Disorders of Fructose Metabolism

2016 ◽  
Author(s):  
Robin H. Lachmann ◽  
Timothy M. Cox
Keyword(s):  
Autosomal Recessive ◽  
Normal Development ◽  
Adult Life ◽  
Failure To Thrive ◽  
Well Being ◽  
Water Soluble ◽  
Timely Manner ◽  
Hereditary Fructose Intolerance ◽  
Aldolase B ◽  
Normal Life Span

Hereditary fructose intolerance is an autosomal recessive disease which is manifest at weaning but formal diagnosis is often delayed until late childhood or adult life. Fructose, sucrose and sorbitol present in offending foods and drinks induce hypoglycaemia, hypophosphatemia, acidosis, hyperuricemia and hypermagnesemia. If unrecognized, the disease causes failure to thrive, a reno-tubular syndrome with nephrocalcinosis, jaundice, and ultimately liver injury. Parenteral administration of fructose or its congeners can be fatal. Molecular analysis of the aldolase B gene has revolutionized diagnosis. Treatment by a strict dietary exclusion (supplemented by water-soluble vitamins) is successful and, if instituted in a timely manner, is compatible with a normal life span. Early diagnosis and dietary modification are critical for well-being and normal development in affected children.

Renin Cells, the Kidney, and Hypertension

2021 ◽  
Vol 128 (7) ◽  
pp. 887-907
Author(s):  
Maria Luisa S. Sequeira-Lopez ◽  
R. Ariel Gomez
Keyword(s):  
Cell Fate ◽  
Normal Development ◽  
Adult Life ◽  
Tissue Perfusion ◽  
Well Being ◽  
Postnatal Life ◽  
Electrolyte Balance ◽  
Arterial Tree ◽  
Chronic Stimulation ◽  
Concentric Hypertrophy

Renin cells are essential for survival perfected throughout evolution to ensure normal development and defend the organism against a variety of homeostatic threats. During embryonic and early postnatal life, they are progenitors that participate in the morphogenesis of the renal arterial tree. In adult life, they are capable of regenerating injured glomeruli, control blood pressure, fluid-electrolyte balance, tissue perfusion, and in turn, the delivery of oxygen and nutrients to cells. Throughout life, renin cell descendants retain the plasticity or memory to regain the renin phenotype when homeostasis is threatened. To perform all of these functions and maintain well-being, renin cells must regulate their identity and fate. Here, we review the major mechanisms that control the differentiation and fate of renin cells, the chromatin events that control the memory of the renin phenotype, and the major pathways that determine their plasticity. We also examine how chronic stimulation of renin cells alters their fate leading to the development of a severe and concentric hypertrophy of the intrarenal arteries and arterioles. Lastly, we provide examples of additional changes in renin cell fate that contribute to equally severe kidney disorders.

scholarly journals An Integrated Approach to Deal with Mental Health Issues of Children and Adolescent during COVID-19 Pandemic

2020 ◽  
Author(s):  
Mousumi Sethy ◽  
Reshmi Mishra
Keyword(s):  
Mental Health ◽  
Children And Adolescents ◽  
Adult Life ◽  
Holistic Approach ◽  
Integrated Approach ◽  
Well Being ◽  
Childhood And Adolescence ◽  
Health Issues ◽  
Children And Adolescent ◽  
Mental Health Issues

The pandemic caused by COVID-19 has left few countries untouched. It is a far-reaching implication on humankind, with children and adolescents, being no exception. Although the prevalence and fatality are negligible among children, a possible impact on their psychological and mental health cannot be disregarded. The unprecedented change in the way of living is bound to be having some psychological consequences on children and adolescents. The experiences gathered in childhood and adolescence are known to contribute to shaping the physical, emotional, and social well-being in adult life. Children are highly susceptible to environmental stressors. The present situation has the potential of adversely affecting the physical and mental well-being of children. To save the children from the long term consequences of this pandemic, a holistic approach integrating biological, psychological, social and spiritual methods of enhancing mental health have become essential. A concerted effort of government, Non Government Organisations (NGOs), parents, teachers, schools, psychologists, counselors and physicians are required to deal with the mental health issues of children and adolescents. This paper discusses the possible role of these agencies in the holistic intervention of this crisis.

scholarly journals Psychological Well-Being, Personality and Physical Activity. One Life Style for the Adult Life [Bienestar psicológico, personalidad y actividad física. Un estilo de vida para la vida adulta]

2017 ◽  
Vol 14 (1) ◽  
pp. 65 ◽  
Author(s):  
Juan González-Hernández ◽  
Clara López-Mora ◽  
Alberto Portolés-Ariño ◽  
Antonio Jesús Muñoz-Villena ◽  
Y. Mendoza-Díaz
Keyword(s):  
Physical Activity ◽  
Life Style ◽  
Adult Life ◽  
Well Being ◽  
Psychological Well Being ◽  
Bienestar Psicologico

scholarly journals Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2397 ◽  
Author(s):  
Di Dato ◽  
Spadarella ◽  
Puoti ◽  
Caprio ◽  
Pagliardini ◽  
...  
Keyword(s):  
Liver Injury ◽  
Genetic Disorder ◽  
Liver Steatosis ◽  
Daily Intake ◽  
Young Patients ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intake ◽  
Fructose Intolerance ◽  
Carbohydrate Deficient Transferrin ◽  
Aldolase B

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients’ clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

scholarly journals A brief social-belonging intervention in college improves adult outcomes for black Americans

2020 ◽  
Vol 6 (18) ◽  
pp. eaay3689 ◽  
Author(s):  
Shannon T. Brady ◽  
Geoffrey L. Cohen ◽  
Shoshana N. Jarvis ◽  
Gregory M. Walton
Keyword(s):  
Community Involvement ◽  
Psychological Intervention ◽  
Adult Life ◽  
Black Americans ◽  
Well Being ◽  
First Year ◽  
Adult Outcomes ◽  
Social Belonging ◽  
Long Term Follow Up ◽  
The Life Course

Could mitigating persistent worries about belonging in the transition to college improve adult life for black Americans? To examine this question, we conducted a long-term follow-up of a randomized social-belonging intervention delivered in the first year of college. This 1-hour exercise represented social and academic adversity early in college as common and temporary. As previously reported in Science, the exercise improved black students’ grades and well-being in college. The present study assessed the adult outcomes of these same participants. Examining adult life at an average age of 27, black adults who had received the treatment (versus control) exercise 7 to 11 years earlier reported significantly greater career satisfaction and success, psychological well-being, and community involvement and leadership. Gains were statistically mediated by greater college mentorship. The results suggest that addressing persistent social-psychological concerns via psychological intervention can shape the life course, partly by changing people’s social realities.

scholarly journals Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content

2019 ◽  
Vol 104 (11) ◽  
pp. 5056-5064 ◽  
Author(s):  
Nynke Simons ◽  
François-Guillaume Debray ◽  
Nicolaas C Schaper ◽  
M Eline Kooi ◽  
Edith J M Feskens ◽  
...  
Keyword(s):  
Body Mass ◽  
Surrogate Marker ◽  
Oral Glucose ◽  
Resonance Spectroscopy ◽  
Hereditary Fructose Intolerance ◽  
Inborn Errors ◽  
Nonalcoholic Fatty Liver ◽  
Recent Experimental Study ◽  
Aldolase B ◽  
Experimental Findings

Abstract Context There is an ongoing debate about whether and how fructose is involved in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). A recent experimental study showed an increased intrahepatic triglyceride (IHTG) content in mice deficient for aldolase B (aldo B−/−), the enzyme that converts fructose-1-phosphate to triose phosphates. Objective To translate these experimental findings to the human situation. Design Case-control study. Setting Outpatient clinic for inborn errors of metabolism. Patients or Other Participants Patients with hereditary fructose intolerance, a rare inborn error of metabolism caused by a defect in aldolase B (n = 15), and healthy persons matched for age, sex, and body mass index (BMI) (n =15). Main Outcome Measure IHTG content, assessed by proton magnetic resonance spectroscopy. Results IHTG content was higher in aldo B−/− patients than controls (2.5% vs 0.6%; P = 0.001) on a background of lean body mass (median BMI, 20.4 and 21.8 kg/m2, respectively). Glucose excursions during an oral glucose load were higher in aldo B−/− patients (P = 0.043). Hypoglycosylated transferrin, a surrogate marker for hepatic fructose-1-phosphate concentrations, was more abundant in aldo B−/− patients than in controls (P < 0.001). Finally, plasma β-hydroxybutyrate, a biomarker of hepatic β-oxidation, was lower in aldo B−/− patients than controls (P = 0.009). Conclusions This study extends previous experimental findings by demonstrating that aldolase B deficiency also results in IHTG accumulation in humans. It suggests that the accumulation of fructose-1-phosphate and impairment of β-oxidation are involved in the pathogenesis.

scholarly journals Adolescent self-rated health predicts general practice attendance in adulthood: Results from the Young-HUNT1 survey

2018 ◽  
Vol 47 (1) ◽  
pp. 37-44 ◽  
Author(s):  
Øystein Hetlevik ◽  
Tina L. Vie ◽  
Eivind Meland ◽  
Hans J. Breidablik ◽  
David Jahanlu
Keyword(s):  
Health Care ◽  
General Practitioner ◽  
Body Satisfaction ◽  
Adult Life ◽  
Participation Rate ◽  
Well Being ◽  
Care Utilization ◽  
Future Health ◽  
Respiratory Problems ◽  
Self Rated Health

Aims: Self-rated health (SRH) is a predictor of future health. However, the association between SRH in adolescence and health problems and health care utilization in adulthood has rarely been investigated. The aim of this study was to examine adolescent SRH as a predictor of general practitioner consultations in adulthood. Methods: SRH was registered in the Young-HUNT1 survey in 1995–1997 ( N=8828, mean age 16 years, 88% participation rate). General practitioner consultations during 2006–2014 were obtained from a national claims database. The predictive value of adolescent SRH on general practitioner consultations in adulthood was analysed by regression models estimating the relative risks (RR) for the total number of consultations and consultations for psychological, gastrointestinal, musculoskeletal or respiratory problems. Age, sex and baseline measures of chronic disease and health care attendance were used as the adjusting variables. Results: SRH was reported as ‘very good’ by 28.4%, ‘good’ by 60.6% and ‘not good’ by 11.0% of the respondents. The increases in consultation rates were 21% (RR 1.21, 95% CI 1.15–1.27) and 52% (RR 1.52, 95% CI 1.40–1.64) when comparing respondents with ‘very good’ SRH to those with ‘good’ and ‘not good’ SRH, respectively. We also demonstrated a dose–response association between adolescent SRH and general practitioner consultations for psychological, gastrointestinal, musculoskeletal or respiratory problems. Conclusions: SRH in adolescence is a predictor for general practitioner consultations in adult life. Previous research shows that SRH is influenced by factors such as well-being, health behaviour, functional status and body satisfaction. Intervention studies are needed to evaluate whether population-based and clinical interventions can improve SRH by improving these factors among adolescents.

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