Author pages are created from data sourced from our academic publisher partnerships and public sources.
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were… Expand
Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?
BACKGROUND As yet, no population-based prospective studies have been conducted to investigate the incidence and clinical outcome of glioblastoma (GBM) or the diffusion and impact of the current… Expand
Low Prevalence of HNF1A Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital
Maturity-onset diabetes of the young (MODY; MIM# 606391) is a genetically and clinically heterogeneous form of diabetes, accounting for 1–2% of all diabetes cases (1). MODY is characterized by mild… Expand
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson–Mendenhall syndrome (RMS). At presentation, DS… Expand
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment
Insulin gene mutations, either dominant or recessive, can cause permanent neonatal diabetes mellitus (INS/PNDM), which is defined as diabetes with onset within 6 months of birth [1, 2]. More rarely,… Expand
Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation
Hypoglycemia in childhood is very rare and can be caused by genetic mutations or insulin‐secreting neoplasms. Postprandial hypoglycemia has previously been associated with insulin receptor (INSR)… Expand
Efficacy of pindolol for treatment of vasovagal syncope.
The purpose of this study was to evaluate the efficacy, safety, and tolerance of pindolol as initial therapy for vasovagal syncope. Head-up tilt table testing (HUT) was performed on 192 patients for… Expand
Permanent diabetes during the first year of life: multiple gene screening in 54 patients
Aims/hypothesisThe aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age.MethodsWe studied 46 probands with permanent,… Expand
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
- M. Delvecchio, E. Mozzillo, +20 authors F. Barbetti
- The Journal of clinical endocrinology and…
- 1 June 2017
Context An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. Objective The aim of the present study was to establish the relative… Expand
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226‐232 mutation
Gain‐of‐function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age. Specific uncommon mutations KCNJ11give rise to a syndrome defined as… Expand