scholarly journals Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil

2021 ◽  
Vol 2 (2) ◽  
Author(s):  
Ada Maria Farias Sousa Borges ◽  
◽  
Romina Soledad Heredia Garcia ◽  
Keyword(s):  
Early Diagnosis ◽  
Neonatal Screening ◽  
Age Groups ◽  
Federal District ◽  
Neurological Manifestations ◽  
Inborn Errors ◽  
Mass Spectrometry Technology ◽  
The Impact ◽  
Restricted Amino Acids

Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency of the enzyme glutaryl-CoA dehydrogenase, with consequent accumulation of the aminoacids lysine, hydroxylsine and tryptophan. About 1 in every 100,000 individuals are affected by the disease. Neurological manifestations are variable and include acute and chronic encephalopathic crises, dystonia, motor and cognitive deficits, as well as neuroimaging findings such as brain hypoplasia, striatal, white matter and subdural effusions. Early diagnosis is crucial for specific therapy, which includes a diet with restricted amino acids and carnitine replacement. The present work describes the variability of neurological manifestations in four patients with glutaric acidemia type 1, diagnosed in different age groups, through mass spectrometry, technology of the expanded neonatal screening available in the Ministry of Health program in Federal District, Brazil. Complications of GA1 were more severe in cases with later diagnosis, which justifies the use of the enlarged neonatal screening as an important resource in the early diagnosis and treatment of inborn errors of metabolism.

Unemployment as an indicator of economic security in the employment sector: A regional dimension

2020 ◽  
Vol 16 (4) ◽  
pp. 715-729
Author(s):  
T.N. Savina
Keyword(s):  
Comparative Analysis ◽  
Age Groups ◽  
National Development ◽  
Federal District ◽  
Economic Security ◽  
Employment Policy ◽  
Multivariate Statistical ◽  
Band Theory ◽  
The Republic ◽  
The Impact

Subject. To achieve a high level of economic security is a key priority of national development. Employment reveals one of the most important aspects of social development of the individual that is associated with his or her needs satisfaction in the sphere of employment and is boon to economic security. Objectives. The purpose of the study is to show the impact of unemployment on economic security in employment. Methods. I apply such scientific methods as dialectical, historical and logical unity, structural and functional analysis, traditional techniques of economic analysis and synthesis. The methods of multivariate statistical and comparative analysis serve as a methodological basis of the study. To determine the indicator of unemployment, I use the band theory. Results. I underpin the growing role of employment in ensuring economic security. The paper presents a comprehensive assessment of the unemployment status and a comparative analysis of the indicator in the Republic of Mordovia, the Volga Federal District, and the Russian Federation as a whole. I identify trends in the average duration of unemployment, show the distribution of unemployed by level of education and age groups. Conclusions. The average annual unemployment rate in the Republic of Mordovia is lower than in Russia and the Volga Federal District. The findings may be useful for public authorities to substantiate their employment policy at both macro- and meso-levels, for designing programs and strategies for socio-economic development of regions and the social security doctrine, as well as in practical activities of employment services.

scholarly journals Quality of Life and Glycemic Control in Saudi Children with Type 1 Diabetes at Different Developmental Age Groups

2021 ◽  
Vol 14 ◽  
pp. 117955142199067
Author(s):  
Amir Babiker ◽  
Bothainah Al Aqeel ◽  
Sarah Marie ◽  
Hala Omer ◽  
Aban Bahabri ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Type 1 Diabetes ◽  
Glycemic Control ◽  
Age Groups ◽  
Proxy Reports ◽  
Developmental Age ◽  
The Impact ◽  
Domain Scores

Background: Children with type 1 diabetes (T1D) at different stages of development have age-specific needs, which can influence their perception of quality of life (QoL). In our study, we aimed to emphasize these age-specific needs and assess the perception of QoL in Saudi children with T1D, as well as their parents correlating QoL scores with children’s glycemic control. Methods: This is a cross-sectional study in which children with T1D and their parents from 2 tertiary institutes in Saudi Arabia have answered a standard diabetes-specific QoL questionnaire (PedsQL™ 3.0 diabetes module, translated in Arabic). We also reported glycated hemoglobin (HbA1c) results for these children within a month of completing the questionnaire. The QoL total aggregate and domain scores for self (children) and proxy (parents’) reports were compared and correlated with children’s HbA1c. Results: A sample was 288 self and proxy reports from 144 children with T1D of 3 age groups: 5 to 7 years (7%), 8 to 12 years (49%), and 13 to 18 years (44%), and their parents. QoL differed significantly between self and proxy reports in the total aggregate and domain scores ( P-values range from .02 to <.001). The impact on QoL was significantly higher in female patients ( P = .043). Insulin pump users had better HbA1c ( P = .007), and HbA1c level was worse in those who intended to fast at Ramadan ( P = .005). Conclusion: Children with T1D at different developmental age groups perceive QoL differently than their parents. Adjusting management as per age-specific challenges could potentially improve these children’s QoL and glycemic control.

scholarly journals Type 1 diabetes in 2017: global estimates of incident and prevalent cases in children and adults

Diabetologia ◽  
2021 ◽  
Author(s):  
Anders Green ◽  
Simone M. Hede ◽  
Christopher C. Patterson ◽  
Sarah H. Wild ◽  
Giuseppina Imperatore ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Age Groups ◽  
Incidence Rates ◽  
Data Availability ◽  
Sensitivity Analyses ◽  
Estimation Methods ◽  
Diabetes Incidence ◽  
Incident Cases ◽  
The Impact

Abstract Aims/hypothesis Data on type 1 diabetes incidence and prevalence are limited, particularly for adults. This study aims to estimate global numbers of incident and prevalent cases of type 1 diabetes in 2017 for all age groups, by country and areas defined by income and region. Methods Incidence rates of type 1 diabetes in children (available from 94 countries) from the IDF Atlas were used and extrapolated to countries without data. Age-specific incidence rates in adults (only known across full age range for fewer than ten countries) were obtained by applying scaling ratios for each adult age group relative to the incidence rate in children. Age-specific incidence rates were applied to population estimates to obtain incident case numbers. Duration of diabetes was estimated from available data and adjusted using differences in childhood mortality rate between countries from United Nations demographic data. Prevalent case numbers were derived by modelling the relationship between prevalence, incidence and disease duration. Sensitivity analyses were performed to quantify the impact of alternative assumptions and model inputs. Results Global numbers of incident and prevalent cases of type 1 diabetes were estimated to be 234,710 and 9,004,610, respectively, in 2017. High-income countries, with 17% of the global population, accounted for 49% of global incident cases and 52% of prevalent cases. Asia, which has the largest proportion of the world’s population (60%), had the largest number of incident (32%) and prevalent (31%) cases of type 1 diabetes. Globally, 6%, 35%, 43% and 16% of prevalent cases were in the age groups 0–14, 15–39, 40–64 and 65+ years, respectively. Based on sensitivity analyses, the estimates could deviate by ±15%. Conclusions/interpretation Globally, type 1 diabetes represents about 2% of the estimated total cases of diabetes, ranging from less than 1% in certain Pacific countries to more than 15% in Northern European populations in 2017. This study provides information for the development of healthcare and policy approaches to manage type 1 diabetes. The estimates need further validation due to limitations and assumptions related to data availability and estimation methods. Graphical abstract

scholarly journals Trend of specific HIV/AIDS mortality in the elderly in the Distrito Federal, Brazil

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
R C C S Sacco ◽  
K T Santos ◽  
P M F Escalda
Keyword(s):  
Early Diagnosis ◽  
Age Groups ◽  
Young Male ◽  
Secondary Data ◽  
Federal District ◽  
The Elderly ◽  
Preventive Actions ◽  
The Social ◽  
Distrito Federal ◽  
Hiv Aids

Abstract Background In the last decade, the number of individuals over 60 years of age with AIDS has increased in Brazil, with the need to know the trend of the mortality of the disease to subsidize educational and preventive actions for service users and health professionals. The objective was to describe the trend of mortality from HIV/AIDS in the elderly in the Federal District (DF), Brazil, from 2007 to 2016. Methods Descriptive study, ecological type of time series, from secondary data on mortality obtained from the Brazilian Ministry of Health. Linear regression was performed to analyze trends by sex and by age group, using the Statistical Package for the Social Sciences (SPSS). Results Deaths were predominant in men (74.1%) aged 60 to 69 years (70.4%). The sex ratio was 2.85. The married / stable union (43.0%) and white (52%) were the majority. There was a significant increase in males, while in females, it was slightly decreasing in the same period. In the age groups of 60-69 years and 70-79 years, there was a tendency to increase in mortality, decreasing for ≥ 80 years. Conclusions There was a predominance and an increasing tendency in young male elderly, demonstrating that prevention actions need to achieve greater reach in this population, with the breaking of barriers related to prejudice and the stigma of the disease. A better organization of the care network for the elderly is suggested, enabling approaches to suspected cases and providing early diagnosis, to ensure greater quality survival for the elderly. Key messages There was a tendency to increase mortality from HIV / AIDS in elderly men, aged 60-79 years. There is a need to improve educational activities and early diagnosis and timely treatment for this group.

Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia

2016 ◽  
Vol 29 (3) ◽  
Author(s):  
Ahmed M. Ahmed ◽  
Mohamed Al-Maghamsi ◽  
Abdullah M. Al-Harbi ◽  
Ihsan M. Eid ◽  
Hussam H. Baghdadi ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Age Groups ◽  
Childhood Diabetes ◽  
Older Children ◽  
Awareness Campaign ◽  
Reduced Frequency ◽  
Childhood Type 1 Diabetes ◽  
The Impact ◽  
Childhood Type

AbstractRaising the awareness of childhood diabetes symptoms can reduce the frequency of diabetic ketoacidosis (DKA) at onset of type 1 diabetes (T1D). However, data on the effectiveness of such interventions are limited. The aim of the study was to describe trends of DKA at onset of childhood T1D during 2005–2014 and assess the impact of a diabetes awareness campaign launched late 2010.Data of children <12 years presented with DKA at diagnosis were analyzed according to age, gender and year of diagnosis. The frequency and severity of DKA before and during the 4 years campaign were compared.During 2005–2014, 44.9% (243/541) of children diagnosed with T1D presented with DKA. Of these, 22.7% had pH <7.1. In both genders DKA was higher in children <6 years (47.8% vs. 40%; p<0.01) and more severe in <3 years old compared to older children (30% vs. 20%; p<0.01). Following the awareness campaign DKA rate dropped from 48% in 2010 to 39% in 2014 and 15.8% had severe DKA compared to 26.1% in 2005–2010 (p<0.01). This trend was observed in both genders and across age groups. In children <3 years the reduction in DKA frequency and severity was not statistically significant (p=0.15 and p=0.42, respectively).In NWSA, the frequency and severity of DKA at onset of childhood T1D were reduced following 4 years awareness campaign; but the rate is still high. Maintaining the campaign may result in further improvement following a longer period of observation.

scholarly journals COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Tanyel Zubarioglu ◽  
Saffa Ahmadzada ◽  
Cengiz Yalcinkaya ◽  
Ertugrul Kiykim ◽  
Cigdem Aktuglu-Zeybek
Keyword(s):  
Glutaric Aciduria Type ◽  
Periventricular White Matter ◽  
Inborn Errors ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Dehydrogenase Gene ◽  
Time In Literature ◽  
Metabolic Outcome ◽  
The Impact

Abstract Objectives The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1). Case presentation A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1. Conclusions With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.

Trends in Dietary Intake of Vitamins A, C, and E in German Children and Adolescents – Results of the DONALD Study

2003 ◽  
Vol 73 (5) ◽  
pp. 335-342 ◽  
Author(s):  
Alexy ◽  
Kersting ◽  
Sichert-Hellert
Keyword(s):  
Vitamin E ◽  
Nutrition Education ◽  
Time Trends ◽  
Nutrient Intake ◽  
Age Groups ◽  
Food Groups ◽  
Fortified Food ◽  
Vitamin Intake ◽  
Dietary Records ◽  
The Impact

Intake of vitamins A, C, and E was evaluated and age and time trends were assessed on the basis of 3-day weighed dietary records (n = 5121) of 2- to 18-year old boys (n = 417) and girls (n = 425) enrolled in the DONALD Study (Dortmund Nutritional and Anthropometric Longitudinally Designed Study) 1986–2001. Intake of vitamin A remains stable over time, intake of vitamin C increases linearly, and intake of vitamin E follows a nonlinear trend. Age trends of vitamins A and C (per MJ) were nonlinear with a minimum at the beginning adolescence, while intake of vitamin E (per MJ) increased linearly. Girls had higher nutrient densities but lower intakes expressed as percent of reference values. Fortified food in total had a higher impact on time trends of nutrient intake than other single food groups defined here. Our results point to the impact of the food industry on long-term nutrient intake, but also underline the necessity of nutrition education even in young age groups to improve vitamin intake.

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