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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 47 (1969), S. 214-220 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. With a column chromatographic technique the excretion of cadaverine and putrescine has been estimated in the urine of normal immature and mature newborns, infants, preschool children, adults, as well as in the urine of patients with cystinurie, cystinlysinurie, intestinal malabsorption, enteritis, and vitamin D-deficiency rickets. 2. Healthy adults, children and most of the infants and mature newborns did not excrete diamines in amounts which exceed 0,1 µmoles/100 ml of urine. In the urine of 3 out of 8 premature infants cadaverine (0.012 to 0.082 µmoles/mg of creatinine) have been found. 3. 8 out of 11 urines from infants with untreated vitamin D-deficiency rickets contained cadaverine (0.007 to 0.69 µmoles/mg of creatinine) and one of them putrescine (0.132 µmoles/mg of creatinine). Only two of six children with untreated malabsorption syndromes excreted small amounts of putrescine (0.005 µmoles/mg of creatinine) and one child cadaverine (0.013 µmoles/mg of creatinine). None or insignificant amounts have been found in the infant group with enteritis. 4. The estimation of the diamine excretion in cystinuria has been performed in 28 urines from three patients with classical cystinuria (2 of type I). The excretion of cadaverine fluctuated between 〈 0.1 µmoles/100 ml of urine and 114,2 µmoles/100 ml of urine and the excretion of putrescine between 〈 0,1 µmoles/100 ml of urine and 2,31 µmoles/100 ml. In two children with cystinlysinuria and atrophic enteropathy cadaverine excretion amounted between 0,09 and 43,2 µmoles/100 ml of urine (1.11 µmoles/mg of creatinine) and the putrescine excretion between 〈 0,1 µmoles/100 ml of urine and 3,2 µmoles/100 ml (0.114 µmoles/mg of creatinine). 5. In some instances, especially in cystinuria and cystinlysinuria, 1,3-diaminopropane, spermidine, and 2,2′-dithiobis(ethylamine) have been found as constituents of urine.
    Notes: Zusammenfassung 1. Die Ausscheidung von Cadaverin und Putrescin im Urin wurde bei folgenden Personengruppen quantitativ bestimmt: Unreife und reife Neugeborene, Säuglinge, Kleinkinder, Erwachsene, Patienten mit Cystinurie, Cystinlysinurie, Malabsorption, Enteritis und Vitamin D-Mangel-Rachitis. 2. Gesunde Erwachsene, Kleinkinder sowie die meisten Säuglinge und reifen Neugeborenen schieden keine Diamine im Urin aus, 3 von 8 Frühgeborenen zeigten dagegen eine Cadaverinausscheidung (0,012–0,082 µMol/mg Kreatinin) und eine Putrescinausscheidung (0,023–0,033 µMol/mg Kreatinin). 3. Bei unbehandelter Vitamin D-Mangel-Rachitis wurde dagegen bei 8 von 10 Patienten eine deutliche Cadaverinausscheidung gefunden (0,007–0,69 µMol/ml Kreatinin). Bei einem dieser Kinder ließ sich außerdem Putrescin im Urin nachweisen (0,132 µMol/mg Kreatinin). Nur 2 von 6 Patienten mit unbehandelten Malabsorptionssyndromen schieden geringe Mengen Putrescin aus (0,005 µMol/mg Kreatinin), eines dieser Kinder hatte etwas Cadaverin (0,013 µMol/mg Kreatinin) im Urin. Keine wesentliche Cadaverin- oder Putrescinausscheidung zeigten die Patienten mit Enteritis. 4. Von 3 Patienten mit klassischer Cystinurie wurden 28 Tagesurine untersucht. Die Cadaverinausscheidung schwankte bei ihnen zwischen weniger als 0,1 µMol/100 ml Urin und 114,2 µMol/100 ml Urin, die Putrescinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 2,31 µMol/100 ml. Bei zwei Kindern mit Cystinlysinurie und atropher Enteropathie bewegte sich die Cadaverinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 43,2 µMol/100 ml Urin (1,11 µMol/mg Kreatinin) und die Putrescinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 3,2 µMol/100 ml Urin (0,114 µMol/mg Kreatinin). 5. Bei einigen Patienten, besonders bei den Patienten mit Cystinurie und Cystinlysinurie, fanden sich zusätzlich noch 1,3-Diaminopropan, Spermidin und 2,2′-Dithiobis(äthylamin) im Urin.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosomal DNA from three individuals with familial hemoglobin M (Hb M) Milwaukee was studied by restriction endonuclease analysis. The segregation of the mutant β-globin gene could be followed through three generations by direct Sst I analysis at the gene level. Various restriction endonucleases were used to confirm the positions of Sst I sites in the δ-βA and δ-βMi-globin gene regions.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the Gγ-globolin gene and its absence in the Aγ-globolin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 71 (1985), S. 134-137 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Analysis of α-thalassemia syndromes in several German families revealed DNA deletion as well as nondeletion forms as the molecular basis for the defects. Thus, the α-thalassemia haplotype was identified as the (−α)3.7 rightward deletion form, and the region of the putative recombination process generating such a deletion was further characterized. In addition three different α° haplotypes, (--)MED, (--)〉26, and (αα)T, could be detected using α-and ζ-globin gene-specific probes.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 260-263 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the α-globin gene deletion or non-deletion form of α-thalassemia is the underlying molecular defect in individuals of two unrelated German families with α-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of α-globin genes resulting in-α/αα,--/αα, and--/-α genotypes in αthalassemia-2, α-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one α-globin gene in α-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the α-gene cluster.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary DNA haplotype constellations of the β-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and β-thalassemias. The polymorphis patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by β-thalassemia syndromes. With the combined analysis of seven restriction site polymorphisms a DNA-diagnostic prediction for additional offspring could be made with an overall frequency of 75% in the four ethnic groups.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Monatsschrift Kinderheilkunde 147 (1999), S. 992-999 
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kongenitale dyserythropoetische Anämie ; Ineffektive Erythropoese ; Erythrozytenmembran ; Eisenüberladung ; Key words Congenital dyserythropoietic anemia ; Ineffective erythropoiesis ; Iron overload ; Red cell membrane
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The congenital dyserythropoietic anemias represent a group of rare inborn errors with ineffective erythropoiesis as the predominant mechanism of anemia. They are primarily classified into three types on the basis of characteristic abnormalities of the erythroblasts as shown by light and electron microscopy. There are distinct associated features such as pattern of heredity, cell kinetics and abnormalities of the cell membrane. In addition, patients with apparent CDA of heterogenous phenotype are observed, that cannot be attributed to any of the three types. Recently variant genes have been localized to different regions on chromosome 15 or 22. Cases of CDA were reported from many ethnics, in particular in families of meditarranean origin. Many patients load iron necessitating iron depletion. Gallstones are a frequent complication and are observed in childhood or adolescence. Therapeutic measures such as splenectomy, treatment by Interferon α or allogeneic bome marrow transplantation depend on the type and the severity of clinical expression, which shows large variations both within and between affected kindreds.
    Notes: Zusammenfassung Unter dem Begriff der kongenitalen dyserythropoetischen Anämien (CDA) wird eine geno- und phänotypisch heterogene Gruppe seltener angeborener Erkrankungen der Erythropoese zusammengefaßt. Sie sind durch eine Ineffektivität der Erythropoese und charakteristische morphologische Veränderungen der Erythroblasten gekennzeichnet, die eine Einteilung in 3 Typen erlauben. Damit assoziierte Merkmale betreffen den Erbgang, die Zellkinetik, Veränderungen der Erythrozytenmembran und die unterschiedliche Lokalisation des varianten Gens. Die Pathogenese ist nur teilweise bekannt. Bei dem meisten Patienten kommt es, teilweise bereits im Kindesalter, zur Gallensteinbildung und zur sekundären Hämochromatose, die eine Eisenentzugsbehandlung erfordert. Therapeutische Maßnahmen wie Splenektomie, Interferon-α-Behandlung oder allogene Knochenmarktransplantation richten sich nach dem CDA-Typ und der sehr unterschiedlichen Schwere der Erkrankung.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Mukoviszidose ; Diabetes mellitus ; , Oraler Glukosetoleranztest ; HbA1c-Wert ; Key words Cystic fibrosis ; Diabetes mellitus ; Oral glucose tolerance test ; HbA1c
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background. With increasing age and prolonged life expectancy a higher incidence and prevalence of diabetes mellitus is found in patients with CF. An early diagnosis of diabetes mellitus is important, since CF-patients with diabetes mellitus present with worse clinical status and increased mortality. Method. An examination of fasting blood glucose, HbA1c level and oral glucose tolerance test were performed in 102 CF-patients during routine care. The values of oral glucose tolerance testing (2 hr blood glucose level) were interpreted according to WHO criteria. In addition the new classification of the American Diabetes Association (ADA) was used, based on fasting blood glucose level. Results. 65,7% of CF-patients had normal glucose tolerance, 21,6% had impaired glucose tolerance and in 12,7% of patients diabetes mellitus was diagnosed based on a 2 hr-blood glucose level 〉200 mg/dl. None of the CF patients had clinical symptoms typical for diabetes. None of the CF-patients had fasting blood sugar levels above 126 mg/dl which alone defines diabetes mellitus according to the new ADA classification. Mean values of fasting blood glucose in CF-patients with diabetes were not statistically different from CF-patients with normal glucose tolerance (p=0,27). 4% of CF-patients with normal glucose tolerance and 23% of patients with impaired glucose tolerance had elevated HbA1c levels. However the sensitivity of HbA1c was low, since only 23% of CF-patients with diabetes mellitus displayed elevated HbA1c. Conclusion. An early diagnosis of diabetes mellitus was only possible by performing an oral glucose tolerance test. Clinical symptoms, fasting blood glucose and HbA1c value were not sensitive to diagnose CF related diabetes mellitus. We therefore suggest to perform a standardized oral glucose tolerance test once a year in all CF-patients older than 8 years.
    Notes: Zusammenfassung Fragestellung. Mit zunehmendem Alter der CF-Patienten bei steigender Lebenserwartung kommt es zu einem Ansteigen der Inzidenz und Prävalenz eines Diabetes mellitus. Eine frühzeitige Diagnosestellung des Diabetes mellitus ist wichtig, da CF-Patienten mit Diabetes mellitus in einem schlechteren klinischen Zustand sind und eine erhöhte Mortalität aufweisen. In der vorliegenden Untersuchung soll geklärt werden, mit welchem diagnostischem Test ein Diabetes mellitus frühzeitig erkannt werden kann. Methode. Bei 102 CF-Patienten wurden im Rahmen der Routineuntersuchungen eine Messung des Nüchternblutzuckers, ein HbA1c-Wert und ein standardisierter oraler Glukosetoleranztest durchgeführt. Die Beurteilung des oralen Glukosetoleranztests (2-h-Wert) wurde gemäß den WHO-Kriterien vorgenommen. Zusätzlich erfolgte eine Zuordnung nach den neuen Diagnosekriterien der American Diabetes Association (ADA) aufgrund des Nüchternblutzuckers. Ergebnisse. 65,7% der CF-Patienten hatten eine normale, 21,6% eine gestörte Glukosetoleranz und bei 12,7% der Patienten wurde ein Diabetes mellitus aufgrund eines 2-h-Blutzuckerwerts 〉200 mg/dl diagnostiziert. Anamnestisch ließen sich keine typischen diabetesspezifischen Symptome erfragen. Keiner der CF-Patienten hatte Nüchternblutzuckerwerte 〉126 mg/dl, welche nach der neuen ADA-Diabetes-Klassifikation zur Diagnose eines Diabetes ausreichen. Der Mittelwert des Nüchternblutzuckers zeigte bei CF-Patienten mit Diabetes im Vergleich zu CF-Patienten mit normaler Glukosetoleranz keinen statistisch signifikanten Unterschied (p=0,27). Erhöhte HbA1c-Werte hatten 4% der CF-Patienten mit normaler und 23% der Patienten mit gestörter Glukosetoleranz . Die Sensitivität des HbA1c-Werts war gering, da von den Patienten mit Diabetes mellitus nur 23% pathologisch erhöhte Werte hatten. Schlussfolgerungen. Eine frühzeitige Diagnose eines Diabetes mellitus konnte nur mittels eines oralen Glukosetoleranztests erfolgen. Sowohl klinische Symptome, Nüchternblutzucker als auch HbA1c erwiesen sich als nicht sensitiv. Zur Diagnosestellung eines sekundären Diabetes mellitus bei CF schlagen wir deshalb vor, bei allen CF-Patienten 〉8 Jahre 1-mal jährlich einen standardisierten, oralen Glukosetoleranztest durchzuführen.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 33 (1976), S. 73-82 
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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