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Genova, Italy

Gencpinar P.,Dokuz Eylul University | Makay B.B.,Dokuz Eylul University | Gattorno M.,UO Pediatria II | Caroli F.,Laboratorio Of Genetica Molecolare | Unsal E.,Dokuz Eylul University
Turkish Journal of Pediatrics | Year: 2012

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies. Source


Prato G.,Centro Epilessia | Baglietto M.G.,Centro Epilessia | Mancardi M.M.,Centro Epilessia | Celle M.E.,Centro Epilessia | And 4 more authors.
Bollettino - Lega Italiana contro l'Epilessia | Year: 2010

Angelman Syndrome (AS) is a neurogenetic disorder caused by multiple genetic mechanisms, all of wich affect the chromosome 15q11-q13: deletion, paternal uniparental disomy (UPD), imprinting center abnormalities (ICAs) and UBE3A mutations. The vast majority of AS patients (90% of cases) shows epilepsy during the disease course; EEG is usually characterized by rhythmic 2-3 Hz delta waves of high amplitude that are more evident upon the frontal regions and 3-4 Hz spikes and sharp wave runs posteriorly. EEG pattern can be a useful diagnostic tool. Five patients were included in this study (3 males, 2 females): median age 6.2 years (range 2y1m-14y5m). All patients underwent EEG recordings and neuroimagings (Magnetic Resonance Imaging, MRI, and Computed Tomography, CT). All patients showed developmental delay and early-onset epilepsy (median age at first seizure 22 months, range 20d-3y7m). All 5 patients showed an EEG pattern characterized by high amplitude generalized monomorphic delta-waves and generalized epileptiform discharges. With the limits given by the paucity of our sample, we didn't find significant correlation between epileptic phenotypes and genotypes, differently from the literature where a major severity of clinical picture in those with deletions has been recently described. All of our patients showed a suggestive EEG pattern; sometimes, a peculiar EEG picture in a patient with evidence of psychomotor delay may anticipate diagnosis. This is particularly important in cases with negative FISH and methilation examinations, since UBE3A molecular test may be expensive and it requires a strong clinical suspect. Implications for genetic counselling is evident. Source


Pepe A.,CNR Institute of Neuroscience | Meloni A.,CNR Institute of Neuroscience | Rossi G.,CNR Institute of Neuroscience | Cuccia L.,Ematologia Emoglobinopatie | And 16 more authors.
Journal of Cardiovascular Magnetic Resonance | Year: 2013

Background: Due to the limited data available in literature, the aim of this multi-centre study was to prospectively compare in thalassemia major (TM) patients the efficacy of combined deferiprone (DFP) and deferoxamine (DFO) regimen versus either DFP and DFO in monotherapy by cardiovascular magnetic resonance (CMR) over a follow up of 18 months. Methods. Among the first 1135 TM patients in the MIOT (Myocardial Iron Overload in Thalassemia) network, we evaluated those who had received either combined regimen (DFO + DFP, N=51) or DFP (N=39) and DFO (N=74) monotherapies between the two CMR scans. Iron overload was measured by T2* multiecho technique. Biventricular function parameters were quantitatively evaluated by cine images. Results: The percentage of patients that maintained a normal global heart T2* value was comparable between DFP+DFO versus both monotherapy groups. Among the patients with myocardial iron overload at baseline, the changes in the global heart T2* and in biventricular function were not significantly different in DFP+DFO compared with the DFP group. The improvement in the global heart T2* was significantly higher in the DFP+DFO than the DFO group, without a difference in biventricular function. Among the patients with hepatic iron at baseline, the decrease in liver iron concentration values was significantly higher with combination therapy than with either monotherapy group. Conclusions: In TM patients at the dosages used in the real world, the combined DFP+DFO regimen was more effective in removing cardiac iron than DFO, and was superior in clearing hepatic iron than either DFO or DFP monotherapy. Combined therapy did not show an additional effect on heart function over DFP. © 2013 Pepe et al; licensee BioMed Central Ltd. Source


We present the socio-economic consequences of the chronic infantile neurological cutaneous and articular syndrome (CINCA), one of the various forms of the cryopyrin-associated periodic syndrome (CAPS), through the analysis of the 18 years-long story of one patient. We interviewed the patient and his mother and collected clinical documentation to estimate his life-time costs from the perspectives of the healthcare system and society. Total societal and healthcare costs amount to €178,394 and €137,272, respectively. For about 12 years the patient was not correctly diagnosed; health care costs in this period amounted to €81,280, mainly due to hospital care. After the disease was diagnosed, the pattern of costs dramatically changed with a sharp reduction of hospital costs and an increase of costs for medical therapy. This socioeconomic case-study illustrates the categories of costs that may be associated to patients with rare diseases and suggests that prompter diagnosis and adequate therapies may be also beneficial from a socio-economic perspective. © 2010 Adis Data Information BV. Source


Vari M.S.,U.O. Neuropsichiatria Infantile | Mancardi M.M.,U.O. Neuropsichiatria Infantile | Janis S.,U.O. Neuropsichiatria Infantile | Prato G.,U.O. Neuropsichiatria Infantile | And 8 more authors.
Bollettino - Lega Italiana contro l'Epilessia | Year: 2012

Alpha-thalassemia X-linked mental retardation syndrome is also known as ATRX syndrome. This condition is characterized by mental retardation, severe developmental delay, unique craniofacial features, skeletal abnormalities, characteristic mouth, facial hypotonia and genital abnormalities; seizures occur in about one third of the cases. These patients often have a form of anemia, called alpha thalassemia, which results from a defect in the production of hemoglobin. The syndrome is caused by mutations in the ATRX gene that is located on the X chromosome. Thus, males who inherit a mutation in the ATRX gene are affected with the disorder. Females who inherit a mutation in the ATRX gene are carriers of the disorder. ATRX syndrome has been recognized fairly recently and, thus, information about it is still evolving. We describe two brothers, the older with profound developmental delay evolving in spasticity, facial dysmorphism, microcephaly, genital abnormalities and alpha thalassaemia. Mutation in ATRX gene was de novo. He presented prolonged generalized cluster seizures with drug-resistant and severe neuropsychological deficits. The younger brother had psychomotor retardation and electroencephalographic anomalies. The severity of the clinical feature of older brother takes a multidisciplinary approach; considering the extreme variability of the phenotypic spectrum is essential to carefully follow the younger brother that the investigation is still ongoing. There are important implications of early diagnosis for genetic counseling. The characterization of an epileptogenic phenotype associated with mutation of ATRX on a larger series of patients could provide more support to the indication for testing, with a great help for early diagnosis. Source

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