Comment on "The pros and cons of continuous glucose monitoring for patients with type 1 diabetes on multiple daily injections of insulin."

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Potentialities of Gene Therapy in Pediatric Endocrinology

Gene therapy has become an appealing therapeutic option in many pediatric fields, including endocrinology. Unlike traditional drugs based on molecules that require repeated and frequent burdensome administrations, a single genetic therapeutic intervention may allow durable and curative clinical benefits. Although this highly innovative technology holds a great promise for the treatment of monogenic diseases, its clinical applications in the field of endocrinology have been so far challenging. In this review, we will discuss various ex vivo and in vivo approaches and potential applications of gene addition and gene editing approaches for treating hyperfunctional and hypofunctional endocrine diseases due to intrinsic defects or autoimmune origin. We will focus on the recent advances in gene therapy approaches aimed at treating type 1 diabetes and monogenic forms of endocrinopathies such as growth hormone deficiency, congenital adrenal hyperplasia, diabetes insipidus, IPEX, as well as their trends and future directions

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder

WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. The prognosis is poor as most patients die prematurely with severe neurological disabilities such as bulbar dysfunction and organic brain syndrome. Mutation of the WFS1 gene is recognized as the prime mover of the disease and responsible for a dysregulated ER stress signaling, which leads to neuron and pancreatic β-cell death. There is no currently cure and no treatment that definitively arrests the progression of the disease. GLP-1 receptor agonists appear to be an efficient way to reduce elevated ER stress in vitro and in vivo, and increasing findings suggest they could be effective in delaying the progression of WFS1-SD. Here, we summarize the characteristics of GLP-1 receptor agonists and preclinical and clinical data obtained by testing them in WFS1-SD as a feasible strategy for managing this disease

Bilateral cavo-ilio-femoral thrombosis in an adolescent with transient anti-phospholipid antibodies and Factor V heterozygous mutation: a case report

We report a case of bilateral cavo-ilio-femoral thrombosis in an adolescent with factor V heterozygous mutation and transient antiphospholipid antibodies secondary Varicella infection

Long term efficacy of insulin pump therapy in preschool children with diabetes

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Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

AimsWolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. Gonadal dysfunction (GD) has been described mainly in adults with variable prevalence and referred to as a minor clinical feature. This is the first case series investigating gonadal function in a small cohort of paediatric patients affected by WFS1-SD.MethodsGonadal function was investigated in eight patients (3 male and 5 female) between 3 and 16 years of age. Seven patients have been diagnosed with classic WFS1-SD and one with non-classic WFS1-SD. Gonadotropin and sex hormone levels were monitored, as well as markers of gonadal reserve (inhibin-B and anti-Mullerian hormone). Pubertal progression was assessed according to Tanner staging.ResultsPrimary hypogonadism was diagnosed in 50% of patients (n=4), more specifically 67% (n=2) of males and 40% of females (n=2). Pubertal delay was observed in one female patient. These data confirm that gonadal dysfunction may be a frequent and underdiagnosed clinical feature in WFS1-SD.ConclusionsGD may represent a frequent and earlier than previously described feature in WFS1-SD with repercussions on morbidity and quality of life. Consequently, we suggest that GD should be included amongst clinical diagnostic criteria for WFS1-SD, as has already been proposed for urinary dysfunction. Considering the heterogeneous and elusive presentation of WFS1-SD, this clinical feature may assist in an earlier diagnosis and timely follow-up and care of treatable associated diseases (i.e. insulin and sex hormone replacement) in these young patients

A multinational prospective observational real-world cohort study

Funding Information: The authors thank the ISPAD executive committee and ISPAD JENIOUS members for their support. An abstract with partial study data was presented in June 2021 at the Virtual Advanced Technologies and Treatment for Diabetes (ATTD) conference. There was no commercial sponsor for this study. This study was partially funded by the ISPAD JDRF Fellowship Grant. KD was supported by the Slovenian National Research Agency (grant nos. J3–6798, V3–1505, and P3–0343). Funding Information: ISPAD, Grant/Award Number: ISPAD JDRF Fellowship Grant; Slovenian National Research Agency, Grant/Award Numbers: J36798, V31505, P30343 Funding information Funding Information: KD received honoraria for participation on the speakerʼs bureau of Pfizer, Novo Nordisk, and Eli Lilly. JG received speakerʼs honoraria from Eli Lilly and Sanofi, and clinical trials investigatorʼs payment from Novo Nordisk. RM received advisory board honoraria from Abbott and Novo Nordisk. JP received speakerʼs honoraria from Medtronic. JS serves as a consultant to Cecelia Health, Lexicon, Lilly, Insulet, Medtronic, and Sanofi, is a member of the advisory board for Bigfoot Biomedical, Cecelia Health, Insulet, Medtronic, and the T1D Fund and Vertex, and has had research support from the NIH, JDRF, and the Helmsley Charitable Trust. Her institution has had research support from Medtronic and Insulet. AC received speakerʼs honoraria from Medtronic, Eli Lilly, and Novo Nordisk. TB received speakerʼs honoraria from DexCom, Medtronic, Novo Nordisk, Roche, Sanofi, and Ypsomed, and advisory board honoraria from Ascensia, AstraZeneca, DexCom, Medtronic, and Sanofi.publishersversionpublishe

Continuous glucose monitoring use and glucose variability in very young children with type 1 diabetes ( VibRate ): A multinational prospective observational real‐world cohort study

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Non-Occlusive Mesenteric Ischemia in Children With Diabetic Ketoacidosis: Case Report and Review of Literature

IntroductionDespite the use of technology, recurrent diabetic ketoacidosis (DKA) prevention remains an unmet need in children and adolescents with T1D and may be accompanied by life-threatening acute complications. We present a rare case of non-occlusive mesenteric ischemia (NOMI) with overt manifestation after DKA resolution and a discussion of recent literature addressing DKA-associated NOMI epidemiology and pathogenesis in children and adolescents.Case PresentationA 13-year-old female with previously diagnosed T1D, was admitted at our emergency department with hypovolemic shock, DKA, hyperosmolar state and acute kidney injury (AKI). Mildly progressive abdominal pain persisted after DKA correction and after repeated ultrasound evaluations ultimately suspect for intestinal perforation, an intraoperative diagnosis of NOMI was made.ConclusionThe diagnosis of DKA-associated NOMI must be suspected in pediatric patients with DKA, persistent abdominal pain, and severe dehydration even after DKA resolution