OBJECTIVE Velocardiofacial syndrome, caused by a deletion on chromosome 22q11.2, is often accompanied by cognitive, behavioral, and psychiatric impairments. Specifically, velocardiofacial syndrome has been proposed as a disease model for a genetically mediated subtype of schizophrenia. Velocardiofacial syndrome is also known to affect brain structure. The most prominent structural findings in v...

The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. VCFS/DGS is the most common syndro...

DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. It is characterized by craniofacial anomalies, conotruncal heart disease, thymic aplasia and hypoplasia, hypocalcemia, and psychiatric illness. In this ar...

The 22q11.2 Deletion Syndrome (DiGeorge/velocardiofacial syndrome) is associated with elevated rates of psychosis, and is also characterized by severe attentional difficulties and executive dysfunction. Behavioral manifestations of this syndrome could result from haploinsufficiency of the catechol-O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study wa...

BACKGROUND Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder with a variable clinical presentation that can include cardiac, neural, immunological, and psychological issues. Previous studies have measured elevated anxiety and depression in children with 22q11.2DS. Comorbity of anxiety and depression is well established in the pediatric literature but the nature of c...

Received November 2007 Accepted March 2008 INTRODUCTION In 1964, Pfeiffer described an acrocephalosyndactyly syndrome consisting of bicoronal craniosynostosis, midface hypoplasia, broad thumbs, broad big toes, and partial and variable soft-tissue syndactyly of the hands and feet.(1) Autosomal dominant inheritance with complete penetrance is the main characteristic despite variable expressivity ...

Crouzon syndrome (CS) is an autosomal dominant disorder characterised by premature fusion of cranial sutures leading to the clinical condition of craniosynostosis, which is usually associated with skull distorsion. Over the past years several mutations in fibroblast growth factor receptor (FGFR) genes 1, 2, 3 have been identified in both syndromic and non-syndromic craniosynostosis; the patholo...

Craniosynostosis is premature fusion of one or more of the cranial sutures of an infant's skull. Several sutures may be fused, alone or in combination. The endoscopically assisted approach to correcting craniosynostosis is an alternative to more traditional techniques, such as open-strip craniectomy and the Pi procedure for infants younger than four months of age and the cranial vault remodelin...

OBJECTIVES Polysemy is a frequent issue in biomedical terminologies. In the Unified Medical Language System (UMLS), polysemous terms are either represented as several independent concepts, or clustered into a single, multiply-categorized concept. The objective of this study is to analyze polysemous concepts in the UMLS through their categorization and hierarchical relations for auditing purpose...

Results Papillary thyroid cancer was present in 96% of the mainly female patients. In the majority of patients, the results for all four salivary glands were available. After 5 years, 35 patients (16%) reported a dry mouth. Symptoms of a dry mouth were more frequent with higher RAI doses (5.55 GBq, 18%; 3.7 GBq, 7.8%). The SGS before RAI was normal in 88% of 852 salivary glands. In the remainin...