[Registry of genetic and malformative diseases in the province of Macerata]. / Registro delle malattie genetiche e malformative della provincia di Macerata.

OBJECTIVES: The aim of this epidemiological research is to evaluate the prevalence of genetic diseases and malformative syndromes in paediatric population living in the Macerata county. MATERIAL AND METHODS: All the data were collected through a careful analysis of a specific questionnaire sent to all the family paediatricians. RESULTS: 23,379 children living in Macerata county, aged 0 to 9 years, were evaluated (93.8% of all this paediatric population). Among those were found N 400 cases of genetic diseases and malformative syndromes: Malformations Tot.N. 255 cases (63.3% of the reported cases); Malformative Syndromes Tot. N. 55 cases (27.8% of the reported cases); Endocrinology and Metabolic Diseases Tot. N. 41 cases (10.3% of the reported cases); Osteochondrodysplasia Tot. N. 22 cases (5.7% of the reported cases); Other Tot. N. 28 cases (7.0% of the reported cases); Male population was found more affected than female: M/F ratio = 1.4. The analysis of the data showed an increasing trend in detecting these pathological conditions, consistent with the increase in geographic altitude (3 areas considered): 0-100 meter = 0.88%; 100-600 m.a.s. = 1.34%; over 600 m.a.s. = 1.88%. CONCLUSION: The knowledge of the number of children affected by genetic and malformative diseases in the Macerata county is relevant in order to establish a Genetic Service with the aim to better support the medical assistance of these patients and counselling service for the families.

[The prevalence of celiac disease in children with short stature in the absence of other symptomatology]. / Prevalenza della malattia celiaca in bambini con bassa statura in assenza di altra sintomatologia.

Using an enzyme-linked immunosorbent assay (ELISA), the authors studied the sera of 116 patients with short stature of undetermined cause and no gastrointestinal symptoms, for the levels of IgG and IgA antigliadin antibodies (AGA). AGA of IgG and IgA isotypes were positive in 8 patients (group 1); only AGA IgG were positive in 7 patients (group 2). Both groups with positive AGA had subsequent duodenal biopsy that showed a villous atrophy in all children in group 1 and in two in group 2. These patients showed a significant acceleration in height velocity after the introduction of a gluten-free diet.