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  1. Book: Batten disease

    Wisniewski, K. E / Zhong, Nanbert

    diagnosis, treatment, and research

    (Advances in genetics ; 45)

    2001  

    Author's details edited by Krystyna E. Wisniewski, Nanbert Zhong
    Series title Advances in genetics ; 45
    Keywords Neuronal ceroid-lipofuscinosis. ; Molecular cloning.
    Language English
    Size xiii, 243 p. :, ill. (some col.) ;, 24 cm.
    Publisher Academic Press
    Publishing place San Diego
    Document type Book
    ISBN 0120176459 ; 9780120176458
    Database NAL-Catalogue (AGRICOLA)

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  2. Book: Batten disease

    Wisniewski, K. E / Zhong, Nanbert

    diagnosis, treatment, and research

    (Advances in genetics ; v. 45)

    2001  

    Author's details edited by Krystyna E. Wisniewski, Nanbert Zhong
    Series title Advances in genetics ; v. 45
    MeSH term(s) Neuronal Ceroid-Lipofuscinoses ; Neuronal Ceroid-Lipofuscinoses/genetics
    Language English
    Size xiii, 243 p. :, ill. ;, 24 cm.
    Publisher Academic Press
    Publishing place San Diego
    Document type Book
    Database Catalogue of the US National Library of Medicine (NLM)

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  3. Article: Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis.

    Wisniewski, K E

    American journal of medical genetics. Supplement

    1990  Volume 7, Page(s) 274–281

    Abstract: All Down syndrome (DS) children have different degrees of developmental disabilities, developmental delay, and developmental brain abnormalities associated with CNS maturation delay and cortical dysgenesis. We have examined 780 occipitofrontal ... ...

    Abstract All Down syndrome (DS) children have different degrees of developmental disabilities, developmental delay, and developmental brain abnormalities associated with CNS maturation delay and cortical dysgenesis. We have examined 780 occipitofrontal circumferences (OFC), mean and +/- SD, of DS children from birth to age 5 years. Also, gross and microscopic neuropathological studies in the same age group were performed, with special attention to brain weight (BW), shape, myelin formation, cortical organization of 101 DS and 80 non-DS individuals; ultrastructural studies were also performed on selective cases (five DS and five non-DS). The OFC was plotted on Nellhause curves and showed microcranium after mid-infancy in most cases. Twenty percent of DS children had an OFC in the lower normal range. The brain shape in DS newborn infants was the same as in non-DS infants, but after 3-5 months of age in DS infants the antero-posterior diameter was found to be shorter than in non-DS infants. Narrowness of the superior temporal gyrus was noted in 34 of 101 (33%) of DS brains. Microscopic examination showed myelination delay in 22.5% DS and only in 6.8% non-DS children. Morphometric studies in DS cases from birth showed fewer neurons (20-50% less), lower neuronal densities, and neuronal distribution, especially of cortical layers II and IV. Ultrastructurally in DS, the synaptic density, synaptic length, and contact zones were found to be abnormal. The retardation of brain growth, maturation delay, and cortical dysgenesis present in DS children most likely are regulated by the extra chromosome 21, but the gene responsible for the abnormalities remains to be determined.
    MeSH term(s) Brain/growth & development ; Brain/pathology ; Cerebral Cortex/pathology ; Child, Preschool ; Down Syndrome/pathology ; Down Syndrome/physiopathology ; Humans ; Infant ; Infant, Newborn ; Myelin Sheath/pathology ; Myelin Sheath/physiology ; Neurons/pathology ; Organ Size ; Synapses/pathology
    Language English
    Publishing date 1990
    Publishing country United States
    Document type Journal Article
    ISSN 1040-3787 ; 0148-7299
    ISSN 1040-3787 ; 0148-7299
    DOI 10.1002/ajmg.1320370755
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Outlook for future treatment.

    Zhong, N / Wisniewski, K E

    Advances in genetics

    2001  Volume 45, Page(s) 217–224

    Abstract: Currently, no treatment is available for neuronal ceroid lipofuscinoses. The progress of human genome project will stimulate molecular cloning of unidentified genes underlying the NCLs, which will lead eventually clinical management and therapies for NCL. ...

    Abstract Currently, no treatment is available for neuronal ceroid lipofuscinoses. The progress of human genome project will stimulate molecular cloning of unidentified genes underlying the NCLs, which will lead eventually clinical management and therapies for NCL. Characterizing the native substrate(s) for the palmitoyl-protein thioesterase-1 (PPT1) and tripeptidyl peptidase 1 (TPP1), understanding the protein functions encoded by CLN genes, and uncovering the pathological metabolic mechanism for the NCLs are the bases of designing rational treatments for the NCLs. Testing potential therapeutic agents, replacing deficient enzymes, and developing gene therapy will be the major tasks for NCL researchers.
    MeSH term(s) Clinical Trials as Topic ; Cloning, Molecular ; Genetic Therapy ; Humans ; Lysosomes/enzymology ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/metabolism ; Neuronal Ceroid-Lipofuscinoses/therapy
    Chemical Substances Membrane Proteins
    Language English
    Publishing date 2001-04-24
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 148-x
    ISSN 0065-2660
    ISSN 0065-2660
    DOI 10.1016/s0065-2660(01)45013-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Normal ageing in adults with Down's syndrome: a longitudinal study

    Wisniewski, K. E.

    J. Intellectual Disability Research

    1996  Volume 40, Issue 3, Page(s) 208–221

    Abstract: The ubiquitous presence of the neuropathology of Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years of age suggests that this group of people will exhibit a high prevalence of dementia of the Alzheimer type (DAT) as they age. ... ...

    Institution 1050 Forest Hill Road, USA-Staten Island, NY 10314 Department of Psychology, NYS Institute for BasicResearch
    Abstract The ubiquitous presence of the neuropathology of Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years of age suggests that this group of people will exhibit a high prevalence of dementia of the Alzheimer type (DAT) as they age. The present study indicates that there is a clear discrepancy between the presumed presence of AD neuropathology and the clinical expression of DAT among older people with DS. In the first 6 years of a longitudinal study, the present authors compared 91 adults (31-63 years of age) with DS and mild or moderate mental retardation to 64 adults (31-76 years of age) with other forms of mental retardation (MR) on yearly measures of mental status, short- and long-term memory, speeded psychomotor function, and visuospatial organization. The results indicated that, over repeated testing on the verbal long-term memory test, younger participants with DS showed small increases in their scores, while older participants with DS showed very slight decreases. Overall performance scores on this test and a speeded psychomotor task were poorer for both diagnostic groups in individuals aged 50 years and older. The magnitude and type of these selective changes in performance were consistent with performance profiles observed in older healthy adults without mental retardation on tests measuring similar cognitive functions. Only four out of the 91 people with DS in the present sample showed changes in functioning that have led to a diagnosis of possible DAT, and in these individuals, alternative causes of performance declines were concurrently present (e.g. thyroid dysfunction). These findings indicate that some age-associated changes in functioning are related to "normal" but probably precocious ageing among adults with DS. Furthermore, these findings suggest that adults with DS and mild or moderate mental retardation may be at lower risk for dementia during their fourth and fifth decades of life than previous studies have suggested.
    Keywords Down-Syndrom ; Erwachsener ; Alterung ; Laengsschnittstudie ; Alzheimer-Krankheit
    Language English
    Document type Article
    Database Social Medicine (SOMED)

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  6. Book: Normal and pathologic development of the human brain and spinal cord

    Da̜mbska, Maria / Wisniewski, K. E

    1999  

    Author's details Maria Da̜mbska and Krystyna E. Wiśniewski
    MeSH term(s) Brain/growth & development ; Brain Diseases ; Spinal Cord/growth & development ; Spinal Cord/pathology
    Language English
    Size xv, 192 p. :, ill.
    Publisher John Libbey
    Publishing place London
    Document type Book
    ISBN 9780861965915 ; 0861965914
    Database Catalogue of the US National Library of Medicine (NLM)

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  7. Article: The diagnostic value of ultrastructural studies of skin-punch biopsies and buffy coat for the early diagnosis of some neurodegenerative diseases.

    Wisniewski, K E

    Annals of the New York Academy of Sciences

    1986  Volume 477, Page(s) 285–311

    MeSH term(s) Adolescent ; Adult ; Biopsy/methods ; Child ; Child, Preschool ; Fibroblasts/ultrastructure ; Glycogen Storage Disease/diagnosis ; Humans ; Inclusion Bodies/ultrastructure ; Infant ; Lipidoses/diagnosis ; Lymphocytes/ultrastructure ; Lysosomes/enzymology ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/pathology ; Mucopolysaccharidoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Skin/ultrastructure
    Language English
    Publishing date 1986
    Publishing country United States
    Document type Journal Article
    ZDB-ID 211003-9
    ISSN 1749-6632 ; 0077-8923
    ISSN (online) 1749-6632
    ISSN 0077-8923
    DOI 10.1111/j.1749-6632.1986.tb40349.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Book: Growth hormone treatment in Down's syndrome

    Castells, Salvador / Wisniewski, K. E

    1993  

    Author's details edited by S. Castells and K.E. Wisniewski
    MeSH term(s) Down Syndrome/drug therapy ; Down Syndrome/physiopathology ; Growth Disorders/drug therapy ; Growth Hormone/therapeutic use
    Language English
    Size xvii, 285 p. :, ill.
    Publisher John Wiley & Sons
    Publishing place Chichester ; New York
    Document type Book
    ISBN 9780471939917 ; 0471939919
    Database Catalogue of the US National Library of Medicine (NLM)

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  9. Article: Correlations between clinical and neuropathological diagnosis of cortical anomalies in developmentally disabled children.

    Wisniewski, K E / Dambska, M

    Brain & development

    1995  Volume 17 Suppl, Page(s) 48–54

    Abstract: The capabilities and limitations of clinical diagnoses, particularly brain imaging of cortical anomalies, in developmentally disabled children are reviewed. Some aspects of diagnostic problems in generalized cortical dysgeneses, like lissencephaly type I ...

    Abstract The capabilities and limitations of clinical diagnoses, particularly brain imaging of cortical anomalies, in developmentally disabled children are reviewed. Some aspects of diagnostic problems in generalized cortical dysgeneses, like lissencephaly type I and II, subcortical heterotopias, generalized polymicrogyria, or focal cortical anomalies and primary micrencephalies, are discussed.
    MeSH term(s) Brain Diseases/diagnosis ; Brain Diseases/pathology ; Cerebral Cortex/abnormalities ; Cerebral Cortex/pathology ; Child ; Developmental Disabilities/diagnosis ; Developmental Disabilities/pathology ; Humans ; Magnetic Resonance Imaging ; Tomography, X-Ray Computed
    Language English
    Publishing date 1995
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 604822-5
    ISSN 0387-7604
    ISSN 0387-7604
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Growth hormone treatment in Down syndrome.

    Castells, S / Wisniewski, K E

    The Journal of pediatrics

    1994  Volume 124, Issue 1, Page(s) 158–159

    MeSH term(s) Child ; Down Syndrome/complications ; Growth Disorders/drug therapy ; Growth Disorders/etiology ; Growth Hormone/therapeutic use ; Humans ; Recombinant Proteins
    Chemical Substances Recombinant Proteins ; Growth Hormone (9002-72-6)
    Language English
    Publishing date 1994-01
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/s0022-3476(94)70277-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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