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.