Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children and 3 adult patients with genetically confirmed PEPCK-C deficiency were diagnosed during the years 2016 to 2019 and the available biochemical and clinical data were collected. All patients were ethnic Finns. Most patients (22 out of 24) had a previously published homozygous PCK1 variant c.925G>A. Two patients had a novel compound heterozygous PCK1 variant c.925G>A and c.716C>T. The laboratory results showed abnormal urine organic acid profile with increased tricarboxylic acid cycle intermediates and inadequate ketone body production during hypoglycemia. The hypoglycemic episodes manifested predominantly in the morning. Infections, fasting or poor food intake, heavy exercise, alcohol consumption, and breastfeeding were identified as triggering factors. Five patients presented with neonatal hypoglycemia. Hypoglycemic seizures occurred in half of the patients (12 out of 24). The first hypoglycemic episode often occurred at the age of 1-2 years, but it sometimes presented at a later age, and could re-occur during school age or adulthood. This study adds to the laboratory data on PEPCK-C deficiency, confirming the recognizable urine organic acid pattern and identifying deficient ketogenesis as a novel laboratory finding. The phenotype is expanded suggesting that the risk of hypoglycemia may continue into adulthood if predisposing factors are present.

Relationship of maternal weight status and weight gain rate during pregnancy to the development of advanced beta cell autoimmunity in the offspring: a prospective birth cohort study.

OBJECTIVE: This study set out to examine how maternal initial body mass index (BMI) and weight gain during pregnancy associate with advanced beta cell autoimmunity in the offspring. SUBJECTS: A population-based birth cohort of 4093 children with increased human leukocyte antigen (HLA)-conferred susceptibility to type 1 diabetes (T1D) and their mothers were recruited between 1997 and 2002 in two university hospital regions in Finland. METHODS: The children were monitored for T1D-associated autoantibodies at 3- to 12-month intervals. Advanced beta cell autoimmunity was defined as repeated positivity for islet cell antibodies and at least one of the other three autoantibodies (antibodies to insulin, glutamate decarboxylase and islet antigen 2). Mothers were asked to record the results of the weight measurements during their first and last visits to the antenatal clinic. The initial BMI and weight gain rate were calculated for each woman. RESULTS: Altogether, 175 children developed advanced beta cell autoimmunity or T1D during the follow-up. Maternal BMI before pregnancy or weight gain during pregnancy was not associated with the end-point. Maternal vocational education was associated with child's smaller risk of developing advanced beta cell autoimmunity.

Determinants of breast-feeding in a Finnish birth cohort.

OBJECTIVE: To assess milk feeding on the maternity ward and during infancy, and their relationship to sociodemographic determinants. The validity of our 3-month questionnaire in measuring hospital feeding was assessed. DESIGN: A prospective Finnish birth cohort with increased risk to type 1 diabetes recruited between 1996 and 2004. The families completed a follow-up form on the age at introduction of new foods and age-specific dietary questionnaires. SETTING: Type 1 Diabetes Prediction and Prevention (DIPP) project, Finland. SUBJECTS: A cohort of 5993 children (77 % of those invited) participated in the main study, and 117 randomly selected infants in the validation study. RESULTS: Breast milk was the predominant milk on the maternity ward given to 99 % of the infants. Altogether, 80 % of the women recalled their child being fed supplementary milk (donated breast milk or infant formula) on the maternity ward. The median duration of exclusive breast-feeding was 1.4 months (range 0-8) and that of total breast-feeding 7.0 months (0-25). Additional milk feeding on the maternity ward, short parental education, maternal smoking during pregnancy, small gestational age and having no siblings were associated with a risk of short duration of both exclusive and total breast-feeding. In the validation study, 78 % of the milk types given on the maternity ward fell into the same category, according to the questionnaire and hospital records. CONCLUSIONS: The recommendations for infant feeding were not achieved. Infant feeding is strongly influenced by sociodemographic determinants and feeding practices on the maternity wards. Long-term breast-feeding may be supported by active promotion on the maternity ward.

Some similarities in dietary clusters of pre-school children and their mothers.

The diet of pre-school children is determined by the parents and carers. The aim of the present study was to describe dietary clusters of pre-school children and their mothers in Finland, and analyse the similarity of dietary clusters within child-mother pairs. The present study comprised the mothers (n 4862) whose child was recruited in the Type 1 Diabetes Prediction and Prevention Nutrition Study and the children belonging to selected, cross-sectional age groups of 1 year (n 719), 3 years (n 708) and 6 years (n 841). The dietary data were collected from children by 3-d food records and from mothers by a FFQ validated for pregnant women. The food consumption data were analysed for patterns by hierarchical cluster analysis. Three main dietary clusters were identified in children: 'healthy' and 'traditional' in all three age groups, and 'ready-to-eat baby foods' in 1-year-olds and 'fast foods, sweet' in the older children. Six main clusters were identified among the mothers who completed a FFQ for their diet during pregnancy. Some familial dependence between dietary clusters of mother-child pairs was observed in 6-year-old children but not in younger children. Younger age and lower educational level of the mother were associated with the cluster 'fast food, sweet' only at the age of 3 years. The diets of pre-school children vary by age and only a slight similarity within dietary clusters of mother-child pairs was observed.

Unhealthy dietary patterns are associated with weight gain during pregnancy among Finnish women.

OBJECTIVE: To study whether the dietary patterns of Finnish pregnant women are associated with their weight gain rate during pregnancy. DESIGN: A validated 181-item FFQ was applied retrospectively to assess the diet during the eighth month of pregnancy, and maternal height and maternal weight at first and last antenatal visits were recalled. Information on sociodemographic characteristics, parity and smoking of the pregnant women was obtained by a structured questionnaire and from the Finnish Birth Registry. Principal components analysis was used to identify dietary patterns that described the diet of pregnant women based on their food consumption profile. SETTING: Finland. SUBJECTS: Subjects consisted of 3360 women who had newly delivered in 1997-2002 and whose baby carried human leucocyte antigen-conferred susceptibility to type 1 diabetes in two university hospital regions, Oulu and Tampere, in Finland. RESULTS: Out of seven dietary patterns identified, the 'fast food' pattern was positively associated (beta = 0.010, se = 0.003, P = 0.004) and the 'alcohol and butter' pattern was inversely associated (beta = -0.010, se = 0.003, P < 0.0001) with weight gain rate (kg/week) during pregnancy after adjusting for potential dietary, perinatal and sociodemographic confounding factors. Both of the dietary pattern associations demonstrated dose dependency. CONCLUSIONS: Pregnant women should be guided to have a well-planned, balanced, healthy diet during pregnancy in order to avoid rapid gestational weight gain. The association between diet, health and maternal weight gain of the women who consumed alcohol during pregnancy should be studied further.

Diet as a risk factor for pneumococcal carriage and otitis media: a cross-sectional study among children in day care centers.

BACKGROUND: Pharyngeal bacteria are exposed to different sugar conditions depending on the diet of the child. We hypothesized that dietary factors such as daily intake of carbohydrates could be associated with pneumococcal carriage and the occurrence of otitis media in children. METHODS: Our study design was a cross-sectional study among 1006 children attending child day care centers. Parents filled in a food frequency questionnaire. Oropharyngeal swabs were collected from each child. The primary outcome was the occurrence of pneumococcal carriage and the secondary outcome the number of acute otitis media episodes during life. Principal component analysis was used to group dietary intake into nine factors. The models were adjusted for age, gender of the child and educational level of the mother. RESULTS: The dietary factor which included high consumption of sweet pastries and jam was associated with an increased risk of pneumococcal carriage (OR 1.17, 95% CI 1.01 to 1.36, P-value 0.04). The factor including frequent consumption of fruit and berries was associated with a decreased risk of acute otitis (regression coefficient -0.51, 95% CI -0.98 to -0.03, P=0.04). A high intake of consumption of sweets and snacks (OR 1.36, 95% CI 1.03 to 1.80, P=0.03) was associated with an increased risk of caries. CONCLUSIONS: Diet was associated with a risk of pneumococcal carriage and the occurrence of otitis media. Diet may thus be a modifiable risk factor for the occurrence of acute otitis media.

Seven distinct dietary patterns identified among pregnant Finnish women--associations with nutrient intake and sociodemographic factors.

OBJECTIVES: To identify and describe dietary patterns in a cohort of pregnant women and investigate whether the dietary patterns are associated with dietary intake and sociodemographic factors. DESIGN: Mothers entering the Finnish Type 1 Diabetes Prediction and Prevention (DIPP) Nutrition Study in 1997-2002 were retrospectively asked to complete a food-frequency questionnaire concerning their diet during pregnancy. Principal components analysis was used to identify dietary patterns. SETTING: Finland. SUBJECTS: Subjects were 3730 women with a newborn infant carrying increased genetic susceptibility to type 1 diabetes mellitus. RESULTS: Seven factors were identified and named. Energy intake correlated positively with 'Healthy', 'Fast food', 'Traditional bread', 'Traditional meat' and 'Coffee' patterns and inversely with the 'Alcohol and butter' pattern. Intake of dietary fibre correlated positively with 'Healthy', 'Traditional bread' and 'Low-fat foods' patterns and inversely with the 'Alcohol and butter' pattern. The seven dietary patterns seemed to account for relatively large proportions of the variance in energy and nutrient intakes except for the intake of vitamin D, vitamin C, carotenoids and calcium. Maternal age and higher level of education were associated with higher scores on 'Healthy', 'Low-fat foods' and 'Alcohol and butter' patterns. CONCLUSION: Principal components analysis produced seven dietary patterns which may be useful for further research concerning maternal diet and health outcomes among both mothers and their offspring.

Dietary intake and use of dietary supplements in relation to demographic variables among pregnant Finnish women.

Proper nutrition during pregnancy may be important for maternal health and fetal growth and development. In Finland, targeted recommendations are given to guide pregnant women in their food choice and dietary supplement use so that they may obtain adequate nutritional status and meet the increased need for nutrients. The aims of the present study were to examine food choices, nutrient intake and dietary supplement use of pregnant Finnish women in association with demographic variables. One thousand and seventy-five families were invited to a birth cohort study during 1998-9. Mothers of 797 newborns completed a validated 181-item food-frequency questionnaire from which the food and nutrient intakes were calculated. The information about supplement use was collected concerning the whole pregnancy. The results of the present study suggest that healthy food choices are rather common among pregnant Finnish women and the choices are positively correlated with age and education. Nutrient supplements were used by 85 % of the women. Supplements were favoured by the older and well-educated women and by those who had normal weight before pregnancy. Of the women in the present study, 31 % received vitamin A-containing supplements, although it is not recommended during pregnancy. Taking food and supplementation into account, the intake of vitamin D did not meet the dietary recommendation and folic acid intake was below recommendation in 44 % of the women. Therefore there seemed to be unnecessary nutrient supplementation and at the same time lack of relevant supplementation among these pregnant women.