1,354,688 research outputs found
Confirmation of Kapur-Toriello syndrome in an Italian patient
No full textWe report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello
ARENA, Soledad TORIELLO Vda. de
No full textMemorandum of the amparo (legal protection) for Soledad Toriello-Arena regarding a property. / Memorándum sobre amparo promovido por Soledad Toriello Vda. de Arena, relacionado con una propiedad
Toriello-Carey Syndrome: Delineation and Review
No full textToriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374-376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history. © 2003 Wiley-Liss, Inc
Life of Family with a Child with the Toriello-Carey Syndrome
No full textTITLE: Life of Family with a Child with the Toriello-Carey Syndrome AUTHOR: Bc. Ivana Valuchová DEPARTMENT: Department of Special Pedagogy SUPERVISOR: PhDr. Monika Mužáková, PhD. ABSTRACT: The thesis deals with the family of a child with a disease of rare Toriello-Carey syndrome. This is an isolated case of this disease in Europe. The main objective of the thesis is to process of complex information relating to disease of Toriello-Carey syndrome and to determine impacts of the syndrome on the quality of life of individuals and their families. The thesis is divided to theoretical and empirical parts. The theoretical part contains three chapters. The first theoretical chapter (Introduction) is devoted to detail syndrome- its etiology, symptoms, context, history, clinical assessment, treatment and prognosis. Other theoretical chapters describe a family with a child with disabilities and specifics of families with rare diseases. The empirical part of the thesis is focused on a research and mapping the life of the family of a child with Toriello-Carey syndrome by analyzing the documents and semi-structured interview with the parents and an active observation boy. KEYWORDS: Toriello-Carey syndrome; Child; Symptoms; Home care; Rehabilitatio
Temi civilistici nella riforma dell"autotrasporto" (responsabilità civile, limite risarcitorio, forma del contratto)
No full textIl saggio affronta alcuni temi toccati dalla riforma dell'autotrasporto di cui al dlgs 286/2005 e segnatamente i temi della responsabilità, del limite risarcitorio e della forma del contratto. Con riguardo al primo si affronta il tema della responsabilità «soggettiva», della
responsabilità nell'attività
di impresa, della responsabilità «amministrativa », della natura della responsabilità e onere della prova esonerativ, dei rapporti tra
responsabilità amministrativa e responsabilità civile in materia di trasporto stradale
a) considerazioni generali, b) applicabilità del principio di buona fede contrattuale e c) un'ipotesi di responsabilità extracontrattuale: il «vettore irregolare ».
Con riguardo al tema del limite risarcitorio il saggio analizza il problema sotto il profilo dell' ambito dì applicazione, della ratio del nuovo limite risarcitorio, della misura dei limite con particolare riguardo ai trasporti internazionali e della derogabilità del limite risarcitorio. Infine, quanto alla forma del contratto, si affronta la questione della forma del contratto di trasporto stradale:
la sentenza.
n. 7 del 2005 della Corte costituzionale e nella l. n. 286 del 2005
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH
No full textToriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly. Autosomal recessive inheritance has been hypothesized and chromosome abnormalities have been reported. The present case is a girl with agenesis of the corpus callosum, a large cleft palate, telecanthus, hypertelorism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus. A routine karyotype and fluorescence in situ hybridization subtelomeric analysis were normal. Array comparative genomic hybridization (CGH) identified a de novo 6 Mb interstitial deletion at 22q12.1 → 22q12.2. These findings support recent findings of chromosomal abnormalities in patients with the Toriello-Carey phenotype. We suggest that the clinical features described in some cases with Toriello-Carey syndrome might be due to cryptic chromosomal rearrangements and that array CGH should be considered in any case presenting with clinical features of Toriello-Carey. © 2011 Wiley-Liss, Inc.status: Publishe
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