- [Evaluation and treatment of hyperemesis gravidarum]M Crotti
, Ospedale B. Ramazzini di Carpi, Modena, Italy
Minerva Ginecol 53:413-9. 2001..The question as to how and when to treat the symptom is still open. The purpose of this study is to examine, through a literature review, the problems and the appropriate medical approach regarding the severe cases or hyperemesis...
- Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
Orphanet J Rare Dis 7:4. 2012....
- Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patientsMarilena Briguglio
Division of Child Neurology and Psychiatry, Dept of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
Orphanet J Rare Dis 6:36. 2011..These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech...
- Genetic investigations on 8 patients affected by ring 20 chromosome syndromeDaniela Giardino
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
BMC Med Genet 11:146. 2010..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...
- Crisponi syndrome: report of a further patientP Accorsi
Divisione di Neuropsichiatria Infantile, A O Spedali Civili di Brescia, Piazzale Spedali Civili, 25123 Brescia, Italy
Am J Med Genet A 123:183-5. 2003..The disease is often lethal in the first infancy. We describe a patient with the same unusual phenotype...
- A clinical and genetic study of 33 new cases with early-onset absence epilepsyLucio Giordano
UO Neuropsichiatria Infantile, Centro Regionale Epilessia, Spedali Civili, Brescia, Italy
Epilepsy Res 95:221-6. 2011..To investigate the electroclinical features and the outcome of patients with typical absences starting before the 3 years of life...
- Familial Ohtahara syndrome due to a novel ARX gene mutationL Giordano
Department of Child and Adolescent Neuropsychiatry, Spedali Civili, Brescia, Italy
Am J Med Genet A 152:3133-7. 2010....
- Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothersL Giordano
Division of Child Neurology, Spedali Civili di Brescia, Brescia, Italy
Am J Med Genet A 149:1511-5. 2009..No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity...
- Early onset absence epilepsy with onset in the first year of life: a multicenter cohort studyLucio Giordano
Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy
Epilepsia 54:66-9. 2013..We aimed to report the clinical and electrophysiologic features of a cohort of children with absence epilepsy starting within the first year of life...
- Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literatureG Capovilla
Department of Child Neuropsychiatry, C Poma Hospital, Mantova, Italy
J Child Neurol 16:382-6. 2001..We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case...
- Mid- and long-term outcome of extremely low birth weight (ELBW) infants: an analysis of prognostic factorsA Valcamonico
Department of Obstetrics and Gynecology, Universita di Brescia, Italy
J Matern Fetal Neonatal Med 20:465-71. 2007....
- Non-epileptic myoclonic attacks in infancy: three casesAglaia Vignoli
Epilepsy Center, San Paolo Hospital, Milan, Italy, Department of Health Sciences, University of Milan, Italy
Epileptic Disord 16:433-8. 2014..The clinical heterogeneity of non-epileptic attacks, together with the relative rarity of the condition, may make differential diagnosis with epileptic attacks very challenging. [Published with video sequences]. ..
- Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patientsLucio Giordano
Child Neuropsychiatric Unit, Civile Hospital, Brescia, Italy
Eur J Paediatr Neurol 16:636-41. 2012..Epilepsy incidence ranged from 39 to 59% in a previously reported series. No specific clinical and EEG phenotype has ever been reported to describe seizure features, electroclinical patterns, and response to therapy in PKS...
- Setleis syndrome: genetic and clinical findings in a new case with epilepsyLucio Giordano
Pediatric Neuropsychiatric Division, Spedali Civili, Brescia, Italy
Pediatr Neurol 50:389-91. 2014..Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis syndrome)...
- Celiac disease-related antibodies in Italian children with epilepsyLucio Giordano
Pediatric Neuropsychiatric Division, City Hospital of Brescia, Brescia, Italy
Pediatr Neurol 41:34-6. 2009..The prevalence of antibodies related to celiac disease was comparable to that of healthy controls. In keeping with this observation, Italian epileptic children should not be considered a group at risk for celiac disease...
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
- Hyperviscosity syndrome in hematological diseases and therapeutic apheresisP Accorsi
Department of Transfusion Medicine, Spirito Santo Civic Hospital, Pescara Italy
Int J Artif Organs 28:1032-8. 2005....