10 research outputs found
Quando l’acqua cheta... rode i timpani [When the still waters... gnaws the eardrums]
No full textL’otomastoidite va tenuta in considerazione nella diagnosi differenziale della paralisi del nervo facciale, che ne costituisce una rara complicanza, la cui incidenza stimata è dello 0,005% e la cui prognosi è eccellente con atteggiamento terapeutico conservativo
Final height and body mass index in adultsurvivors of childhood acute lymphoblastic leukemia treated withoutcranial radiotherapy: a retrospective longitudinal multicenter Italian study
No full textSHOX region mutation in Leri-Weill dischondrosteosis (LWS)
No full textBackground:LWS, a dominantly inherited skeletal dysplasia with short stature, mesomelia, and Madelung deformity, is the consequenceof haploinsufficiency of the SHOX gene caused by deletions or point mutations. Heterozygous deletions downstream this gene, involvingthe gene enhancers, have been recently demonstrated to cause LWS.Objective and hypotheses:We report the results obtained in 59 patients presenting with LWS clinical findings, analyzed both for SHOXgene and its enhancers.Methods:All samples were examined for copy number alterations within the SHOX gene and the PAR1 region by MLPA and/or bymicrosatellite analysis. All patients negative for deletion were screened for point mutations by direct sequencing of all the coding exons and the intron/exon boundaries of the gene isoform A (exon 2-6a).Results:Point mutations were detected in 5/59 families (8,4%; 2 in exon 3, 2 in exon 4 and 1 in exon 6a). The majority of mutations aremissense mutations (4 missense and 1 frameshift mutations) occurring predominantly in the homeodomain region respect to the OAR domain. In 23/59 (39%) families large deletions were found. Two (5%) involved only the SHOX enhancers region and were detected in 2 girl previously negative for SHOX mutations; one (3,9%) is an intragenic deletion involving only the 3 terminal exons, undiagnosed before use of MLPA; the remaining deletions (51%) involved the entire gene. Mutations were globally found in 47% of the families, below what was expected (reported mutation rate 55-64%). Deletions occur more frequently than point mutations (39 % vs 8,4%).Conclusions:The examination of patients previously resulted negative for SHOX alterations permitted to find the enhancers regiondeletion in 2 unrelated patients. These data underlies the necessity of re-analyze for enhancer deletions all “old” samples with an intactcoding region. Despite the characterization of this new class of mutations involving the enhancers region, the mutation rate in LWDpatients is far from 100%, suggesting the idea that other regulative elements may be involved
Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study
No full textPurpose: We examined auxological changes in growth hormone (GH)-treated children in Italy using data from the Italian cohort of the multinational observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) of pediatric patients requiring GH treatment. Methods: We studied 711 children (median baseline age 9.6 years). Diagnosis associated with short stature was as determined by the investigator. Height standard deviation score (SDS) was evaluated yearly until final or near-final height (n = 78). Adverse events were assessed in all GH-treated patients. Results: The diagnosis resulting in GH treatment was GH deficiency (GHD) in 85.5 % of patients, followed by Turner syndrome (TS 6.6 %). Median starting GH dose was higher in patients with TS (0.30 mg/kg/week) than patients with GHD (0.23 mg/kg/week). Median (interquartile range) GH treatment duration was 2.6 (0.6–3.7) years. Mean (95 % confidence interval) final height SDS gain was 2.00 (1.27–2.73) for patients with organic GHD (n = 18) and 1.19 (0.97–1.40) for patients with idiopathic GHD (n = 41), but lower for patients with TS, 0.37 (−0.03 to 0.77, n = 13). Final height SDS was >−2 for 94 % of organic GHD, 88 % of idiopathic GHD and 62 % of TS patients. Mean age at GH start was lower for organic GHD patients, and treatment duration was longer than for other groups, resulting in greater mean final height gain. GH-related adverse events occurred mainly in patients diagnosed with idiopathic GHD. Conclusions: Data from the Italian cohort of GeNeSIS showed auxological changes and safety of GH therapy consistent with results from international surveillance databases
Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics
No full textThe Italian Consensus Position Statement on Diagnosis, Treatment and Prevention of Obesity in Children and Adolescents integrates and updates the previous guidelines to deliver an evidence based approach to the disease. The following areas were reviewed: (1) obesity definition and causes of secondary obesity; (2) physical and psychosocial comorbidities; (3) treatment and care settings; (4) prevention.The main novelties deriving from the Italian experience lie in the definition, screening of the cardiometabolic and hepatic risk factors and the endorsement of a staged approach to treatment. The evidence based efficacy of behavioral intervention versus pharmacological or surgical treatments is reported. Lastly, the prevention by promoting healthful diet, physical activity, sleep pattern, and environment is strongly recommended since the intrauterine phase
The Registry for Insulin-Dependent Diabetes Mellitus in Italy (RIDI) project [Il progetto per il registro italiano del Diabete Mellito insulino-dipendente (RIDI)]
No full textInsulin-Dependent Diabetes Mellitus (IDDM) is a significant health care problem in terms of the number of persons affected. Susceptibility to develop IDDM is the result of an interplay between many different genetic and environmental factors. Various international diabetes epidemiology groups have promoted the standardization of data collection and registration to determine the incidence of diabetes. Comprehensive studies of the incidence of IDDM in Italy are few, and most studies have used local-based populations. Thus the data are difficult to interpret. In 1996, the Registry for Insulin-dependent Diabetes mellitus in Italy (RIDI) was promoted. This registry was prepared according to international guidelines and has a number of specific aims: 1) to coordinate local IDDM incidence registries; 2) to promote registration in uncovered areas; 3) to standardize data collection and registration. At the current time, various centers have adhered to the RIDI. It is hoped that the RIDI will yield important insight into the epidemiology of IDDM in Italy
The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022
No full textContext: In the last decade Sanger method of DNA sequencing has been replaced by next generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM). Objective: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) versus 2013-2022 (NGS). Methods: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM+c.SIR) of the Italian dataset. Results: Fiftyfive patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103,340 (NDM) and 1:1,240,082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, p= 0.034 vs 2003-2012). Notably, five among rare genes were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA), were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes and the individual with lipodystrophy caused by BSCL2 was started on metreleptin. Conclusions: NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and congenital SIR in Italy
Emerging effects of early environmental factors over genetic background for type 1 diabetes susceptibility: Evidence from a nationwide Italian twin study
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