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In the post-COVID-19 era, telehealth experience and knowledge must be structured to deliver high-quality care. Type 1 diabetes is a chronic disease that lends itself to being a model for telehealth diffusion, especially in the pediatric setting where the use of cloud-connected technologies is widespread. Here, we present “how to set the tone” and manage a telemedicine session according to our experiences and those reported in the literature, according to the health professional perspective. A practical workflow on how healthcare professionals can structure a virtual diabetes clinic is reported, as well as critical issues related to limits in physical examination, communication registers, relationships, and visit settings. A proactive virtual visit model could be feasible, stratifying patients according to continuous glucose monitoring metrics, and personalized interventions can be provided to each patient. Analysis of benefits and hassles due to telehealth for each patient has to be considered, as well as their personal perspective, expectations, and reported barriers, mainly related to connection issues and digital literacy.

The worldwide rising incidence of type 1 diabetes (T1D) makes further deteriorates this situation (5). [...]creating solutions that address acute and long-term complications in various contexts is crucial. The study byLeutheuser et al.investigates the prediction of nocturnal hypoglycemia in children with type 1 diabetes following daytime physical activity using machine learning models applied to continuous glucose monitoring (CGM) and physiological data. Despite the retrospective design and small sample size, the findings reinforce the role of automated insulin delivery in achieving optimal glycemic control in very young children with T1D, advocating for its expanded use and further validation in larger cohorts (López-López et al.). Conflict of interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Background Failure to thrive is a common reason for referral to paediatric services. Malnutrition or inadequate caloric intake is the most common cause, while organic form is unlikely in children who are asymptomatic and healthy on examination. By this study we evaluate the application of a cost-effective flow chart that helps the clinician in a hospital setting discern accurately organic and non-organic failure to thrive. Methods Conduct a prospective single-center study in children up to 2 years of age with growth faltering. The pediatricians used a practical flow chart, took the medical history, created a growth chart, performed clinical examinations, and requested blood test and consultations in a step by step approach. Results Among the 74 subjects included in the study, the diagnosis of organic failure to thrive was reached by 42%. Gastrointestinal and genetic diagnoses were the most frequent. Patients with organic failure to thrive had significantly lower gestational age and birth weight. Age at diagnosis and Z-score weight were lower in organic than in non-organic forms. Most patients with non-organic forms (88%) did not undergo in-depth blood test or specialist advice. Conclusion The flow chart we presented was accurate for diagnosing children with failure to thrive in a hospital setting and distinct organic and non-organic forms. It was cost-effective to avoid unnecessary blood test or consultations in most non-organic diagnoses.

BackgroundSevere bradycardia is an indication supporting hospitalization in adolescents with eating disorders. Some adolescents with anorexia nervosa (AN) and significant weight loss present with a normal pulse rate at admission, whereas others have severe bradycardia, suggesting that total weight loss is not the most important determinant of bradycardia. The aims of this study were to define the prevalence of severe bradycardia as the cause for hospital admission in adolescents with AN, to evaluate correlations between known determinants of severe bradycardia and pulse rate at admission, and to evaluate the average time required to recover from severe bradycardia after re-feeding.MethodsNinety-nine hospitalized patients with AN were enrolled. Weight loss history, anthropometric, laboratory, and electrocardiogram data were collected at admission to and at discharge from hospital. Multivariate analysis was performed to detect the most important determinants of severe bradycardia.ResultsForty-eight percent of the AN patient admissions were due to severe bradycardia (AN-B+ group). Patients in this group had a higher maximum lifetime weight (P = 0.0045), greater premorbid weight loss (P = 0.0011), and more rapid weight loss (P = 0.0001). Multivariate analysis showed that recent weight loss is an independent predictor of bradycardia at hospital admission (R2: 0.35, P = 0.0001). Severe bradycardia normalized after minimal weight gain of 0.25 ± 0.18 kg/day for 3–10 days.ConclusionsThis study confirms that recent weight loss is probably the most important determinant of severe bradycardia in adolescents with AN.

Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population. HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, OMIM #147920). Both the disease-associated genes, KMD6A and KMT2D, modulate the chromatin dynamic. As such, KS is considered to be the best characterized pediatric chromatinopathy. However, the exact pathogenetic mechanisms leading to HH in this syndrome remain still unclear. We selected on the electronic database PubMed all articles describing or hypothesizing the mechanisms underlying the dysregulated insulin secretion in KS. The impact on the gene expression due to the KDM6A or KMT2D function loss may lead to a deregulated pancreatic β-cell differentiation during embryogenesis. Moreover, both KMT2D gene and KDM6A gene are implicated in promoting the transcription of essential pancreatic β-cell genes and in regulating the metabolic pathways instrumental for insulin release. Somatic KMT2D or KDM6A mutations have also been described in several tumor types, including insulinoma, and have been associated with metabolic pathways promoting pancreatic cell proliferation. The impact of pathogenic variants in KDM6A and KDM2D genes on β-cell insulin release remains to be fully clarified. Understanding this phenomenon may provide valuable insight into the physiological mechanisms of insulin release and into the pathological cascade causing hyperinsulinism in KS. The identification of these molecular targets may open new therapeutic opportunities based on epigenetic modifiers.

Vitamin B12 (Vit-B12) deficiency is a rare and treatable cause of failure to thrive and delayed development in infants who are exclusively breastfed. Apart from genetic causes, it can be related to a malabsorption syndrome or when the mother follows a strict vegetarian or vegan diet, causing a low hepatic storage of Vit-B12 in the infant at birth. As the neurological symptoms are nonspecific, a brain magnetic resonance imaging (MRI) exam is usually performed to rule out primary causes of neurodevelopmental delay. Findings related to brain atrophy are usually observed. A favorable response is achieved with Vit-B12 therapy, and neurological symptoms dramatically improve within a few days after the treatment. We present the case of an infant with severe Vit-B12 deficiency, exclusively breastfed by his young vegan mother, and whose clinical symptoms together with MRI findings improved after treatment. Brain atrophy recovery after Vit-B12 therapy has been seldom documented.

Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an inborn error affecting fatty acid β-oxidation (FAO). Differently than other FAO deficiencies, LCHADD patients may develop progressive retinopathy and peripheral neuropathy. The pathogenesis of retinopathy is not completely understood, and the role of dietary interventions in preventing the development of retinopathy remains uncertain. We examined the literature to assess the impact of the dietary management of LCHADD patients on retinopathy prevention. Methods: Our systematic search included studies published in the last 20 years according to PRISMA guidelines. The aims of the review were to analyze the correlation between retinopathy and the following: (1) age at first metabolic decompensation and/or at the start of the dietary treatment, (2) chronic dietary treatment, (3) emergency regimens, (4) other nutritional supplements. The protocol was registered in PROSPERO, and evidence was assessed using the GRADE system. Results: Seven full papers were identified according to search criteria, with only four including meaningful data. Early presentation of the disease, acute neonatal symptoms, and a suboptimal chronic treatment control were associated with more aggressive retinopathy and a poorer sight outcome. The number of metabolic decompensations and/or hospitalizations were also positively correlated with vision loss. Chronic fat modulation in the diet had less impact than emergency treatments. The role of other nutritional supplements was not well defined. Conclusions: Newborn screening may improve retinal outcomes. Nevertheless, early treatment adopting the current LCHADD therapeutic regimen can often only delay the onset of retinopathy. Clearly, our current treatment strategies are not adequate and retina-specific treatments are needed. The optimal composition of the diet, the role of fasting limitation, and the benefits of some nutritional supplements deserve further investigations.

Background During the COVID-19 pandemic, accesses to pediatric health care services decreased, as well as the consumption of traditional drugs, while the median cost per patient at the emergency department slightly increased and the cost of pediatric COVID-19 admissions to the pediatric ward too. Overall spending of a secondary level Pediatric Unit in the last two years has not been previously reported. Methods This is a retrospective study conducted by the Pediatric Unit of S. Chiara Hospital of Trento, North of Italy. We collected data on consumption and spending before and during the COVID-19 pandemic (between January 2018 and December 2022). Results The total spending ranged from 2.141.220 to 2.483.931 euros between 2018 and 2022. COVID-19 spending accounted only for 5–8% of the overall budget, while two macro-areas of spending were identified: (i) biologic drugs for inherited metabolic diseases (IMDs), that impacted for 35.4–41.3%, and (ii) technology devices for type 1 diabetes (T1D), that accounted for 41.6–32.8% of the overall budget, in 2021 and 2022, respectively. Analysis of costs along with the different health care services revealed that: (i) the spending for COVID-19 antigen tests and personal protective equipment had a major impact on the Emergency room budget (from 54 to 68% in the two years); (ii) biological drugs accounted mainly on the Pediatric Ward (for 57%), Day Hospital (for 74%) and rare disease center budget (for 95% of the spending); (iii) the cost for T1D devices was mainly due to continuous glucose monitoring, and impacted for the 97% of the outpatient clinic budget. Conclusions The main impact on the budget was not due to COVID-19 pandemic related costs, but to the costs for biologic drugs and T1D devices. Therefore, cost savings could be mainly achieved through generic and biosimilars introduction and with inter-regionals calls for technology devices. We emphasize how the control of spending in pediatric hospital care has probably moved from the bedside (savings on traditional drugs as antibiotics) to the bench of national or inter-regional round tables, to obtain discounts on the costs of biologic drugs and medical devices. Here we provide for the first-time in literature, data for bench-marking between secondary level Pediatric Units before and during the COVID-19 pandemic.

The Special Issue “Diabetes Mellitus: Current Research and Future Perspectives” is focused on the importance of customized medicine in monogenic diabetes of the young (MODY) and type 2 diabetes (T2D) [...]

Eliglustat (Cerdelga®) is a potent and specific inhibitor of the enzyme glucosylceramide synthase and serves as a substrate reduction therapy for adult patients with Gaucher disease type 1 (GD1). It prevents the accumulation of several lipids, including glucosylsphingosine (also known as Lyso-Gb1). In addition to its role in diagnostics, Lyso-Gb1 has been proven to be a reliable biomarker for assessing disease severity and monitoring treatment efficacy. We present the case of an obese, splenectomized GD1 patient on long-term enzyme replacement therapy (ERT) who reported worsening fatigue and showed a progressive increase in Lyso-Gb1 levels after switching treatment from ERT to eliglustat. We provide a discussion of the potential clinical factors contributing to this outcome. As seen with ERT, Lyso-Gb1 levels during eliglustat treatment appear to respond earlier than other biochemical and clinical parameters. An increase in Lyso-Gb1 may signal early compromised clinical efficacy of the treatment. Data on biochemical and clinical outcomes in splenectomized or obese patients treated with eliglustat are limited, and the role of specific genotypes requires further clarification. The variability in responses to eliglustat highlights the complexity of GD and underscores the need for personalized approaches to treatment and monitoring.