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  • 1
    Digitale Medien
    Digitale Medien
    Typische Antizipation bei spinozerebellärer Ataxie Typ 7 (2000)
    Springer
    Der Nervenarzt 71 (2000), S. 835-838 
    Details
    ISSN: 1433-0407
    Schlagwort(e): Schlüsselwörter SCA7 ; CAG-Repeat ; Ataxie ; Makuladegeneration ; Keywords SCA7 ; Anticipation ; CAG repeat ; Ataxia ; Macular degeneration
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Abstract Spinocerebellar ataxia type 7 (SCA7) belongs to the category of autosomal dominant cerebellar ataxias (ADCA). The clinical picture is characterised by progressive ataxia and macular degeneration. Other common signs are slow saccades, external ophthalmoplegia, and pyramidal tract signs. The disease is caused by the expansion of an unstable CAG trinucleotide repeat in the gene for ataxin 7 on chromosome 3. SCA7 is a rare disorder. The first case in Germany was described only recently. We report two additional patients, father and son, with the molecular genetic diagnosis of SCA7. The father carries a trinucleotide expansion of 42 CAG repeats, the son 51. Normal alleles range from 7 to 35 CAG repeats. Both patients show the typical picture with progressive ataxia and macular degeneration. We found a pronounced anticipation (earlier disease onset in subsequent generations), which is highly characteristic of CAG repeat disorders.
    Notizen: Zusammenfassung Die spinozerebelläre Ataxie Typ 7 (SCA7) gehört zu den autosomal-dominanten zerebellären Ataxien (ADCA). Klinisch zeichnet sich die SCA7 durch eine Kombination von progressiver Ataxie und Makuladegeneration aus, darüber hinaus können weitere Symptome wie z. B. Okulomotorikstörungen und Pyramidenbahnzeichen auftreten. Molekulargenetisch liegt der Erkrankung eine CAG-Repeat-Verlängerung im Gen für Ataxin 7 auf Chromosom 3 zugrunde. Die SCA7 ist eine seltene Erkrankung, erst kürzlich wurde der erste Fall in Deutschland beschrieben. Wir berichten über 2 weitere Patienten, Vater und Sohn, mit molekulargenetisch gesicherter SCA7. Es fand sich eine Verlängerung der betreffenden CAG-ä liegt zwischen 7 und 35 CAG-Repeateinheiten. Beide Patienten zeigen das charakteristische klinische Bild mit zerebellärer Ataxie und Makuladegeneration. Darüber hinaus besteht eine ausgeprägte Antizipation (früheres Erkrankungsalter in den Folgegenerationen), was für die sog. CAG-Repeat-Erkrankungen typisch ist.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s001150050672
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  • 2
    Digitale Medien
    Digitale Medien
    A new method of three-dimensional computer assisted reconstruction of the developing biliary tract (1999)
    Springer
    Surgical and radiologic anatomy 21 (1999), S. 55-58 
    Details
    ISSN: 1279-8517
    Schlagwort(e): Three-dimensional computer assisted reconstruction ; Biliary tract ; Human embryo ; Carnegie stage 23
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Résumé Une reconstruction tridimensionnelle assistée par ordinateur de l'arbre biliaire a été réalisée chez des embryons de rats et un embryon humain pour décrire et comparer les structures biliaires et pour mettre en évidence les rapports anatomiques des différents éléments du pédicule hépatique. Des coupes sagittales (épaisseur de 7 µm) d'un embryon humain et de 16 embryons de rat ont été directement acquises par ordinateur. Les coupes sériées ont été automatiquement alignées. Les données ont été analysées en utilisant une segmentation et un seuillage permettant une reconstruction automatique. Les voies biliaires principales avaient un trajet ascendant dans le mésoderme du ligament hépato-duodénal. Les voies biliaires extra-hépatiques : conduit cholédoque (CD), conduit cystique et la vésicule biliaire chez l'humain, étaient en continuité. L'ampoule hépato-pancréatique a été explorée par transparence à travers le duodénum. Le CD avait un trajet en chicane. Le diamètre et la longueur de la vésicule biliaire étaient identiques à celles du CD. La reconstruction assistée par ordinateur permet une acquisition aisée des données par l'examen direct des coupes histologiques à travers un microscope. Cette méthode détermine clairement les relations entre les différents éléments du pédicule hépatique et leur volume, ce qui n'était pas évident à l'examen en 2 dimensions des coupes histologiques. Chaque stade embryonnaire pourrait être ainsi reconstruit en 3-D, introduisant ainsi le temps comme quatrième dimension, ceci étant fondamental pour l'étude de l'organogénèse.
    Notizen: Summary A three-dimensional (3-D) computer assisted reconstruction of the biliary tract was performed in human and rat embryos at Carnegie stage 23 to describe and compare the biliary structures and to point out the anatomic relations between the structures of the hepatic pedicle. Light micrograph images from consecutive serial sagittal sections (diameter 7 mm) of one human and 16 rat embryos were directly digitalized with a CCD camera. The serial views were aligned automatically by software. The data were analysed following segmentation and thresholding, allowing automatic reconstruction. The main bile ducts ascended in the mesoderm of the hepatoduodenal ligament. The extrahepatic bile ducts: common bile duct (CD), cystic duct and gallbladder in the human, formed a compound system which could not be shown so clearly in histologic sections. The hepato-pancreatic ampulla was studied as visualised through the duodenum. The course of the CD was like a chicane. The gallbladder diameter and length were similar to those of the CD. Computer-assisted reconstruction permitted easy acquisition of the data by direct examination of the sections through the microscope. This method showed the relationships between the different structures of the hepatic pedicle and allowed estimation of the volume of the bile duct. These findings were not obvious in two-dimensional (2-D) views from histologic sections. Each embryonic stage could be rebuilt in 3-D, which could introduce the time as a fourth dimension, fundamental for the study of organogenesis.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01635054
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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    Artikel (Nationallizenzen)
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  • 3
    Digitale Medien
    Digitale Medien
    A new method of three-dimensional computer assisted reconstruction of the developing biliary tract (1999)
    Springer
    Surgical and radiologic anatomy 21 (1999), S. 55-58 
    Details
    ISSN: 1279-8517
    Schlagwort(e): Three-dimensional computer assisted reconstruction ; Biliary tract ; Human embryo ; Carnegie stage 23
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A three-dimensional (3-D) computer assisted reconstruction of the biliary tract was performed in human and rat embryos at Carnegie stage 23 to describe and compare the biliary structures and to point out the anatomic relations between the structures of the hepatic pedicle. Light micrograph images from consecutive serial sagittal sections (diameter 7 mm) of one human and 16 rat embryos were directly digitalized with a CCD camera. The serial views were aligned automatically by software. The data were analysed following segmentation and thresholding, allowing automatic reconstruction. The main bile ducts ascended in the mesoderm of the hepatoduodenal ligament. The extrahepatic bile ducts: common bile duct (CD), cystic duct and gallbladder in the human, formed a compound system which could not be shown so clearly in histologic sections. The hepato-pancreatic ampulla was studied as visualised through the duodenum. The course of the CD was like a chicane. The gallbladder diameter and length were similar to those of the CD. Computer-assisted reconstruction permitted easy acquisition of the data by direct examination of the sections through the microscope. This method showed the relationships between the different structures of the hepatic pedicle and allowed estimation of the volume of the bile duct. These findings were not obvious in two-dimensional (2-D) views from histologic sections. Each embryonic stage could be rebuilt in 3-D, which could introduce the time as a fourth dimension, fundamental for the study of organogenesis.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s00276-999-0055-4
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
    BibTip Andere fanden auch interessant ...
    Artikel (Nationallizenzen)
    Volltext
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