Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Keywords: Machado-Joseph disease, rat homolog, rsca3 expression, SCA3, spinocerebellar ataxia, trinucleotide repeat  (1)
  • Strahlennephritis  (1)
Material
Years
Keywords
  • 1
    ISSN: 1432-1440
    Keywords: Renal artery aneurysm ; Renal cyst ; Hydronephrosis ; Coarctation of the aorta ; Radiation nephritis ; Hypertension ; Renin angiotensin system ; Nierenarterienaneurysma ; Nierencyste ; Hydronephrose ; Coarctatio aortae ; Strahlennephritis ; Hypertonie ; Renin-Angiotensin-System
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In der vorliegenden Studie wurden 19 Patienten mit seltenen Formen renaler Hypertonie untersucht: 6 Patienten mit Nierenarterienaneurysma, 6 Fälle mit unilateraler Hydronephrose, 4 Patienten mit unilateraler Nierencyste, 2 Fälle mit Coarctatio aortae und assozierter Nierenarterienstenose und ein Patient mit Strahlennephritis. Die Plasma-Renin-Aktivität (PRA) im Nierenvenenblut wurde bei 17 der 19 Fälle bestimmt. 7 dieser 17 (41%) Patienten zeigten einen signifikanten Seitenunterschied (PRA betroffene/PRA nicht betroffene Seite) ≧1,5. Der Prozentsatz positiver Tests war in verschiedenen Kollektiven vergleichbar hoch. Nur Patienten mit unilateraler Nierencyste zeigten in keinem Fall einen signifikanten PRA-Quotienten. Eine superselektive Nierenvenenrenin-Bestimmung bei 2 Patienten mit Nierenarterienaneurysma der oberen Segmentarterie zeigte in beiden Fällen eine erhöhte Plasma-Renin-Aktivität im Bereiche des Oberpols. 15 der 19 Patienten (79%) wurden operiert. Dabei kamen entweder plastisch rekonstruktive Verfahren oder eine Nephrektomie zur Anwendung. 4 Fälle mit Nierenarterienaneurysma wurden antihypertensiv behandelt. Patienten mit unilateraler Hydronephrose zeigten postoperativ die besten Ergebnisse (3 geheilt, 3 gebessert), während bei keinem der 4 Patienten mit unilateraler Nierencyste die Blutdruckwerte durch den operativen Eingriff normalisiert werden konnten (3 gebessert, 1 nicht gebessert). Die Patienten mit Coarctatio aortae und assozierter Nierenarterienstenose sowie die 2 operierten Fälle mit Nierenarterienaneurysma zeigten alle ein gutes Ansprechen auf den gefäßrekonstruktiven Eingriff (2 geheilt, 2 gebessert). Der Patient mit Strahlennephritis schließlich war 2 Jahre nach Nephrektomie gebessert. Im Gesamtkollektiv unserer operierten Patienten war die prognostische Aussagekraft der Nierenvenenreninbestimmung beschränkt. Allerdings erwies sich die selektive Nierenvenenreninbestimmung bei Patienten mit einem Aneurysma einer Nierensegmentarterie als nützlich zur Entdeckung lokaler Reninüberproduktion.
    Notes: Summary In the present study 19 patients with rare forms of renal hypertension were investigated: 6 patients with renal artery aneurysm, 6 cases with unilateral hydronephrosis, 4 patients with unilateral simple renal cyst, 2 cases with coarctation of the abdominal aorta and associated renal artery stenosis and 1 patient with radiation nephritis. Renal venous renin activity (PRA) was determined in 17 of the 19 cases. Seven of these 17 (41%) patients showed significant PRA-ratios (PRA affected/PRA unaffected side ≧1.5). The percentage of positive tests was comparably high in the various subgroups except in patients with renal cyst, none of them showing lateralisation of renin secretion. Selective sampling in 2 patients with renal artery branch aneurysm revealed in both cases marked local renin oversecretion. Fifteen of the 19 patients (79%) were operated either by reconstruction surgery or nephrectomy. Four cases with a renal artery aneurysm were treated with antihypertensive drugs. Patients with unilateral hydronephrosis showed the best response to surgery in terms of cure rate (3 cured, 3 improved), whereas blood pressure normalisation could not be achieved in patients with simple renal cyst (2 improved, 1 unimproved). Patients with coarctation of the abdominal aorta and associated renal artery stenosis and the 2 operated cases with renal artery aneurysm showed a good effect of corrective surgery (2 cured, 2 improved). The patient with radiation nephritis finally was improved 2 years after nephrectomy. For the total group the prognostic validity of renal venous renin determination was limited. However, selective blood sampling from peripheral renal veins may be useful in cases with renal artery branch aneurysm to detect local oversecretion of renin.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Neurogenetics 1 (1997), S. 103-112 
    ISSN: 1364-6753
    Keywords: Keywords: Machado-Joseph disease, rat homolog, rsca3 expression, SCA3, spinocerebellar ataxia, trinucleotide repeat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Machado-Jeseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia. The disease-causing mutation has recently been identified as an unstable and expanded (CAG)n trinucleotide repeat in a novel gene of unknown function. In Caucasians, repeat expansions in the MJD1 gene have also been found in patients with the clinically distinct autosomal dominant spinocerebellar ataxia type 3 (SCA3). In order to gain insight into the biology of the MJD1/SCA3 gene we cloned the rat homologue and studied its expression. The rat and human ataxin-3 gene are highly homologous with an overall sequence identify of ∼88%. However, the C-terminal end of the putative protein differs strongly from the published human sequence. The (CAG)n block in the rat cDNA consits of just three interrupted units suggesting that a long polyglutamine stretch is not essential for the normal function of the ataxin-3 protein in rodents. The expression pattern of the SCA3 gene in various rat and human tissues was investigated by Northern blot analyses. The mature transcript is ∼6 kg in length. In rat testis, a smaller transcript of 1.3 kb was identified. Transcription of rsca3 was detected in most rat tissues including brain. Analyzing the expression level of the SCA3 gene in several human brain sections revealed no significant higher mRNA level in regions predominantly affected in MJD. Thus additional molecules and/or regulatory events are necessary to explain the exclusive degeneration of certain brain areas.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...