A5084547812- Diabetes Management and Research
- Diabetes and associated disorders
- Pancreatic function and diabetes
- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Cancer, Hypoxia, and Metabolism
- Retinoids in leukemia and cellular processes
- Respiratory viral infections research
- Kawasaki Disease and Coronary Complications
- Diabetes Treatment and Management
- Renal and related cancers
- Pituitary Gland Disorders and Treatments
- Neonatal Respiratory Health Research
- Cancer, Lipids, and Metabolism
- Hypothalamic control of reproductive hormones
- Blood Coagulation and Thrombosis Mechanisms
- Prenatal Screening and Diagnostics
- Congenital Diaphragmatic Hernia Studies
- Streptococcal Infections and Treatments
- Urticaria and Related Conditions
- RNA modifications and cancer
- Meningioma and schwannoma management
- Ion Transport and Channel Regulation
- IL-33, ST2, and ILC Pathways
- Childhood Cancer Survivors' Quality of Life
University of Genoa
2019-2024
Istituto Giannina Gaslini
2019-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2024
University of Florence
2014-2018
Meyer Children's Hospital
2018
The 2019 AACE guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 µg/L and ≤1 in the diagnosis permanent GH deficiency (GHD) during transition phase.
Two vaccines against SARS-CoV-2 are approved by the World Health Organization (WHO) for minors aged 12 years and over. Currently, people with both type 1 diabetes (T1D) 2 (T2D) prioritized vaccination.
Abstract Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it caused by variety disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis challenging requires detailed medical history, physical examination, biochemical approach, imaging studies, and, some cases, histological confirmation. Magnetic resonance gold standard method for evaluating congenital or...
Advanced hybrid closed loop (AHCL) systems are the newest tool to improve metabolic control in type 1 diabetes (T1D). Long-term glycemic of children and adolescents with T1D switching MiniMed™ 780G a real clinical setting was evaluated.Time range (TIR) different glucose ranges, variability indexes, HbA1c basal-bolus insulin distribution were evaluated 44 subjects (mean age 14.2 ± 4.0 years, 22 males) during manual mode period, first 14 days (A14d) month after auto-mode activation (A1M), 3...
Since the COVID-19 outbreak, number of girls with suspected precocious puberty has increased.To compare incidence idiopathic central (ICPP) during that previous 4 years.Anthropometric, biochemical, and radiological parameters were collected between January 2016 June 2021 from 133 who met Rapidly Progressive ICPP criteria (RP-ICPP).We found a higher RP-ICPP March 2020 (group 2) compared through 1) (53.5% vs 41.1%); showed highest annual (P < .05). Group 1 group 2 differed in age at diagnosis...
Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment.To evaluate neurocognitive function and white matter microstructure in children permanent or transient CH to correlate these findings disease severity.A retrospective prospective observational study was conducted 39 CH, healthy children. Cognitive assessed by Wechsler Intelligence Scale, Fourth Edition, other tests; the investigated 3 Tesla magnetic resonance imaging.Children have lower cognitive scores...
It is known that patients with diabetes can develop limited joint mobility (LJM) and this depend on the metabolic control maintained duration of disease. The aims study were to verify presence ankle (AJM) deficits in both plantar dorsiflexion young type 1 diabetic (T1D) considering also possible role sport practiced as a further factor, able modify AJM.AJM was evaluated by an inclinometer 82 T1D (M/F: 48/34), mean age 12.9 ± 2.6 years, body mass index (BMI) 19.7 3.6 kg/m2 , 5.6 3.3 HbA1c 7.5...
Abstract Context The etiology of central precocious puberty (CPP) includes a spectrum conditions. Girls younger than age 6 years with CPP should undergo cranial magnetic resonance imaging (MRI), but it remains controversial whether all girls who develop between the ages and 8 require neuroimaging examination. Objective To investigate frequency brain MRI abnormalities in diagnosed relationship maternal factors, their at presentation, clinical signs symptoms, hormonal profiles, findings....
Context Data on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methods Retrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) maternal uniparental disomy chromosome 7 (mUPD7, n=13)] 21 small for gestational age (SGA). Clinical (thelarche females; testis volume ≥ 4 ml males; pubarche), BMI SD trend from the 5 to 9 years time puberty, biochemical parameters puberty onset [Luteinizing hormone (LH),...
Dupilumab is a biologic, acting on IL-4 and IL-13 pathways. has pediatric indication for treating severe asthma atopic dermatitis. We report case concerning paucisymptomatic, transient, self-resolving hyperthyroidism. The updated literature includes the of an adult patient who reported with hyperthyroidism, which was transient self-resolving. Despite that these cases were self-resolving, we would suggest thyroid function assessment could be included in follow-up patients treated Dupilumab....
Evidence about the impact of advanced hybrid closed loop (AHCL) on body mass index (BMI) and eating habits in children with type 1 diabetes (T1D) is lacking. This real-world study aimed at evaluating glycemic control, BMI, meals basal/bolus distribution young subjects T1D treated by AHCL. Glycemic metrics, HbA1c, distribution, meals/day, total daily dose (TDD), carbohydrates/kg (CHO/kg) have been evaluated 83 subjects, aged 13 ± 4.5 years, manual mode, 3 6 months after auto-mode. Time range...
We describe the case of a newborn presenting with multicystic encephalomalacy, hydrocephalus and bilateral hemovitreous. An underlying coagulation disorder was suspected laboratory tests revealed severe protein C deficiency. At 25 days life, after appearance purpura fulminans, replacement therapy intravenous concentrate (Ceprotin; Baxter, Vienna, Austria) started.Due to difficulties in getting peripheral venous access repeated loss access, continuous subcutaneous infusion started an insulin...
BRAF inhibitors, in recent years, have played a central role the disease control of unresectable BRAF-mutated pediatric low-grade gliomas (LGGs). The aim study was to investigate acute and long-term effects vemurafenib on lipid metabolism children treated for an LGG. In our cohort, with (n = 6) exhibited alterations few weeks after starting, as demonstrated 1 month 4) by high plasma levels total cholesterol (TC 221.5 ± 42.1 mg/dL), triglycerides (TG 107.8 44.4 low-density lipoprotein (LDL...
Abstract Context There is little information on cognitive function in Silver–Russell syndrome (SRS), and no neuroimaging studies are available so far. Objective To assess brain volumes patients with SRS. Design/Setting Wechsler Intelligence Scale magnetic resonance a 3-Tesla scanner Voxel-based morphometry analysis were performed between 2016 2018 single tertiary university center. Partecipants 38 white subjects clinical diagnosis of SRS confirmed by molecular analysis: 30 these (mean age...
<h3>Background</h3> Kawasaki disease (KD) is an acute febrile systemic vasculitisin childhood that associated with inflammatory cytokines, in which the vascular inflammation results damage to coronary arteries. Vitamin D plays important role regulation of immunity, and several studies demonstrate its active form 25(OH)VIT exhibits anti-inflammatory activities modulate response vasculitis. <h3>Objectives</h3> 1. To assess serum levels 25(OH)VITD children KD, 2. evaluate possible relationship...
The aim of the study was to evaluate satisfaction use telemedicine and telenursing in children young adults with Type 1 Diabetes (T1D) using Advanced Hybrid Closed Loop systems (AHCL) a focus on role connectivity, data download ease technical steps set sensor change procedures.An online anonymous survey administered AHCL users. questionnaire consisted five Clusters: Cluster A-B-C included questions related general telemedicine, D focused E F perception execution like changing infusion...
Rapid-onset obesity with central hypoventilation, hypothalamic dysfunction, and autonomic dysregulation neural crest tumors (ROHHAD-NET) syndrome pathophysiology remains elusive. Acquired neuroimmunological dysfunction has been proposed as a possible pathogenetic pathway.The aim of our study was to characterize lymphocyte subpopulations subsets in peripheral blood (PB) evaluate panel proinflammatory cytokines/chemokines ROHHAD(NET) patients vs controls.We included 11 patients, 7 ROHHAD 4...
Abstract Neonatal diabetes mellitus (NDM) is a monogenic form of occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel key regulator insulin secretion. Gain-of-function mutations in genes encoding Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits cause neonatal diabetes. patient was...
SilverRussell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss methylation (LOM) maternal uniparental disomy chromosome 7 (mUPD7). Almost all patients have history intrauterine retardation (IUGR) may be born small for gestational age (SGA). Children show typical features, including relative macrocephaly, prominent forehead, body asymmetry, feeding difficulties cognitive delay (1)(2). LOM high IGF1...