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  • 1
    Electronic Resource
    Electronic Resource
    The identification of hyperoxaluria in very low-birthweight infants  –  which urine sampling method? (1997)
    Springer
    Pediatric nephrology 11 (1997), S. 205-207 
    Details
    ISSN: 1432-198X
    Keywords: Key words: Oxalate   ;   Hyperoxaluria   ;   Very low-birthweight infants   ;   Spot urine   ;   24-h urine collection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. The present study was performed to determine the best method of urine collection for measurement of oxalate excretion in very low-birthweight (VLBW) infants and to verify the utility of the oxalate/creatinine ratio in VLBW infants. This has not been investigated in this group with developing renal function. In a prospective study of 30 VLBW infants, we compared oxalate excretion in urine collected over 24 h and in a spot urine sample. The urinary oxalate concentration was measured by the oxalate oxidase method. The correlation coefficient between the amount of oxalate per kilogram body weight excreted daily and the oxalate/creatinine ratio in spot urine sample was 0.80 (P〈0.0001) and with the oxalate/creatinine ratio in a 24-h urine collection 0.82 (P〈0.0001). The two highest levels of oxalate excretion (〉100 μmol/kg per day) were detected with both oxalate/creatinine ratios (〉1 mmol/mmol). No circadian rhythm of oxalate excretion was found. The measurement of the oxalate/creatinine ratio in spot urine samples is suitable for screening VLBW infants for hyperoxaluria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670050261
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  • 2
    Electronic Resource
    Electronic Resource
    Mutations in GLUT2 , the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome (1997)
    [s.l.] : Nature Publishing Group
    Nature genetics 17 (1997), S. 324-326 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] GLUT-2 is the 524-amino-acid, high-Km facilitative glucose transporter expressed in hepatocytes, pancreatic β-cells and the baso-lateral membranes of intestinal and renal epithelial cells 6. The 30-kb human gene, GLUT2, has been cloned, sequenced and localized to chromosome 3q26.1–26.3 ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1197-324
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  • 3
    Electronic Resource
    Electronic Resource
    Incidence of glycogen storage disease in the German Federal Republic (1975)
    Springer
    European journal of pediatrics 120 (1975), S. 79-85 
    Details
    ISSN: 1432-1076
    Keywords: Glycogenosis ; Population study ; Type distribution
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 100 cases of GSD were traced in the GFR. The overall incidence is 1:113000 in proportion to live births. Type I occurs most frequently with 30%, followed by Type II and Type VI with 20% each. Type III is extremely rare in the GFR. 5 cases were classified as glycogenosis with the Fanconi syndrome. With the exception of Type III the type distribution in the GFR was similar to that found in 316 cases in a diagnostic center in Belgium.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445157
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  • 4
    Electronic Resource
    Electronic Resource
    The influence of phenobarbital on carbohydrate metabolism in developing rat liver (1976)
    Springer
    European journal of pediatrics 122 (1976), S. 249-256 
    Details
    ISSN: 1432-1076
    Keywords: Phenobarbital ; Enzyme development ; Carbohydrate metabolism ; Rat liver
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The influences of phenobarbital (PB) on enzymes of the carbohydrate metabolism in rat liver are examined during pre- and postnatal development. The following results are obtained: (1) PB generally increases G-6-Pase before and after birth. (2) Both the active and the inactive forms of phosphorylase are increased significantly during the prenatal periods. During the postnatal periods, mainly the active form of phosphorylase is influenced by PB. (3) Total glycogen synthetase is increased by PB during prenatal development but decreased during postnatal development. (4) The activity of α-glucosidase is increased during the prenatal period. (5) The activity of F-6-PK and 6-PGDH are decreased during the prenatal periods and G-6-PDH activity is decreased during both pre- and postnatal periods.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00481504
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  • 5
    Electronic Resource
    Electronic Resource
    Sugars, lactic acid and pH in feces of children. A useful diagnostical approach for gastrointestinal disorders? (1973)
    Springer
    European journal of pediatrics 115 (1973), S. 141-153 
    Details
    ISSN: 1432-1076
    Keywords: Feces ; Total sugar ; Lactic acid ; pH ; Malabsorption syndrome ; Diarrhea
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Im Stuhl von 135 gesunden Frühgeborenen, Neugeborenen, Säuglingen und Kleinkindern und im Stuhl von 28 Kindern mit Diarrhoe wurden bestimmt: Gesamtzuckergehalt, Milchsäurekonzentration, pH und dünnschichtchromatografisch die Zuckerspektren. Es konnte gezeigt werden, daß weder die Altersgruppen untereinander noch die gesunden Kinder gegenüber den Kindern mit Diarrhoe signifikante Unterschiede in einem der untersuchten Parameter boten. Es wird gefolgert, daß die Diagnose einer Zuckermalabsorption aus diesen Parametern nicht zu stellen ist.
    Notes: Abstract The estimation of total sugar, lactic acid and pH and sugar chromatography of the stool was done in 168 normal children and children suffering from malabsorption syndromes and diarrhea. No significant difference of the parameters between normals and patients could be established.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440539
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  • 6
    Electronic Resource
    Electronic Resource
    Magnesium balance studies in premature and term infants (2000)
    Springer
    European journal of nutrition 39 (2000), S. 1-6 
    Details
    ISSN: 1436-6215
    Keywords: Key words Premature infants – magnesium – balance studies – human milk – formula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Medicine
    Notes: Summary Background: The knowledge of magnesium requirements of premature infants is still very limited, although it is essential for the optimal composition of suitable formulas. Aim of the study: The study concept was 1) to assess physiological magnesium balance data of healthy term infants and longitudinal results from formula-fed premature infants and 2) to deduce conclusions on the magnesium content of the formulas. Methods: Premature infants (n = 14, birth weight ≤ 1500 g, gestational age ≤ 32 weeks) were studied in conventional balance trials with 1) a semi-elemental diet (A), 2) preterm infant formula (B), and 3) infant formula (C). In addition, healthy term formula-fed (n = 11, D) and breast-fed (n = 14, E) infants were investigated. Analysis was performed by flame atomic absorption spectroscopy. Results: The median magnesium intake ranged between 4.84 mg/kg × d−1 (breast-fed infants) and 16.33 mg/kg × d−1 (premature infants). The term breast-fed infants retained nearly as much magnesium as term formula-fed infants (3.37 vs. 3.97 mg/kg × d−1), due to a low percental fecal and urinary excretion. A higher magnesium retention was observed in the premature group: A: 7.97 mg/kg × d−1, B. 5.3 mg/kg × d−1, 3.) 5.54 mg/kg × d−1. Conclusion: In view of the high percental magnesium retention in formula-fed premature infants, excessive supply should be avoided. The long-term effects of lower intakes have to be monitored.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003940050069
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  • 7
    Electronic Resource
    Electronic Resource
    Amplification of a Y-chromosomal DNA sequence by the polymerase chain reaction for documentation of residual recipient cells in small samples from bone marrow, peripheral blood and cerebrospinal fluid after bone marrow transplantation (1993)
    Weinheim : Wiley-Blackwell
    Electrophoresis 14 (1993), S. 174-178 
    Details
    ISSN: 0173-0835
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: The long arm of the human Y-chromosome contains about 800 to 5000 copies of the tandemly repeated DNA sequence DYZ1. A major part of the repeating unit (pHY10)has been cloned and sequenced [1]. Primers were designed to match a part of this repeat sequence for the amplification of a 154 bp fragment spanning the Eco RI restriction site of the unit [2]. Typical dilution experiments showed that this polymerase chain reaction (PCR) method allows the detection of 5 to 10 male cells among 100000 female cells [3], or in 500 μL of cerebrospinal fluid containing only one cell per μL. In addition, the quality of the DNA used for the amplification reaction is less critical, thus allowing analysis of long-term stored samples such as bone marrow smears or dried blood stains spotted onto filter paper, which might contain partially degraded DNA [4]. We applied this technique to detect residual host cells in the clinical setting of human sex-mismatched bone marrow transplantation (BMT). Fourteen patients, receiving transplantations because of leukemias could be supervised so far. Throughout the whole period of monitoring (days + 14 until +911 post BMT; median: 160 days), residual host cells were detected in all but three patients. Persistence of host cells in the early phase post-BMT was mostly transient and probably due to long-term surviving host T-lym-phocytes. Reappearance of host cells several months after BMT is highly suspicious of relapse from the underlying malignancy. Due to its high sensitivity, PCR is a valuable tool in monitoring the switch from recipient to donor cell population. In addition, the documentation of persisting or reappearing recipient cells could be associated with clinical relapse [5].
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150140129
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  • 8
    Electronic Resource
    Electronic Resource
    Precast commercial polyacrylamide gels for separation of DNA amplificates by temperature gradient gel electrophoresis: Application to clonality analysis of lymphomas (1996)
    Weinheim : Wiley-Blackwell
    Electrophoresis 17 (1996), S. 672-677 
    Details
    ISSN: 0173-0835
    Keywords: Temperature gradient gel electrophoresis ; CDR-III rearrangement ; B cell ; Lymphoma ; Leukemia ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: The third complementary determining region (CDR-III) of the rearranged immunoglobulin heavy chain (IgH) genes represents a unique marker for a lymphocyte and its clonal descendants and can be amplified by the polymerase chain reaction (PCR) technique. This approach has markedly enhanced the sensitivity for detection of clonal lymphocyte populations in patients with malignant B-lymphoid neoplasias. To monitor minimal residual disease (MRD) in tissue specimens during or after antineoplastic treatment, the problem of detecting the presence of a few clonal (malignant) lymphocytes in coexistence with a majority of polyclonal lymphocytes has to be addressed. Semi-nested PCR amplification of CDR-III rearrangements from specimen infiltrated by tumor cells generates clonal signals in front of a polyclonal background, and therefore high resolution electrophoretic techniques for separation of DNA fragments are required. Temperature gradient gel electrophoresis (TGGE) resolving DNA homo- and heteroduplexes according to their thermal stability has been successfully applied for this purpose using special electrophoretic equipment. We describe an adjustment to this technique by using a commercially available precast 0.5 mm thick polycarylamide gel and by changing a standard horizontal electrophoretic device into a TGGE device. By this means we screened patients with B-cell lymphoma undergoing high-dosage radiochemotherapy followed by autologous transplantation for continuous presence of clonal (tumor-specific) CDR-III rearrangements. Specimens from blood and bone marrow were collected on diagnosis as well as before and after autologous transplantation. In addition, the autograft (bone marrow or peripheral blood hematopoietic stem cells) was analyzed. Tumor cells were easily detected in the transplants and in specimens collected during follow-up examinations. The clinical value of these findings remains unclear as yet because the number of cases investigated was small and the follow-up time is still too short. However, we conclude that the technique of combining the sensitivity of PCR with the specificity of high resolution TGGE is easy to use, making it possible to handle, in a clinical routine, a great number of samples within a short time in order to monitor MRD in patients with B-cell neoplasias.
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150170408
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