Patients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.

Novel Protocol for the Use of Advanced Hybrid Closed-Loop System in Adolescents Engaged in Contact Sports.

Introduction: Managing exercise remains challenging for adolescent athletes with type 1 diabetes (T1D), especially in contact sports. Even the use of hybrid closed loops can cause problems due to the need to disconnect the pump during some training or competitions. This study evaluated the efficacy of a novel protocol for the use of an advanced hybrid closed-loop system in adolescent football players with T1D during a sports camp.

Guidelines of the Polish Society of Pediatric Endocrinology and Diabetology and Pediatric Section of Diabetes Poland on insulin therapy using hybrid closed-loop systems in children and adolescents with diabetes in Poland.

Currently, hybrid closed loop (HCL) systems represent the most advantageous therapeutic option for people with diabetes requiring intensive insulin therapy. They make it possible to achieve optimal metabolic control of the disease in any age group while improving the quality of life of children and adolescents with diabetes and their families. Therefore, we present recommendations for the use of HCL systems in children and adolescents focusing on systems currently available in Poland.

Obesity-Related Complications Including Dysglycemia Based on 1-h Post-Load Plasma Glucose in Children and Adolescents Screened before and after COVID-19 Pandemic.

Childhood obesity, with its metabolic complications, is a problem of public health. The International Diabetes Federation (IDF) has recommended glucose levels 1 h post oral glucose load (1h-PG) > 155-209 mg/dL as diagnostic for intermediate hyperglycemia (IH), while >209 mg/dL for type 2 diabetes (T2D). The aim of the study was to assess the occurrence of prediabetes, IH, and T2D in children and adolescents with simple obesity according to the criteria of American Diabetes Association (ADA) and of IDF, and the effect of COVID-19 pandemic on these disorders.

Assessment of Skin Autofluorescence and Its Association with Glycated Hemoglobin, Cardiovascular Risk Markers, and Concomitant Chronic Diseases in Children with Type 1 Diabetes.

Unlabelled: Skin autofluorescence (sAF) measurement is a non-invasive method used to assess tissue advanced glycation end product (AGE) accumulation. This study aims to characterize sAF's association with (1) glycated hemoglobin (HbA1c) values, (2) cardiovascular risk markers, and (3) common comorbidities (autoimmune thyroiditis, celiac disease) in children with type 1 diabetes (T1D).

Materials And Methods: A total of 348 children with T1D aged 3-18 years and 85 age- and gender-matched control subjects were enrolled.

PD-1 Receptor (+) T cells are associated with the efficacy of the combined treatment with regulatory t cells and rituximab in type 1 diabetes children via regulatory t cells suppressive activity amelioration.

An imbalance between exaggerated autoaggressive T cell responses, primarily CD8 + T cells, and impaired tolerogenic mechanisms underlie the development of type 1 diabetes mellitus. Disease-modifying strategies, particularly immunotherapy focusing on FoxP3 + T regulatory cells (Treg), and B cells facilitating antigen presentation for T cells, show promise. Selective depletion of B cells may be achieved with an anti-CD20 monoclonal antibody (mAb).

Are the Classical Symptoms of Hypertension in Children Still Sensitive Enough?

The available literature is scarce on the initial symptoms of arterial hypertension in children. Our study aimed to analyze the initial clinical profile of patients referred to the hospital with suspected hypertension and those diagnosed with hypertension for the first time during a hospitalization for other reasons. This study was a retrospective analysis of medical records in 471 patients.

Lisdexamphetamine versus methylphenidate for paediatric patients with attention-deficit hyperactivity disorder and type 1 diabetes (LAMAinDiab): protocol for a multicentre, randomised cross-over clinical trial in an outpatient telemedicine-supported setting.

Introduction: Attention deficit hyperactivity disorder (ADHD) affects 5%-10% of paediatric population and is reportedly more common in children with type 1 diabetes (T1D), exacerbating its clinical course. Proper treatment of ADHD in such patients may thus provide neurological and metabolic benefits. To test this, we designed a non-commercial second phase clinical trial comparing the impact of different pharmacological interventions for ADHD in children with T1D.

Expanding the Role of Continuous Glucose Monitoring in Modern Diabetes Care Beyond Type 1 Disease.

Application of continuous glucose monitoring (CGM) has moved diabetes care from a reactive to a proactive process, in which a person with diabetes can prevent episodes of hypoglycemia or hyperglycemia, rather than taking action only once low and high glucose are detected. Consequently, CGM devices are now seen as the standard of care for people with type 1 diabetes mellitus (T1DM). Evidence now supports the use of CGM in people with type 2 diabetes mellitus (T2DM) on any treatment regimen, not just for those on insulin therapy.

Morphology and Selected Properties of Modified Potato Thermoplastic Starch.

Potato thermoplastic starch (TPS) containing 1 wt.% of pure halloysite (HNT), glycerol-modified halloysite (G-HNT) or polyester plasticizer-modified halloysite (PP-HNT) was prepared by melt-extrusion. Halloysites were characterized by FTIR, SEM, TGA, and DSC.

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.

In Wolfram syndrome (WFS), due to the loss of wolframin function, there is increased ER stress and, as a result, progressive neurodegenerative disorders, accompanied by insulin-dependent diabetes. The aim of the study was to evaluate the oral microbiome and metabolome in WFS patients compared with patients with type 1 diabetes mellitus (T1DM) and controls. The buccal and gingival samples were collected from 12 WFS patients, 29 HbA1c-matched T1DM patients ( = 0.

Continuous Glucose Monitoring in Enterally Fed Children with Severe Central Nervous System Impairment.

Unlabelled: Children with severe central nervous system (CNS) impairment are at risk of developing various degrees of nutritional deficit that require long-term nutritional intervention. Interventions are most often implemented through enteral nutrition (EN) using commercially manufactured feeds administered via gastro/jejunostomy or nasogastric or nasojejunal tubes. The modality of feeding-continuous feeding or bolus feeding-is dependent on the function of the gastrointestinal tract, particularly the efficiency of gastric emptying.

Incidence of hyperglycaemic disorders in children and adolescents with obesity.

Introduction: The prevalence of obesity in the paediatric population has increased significantly in recent decades. To date, the rarest metabolic disturbance associated with obesity has been the hyperglycaemia, including diabetes. The aim of the study was to compare the prevalence of hyperglycaemic disorders diagnosed on the basis of (1) the oral glucose tolerance test (OGTT) and (2) the HbA1c value, and to estimate the prevalence of hyperglycaemia in continuous glucose monitoring (CGM) records in adolescents with obesity.

Autoimmune reaction against pancreatic beta cells in children and adolescents with simple obesity.

Introduction: One of the most important complications of obesity is insulin resistance, which leads to carbohydrate metabolism disorders such as type 2 diabetes. However, obesity is also associated with development of an autoimmune response against various organs, including pancreatic beta cells. The prevalence of such autoimmune processes in children and their possible contribution to the increased incidence of type 1 diabetes is currently unclear.

Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters.

Background: Patients with the rare syndromic forms of monogenic diabetes: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) have multiple metabolic abnormalities, including early-onset obesity, insulin resistance, lipid disorders and type 2 diabetes mellitus. The aim of this study was to determine if the expression of circulating miRNAs in patients with ALMS and BBS differs from that in healthy and obese individuals and determine if miRNA levels correlate with metabolic tests, BMI-SDS and patient age.

Methods: We quantified miRNA expression (Qiagen, Germany) in four groups of patients: with ALMS (n=13), with BBS (n=7), patients with obesity (n=19) and controls (n=23).

Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy.

Objectives: Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes.

Multi-Timepoint Metabolic Fingerprinting of a Post-Episode Period of Hypoglycemia and Ketoacidosis Among Children With Type 1 Diabetes.

Acute complications of type 1 diabetes mellitus such as diabetes ketoacidosis (DKA) and hypoglycemia (HG) are detrimental in a short- and long-term perspective. Restoration of normoglycemia and correction of pH do not mean that all metabolic disturbances caused by HG or DKA are immediately reversed. This study aimed to identify serum metabolic changes caused by an episode of DKA and HG that may indicate the mechanisms contributing to long-term consequences of DKA/HG.

Diabetic ketoacidosis incidence among children with new-onset type 1 diabetes in Poland and its association with COVID-19 outbreak-Two-year cross-sectional national observation by PolPeDiab Study Group.

Background: There are several observations that the onset of coronavirus 19 (COVID-19) pandemic was associated with an increase in the incidence of diabetic ketoacidosis (DKA). However, due to heterogeneity in study designs and country-specific healthcare policies, more national-level evidence is needed to provide generalizable conclusions.

Objective: To compare the rate of DKA in Polish children diagnosed with type 1 diabetes (T1D) between the first year of COVID-19 pandemic (15 March 2020 to 15 March 2021) and the preceding year (15 March 2019 to 15 March 2020).

Morphology and Properties of Poly(2,6-dimethyl-1,4-phenylene oxide)/Polyamide 11 Hybrid Nanocomposites: Effect of Silica Surface Modification.

Poly(2,6-dimethyl-1,4-phenylene oxide)/polyamide 11 (PPO/PA11 80/20) blend filled with neat (SiO) or modified silica having amine functional groups (A-SiO) was melt mixing in a twin-screw extruder. The silica was prepared by the sol-gel process. SEM shows that, with increasing A-SiO content from 1 to 5 wt.

Combined therapy with CD4 CD25highCD127 T regulatory cells and anti-CD20 antibody in recent-onset type 1 diabetes is superior to monotherapy: Randomized phase I/II trial.

Aims: Monotherapy with autologous expanded CD4 CD25 CD127 T regulatory cells (Tregs) or rituximab has been documented to slow disease progression in patients with recent-onset type 1 diabetes mellitus (T1DM). Whether a combined therapy including both drugs would further benefit this patient population is unknown.

Materials And Methods: We conducted a three-arms clinical trial to explore the efficacy and safety of the combined treatment with Tregs and rituximab in paediatric patients with T1DM.

Psychiatric Comorbidities in Pediatric Monogenic Diabetes due to GCK Mutation: Impact on Diabetes-Related Quality of Life.

Background: Monogenic diabetes caused by mutation in the glucokinase gene (GCK-MD) is a rare disorder manifesting in childhood as mild, prevalent hyperglycemia. By consensus, it is managed by dietary supervision and infrequent consultations. However, its impact on the mental health of the affected children is largely unknown.