributable to the environment. Focusing on injury DALYs and deaths, an increase in the number of poor living at 3.10 dollars a day, non-agricultural informal employment, and total average concentration of f ine particulate matter increases injury DALYs while the latter is observed to decrease when there is an increase in the medial daily per capita income, agricultural employment outside the formal sector, and vulnerable persons covered by social assistance.

Socio-economic factors such as income, employment, education, and social welfare program affect morbidity, disability, and mortality.

Congenital musculoskeletal and limb deformities (CMLD) seriously affect the physical and mental health of patients, and pose great challenges to healthcare systems worldwide. We explored the specific situation and changes of incidence, prevalence, disability-adjusted life years rates, and mortality of CMLD in under-5 children from 1990 to 2021 in different groups, including different regions, periods, genders and socio-demographic indices (SDI), through corresponding analytical models. Overall, the global disease burden of CMLD in under-5 children has decreased from 1990 to 2021. The disease burden of CMLD in under-5 children varied significantly among different regions and countries, and there was a strong correlation between the corresponding burden of disease and the level of SDI. In addition, cross-country inequality analysis showed that while absolute inequalities in the disease burden of CMLD in under-5 children have improved, relative inequalities have worsened. It is essential to reduce the global health impact of CMLD by implementing targeted interventions to improve health care in underdeveloped areas.
Humans ; Global Burden of Disease/trends* ; Child, Preschool ; Global Health/statistics & numerical data* ; Infant ; Male ; Prevalence ; Limb Deformities, Congenital/mortality* ; Musculoskeletal Abnormalities/mortality* ; Female ; Disability-Adjusted Life Years ; Incidence ; Infant, Newborn ; Cost of Illness ; Socioeconomic Factors

OBJECTIVE: Asthma imposes a significant global health burden. This study examines changes in the asthma-related disease burden from 1990 to 2021 and projects future burdens for 2050 under different scenarios. METHODS: Using data from the Global Burden of Disease 2021 study, we analyzed asthma incidence, prevalence, mortality, and disability-adjusted life years (DALYs) from 1990 to 2021. We projected the disease burden for 2050 based on current trends and hypothetical scenarios in which all risk factors are controlled. Temporal trends in age-standardized incidence, prevalence, mortality, and DALY rates were explored using Annual Percent Change. RESULTS: In 2021, the age-standardized rates for asthma incidence, prevalence, mortality, and DALYs in China were 364.17 per 100,000 (95% uncertainty interval [ UI]: 283.22-494.10), 1,956.49 per 100,000 (95% UI: 1,566.68-2,491.87), 1.47 per 100,000 (95% UI: 1.15-1.79), and 103.76 per 100,000 (95% UI: 72.50-145.46), respectively. A higher disease burden was observed among Chinese men and individuals aged 70 years or older. Compared to the current trend, a combined scenario involving improvements in environmental factors, behavioral and metabolic health, child nutrition, and vaccination resulted in a greater reduction in the disease burden caused by asthma. CONCLUSION Addressing modifiable risk factors is essential for further reducing the asthma-related disease burden.
Humans ; Asthma/mortality* ; China/epidemiology* ; Male ; Female ; Adult ; Middle Aged ; Aged ; Child ; Adolescent ; Global Burden of Disease/trends* ; Child, Preschool ; Young Adult ; Infant ; Cost of Illness ; Disability-Adjusted Life Years ; Prevalence ; Incidence ; Infant, Newborn ; Aged, 80 and over ; Risk Factors

OBJECTIVE: This study aims to analyze the burden of lower respiratory infections in Chinese elderly people aged 70 and above. METHODS: This study utilized Global Burden of Disease (GBD) 1990-2050 prediction data to analyze changes in mortality rates and disability-adjusted life year (DALY) rates for lower respiratory infections in the elderly population (aged 70 and above) in China from 1990 to 2050. It also discusses future trends in the burden of lower respiratory infections (LRI) in China under different scenarios. RESULTS: According to GBD predictions, the burden of lower respiratory infections in the elderly aged 70 years and above in China is lower than the global average. The burden has been decreasing from 1990 to 2020, but is projected to increase from 2020 to 2050. Scenario-based predictions suggest that, under scenarios involving improvements in nutrition and vaccination, the burden of lower respiratory infections in the elderly in China is expected to be the lowest in 2050. CONCLUSION This study indicates that the burden of lower respiratory infections in elderly people aged 70 years and above in China remains a significant public health issue and may worsen. The government should consider strengthening the preventive measures and management strategies for respiratory infections in the elderly population.
Humans ; China/epidemiology* ; Aged ; Respiratory Tract Infections/mortality* ; Aged, 80 and over ; Male ; Female ; Forecasting ; Disability-Adjusted Life Years ; Global Burden of Disease ; Cost of Illness

OBJECTIVE: To analyze the prevalence and burden of headache disorders in China and its provinces from 1990 to 2021. METHODS: Using data from the Global Burden of Disease Study (GBD) 2021, the number of prevalent cases, prevalence rate, disability-adjusted life years (DALYs), and age-standardized DALY rates were analyzed by sex, age group, and province for headache disorders and their subtypes (migraine and tension-type headache [TTH]) between 1990 and 2021. Percentage changes during this period were also estimated. RESULTS: In 2021, approximately 426 million individuals in China were affected by headache disorders, with an age-standardized prevalence rate of 27,582.61/100,000. The age-standardized DALY rate for all headache disorders was 487.15/100,000. Between 1990 and 2021, the number of prevalent cases increased by 37.78%, while the prevalence of all headache disorders, migraine, and TTH increased by 6.92%, 7.57%, and 7.86%, respectively. The highest prevalence was observed in the 30-34 age group (39,520.60/100,000). Migraine accounted for a larger proportion of DALYs attributable to headache disorders, whereas TTH has a greater impact on its prevalence. In 2021, the highest age-standardized DALY rates for headache disorders were observed in Heilongjiang (617.85/100,000) and Shanghai (542.86/100,000). CONCLUSION The prevalence of headache disorders is increasing in China. Effective health education, improve diagnosis and treatment are essential, particularly for middle-aged working populations and women of childbearing age.
Humans ; China/epidemiology* ; Female ; Male ; Adult ; Middle Aged ; Prevalence ; Young Adult ; Adolescent ; Aged ; Child ; Headache Disorders/epidemiology* ; Disability-Adjusted Life Years ; Child, Preschool ; Cost of Illness ; Infant ; Aged, 80 and over

OBJECTIVE: The Asia-Pacific region has a high chronic obstructive pulmonary disease (COPD) burden, but studies on its trends are limited. Using the Global Burden of Disease (GBD) 2019 data, we analyzed COPD trends in 36 countries and territories from 1990 to 2019 and predicted future incidence trends through 2034. METHODS: COPD data by age and sex from the GBD 2019 database were analyzed for incidence, prevalence, mortality, and disability-adjusted life years (DALY) rates from 1990 to 2019. Joinpoint regression identified significant annual trends, and age-standardized incidence rates were predicted through 2034 using age-period-cohort models. RESULTS: The incidence, prevalence, mortality, and disease burden of COPD have been decreasing, and the incidence rates will continue to decrease or remain stable until 2034 in most selected countries and territories, except for a few Southeastern Asian countries. The Lao People's Democratic Republic and Vietnam are projected to experience an increase in COPD incidence from 165.3 per 100,000 in 2019 to 177 per 100,000 in 2034 and from 179.9 per 100,000 in 2019 to 192.5 per 100,000 in 2034, respectively. Older males had a higher incidence than any other sex or age group. The sex gap in incidence rates continues to widen, though it is smaller and less significant in the younger age group than in those in the older one. CONCLUSION COPD rates are expected to decline until 2034 but remain a health risk, especially in countries with rising rates. Urgent action on tobacco control, air pollution, and public education is needed.
Humans ; Pulmonary Disease, Chronic Obstructive/mortality* ; Male ; Female ; Middle Aged ; Aged ; Incidence ; Asia/epidemiology* ; Adult ; Prevalence ; Cost of Illness ; Aged, 80 and over ; Disability-Adjusted Life Years ; Young Adult ; Global Burden of Disease ; Adolescent

Objective To analyze the changing trends of the burden of non-alcoholic fatty liver disease(NAFLD)in China from 1990 to 2021 and provide a basis for formulating prevention and treatment strategies.Methods The standardized incidence rate,prevalence,mortality,and disability-adjusted life year(DALY)rate of NAFLD in China from 1990 to 2021 were extracted from the Global Burden of Disease Study 2021.The average annual percentage change of rate data was calculated by Joinpoint 4.2 and the age,period,and birth cohort effects of the prevalence and DALY rate were analyzed by the age-period-cohort model.Results Compared to 1990,the incidence rate and prevalence of NAFLD have been on the rise,while the mortality and DALY rate have been declining.The age effect curves of prevalence and DALY rate showed an upward trend followed by a downward trend for both males and females.With the period from 1992 to 1996 as the reference group,the period effect curve of prevalence showed a downward trend followed by an upward trend,being the lowest in the period from 2002 to 2006(RR=0.93).The period effect curve of DALY rate showed a downward trend from 1992 to 2011 and then tended to flatten out.With the period from 1972 to 1981 as the reference group,the birth cohort effect curve of prevalence showed a steady upward trend in the general population and both male and female populations.The birth cohort effect curve of DALY rate showed an overall upward trend followed by a downward trend,with the peak occurring in the birth cohort group between 1922 and 1931.The DALY rate of NAFLD caused by smoking and high fasting blood glucose has shown a downward trend since 2014,and fasting blood glucose gradually became the dominant factor as age increased.Conclusions From 1990 to 2021,NAFLD in China has shown a rising prevalence but a significantly declining DALY rate.This suggests that current prevention and control strategies are effective,and further efforts should be made to raise residents' health awareness in controlling the occurrence and development of NAFLD.
Humans ; Non-alcoholic Fatty Liver Disease/epidemiology* ; China/epidemiology* ; Prevalence ; Female ; Male ; Incidence ; Disability-Adjusted Life Years ; Middle Aged ; Adult

INTRODUCTION

The social determinants of health refer to an individual's social, political, and economic situation and environment, which can have an impact on their health. On the other hand, disability-adjusted life years (DALYs) reflect the mortalities and morbidities incurred due to disease and injury.

This study aims to analyze the social determinants of health indicators and their association with communicable, non-communicable, and injury-related DALYs and deaths.

Data from World Health Organization, World Bank, and International Labor Organization were used and considered for the 17 Social Determinants of Health categories. Logistic regression was used to determine the relationship of social determinants of health indicators with communicable, non-communicable, and injury-related DALYs and deaths.

Results show that an increase in the population, monetary poverty, adult illiteracy, and fine particulate matter increase IPNN DALYs. This study also found correlations of socioeconomic factors to NCD deaths and DALYs attributable to the environment. NCD DALYs and deaths are found to increase with the number of poor living with 3.10 dollars a day, while median daily per capita income, and increase in persons above retiring age receiving pension decrease NCD DALYs attributable to the environment. Focusing on injury DALYs and deaths, an increase in the number of poor living at 3.10 dollars a day, non-agricultural informal employment, and total average concentration of f ine particulate matter increases injury DALYs while the latter is observed to decrease when there is an increase in the medial daily per capita income, agricultural employment outside the formal sector, and vulnerable persons covered by social assistance.

Socio-economic factors such as income, employment, education, and social welfare program affect morbidity, disability, and mortality.

BACKGROUND: Spatiotemporal disparities exist in the disease burden of non-communicable diseases (NCDs) attributable to kidney dysfunction, which has been poorly assessed. The present study aimed to evaluate the spatiotemporal trends of the global burden of NCDs attributable to kidney dysfunction and to predict future trends. METHODS: Data on NCDs attributable to kidney dysfunction, quantified using deaths and disability-adjusted life-years (DALYs), were extracted from the Global Burden of Diseases Injuries, and Risk Factors (GBD) Study in 2019. Estimated annual percentage change (EAPC) of age-standardized rate (ASR) was calculated with linear regression to assess the changing trend. Pearson's correlation analysis was used to determine the association between ASR and sociodemographic index (SDI) for 21 GBD regions. A Bayesian age-period-cohort (BAPC) model was used to predict future trends up to 2040. RESULTS: Between 1990 and 2019, the absolute number of deaths and DALYs from NCDs attributable to kidney dysfunction increased globally. The death cases increased from 1,571,720 (95% uncertainty interval [UI]: 1,344,420-1,805,598) in 1990 to 3,161,552 (95% UI: 2,723,363-3,623,814) in 2019 for both sexes combined. Both the ASR of death and DALYs increased in Andean Latin America, the Caribbean, Central Latin America, Southeast Asia, Oceania, and Southern Sub-Saharan Africa. In contrast, the age-standardized metrics decreased in the high-income Asia Pacific region. The relationship between SDI and ASR of death and DALYs was negatively correlated. The BAPC model indicated that there would be approximately 5,806,780 death cases and 119,013,659 DALY cases in 2040 that could be attributed to kidney dysfunction. Age-standardized death of cardiovascular diseases (CVDs) and CKD attributable to kidney dysfunction were predicted to decrease and increase from 2020 to 2040, respectively. CONCLUSION NCDs attributable to kidney dysfunction remain a major public health concern worldwide. Efforts are required to attenuate the death and disability burden, particularly in low and low-to-middle SDI regions.
Humans ; Noncommunicable Diseases/epidemiology* ; Global Burden of Disease ; Disability-Adjusted Life Years ; Male ; Female ; Risk Factors ; Middle Aged ; Kidney Diseases/epidemiology* ; Bayes Theorem ; Adult ; Aged ; Global Health ; Quality-Adjusted Life Years