A5025998769- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neurofibromatosis and Schwannoma Cases
- Sexual Differentiation and Disorders
- Neuroblastoma Research and Treatments
- Diabetes and associated disorders
- Lipid metabolism and disorders
- Molecular Biology Techniques and Applications
- Forensic and Genetic Research
- Congenital heart defects research
- Bone Tumor Diagnosis and Treatments
- Bone health and osteoporosis research
- Herpesvirus Infections and Treatments
- Meningioma and schwannoma management
- Gender Studies in Language
- Cardiovascular Syncope and Autonomic Disorders
- Glioma Diagnosis and Treatment
- Neuropeptides and Animal Physiology
- Pancreatic function and diabetes
- Birth, Development, and Health
- Education and Cultural Studies
- Soft tissue tumor case studies
- Pharmacological Effects and Toxicity Studies
- Genetic Syndromes and Imprinting
- Galectins and Cancer Biology
Ospedale Regina Margherita
2018-2023
University of Turin
1994-2021
Poder Judicial de la Ciudad de Buenos Aires
2018-2020
University of Milan
1990-1997
National Agricultural Technology Institute
1995-1996
Instituto Nacional de Tecnologia
1996
University of Cagliari
1990
In 1990, the Italian Study Group for Turner's Syndrome (ISGTS) undertook a nationwide survey, involving retrospective collection of cross‐sectional data and longitudinal growth profiles 772 girls with syndrome born between 1950 1990. The study was carried out in 29 pediatric endocrinological centers. this first report, familial characteristics neonatal Turner are described, compared to those general population, related postnatal somatic development. Furthermore, charts birth weight standards...
Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications gene, heterozygous deletions upstream downstream intact involving conserved non‐coding cis‐regulatory DNA elements that show enhancer activity. Recently, two element duplications, one and downstream, were reported in patients referred with idiopathic short stature. To further evaluate role these...
Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and disorders NF1-related OPGs are scarce.The aim the study was determine dysfunctions patients NF1 investigate predictive factors before oncological treatment.Multicenter retrospective study.Records were reviewed for 116 (64 females, 52 males) followed at 4 Italian centers.We evaluated function brain imaging time OPG diagnosis...
<b><i>Background/Aims:</i></b> Mutations of the short stature homeobox-containing <i>(SHOX)</i> gene on pseudoautosomal region sex chromosomes cause stature. GH treatment has been recently proposed to improve height in patients with SHOX deficiency. The aim this study was evaluate secretion and analyze growth safety recombinant human (rhGH) therapy children adolescents <b><i>Patients Design:</i></b> We studied 16 (10 females; 9.7 ±...
Objectives Growth impairment is a common manifestation in Noonan syndrome (NS). Recombinant human GH (rhGH) treatment has been shown to increase growth and adult height (AH) few studies. We aimed evaluate the trajectory towards AH, effects of rhGH large cohort NS children. Methods Retrospective, multicenter, study including subjects with genetic diagnosis NS. A total 228 patients, 154 PTPN11 mutations, 94 who reached were recruited. Auxological data collected at 2, 5, 10 years, pubertal...
Abstract SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% idiopathic short stature (ISS). Deletions removing the entire gene or enhancers point mutations in coding region represent a well-established cause haploinsufficiency. During diagnostic genetic testing on ISS/LWD patients, addition to classic defects, five 5′UTR variants (c.-58G > T, c.-55C c.-51G A, c.-19G c.-9del), were detected whose pathogenetic role was unclear thus classified as VUS...
Twenty-two girls affected by sexual precocity with impaired final height prognosis were followed until they achieved height. Twelve of them treated an intranasal (D-Ser6)-gonadotrophin-releasing hormone (GnRH) analogue (buserelin) administered at a mean dose 25 μg/kg/day (range 20-32) for period 14 months 8-18). Ten refused treatment. Mean the was 157.3 ± 8.2 cm, significantly (p = 0.03) higher than 149.7 5.5 cm untreated patients. Treated surpassed midparental (+1.7 cm) while reached lower...
SUMMARY We have evaluated the effect of administration galanin (Gal), a newly identified hypothalamic peptide, on baseline and GHRH‐induced GH rise in five obese children seven controls. The response to GHRH (hpGRF(1–29), 1 μg/kg i. v.), Gal (15 μg/kg/h for h), both as maximum peak integrated area under curve (AUC), was significantly lower than Simultaneous plus increased all subjects, so that their mean levels AUC after were similar those control GHRH. Also, caused significant augmentation...
Magnetic resonance imaging was performed in 23 patients with short stature (7 had multiple pituitary hormone defect, 11 isolated growth deficiency and 5 normal variant stature) to investigate if there is a relation between magnetic findings results of endocrine tests. or serious (growth < 3 μg/l) revealed an interrupted stalk ectopic neurohypophysis mass. In less > stature, the technique hypoplastic hypophysis. appears be useful second‐level diagnostic tool defining type alteration...
Preterm infant growth is a major health indicator and needs to be monitored with an appropriate curve achieve the best developmental potential while avoiding excessive caloric intake that linked metabolic syndrome hypertension later in life. New international standards for size at birth postnatal preterm infants are available need implementation clinical practice. A prospective, single center observational study was conducted evaluate in-hospital long-term of 80 mean gestational age 33.3 ±...
Skeletal maturation is considered a reliable variable in evaluating the 'tempo' of growth. It important diagnosis endocrinological diseases, chronic hormonal therapy follow-up and computing height prediction for prognostic therapeutic purposes. also used when chronological age not available minors without known birth dates. There are different methods to evaluate skeletal prediction. The Tanner-Whitehouse (TW) method 2 (TW2) has been be most useful so far, recently updated with modified...
Abstract Background SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent most frequent cause ‐haploinsufficiency. During diagnostic workflow deletions/duplications have been identified downstream not including any these CNEs. Methods Fine tiling aCGH and breakpoint PCR were used to characterize critical interval search for novel alterations in a cohort selected patients. Results Screening 252 controls provided evidence...
Bone age assessments were related to auxological variables in 407 Italian boys, between 7 and 12 years of age, order elucidate the factors that affect rate skeletal maturation examine possibility using measures evaluate individual patients. Using radius—ulna—short bones (RUS) method assessment, bone velocity was greater boys than for UK reference standards, although there considerable interindividual dispersion around mean. height poorly correlated, little correlation pubertal maturation....
Abstract Background Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if association between all these peculiar features neurofibromatosis type 1 have been described, it has not yet clarified whether represents a distinct entity or can be regarded as subtype. Case presentation The patient here described young boy, who fulfilled clinical diagnostic criteria for both syndromes. He had complex history...
In scientific papers, skeletal maturation-expressed as bone maturity scores or age-is often used a quantifiable variable similar to height weight. This paper discusses whether this approach is appropriate. The questions addressed are maturation can be measured on quantitative scale, its use appropriate in computing, and what the 'numbers' represent. Reference will made mainly Tanner-Whitehouse method, which, opinion of authors, has been most reliable method assessment date. Many remarks may...
Abstract Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. aim this retrospective study was to evaluate auxological radiological indicators that could predictive SHOX-D Methods Molecular analysis the gene performed 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables radiographs hand, wrist forearm were evaluated. Results mutations (88%...
<b><i>Background/Aim:</i></b> Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that in case short stature type-1 diabetes (T1DM). <b><i>Methods:</i></b> A questionnaire was sent if a patient identified, data on management were collected. <b><i>Results:</i></b> Data from 42 centers (84%) obtained. Of...