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  • 1
    ISSN: 1364-6753
    Keywords: Key words Amyotrophic lateral sclerosis ; ALS4 locus ; Fine mapping of ALS4
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Amyotrophic lateral sclerosis (ALS) denotes a heterogeneous group of neurodegenerative disorders affecting upper and lower motor neurons. ALS4 is a juvenile-onset, autosomal dominant form of ALS that is characterized by slow progression, distal limb weakness and amyotrophy, and pyramidal signs associated with severe loss of motor neurons in the brain and spinal cord. The ALS4 locus was recently mapped by linkage analysis to a large genetic interval on chromosome 9q34. By undertaking extensive genetic linkage analysis, we have significantly refined the ALS4 locus to a critical interval of less than 3 cM, flanked by D9S149 and D9S1198. Previous physical mapping in this region has indicated that this critical interval spans approximately 500 kb. Seventeen putative transcripts have been localized within this interval including 7 characterized genes, 2 partially characterized genes, and 8 "anonymous" expressed sequence tags . These are therefore positional candidate genes for the ALS4 locus. We have also undertaken mutation analysis and genetic mapping to investigate and exclude candidate genes, including RING3L/ORFX and RALGDS , from a pathogenic role in ALS4.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Amyotrophe Lateralsklerose ; Nichtinvasive Beatmung ; Chronische Hypoventilation ; Palliativtherapie ; Key words Amyotrophic lateral sclerosis ; Home mechanical ventilation ; Chronic hypoventilation ; Palliative therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Almost all patients with amyotrophic lateral sclerosis (ALS) experience symptoms of nocturnal hypoventilation during the course of the illness. These symptoms can develop years before death and may severely affect quality of life. Non-invasive intermittent home mechanical ventilation (HMV) via mask is a possible palliative measure for these symptoms, which is not often used in Germany. We report on our experience with HMV in 24 patients with ALS. Our data show a good palliative effect in 17 of 24 treated patients. Severe complications did not occur. The mean ventilation time at present is 14 months. Available options and their consequences need to be discussed in detail with patients and relatives before HMV is initiated.
    Notes: Zusammenfassung Fast alle Patienten mit amyotropher Lateralsklerose (ALS) leiden im Verlauf der Erkrankung an Symptomen der chronischen Hypoventilation. Diese Symptome können Jahre vor dem Tod auftreten und die Lebensqualität erheblich beeinträchtigen. Eine Möglichkeit zur Linderung dieser Beschwerden stellt die nichtinvasive, intermittierende Selbstbeatmung über Maske (ISB) dar. Allerdings findet diese Maßnahme in Deutschland noch wenig Anwendung. Wir berichten über erste Erfahrungen mit der ISB bei 24 Patienten mit ALS. Unsere Daten zeigen eine gute palliative Wirksamkeit der ISB bei 17 von 24 behandelten Patienten. Schwere Komplikationen wurden nicht beobachtet. Die mittlere Beatmungsdauer beträgt derzeit 14 Monate. Voraussetzung für die Einleitung einer ISB ist eine frühzeitige und ausführliche Diskussion möglicher Optionen und deren Konsequenzen mit Patienten und Angehörigen.
    Type of Medium: Electronic Resource
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