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The analysis of 236 Italian patients with Paget's bone disease showed higher clinical severity and greater frequency of neoplastic degeneration among patients who live or descend from individuals living in the Campania region (southern Italy). A prevalent involvement of the spine and the skull, the sites preferentially involved in giant cell tumors complicating Paget's disease, was also shown in familial cases from this geographical region. Introduction: The Campania region in southern Italy has been recently indicated as a high prevalence area for Paget's disease of bone (PDB), and most pagetic families with multiple occurrence of neoplasms in affected members were from this geographical region. Materials and Methods: We evaluated the PDB epidemiological characteristics in 125 patients from Campania in comparison with 111 patients from other Italian regions. Twenty-three patients from Campania and 26 patients from other Italian areas had at least one first-degree relative affected by PDB (familial cases). The remaining patients made up the sporadic cases. Results: Among subjects from Campania, the patients in the familial group tended to come from larger families and showed at diagnosis higher serum total alkaline phosphatase, larger extension of disease, and earlier mean age with respect to patients with PDB of the sporadic group. The skull, spine, and humerus were the sites preferentially involved in the familial cases. In contrast, no such differences were observed between familial and sporadic PDB cases among patients from the other geographical areas, except for a lower age at diagnosis. An increased PDB clinical severity was finally observed in the PDB cohort from Campania in comparison with patients from other Italian regions. Neoplastic degeneration of pagetic bones (osteosarcoma and giant cell tumor) was exclusively observed in patients with polyostotic PDB from Campania. Conclusions: We showed a higher clinical severity of PDB with occurrence of neoplastic degeneration in the high prevalence area of Campania, with its maximum expression in cases with familial disease. This peculiar pattern might be traced to genetic predisposition and/or to the abnormal impact of a still undefined environmental trigger.

Viene descritto un metodo di analisi del DNA che permette di stabilire il grado di ibridazione col maiale

Context:The incidence of type 1 diabetes has been increasing over time.Objective:We estimated the genetic and environmental components of type 1 diabetes susceptibility in a twin cohort of recent-onset cases to explore the sources of changing disease epidemiology.Design:We linked the population-based Italian Twin Registry with 14803 type 1 diabetes records from 36 pediatric diabetes care centers throughout Italy, except Sardinia, and identified 173 diabetic twins. Patients were positive for at least one autoantibody to islet cell, glutamate decarboxylase, tyrosine phosphatase, insulin, or zinc transporter 8 and were insulin dependent since their diagnosis. Zygosity was determined by DNA genotyping or by questionnaire.Outcome Measures:We estimated proband-wise concordance, cotwin recurrence risk with Kaplan-Meier method, and genetic and environmental proportions of susceptibility variance by structural equation models.Results:We recruited 104 diabetic twins (53 males) from 88 pairs (34 monozygotic, 54 dizygotic) and one triplet. The mean age at diagnosis was 8.1 yr (range 1.1-20.5 yr), and the median year of diagnosis was 2002. Proband-wise concordances were 45.5 and 16.4% in monozygotic and dizygotic pairs (P = 0.01). Recurrence risks in monozygotic and dizygotic cotwins were 37 and 12% after 10 yr from the proband's diagnosis (P = 0.005). Genetic contribution to type 1 diabetes susceptibility was 40% (95% confidence interval 8-78), and the shared and individual-specific environmental components were 51% (14-77) and 9% (4-19), respectively.Conclusions:In addition to the moderate genetic effects on type 1 diabetes susceptibility, our results draw attention to the substantial shared environmental effects, suggesting that exposures in fetal or early postnatal life may contribute to the increasing incidence of the disease.

Background: Constitutional delay of growth and puberty (CDGP) is a frequent cause of short stature in childhood. Controversial results have been reported on the full achievement of these patients of their target height. Patients and methods: The final adult height of 20 patients with CDGP (11 male and 9 female), who did not received hormonal treatment, was compared with their target height and with the predicted adult height, by the Bayley-Pinneau method obtained before the onset of puberty. Results: A spontaneous improvement of the stature from pre-puberty to adulthood was observed in all patients (from -2.9 +/- 0.7 SDS to -1.3 +/- 0.6 SDS in male and from -2.6 +/- 0.6 SDS to -0.9 +/- 0.3 SDS in female; P < 0.001). Adult height in male (166.4 +/- 4.1 cm) at the mean age of 21 years was very close to the target height (165.7 +/- 3.9 cm) and to the predicted adult height (167.3 +/- 3.1 cm). Also in female, final height (156.6 +/- 2.0 cm) did not differ from target height (153.3 +/- 4.2 cm) and from predicted adult height (155.6 +/- 2.3 cm). Conclusions: In our experience, patients with CDGP reach their predicted adult height and achieve their genetic potential without medical treatment.

Background. - Cases of diabetes mellitus associated with Turner syndrome are non-insulin-dependent. We report a case of insulin-dependent diabetes mellitus (IDDM) with Turner syndrome. Case report. - An 11 year-old girl with Turner syndrome was investigated for glucose tolerance that was normal with glycosylated hemoglobin at 5.1%. The patient was then given growth hormone plus oxandrolone until the age of 15 yr 3 mo; estrogen replacement was initiated at 15 yr 9 mo and progesterone 6 months later. At the age of 16.5 yrs, the patient developed manifestations of diabetes mellitus with polyuria, polydipsia, weight loss. Blood glucose concentration was 415 mg/dl with ketoacidosis. She was given insulin; at that time, blood insulin level was 7 mU/ml, C-peptide 0.8 ng/ml and glycosylated hemoglobin Alc 8.2%. Islet cell auto-antibodies were positive ( 1 80) and histocompatibility antigens were A1, A2, B14, B18, CW7, DR7, DR11, DQ7. After 6 months of treatment, blood insulin and C-peptide after IV glucagon were nil. There was no familial case of IDDM. Conclusions. - This case of IDDM seems to be the first reported in Turner syndrome. This IDDM could be a manifestation of autoimmunity.

The observation of a heteronuclear reverse energy pooling process is reported for the first time. The cross section for the collision processes K(5D)+Na(3S) $ o $ K(4P)+Na(3P) has been measured and compared to calculations carried out using a multicrossing Landau--Zener model.