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.

EDENT1FI Master Protocol for screening of presymptomatic early-stage type 1 diabetes in children and adolescents.

Introduction: The identification of type 1 diabetes at an early presymptomatic stage has clinical benefits. These include a reduced risk of diabetic ketoacidosis (DKA) at the clinical manifestation of the disease and a significant reduction in clinical symptoms. The European action for the Diagnosis of Early Non-clinical Type 1 diabetes For disease Interception (EDENT1FI) represents a pioneering effort to advance early detection of type 1 diabetes through public health screening.

Glucose Metabolism Disorders and Parkinson's Disease: Coincidence or Indicator of Dysautonomia?

Parkinson's disease (PD) and type 2 diabetes mellitus (T2DM) are both age-related diseases. Evidence from recent studies suggests a link between them. The existence of an interaction between autonomic nervous system dysfunction and the dysregulation of glucose metabolism is one of the proposed mechanisms to explain the complicated relationship between these diseases.

Use of automated insulin delivery during major surgery in patients with type 1 diabetes: Two case reports.

With the rapid advancement of diabetes technology, the number of patients with type 1 diabetes (T1D) using automated insulin delivery (AID) systems is increasing, making the presence of such patients in the perioperative period more common. This study presents two cases of T1D patients who underwent thyroidectomy while using AID, following a protocol designed in collaboration with the diabetology, anesthesiology, and surgical teams. Two female patients, aged 12 and 33 years, both using AID systems, were admitted for elective thyroidectomy.

Effects of different types of meals on postprandial glycaemia in healthy subjects.

Nowadays, continuous glycaemic monitoring systems are used primarily for diabetic patients. The most popular continuous glycaemic monitoring (CGMs) measure the glucose concentration in the interstitial fluid every 1 or 5 minutes, providing the patient with 288 or 1,440 measurements in a day. CGM is also useful for observing sudden changes in glycaemia after the introduction of dietary interventions and those related to physical activity.

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.

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).

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.

Nutrition analysis - with particular focus on carbohydrate content in kefirs and natural yoghurts in the Polish consumer market.

The aim of the study was to assess the nutrition of selected fermented dairy products available in Polish supermarkets and how many of them meet the criterion set by the European Parliament and Council Act (UE) no. 1924/2006 form 20 December 2006 on nutrition and health claims made on foods regarding low sugar content in a solid product. In the study 100 fermented products, widely available in Polish supermarkets, were selected, and their nutrition was analysed based on the information placed on the producer's label, and the carbohydrate content was compared against the recommended 5 g per 100 g of the solid product.

MiniMed 780GTM in children with type 1 diabetes under seven years of age: Prospective open-label, single-arm, double-center, follow-up study.

Background: Given the steadily rising incidence of type 1 diabetes (T1D), particularly among the youngest preschool children, coupled with well-documented challenges of achieving and maintaining optimal metabolic control in this age group, there is a growing need for advanced technological devices.

Objective: To evaluate glycaemic control in children below the age of seven with type 1 diabetes (T1D) and assess the safety of the advanced hybrid closed loop (AHCL) system in comparison to the previous treatment method, a sensor-augmented pump with predictive low-glucose suspend (SAP-PLGS).

Method: Data from 10 children (aged 2.

Body mass index and partial remission in 119 children with type 1 diabetes-a 6-year observational study.

Background/objective: This long-term study aimed to analyze the associations between BMI -score, HbA1c, and daily insulin requirement (DIR) and the prevalence and duration of partial remission (PR) in children and adolescents with type 1 diabetes (T1D).

Methods: After retrieving retrospective data for 195 patients from their health records at 24, 48, and 72 months after T1D diagnosis, the study group was comprised of 119 (57 girls) children with a complete dataset for all 6 years. PR was defined according to the ISPAD guidelines.

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.

The role and need for psychological support in the treatment of adolescents and young people suffering from type 1 diabetes.

Psychological support might be perceived as one of the most important factors in the treatment of people suffering from type 1 diabetes, particularly among vulnerable groups such as adolescents and young people. Problems arising from extreme pressure put on young patients, high expectations, and specific limitations associated with diabetes often reflect in negative wellbeing and affect patients' behavior, resulting in lower self-esteem, mood swings, depression, or even eating disorders. Therefore, the need for a more holistic approach to the treatment of diabetes and caring about psychological support can be observed, which may contribute to better functioning and management of the disease.

Body mass index, basal insulin and glycemic control in children with type 1 diabetes treated with the advanced hybrid closed loop system remain stable - 1-year prospective, observational, two-center study.

Background: Information on the influence of insulin treatment using advanced hybrid closed loop systems (AHCL) on body weight of young patients with type 1 diabetes (T1D) is scarce. The aim of this study was to observe whether there were any changes in body mass index (BMI) of children and adolescents with T1D treated using the Medtronic Minimed 780G AHCL after 1 year of follow up and to analyze potential associations between these changes and the insulin doses.

Materials And Methods: For 50 children and adolescents (age 5.

Age-period-cohort modelling of type 1 diabetes incidence rates among children included in the EURODIAB 25-year follow-up study.

Aims: Specific patterns in incidence may reveal environmental explanations for type 1 diabetes incidence. We aimed to study type 1 diabetes incidence in European childhood populations to assess whether an increase could be attributed to either period or cohort effects.

Methods: Nineteen EURODIAB centres provided single year incidence data for ages 0-14 in the 25-year period 1989-2013.

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).

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.

Severe malnutrition as a cause of transient carbohydrate metabolism disorders which evolved into hyperosmolar hyperglycaemic state.

The hyperosmolar hyperglycaemic state (HHS) is a very severe condition characterised by hyperosmolality, hyperglycaemia and dehydration without significant ketosis. The article presents the case of a 14.5-year-old cachectic patient with diagnosed HHS.