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Record 1Serum NGF levels in children and adolescents with either Williams syndrome or Down syndrome. Calamandrei G; Alleva E; Cirulli F; Queyras A; Volterra V; Capirci O; Vicari S; Giannotti A; Turrini P; Aloe L Laboratorio di Fisiopatologia di Organo e di Sistema, Istituto Superiore di Sanita, Rome, Italy. Developmental medicine and child neurology (ENGLAND) Nov 2000, 42 (11) p746-50, ISSN 0012-1622 Document type: Journal Article
The neurotrophin nerve growth factor (NGF) is a major regulator of peripheral and central nervous system development. Serum NGF was measured in normally developing control children (n=26) and in individuals affected by congenital syndromes associated with learning disability: either Williams syndrome (WS; n=12) or Down syndrome (DS; n=21). Participants were assessed at three distinct developmental stages: early childhood (2 to 6 years), childhood (8 to 12 years), and adolescence (14 to 20 years). A sample was taken only once from each individual. Serum NGF levels were markedly higher in participants with WS, than DS and control participants. In addition, different developmental profiles emerged in the three groups: while in normally developing individuals NGF levels were higher in early childhood than later on, children with WS showed constantly elevated NGF levels. When compared to control participants, those with DS showed lower NGF levels only during early childhood. Neuropsychological assessment confirmed previously reported differences among the three groups in the development of linguistic/cognitive abilities. Some features of individuals with WS, such as hyperacusis and hypertension, could be related to high-circulating NGF levels.
Record 2Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Martindale DW; Wilson MD; Wang D; Burke RD; Chen X; Duronio V; Koop BF Department of Biology, Centre for Environmental Health, P.O. Box 3020, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada. Mammalian genome (UNITED STATES) Oct 2000, 11 (10) p890-8, ISSN 0938-8990 Languages: ENGLISH Document type: Journal Article
Williams syndrome (WS) is a complex neurodevelopmental disorder arising from a microdeletion at Chr band 7q11.23, which results in a hemizygous condition for a number of genes. Within this region we have completely characterized 200 kb containing the genes LIMK1, WBSCR1, and RFC2. Evidence was also found for WBSCR5 in this region, but not the previously proposed genes WSCR2 and WSCR6. The syntenic region in mouse was also sequenced (115 kb) and characterized, and a comparative sequence analysis with a percent identity plot (PIP) easily allowed us to identify coding exons. This genomic region is GC rich (50.1% human, 49.9% mouse) and contains an unusually high abundance of repetitive elements consisting primarily of Alu (45.4%, one of the highest levels identified to date) in human, and the B family of SINES (30.6% of the total sequence) in mouse. WBSCR1 corresponds to eukaryotic initiation factor 4H, identified in rabbit, and is herein found to be constitutively expressed in both human and mouse, with two RNA and protein products formed (exon 5 is alternatively spliced). The transcription pattern of WBSCR5 was also examined and discussed along with its putative amino acid sequence.
Record 3[Early revealing of Williams-Beuren syndrome by digestive disorders] Revelation precoce par des troubles digestifs d'un syndrome de Williams-Beuren. de Montgolfier-Aubron I; Burglen L; Chavet MS; Tevissen H; Perrot C; Baudon JJ; Gold F Service de neonatologie, hopital d'enfants Armand-Trousseau, Paris, France. Archives de pediatrie (FRANCE) Oct 2000, 7 (10) p1085-7, ISSN 0929-693X Languages: FRENCH Document type: Journal Article
Williams-Beuren syndrome is a rare syndrome for which diagnosis is usually made during early childhood. It includes mental retardation, friendly outgoing personality, typical facies, supravalvular aortic stenosis and hypercalcemia. CASE REPORT: We report the case of a newborn whose gastroesophageal reflux led to the diagnosis of Williams-Beuren syndrome. Hypercalcemia is known to precipitate digestive symptoms but was not present in this case. CONCLUSION: Announcing such a diagnosis in the neonatal period is difficult and may destabilize the family, but at least allows early care of the cardiovascular pathologies that may lead to death.
Record 4[Does the cerebellum play a part in cognitive processes?] Desempena el cerebelo un papel en los procesos cognitivos? Prats-Vinas JM Unidad de Neuropediatria, Hospital de Cruces, Baracaldo, Vizcaya, Espana. [email protected] Revista de neurologia (SPAIN) Aug 16-31 2000, 31 (4) p357-9, ISSN 0210-0010 Languages: SPANISH Document type: Journal Article
OBJECTIVE AND DEVELOPMENT: We review the different cognitive and behaviour disorders in whose genesis the cerebellum has been thought to play a part. These disorders include infantile autism, Williams' syndrome, attention-deficit hyperactivity disorder and congenital cerebellar hypoplasia. We also consider the consequences of an acquired cerebellar lesion in the light of the following neuropsychological sequelas. It would seem that the cerebellum is involved in the functioning of the executive system due to its relationship with the prefrontal operative system and in the function of the working memory, and may share some of the characteristics of the acquired frontal syndrome.
Record 5[Vertebral abnormalities and Williams and Beuren's syndrome] Anomalies vertebrales et syndrome de Williams et Beuren. Ezzeddine H; Mounzer A; Ksra M; Morville P Archives de pediatrie (FRANCE) Sep 2000, 7 (9) p1010, ISSN 0929-693X Languages: FRENCH Document type: Journal Article
Record 6Cotransduction of nondividing cells using lentiviral vectors. Frimpong K; Spector SA Department of Pediatrics, University of California, La Jolla 92093-0672, USA. Gene therapy (ENGLAND) Sep 2000, 7 (18) p1562-9, ISSN 0969-7128 Languages: ENGLISH Document type: Journal Article
Diseases such as AIDS and cancers may require the introduction of multiple genes into either stem cells or nondividing cells, among others, for therapeutic purposes. Such genes may act at different points of the disease pathway, or may constitute a regulatory loop to bypass or rectify the defective gene or pathway underpinning the disease. Ideally, the therapeutic genes must be transduced together in diverse combinations, and the introduction should occur without constraints. Since lentiviral vectors can transduce both dividing and nondividing cells, they are ideal vehicles to investigate combinatorial gene transfer into diverse cells. In this study, we demonstrate that by using two independent lentiviral vectors, pseudotyped with the protein g of vesicular stomatitis virus, up to four genes can be introduced simultaneously into single dividing and nondividing cells. Up to 45% and 73% of dividing and nondividing cells, respectively, could be transduced with two lentiviral vectors. The efficiency of cotransducing a single cell was the product of the individual transduction efficiencies and suggested the absence of viral interference. Multiple and combinatorial gene transduction using lentiviral vectors may prove useful in gene therapy.
Record 7[Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype] Le syndrome de Williams (microdeletion 7q11.23), modele de phenotype comportemental. Battin J; Lacombe D; Taine L; Goizet C Service de Genetique Medicale, CHU Pellegrin-Enfants, Bordeaux, France. Bulletin de l'Academie nationale de medecine (FRANCE) 2000, 184 (1) p105-15; discussion 115-6, ISSN 0001-4079 Languages: FRENCH Document type: Journal Article
A specific behavioral phenotype is recognized in some genetic entities, particularly in microdeletion syndromes secondary to cytogenetically undetectable chromosomal deletions. Williams syndrome (WS) is a developmental disorder displaying dysmorphic signs, heart malformations and behavioral phenotype associated, in most cases, with a deletion of chromosome 7q11.23. We described physical and neuro-psychological assessment of nine cases of SW. Molecular studies were performed using Southern blot analyses or FISH, and identified a 7q11.23 deletion in all cases. Behavioral phenotype of WS is characterized by hyperactivity, engaging and jovial personality, hypersensitivity in hearing, and some elements of speech may be enhanced. Moderate mental retardation is frequently present. Previously reported studies have revealed specific cognitive deficits including deficits in language development and in long term memory, and poor visual-motor integration. Two genes, LIMK1 and STX1A, have been supposed to be implicated in determinism of WS behavioral phenotype. A specific behavioral phenotype is also demonstrated in others microdeletion syndromes, focusing attention on some chromosomal regions supposed to contain candidate genes involved in cognitive and behavioral traits.
Record 8Surgery for bilateral outflow tract obstruction in elastin arteriopathy. Stamm C; Friehs I; Moran AM; Zurakowski D; Bacha E; Mayer JE; Jonas RA; Del Nido PJ Department of Cardiac Surgery, Children's Hospital Boston, Harvard Medical School, Boston, Mass., USA. Journal of thoracic and cardiovascular surgery (UNITED STATES) Oct 2000 , 120 (4) p755-63, ISSN 0022-5223 Languages: ENGLISH Document type: Journal Article
OBJECTIVE: A number of patients with Williams syndrome or other forms of elastin arteriopathy have stenoses of pulmonary arteries in addition to supravalvular aortic stenosis. We sought to investigate the effect of the degree of pulmonary arterial stenosis on the prognosis after an operation for supravalvular aortic stenosis to help define the optimal treatment strategy for patients with severe forms of elastin arteriopathy. METHODS: Between 1960 and 1999, 33 patients underwent operations for supravalvular aortic stenosis while having significant stenoses of the pulmonary arteries. We retrospectively reviewed patient charts, obtained current follow-up information, and determined risk factors for survival and reoperation. RESULTS: Fifteen patients with moderate right-sided obstructions (confirmed by pulmonary artery Z-scores and right ventricular/descending aortic pressure ratio) underwent operations for supravalvular aortic stenosis only. Eighteen patients had more severe right-sided obstructions and underwent surgical relief of pulmonary arterial stenoses or right ventricular outflow tract obstruction in addition to operations for supravalvular aortic stenosis. Eight patients had undergone preoperative balloon dilations of stenotic pulmonary arteries. There were 6 early deaths and 1 late death in our series. Survival at 10 and 20 years was 76% (70% confidence interval, 68%-84%) and freedom from reintervention was 59% (70% confidence interval, 46%-71%) at 10 years and 49% (70% confidence interval, 35%-62%) at 20 years. Multivariate analysis revealed that patients with a right ventricular/descending aortic pressure ratio of 1.0 or more were at higher risk for reintervention but not for death. CONCLUSIONS: Surgical treatment of pulmonary artery obstructions in elastin arteriopathy is palliative but, in conjunction with balloon dilation of peripheral pulmonary arteries, offers good long-term survival to patients with the severest form of elastin arteriopathy.
Record 9Dendritic anomalies in disorders associated with mental retardation. Kaufmann WE; Moser HW Departments of Pathology, Neurology, Pediatrics, and Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD 21205, USA. [email protected] Cerebral cortex (UNITED STATES) Oct 2000, 10 (10) p981-91, ISSN 1047-3211 Journal Code: BI9 Contract/Grant No.: HD 24061, HD, NICHD; HD 24448, HD, NICHD; NS 35359, NS, NINDS Languages: ENGLISH Document type: Journal Article; Review; Review, Tutorial Dendritic abnormalities are the most consistent anatomical correlates of mental retardation (MR). Earliest descriptions included dendritic spine dysgenesis, which was first associated with unclassified MR, but can also be found in genetic syndromes associated with MR. Genetic disorders with well-defined dendritic anomalies involving branches and/or spines include Down, Rett and fragile-X syndromes. Cytoarchitectonic analyses also suggest dendritic pathology in Williams and Rubinstein-Taybi syndromes. Dendritic abnormalities appear to have syndrome-specific pathogenesis and evolution, which correlate to some extent with their cognitive profile. The significance of dendritic pathology in synaptic circuitry and the role of animal models in the study of MR-associated dendritic abnormalities are also discussed. Finally, a model of genotype to neurologic phenotype pathway in MR, centered in dendritic abnormalities, is postulated. (133 Refs.)
Record 10Autism as a neurodevelopmental disorder affecting communication and learning in early childhood: prenatal origins, post-natal course and effective educational support. Trevarthen C Department of Psychology, The University of Edinburgh, Edinburgh, UK. [email protected] Prostaglandins, leukotrienes, and essential fatty acids (SCOTLAND) Jul-Aug 2000, 63 (1-2) p41-6, ISSN 0952-3278 Languages: ENGLISH Document type: Journal Article; Review; Review, Tutorial
Colwyn Trevarthen, working on autism, discussed the importance of time, rhythm and temporal processing in brain function. The brains of new born infants show highly coherent and coordinated patterns of activity over time, and their rhythms are remarkably similar to those of adults. Since the cortex has not yet developed, this coordination must be subcortical in origin. The likely source is the emotional motor system. He noted that the cerebellum might regulate the intricate timing of the development and expression of emotional communication. He also pointed out that emotional and motivational factors have often been seriously neglected in psychology (largely owing to a misplaced focus on 'cognition' as some isolated entity) and emphasized the potential importance of empathetic support and music therapy in helping autistic children. Copyright 2000 Harcourt Publishers Ltd. (35 Refs.)
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