NIAGADS: A Comprehensive National Data Repository for Alzheimer's Disease and Related Dementia Genetics and Genomics Research.

NIAGADS is the National Institute on Aging (NIA) designated national data repository for human genetics research on Alzheimer's Disease and related dementia (ADRD). NIAGADS maintains a high-quality data collection for ADRD genetic/genomic research and supports genetics data production and analysis. NIAGADS hosts whole genome and exome sequence data from the Alzheimer's Disease Sequencing Project (ADSP) and other genotype/phenotype data, encompassing 209,000 samples.

Sociodemographic factors affecting glycaemic control in Finnish paediatric patients with type 1 diabetes.

Aims: Socioeconomic problems may present significant challenges when trying to reach optimal glycaemic control in paediatric patients with type 1 diabetes. We examined sociodemographic factors affecting metabolic control in patients in one of the biggest paediatric diabetes clinics in Finland.

Methods: One hundred ninety-one children (age 2-15 years; median 11 years; 47% female) with type 1 diabetes and their families were recruited during outpatient visits in the paediatric diabetes clinic of Tampere University Hospital, Finland.

In search of measures to improve the detection of increased cardiometabolic risk in children using second-generation antipsychotic medications.

Purpose: Second-generation antipsychotic medications (SGAs) are widely used in child psychiatry. SGA-induced metabolic disturbances are common in children, but monitoring practices need systematisation. The study's aims were to test an SGA-monitoring protocol, examine the distributions of metabolic measurements compared to reference values in child psychiatry patients, and determine whether using a homeostasis model for the assessment of insulin resistance (HOMA-IR) and triglyceride/high-density lipoprotein (TG/HDL) ratio could improve the detection of increased cardiometabolic risk.

Adjustment of Insulin Pump Settings in Type 1 Diabetes Management: Advisor Pro Device Compared to Physicians' Recommendations.

Aims: To compare insulin dose adjustments made by physicians to those made by an artificial intelligence-based decision support system, the Advisor Pro, in people with type 1 diabetes (T1D) using an insulin pump and self-monitoring blood glucose (SMBG).

Methods: This was a multinational, non-interventional study surveying 17 physicians from 11 countries. Each physician was asked to provide insulin dose adjustments for the settings of the pump including basal rate, carbohydrate-to-insulin ratios (CRs), and correction factors (CFs) for 15 data sets of pumps and SMBG of people with T1D (mean age 18.

Extended family history of type 1 diabetes in HLA-predisposed children with and without islet autoantibodies.

Objective: The aim of this study was to explore the extended family history of type 1 diabetes in children at genetic risk and define the impact of a positive family history on the development of islet autoimmunity and type 1 diabetes.

Methods: The subjects were participants in The Finnish Type 1 Diabetes Prediction and Prevention (DIPP) study and carried increased HLA-conferred risk for type 1 diabetes. The case children (N = 343) were positive for at least one islet autoantibody, and the control children (N = 343) matched by age, gender and class II HLA genotype were negative for islet autoantibodies at the time of data collection.

Current follow-up practices often fail to detect metabolic and neurological adverse reactions in children treated with second-generation antipsychotics.

Aim: This study examined the use and adverse reactions of second-generation antipsychotics (SGAs), alone or combined with other psychotropic medication, to identify areas for standardising prescribing and monitoring practices.

Methods: We conducted a retrospective study at Tampere University Hospital, Finland, involving 128 patients (81% boys) who were under 13 years old at SGA initiation and had SGA treatment between October 2013 and October 2014.

Results: The median age at baseline was 9.

A pragmatic controlled trial to prevent childhood obesity within a risk group at maternity and child health-care clinics: results up to six years of age (the VACOPP study).

Background: Obesity in childhood appears often during the toddler years. The prenatal environment influences obesity risk. Maternal gestational diabetes, the child's diet, and physical activity in the first few years have an important role in subsequent weight gain.

Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.

Context: Major advances have been made in the classification and genetics of monogenic diabetes in infancy.

Objective: The objective of the study was to characterize different forms of diabetes diagnosed during the first year of life.

Design: Patients diagnosed with diabetes before the age of 1 year in 10 Finnish hospitals from 1980 to 2014 were included.

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene.

Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Aim: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment.

Methods: From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland.

[Hypoglycemias as a therapeutic issue in type 1 diabetes?].

Patients with type 1 diabetes have an average of two symptomatic hypoglycemias in a week and at least one severe hypoglycemia in a year. The most common causes of hypoglycemia are overcorrection of hyperglycemia, excessive basal insulin dose, and physical exercise. Fear of hypoglycemia is common and leads to poor control of diabetes.

Virus antibody survey in different European populations indicates risk association between coxsackievirus B1 and type 1 diabetes.

Enteroviruses (EVs) have been connected to type 1 diabetes in various studies. The current study evaluates the association between specific EV subtypes and type 1 diabetes by measuring type-specific antibodies against the group B coxsackieviruses (CVBs), which have been linked to diabetes in previous surveys. Altogether, 249 children with newly diagnosed type 1 diabetes and 249 control children matched according to sampling time, sex, age, and country were recruited in Finland, Sweden, England, France, and Greece between 2001 and 2005 (mean age 9 years; 55% male).

Insulin secretion and sensitivity in the prediction of type 1 diabetes in children with advanced β-cell autoimmunity.

Objective: Reduced early insulin response has been shown to predict type 1 diabetes (T1D) in first-degree relatives of diabetic patients, while its role, as well as that of insulin resistance, has remained poorly defined in young children representing the general population. The predictive values of these markers and their relation to other risk factors of T1D were assessed in children with advanced β-cell autoimmunity, i.e.

Pragmatic controlled trial to prevent childhood obesity in maternity and child health care clinics: pregnancy and infant weight outcomes (the VACOPP Study).

Background: According to current evidence, the prevention of obesity should start early in life. Even the prenatal environment may expose a child to unhealthy weight gain; maternal gestational diabetes is known to be among the prenatal risk factors conducive to obesity. Here we report the effects of antenatal dietary and physical activity counselling on pregnancy and infant weight gain outcomes.

Behavioral counseling to prevent childhood obesity--study protocol of a pragmatic trial in maternity and child health care.

Background: Prevention is considered effective in combating the obesity epidemic. Prenatal environment may increase offspring's risk for obesity. A child starts to adopt food preferences and other behavioral habits affecting weight gain during preschool years.

Academic skills in children with early-onset type 1 diabetes: the effects of diabetes-related risk factors.

Aim: The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia,on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM).

Method: The study comprised 63 children with T1DM (31 females, 32 males; mean age 9 y 11 mo,SD 4 mo) and 92 comparison children without diabetes (40 females, 52 males;mean age 9 y 9 mo,SD 3 mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study.

Lifestyle counseling during pregnancy and offspring weight development until four years of age: follow-up study of a controlled trial.

Background: Fetal conditions are known to be partly responsible for the child's risk for obesity. Our pilot study aimed to determine the effect of gestational lifestyle counseling on the offspring weight gain until 4 years of age and to estimate power for future studies.

Design And Methods: First-time pregnant mothers participated in a controlled trial conducted in maternity health clinics during 2004 - 2006.

Lifestyle counselling targeting infant's mother during the child's first year and offspring weight development until 4 years of age: a follow-up study of a cluster RCT.

Objective: To investigate the effect of intensified lifestyle counselling targeting infants' mothers on offspring weight development during the first 4 years of life.

Design And Setting: Follow-up of a cluster-randomised controlled trial in primary care child health clinics during 2004-2006 in Finland. Participants received a follow-up survey during 2010 concerning weight and height measurements of their offspring.

GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus.

Background: The 65-kD isoform of glutamic acid decarboxylase (GAD65) is a major autoantigen in type 1 diabetes. We hypothesized that alum-formulated GAD65 (GAD-alum) can preserve beta-cell function in patients with recent-onset type 1 diabetes.

Methods: We studied 334 patients, 10 to 20 years of age, with type 1 diabetes, fasting C-peptide levels of more than 0.

[Insulin-induced lipoatrophy in children].

Insulin-induced lipoatrophy is a rare but serious complication of insulin treatment. Its incidence decreased during 1970' and 1980's, but several reports of this phenomenon have again recently been published. Traditional treatment options have included injecting insulin or pump cannula to the area surrounding the lipoatrophy or changing the insulin type or preparation.

Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes.

Deficiencies of urea cycle enzymes are rare metabolic disorders. Inadequate function of these enzymes may in worst cases lead to hyperammonemic encephalopathy and death. The danger of urea cycle enzyme deficiencies is that previously healthy adults with no prior medical history suggesting these deficiencies may suddenly develop life-threatening complications during prolonged catabolic situations such as delivery or surgery.

Dysregulation of lipid and amino acid metabolism precedes islet autoimmunity in children who later progress to type 1 diabetes.

The risk determinants of type 1 diabetes, initiators of autoimmune response, mechanisms regulating progress toward beta cell failure, and factors determining time of presentation of clinical diabetes are poorly understood. We investigated changes in the serum metabolome prospectively in children who later progressed to type 1 diabetes. Serum metabolite profiles were compared between sample series drawn from 56 children who progressed to type 1 diabetes and 73 controls who remained nondiabetic and permanently autoantibody negative.

Hereditary urea cycle diseases in Finland.

Aim: To estimate the incidence of urea cycle diseases (UCDs) in Finland and determine the course of the various disorders as well as the outcome.

Methods: The original data were collected in the years 1998-2001. The diagnoses made after 2001, as well as the current status of the patients, were updated by surveys in the spring of 2007.