Cross-Sectional Associations between Mothers and Children’s Breakfast Routine—The Feel4Diabetes-Study

Positive influences of family members have been associated with a high probability of children’s daily breakfast consumption. Therefore, the aim of this study was to scrutinize the association of breakfast routines between mothers and their children. The baseline data of the Feel4Diabetes-study was obtained in 9760 children (49.05% boys)–mother pairs in six European countries. A parental self-reported questionnaire gauging the frequency of breakfast consumption and of breakfast´ foods and beverages consumption was used. Agreement in routines of mothers and their children’s breakfast consumption was analyzed in sex-specific crosstabs. The relationship of breakfast routine and food groups’ consumption between mothers and their children was assessed with analysis of covariance. The highest proportion of children who always consumed breakfast were those whose mothers always consumed it. Children consuming breakfast regularly had a higher intake of milk or unsweetened dairy products and all kind of cereal products (low fiber and whole-grain) than occasional breakfast consumers (p < 0.05). The strong similarity between mothers and children suggests a transfer of breakfast routine from mothers to their children, as a high proportion of children who usually consume breakfast were from mothers also consuming breakfast. All breakfast foods and beverages consumption frequencies were similar between children and their mothers.     

Overweight and Obesity in Old Age Are Not Associated with Greater Dementia Risk

OBJECTIVES: To describe the association between body mass index (BMI) and dementia risk in older persons. DESIGN: Prospective population‐based study, with 8 years of follow‐up. SETTING: The municipality of Lieto, Finland, 1990/91 and 1998/99. PARTICIPANTS: Six hundred five men and women without dementia aged 65 to 92 at baseline (mean age 70.8). MEASUREMENTS: Weight and height were measured at baseline and at the 8‐year follow‐up. Dementia was clinically assessed according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, criteria. RESULTS: Eighty‐six persons were diagnosed with dementia. Cox regression analyses, adjusted for age, sex, education, cardiovascular diseases, smoking, and alcohol use, indicated that, for each unit increase in BMI score, the risk of dementia decreased 8% (hazard ratio (HR)=0.92, 95% confidence interval (CI)=0.87–0.97). This association remained significant when individuals who developed dementia early during the first 4 years of follow‐up were excluded from the analyses (HR=0.93, 95% CI=0.86–0.99). Women with high BMI scores had a lower dementia risk (HR=0.90, 95% CI=0.84–0.96). Men with high BMI scores also tended to have a lower dementia risk, although the association did not reach significance (HR=0.95, 95% CI=0.84–1.07). CONCLUSION: Older persons with higher BMI scores have less dementia risk than their counterparts with lower BMI scores. High BMI scores in late life should not necessarily be considered to be a risk factor for dementia.     

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion

Mutations in SUCLA2, encoding the ß-subunit of succinyl-CoA synthetase of Krebs cycle, are one cause of mitochondrial DNA depletion syndrome. Patients have been reported to have severe progressive childhood-onset encephalomyopathy, and methylmalonic aciduria, often leading to death in childhood. We studied two families, with children manifesting with slowly progressive mitochondrial encephalomyopathy, hearing impairment and transient methylmalonic aciduria, without mtDNA depletion. The other family also showed dominant inheritance of bilateral retinoblastoma, which coexisted with mitochondrial encephalomyopathy in one patient. We found a variant in SUCLA2 leading to Asp333Gly change, homozygous in one patient and compound heterozygous in one. The latter patient also carried a deletion of 13q14 of the other allele, discovered with molecular karyotyping. The deletion spanned both SUCLA2 and RB1 gene regions, leading to manifestation of both mitochondrial disease and retinoblastoma. We made a homology model for human succinyl-CoA synthetase and used it for structure–function analysis of all reported pathogenic mutations in SUCLA2. On the basis of our model, all previously described mutations were predicted to result in decreased amounts of incorrectly assembled protein or disruption of ADP phosphorylation, explaining the severe early lethal manifestations. However, the Asp333Gly change was predicted to reduce the activity of the otherwise functional enzyme. On the basis of our findings, SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion. In addition, an encephalomyopathy in a patient with retinoblastoma suggests mutations affecting SUCLA2.Mitochondrial diseases are caused by genetic defects in nuclear or mitochondrial DNA (mtDNA) that disrupt function of the respiratory chain, compromising the synthesis of ATP. Most childhood-onset phenotypes are caused by autosomal recessive mutations in nuclear-encoded mitochondrial proteins. Mitochondrial diseases can manifest at any age, with almost any symptom, in almost any tissue, although the tissues with the largest dependence on oxidative energy supply, such as the central nervous system, sensory organs and skeletal muscle,¹ are most commonly affected. The wide clinical and genetic heterogeneity with overlapping phenotypes makes the diagnostics of mitochondrial diseases challenging.²mtDNA depletion syndrome is associated with many clinical phenotypes and has a variable genetic background. It can be caused by several nuclear genes, which typically impair mtDNA replication, repair or nucleotide synthesis.³ One of these genes is SUCLA2, encoding the β-subunit of the Krebs cycle enzyme ADP-forming succinyl-CoA synthetase (SCS-A). SCS catalyzes the reversible conversion of succinyl-CoA to succinate, accompanied by substrate-level phosphorylation of ADP or GDP.⁴ The enzyme is a heterodimer composed of a catalytic α-subunit, encoded by SUCLG1 and a β-subunit that determines the enzymes'' substrate specificity for either ADP (SUCLA2) or GDP (SUCLG2). SCS is widely expressed in mammalian tissues, with predominance of either the ADP- or GDP-forming form in each tissue. SUCLG1 is ubiquitously expressed, whereas expression of SUCLA2 dominates in catabolic tissues, in which the main source of energy is ATP, such as the brain, and is induced in heart and skeletal muscle.^{4, 5} Patients with SUCLA2 mutations typically have progressive childhood-onset Leigh-like encephalomyopathy associated with dystonia, hypotonia, sensorineural hearing deficit, lesions of the basal ganglia, depletion of mtDNA and methylmalonic aciduria.^{3, 6} Over 20 patients and five different mutations in SUCLA2 have been described.^{6, 7, 8, 9, 10}We report here molecular basis of mitochondrial encephalomyopathy, also combined with bilateral retinoblastoma, in patients with clinical symptoms or signs previously described in association with SUCLA2 mutations: encephalomyopathy with hearing deficit and methylmalonic aciduria.     

Time to change the glomerular filtration rate estimating formula in primary care?

BackgroundThe most commonly used equation for estimated glomerular filtration rate (eGFR) is nowadays the four-variable Modification of Diet in Renal Disease (MDRD) equation. This formula was derived from patients with non-diabetic chronic kidney disease (CKD) with mean GFR 40 ml/min.MethodsWe compared the MDRD study equation and the recently developed Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation by applying the two formulas in 1747 middle-aged cardiovascular risk persons in primary care.ResultsThe prevalence of renal insufficiency defined as eGFR < 60 ml/min was 6.7% (95% CI 5.6–8.0) according to the MDRD formula, and 3.6% (95% CI 2.8–4.6) according to the CKD-EPI formula. The subjects who were classified as having CKD according to the MDRD equation, but no-CKD according to the CKD-EPI formula, were mostly women (86%) and slightly younger than the subjects having CKD according to both formulas.ConclusionThe characteristics of the subjects commonly treated in primary care resemble more closely the population from which the CKD-EPI than the MDRD study equation was derived from. Thus, we suppose that in general practice, the CKD-EPI equation is more suitable for estimating renal function than the MDRD equation.