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Giardino D.,CNR Institute of Molecular Genetics | Vignoli A.,University of Milan | Ballarati L.,CNR Institute of Molecular Genetics | Recalcati M.P.,CNR Institute of Molecular Genetics | And 12 more authors.
BMC Medical Genetics | Year: 2010

Background: Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome.Methods: We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents.Results: FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the same chromosome not circularized in the "normal" cell line.Conclusions: Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome. © 2010 Giardino et al; licensee BioMed Central Ltd.

D'Argenio L.,Unita Operativa di Neuropsichiatria dellInfanzia e dellAdolescenza | Zaccagnino M.,Unita Operativa di Neuropsichiatria dellInfanzia e dellAdolescenza | Donati C.,ASL Brescia | Perini A.,Unita Operativa di Neuropsichiatria dellInfanzia e dellAdolescenza | Fazzi E.,Unita Operativa di Neuropsichiatria dellInfanzia e dellAdolescenza
Minerva Pediatrica | Year: 2013

Aim. The aim of this study was to present a hospital intensive care program for patients affected by a severe eating disorders, with a significant loss of weight (BMI<15 and weight less than 25° centile), severe medical complications (orthostatic hypotension, bradycardia <40 bpm or tachycardia >110 bpm or inability to sustain core body temperature), abnormal laboratory data, especially electrolyte imbalance and refusal to take food and fluids. Methods. In our study we reported 2 year follow-up of 16 patients treated with the hospital intensive care program between 2007 and 2008 in our department. Result. The proposed program was proved an efficient method in a critical phase of the alimentary behavior disorders. It was possible for all the patients to avoid alternative feeding techniques (enteral or parenteral) and to obtain a correct alimentation with a satisfactory improvement of clinical conditions. Eight patients (50%) fully recovered. 5 patients (31.25%) had a significant improvement reaching a BMI>18.5 and one of them had a regular menstrual cycle, too. However in this group of patients a strict modality to alimentation and concern about weight and physical appearance remain. In 3 patients (18.5%) the BMI is still low and amenorrhea persists. Conclusions. The hospital intensive care program, inspired by the cognitive-behavioral model, through a food rehabilitation and a psychotherapeutic and psychoeducational help, lets the patients and their family understand and modify the dysfunctional patterns, experimenting a right modality to approach alimentation, with a satisfactory improvement in clinical conditions.

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