Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an early state and may be diagnosed after diabetes’ onset. Prognosis is poor, and the death occurs at the median age of 39 years as a consequence of progressive respiratory impairment, secondary to brain atrophy and neurological failure. The aim of this paper is the description of the metabolic treatment of the WS. We reported the experience of long treatment in patients with this syndrome diagnosed in pediatric age and followed also in adult age. It is known that there is a correlation between metabolic control of diabetes, the onset of other associated symptoms, and the progression of the neurodegenerative alterations. Therefore, a multidisciplinary approach is necessary in order to prevent, treat and carefully monitor all the comorbidities that may occur. An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy.

Type 1 diabetes mellitus (DM) is characterized by irreversible, autoimmune, pancreatic β-cell destruction. During the disease, some patients experience a phase of Partial Clinical Remission (PCR) known as “honeymoon.” This is a transitory period that is characterized by insulin production by residual β cells following DM diagnosis and initiating the insulin therapy. In this study, we aimed to evaluate the influence of insulin production on immune system after the onset of diabetes, and we showed that the duration of honeymoon period could be related to the onset of other autoimmune conditions. For this retrospective study, 159 children aged between 11 and 18 years with type 1 DM were eligible. They have been diagnosed diabetes at least 10 years ago and use exogenous insulin. Our results showed that younger age at the onset of Type 1 DM in children, predicts Celiac Disease. Female sex and low HCO₃ levels at the onset of DM had a high predictive value on patients who did not experience longer Partial Clinical Remission phase. Patients with higher BMI at the diagnosis of DM experienced shorter honeymoon period than the average. Smaller of our patients who diagnosed just DM have more than 297 days honeymoon period with respect to patients with one associated autoimmune disease. This may be due to a continuous and prolonged stimulation of immune system during the period of honeymoon that predispose the patient to develop other TH1 diseases. The patients who experienced more than 297 days Partial Clinical Remission seem under risk of developing one other autoimmune disease more than the patients who experienced less than 297 days Partial Clinical Remission. We have to consider that this observation is very intriguing because many protocols spring-up to try prolonging the honeymoon period in patients with autoimmune DM. If this aim is important from a metabolic point of view, long follow-ups are needed to be sure that the risk of other autoimmune diseases does not increase.

Cow’s milk allergy (CMA) is one of the most common pediatric food allergies. The prevalence and severity of CMA have increased dramatically in the last decades, under the pressure of environmental factors in genetically predisposed individuals. Among the environmental influences, nutritional factors play a crucial role. Diet is the most modifiable factor, representing a potential target for the prevention and treatment of CMA. In this review, we report the most scientific-based nutritional strategies for preventing and managing pediatric CMA. In addition, we propose the most complete supplement of compounds able to prevent nutrient deficiencies in CMA pediatric patients and to positively influence the disease course.

Nutrition plays a crucial role for the bio-psycho-social growth and development of children. Mother-child pairs’ eating-feeding problems can be hypothesized to relate to the child’s nutritional status and living area. Our focus was to assess maternal attitudes and children’s eating habits in thin and normal-weight children across two cities characterized by distinct socioeconomic and demographic profiles: Ankara and Şanlıurfa. This double case-control study included the mothers whose children are aged between 2 and 7 years old in both cities. Figure Rating Scale, Child Feeding Questionnaire and Behavioral Pediatrics Feeding Assessment Scale were filled by mothers of children. The mothers of thin children were concerned more about the weight of their children, felt more responsible for feeding their children, and use of pressured them to eat more frequently compared to normal-weight children’s mothers in both cities. In Ankara, the duration of breastfeeding is longer, using formula is rarer and starting complementary food on time is more common, mother had higher scores on perceived responsibility, perceived child weight, and concern about child weight subscales; lower score on the restriction subscale compared to Şanlıurfa. Mothers of both thin and normal weight children in Şanlıurfa rated their children as weaker compared to those in Ankara. In conclusion, child eating behaviors and parental feeding practices were associated with the weight of children depending on demographic and sociocultural differences. Implementing customized, location-specific preventive educational initiatives on child feeding will not only foster behavioral changes but also yield valuable insights for shaping future interventions.

Congenital diabetes mellitus is a rare disorder characterized by hyperglycemia that occurs shortly after birth. We define “Diabetes of Infancy” if hyperglycemia onset before 6 months of life. From the clinical point of view, we distinguish two main types of diabetes of infancy: transient (TNDM), which remits spontaneously, and permanent (PNDM), which requires lifelong treatment. TNDM may relapse later in life. About 50% of cases are transient (TNDM) and 50% permanent. Clinical manifestations include severe intrauterine growth retardation, hyperglycemia and dehydration. A wide range of different associated clinical signs including facial dysmorphism, deafness and neurological, cardiac, kidney or urinary tract anomalies are reported. Developmental delay and learning difficulties may also be observed. In this paper we review all the causes of congenital diabetes and all genes and syndromes involved in this pathology. The discovery of the pathogenesis of most forms of congenital diabetes has made it possible to adapt the therapy to the diagnosis and in the forms of alteration of the potassium channels of the pancreatic Beta cells the switch from insulin to glibenclamide per os has greatly improved the quality of life. Congenital diabetes, although it is a very rare form, has been at the must of research in recent years especially for pathogenesis and pharmacogenetics. The most striking difference compared to the more frequent autoimmune diabetes in children (type 1 diabetes) is the possibility of treatment with hypoglycemic agents and the apparent lower frequency of chronic complications.

Continuous Glucose Monitoring (CGM) may help detect early dysglycemia in Transfusion-Dependent Thalassemia (TDT) patients, though previous reports suggest it may overestimate prediabetes prevalence. This study analyzed glucose-related metrics in TDT patients with negative diabetes screening tests, compared with healthy controls. A secondary objective was to assess the association between TAR140 > 6 % and clinical/laboratory characteristics of patients. Patients resulted negative to the screening tests for glucose disorders were compared to healthy controls using CGM system for 7 days. This study involved 39 participants (19 patients, 20 controls). HbA1c was falsely elevated in patients, despite normal mean glucose and GMI. Standard deviations and coefficients of variation were higher in patients than controls. No healthy control but 7/19 (37 %) TDT patients presented the interval TAR140 > 6 %. Significant differences were observed between "really euglycaemic" TDT patients (TAR140 ≤ 6 %) and "hyperglycemic" ones (TAR140 > 6 %) in terms of GMI, mean glucose and TAR140%. Comparing the glucose metrics of TDT euglycaemic patients (TAR140 ≤ 6 %) and healthy controls, no significant difference was reported. No differences in iron overload indexes were found between the hyperglycemia and euglycemia groups. CGM reliably detects prediabetes in 37 % of TDT patients. TAR140 > 6 % may serve as a diagnostic cutoff.