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  • 1
    Abstract: Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. 〉100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542T〉G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H(+)-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures. Proliferation of the patient's fibroblasts was significantly reduced and doubling time prolonged. Additionally, there were alterations in the fibroblasts' amino acid levels and the acylcarnitine composition. Especially, short-chain species were reduced, whereas several medium- to long-chain acylcarnitines (C14-OH to C18) were elevated. Investigation of the main lipid classes revealed that total cholesterol was significantly enriched in the patient's fibroblasts at the expense of phophatidylcholine and phosphatidylethanolamine. Within the minor lipid species, hexosylceramide was reduced, while its immediate precursor ceramide was increased. Since catalase activity and ACOX3 expression in peroxisomes were reduced, we assume an ATP6AP1-dependent impact on the beta-oxidation of fatty acids. These results help to understand the complex clinical characteristics of this new patient.
    Type of Publication: Journal article published
    PubMed ID: 29396028
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  • 2
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  128. Kongress der Deutschen Gesellschaft für Chirurgie; 20110503-20110506; München; DOC11dgch458 /20110520/
    Publication Date: 2011-05-20
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 3
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    Unknown
    German Medical Science; Düsseldorf, Köln
    In:  15. Jahrestagung der Deutschen Gesellschaft für Thoraxchirurgie; 20060427-20060429; Weimar; DOC06dgt45 /20060426/
    Publication Date: 2006-04-27
    Keywords: Mortalitätsrisiko ; Lungenresektion ; COPD ; KHK ; ddc: 610
    Language: German
    Type: conferenceObject
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Clinical and experimental medicine 138 (1964), S. 435-438 
    ISSN: 1591-9528
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The blood flow through the femoral bone marrow of the anesthetized rabbit was quantitatively measured with the 4-aminoantipyrine-method. A high blood flow of 0,9–1,3 ml/g/min was found in red, hematopoetically active marrow; in yellow marrow the flow was 0,15–0,25 ml/g/min.
    Notes: Zusammenfassung Mit der 4-Aminoantipyrin-Methode wurde die Durchblutung des Femurknochenmarks beim narkotisierten Kaninchen quantitativ gemessen. Nach der Messung wurde die Markqualität makroskopisch festgestellt. Rotes, hämatopoetisch aktives Mark hatte einen hohen Durchfluß von 0,9–1,3 ml/g/min, gelbes Fettmark einen niedrigen Durchfluß von 0,15–0,25 ml/g/min.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1612-1112
    Keywords: Column liquid chromatography ; Characterization of reversed phases ; Column hydrophobicity ; Column hydrophylicity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Summary The validity of a method for characterizing stationary phases for reversed-phase, liquid chromatography, based on the use of homologous series, has been evaluated. The method is based on a retention model which describes the dependence of the logarithm of the capacity factor on mobile phase composition and the carbon number of specific homologous series. A first-order as well as a second-order version of this model was investigated. The second-order model proved to be a significant improvement on the first-order model, even for smaller mobile-phase ranges. Nevertheless both models showed a significant lack of fit, reflecting the incompleteness of these models. Therefore, it is very questionable whether this method is suitable to describe HPLC-column characteristics like hydrophobicity and hydrophylicity.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1612-4766
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Description / Table of Contents: Zusammenfassung Ein methanolischer Extrakt vonMelia azedarach-Früchten aus Griechenland wurde auf seine insektizide Wirkung bei Raupen zweier schädlicher Lepidopteren (S. littoralis undA. ipsilon) unter Laborbedingungen untersucht. Der Extrakt wurde zuvor mit Petrolether und Ethylacetat gereinigt. Für die Experimente wurden neben der Kontrolle Konzentrationen von 10, 15, 25, 50, 100 und 1000 ppm mit einer Diät verfüttert. Bei beiden Insektenarten sank die. Nahrungsaufnahme, die Gewichtszunahme und die Umwandlung der aufgenommenen Nahrung (ECI) in Biomasse mit zunehmender Extraktkonzentration in der Nahrung ab. Der Verbrauch der verdauten Nahrungsmenge (ECD) wurde mit höhererMelia-Extraktmenge graduell geringer. Sowohl bei den Raupen vonS. littoralis als auch beiA. ipsilon wurde ein gewisses Antifeedant-Verhalten beobachtet. Die Mortalität stieg mit erhöhterMelia-Konzentration in der Diät bei beiden Arten an. Mit Beginn des 3. Larvenstadiums wurde das Gewicht bei beiden Arten bis zur Verpuppung bei 25 ppm und höheren Konzentrationen signifikant reduziert, während die Larvalperiode verlängert wurde. Das Puppengewicht war signifkant niedriger, ween Diäten mit Konzentrationen von 15, 25 und 50 ppmMelia-Extrakt verabreicht wurden. Bei höheren Konzentrationen verpuppten sich die Larven nicht mehr. Die Puppenperiode wurde nur beiA. ipsilon beeinflußt. Alle die Rcproduktion betreffenden Parameter, wie Eiablagezeit, Fekundität, Fertilität und Lebenszeit der adulten Männchen und Weibchen, wurden beeinflußt, wenn die Larven mit Konzentrationen von 10, 15 und 25 ppmMelia-Extrakt aufwuchsen. BeiS. littoralis schlüpfte kein Falter, wenn die Raupen mit 50 ppm und mehr gefüttert wurden, und keine Larve schlüpfte aus Eiern, die von Weibchen abgelegt wurden, die als Larven 25 ppmMelia-Extrakt in der Diät erhielten. Bei beiden Arten war die Ovipositionszeit verkürzt, wenn ihnen 15 und 25 ppmMelia-Extrakt mit der Diät verabreicht wurden; die Fekundität und Fertilität waren stark reduziert, und die Lebenszeit war sowohl bei Männchen als auch bei Weibchen verkürzt. Querschnitte durch den Mitteldarm zeigten, daß bei Raupen beider Arten, die mit 100 ppmMelia-Extrakt in der Diät gefüttert wurden, das Darmepithel stark zerstört war, was als eine Ursache für die beobachteten Effekte angesehen wurde.
    Notes: Abstract Methanolic extract ofMelia azedarach fruits enriched by washing with petrolether and ethyl acetate was used for laboratory treatments of two lepidopteran pests in Egypt. The experiments were carried out with concentrations of 10, 15, 25, 50, 100 and 1000 ppm in a diet and compared with control insects. In both insects food consumption, weight gain and conversion of ingested food (ECI) in body matter decreased with increasing extract amounts. The conversion of digested food (ECD) was lowered gradually by using higher concentrations ofMelia extract. Some antifeedant activity was observed in larvae ofS. littoralis andA. ipsilon. The percentage of mortality increased with application of higher concentrations ofMelia extract in both species. Starting from 3rd larval instar the larvae of both species reduced significantly their weight until pupation in 25 ppm and higher extract concentrations, while the larval period was prolonged. The pupal weight was significantly reduced at 15, 25 and 50 ppm. At higher concentrations the larvae failed to pupate. Duration of pupal period was affected only inA. ipsilon. All reproduction parameters, as period of oviposition, fecundity, fertility and longevity of males and females were affected using emerged adults from treated larvae with concentrations of 10, 15 and 25 ppmMelia extract. InS. littoralis no adult emerged from pupae originated from larvae treated with 50 ppm and higher amounts and no larva hatched from eggs laid by adults treated with 25 ppmMelia concentration as larvae. In both species the oviposition period was shortened at 15 and 25 ppm extract, the fecundity and fertility were drastically reduced, and the longevity of males and females was reduced. Cross sections of the midgut showed that the epithelial cells are destroyed in both pests. This can be one of the reasons for the observed effects.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 0030-493X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: A fragmentation sequence typical for o-halobenzoic acids carrying a heteroatom substituent in the 5-position is described.
    Additional Material: 1 Tab.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 0030-493X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: A simple glow discharge source has been developed for chemical ionization with aggressive gases. Test results with NO as a reagent gas will be reported.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 0044-2313
    Keywords: monoplatinum nonagold cluster cluster ; monoplatinum dicobalt cluster ; monoplatinum tetragold cluster ; [(Ph3PAu)6(AuCl)3Pt(CO)] ; [(dppe)PtCo2(CO)7] ; [(Ph3PAu)4Pt(dppe)](PF6)2 ; synthesis ; photolysis of azido complexes ; crystal structure ; Chemistry ; Inorganic Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Cluster Synthesis by Photolysis of Azido Complexes of Platinum and Gold. Syntheses and Crystal Structures of [(Ph3PAu)6(AuCl)3Pt(CO)], [(dppe)PtCo2(CO)7] and [(Ph3PAu)4Pt(dppe)](PF6)2Photolysis of a mixture of Ph3PAuN3, Ph3PAuCl and (Ph3P)2Pt(N3)2 in THF yields after chromatographic separation with CH2Cl2/EtOH as eluens the cluster [(Ph3PAu)6(AuCl)3Pt(CO)] (1). It crystallizes in the triclinic space group P1 with the lattice parameters a = 2 139.3(4), b = 2 457.1(4), c = 2 561.9(1) pm, α = 79.74(9)°, β = 80.06(6)°, γ = 66.05(5)°, Z = 4. The nine gold atoms form a fragment of an icosahedron with the platinum atom in its center. Upon photolysis of (dppe)Pt(N3)2 with Co2(CO)8 in THF one m̈2-CO ligand of the cobalt carbonyl is substituted by a (dppe)Pt group. The resulting cluster [(dppe)PtCo2(CO)7] (2) crystallizes monoclinically in the space group P21/n with a = 1 303.9(3), b = 1 768.1(8), c = 1 461.4(4) pm, β = 102.81(1)°, Z = 4. Photolysis of 2 with excess Ph3PAuN3 affords the clusters [(Ph3PAu)4Pt(dppe)]2+ (3), and [(Ph3PAu)6AuCo2(CO)6]+. 3 crystallizes with PF6- as counterions in the triclinic space group P1 with a = 1 369.1(4), b = 1 505.0(4), c = 2 773.0(8) pm, α = 84.74(1)°, β = 87.37(2)°, γ = 65.94(2)°, Z = 2. The Au4Pt skeleton of 3 forms a trigonal bipyramid with the platinum atom in equatorial position.
    Notes: Die Photolyse einer Mischung von Ph3PAuN3, Ph3PAuCl und (Ph3P)2Pt(N3)2 in THF ergibt nach chromatographischer Reinigung mit CH2Cl2/EtOH als Eluens den Cluster [(Ph3PAu)6(AuCl)3Pt(CO)] (1). Er kristallisiert triklin in der Raumgruppe P1 mit den Gitterkonstanten: a = 2 139,3(4), b = 2 457,1(4), c = 2 561,9(1) pm, α = 79,74(9)°, β = 80,06(6)°, γ = 66,05(5)°, Z = 4. Die neun Goldatome bilden ein Ikosaederfragment, in dessen Zentrum sich das Pt-Atom befindet. Bei der Photolyse einer Mischung von (dppe)Pt(N3)2 mit Co2(CO)8 in THF wird ein m̈2-CO-Ligand des Cobaltcarbonyls durch eine (dppe)Pt-Gruppe substituiert. Der resultierende Cluster [(dppe)PtCo2(CO)7] (2) kristallisiert monoklin mit der Raumgruppe P21/n und a = 1 303,9(3), b = 1 768,1(8), c = 1 461,4(4) pm, β = 102,81(1)°, Z = 4. Die Photolyse von 2 mit überschüssigem Ph3PAuN3 führt auf die Cluster [(Ph3PAu)4Pt(dppe)]2+ (3) und [(Ph3PAu)6AuCo2(CO)6]+. 3 kristallisiert als PF6- -Salz in der triklinen Raumgruppe P1 mit a = 1 369,1(4), b = 1 505,0(4), c = 2 773,0(8) pm, α = 84,74(1)°, β = 87,37(2)°, γ = 65,94(2)°, Z = 2. Das Au4Pt-Gerüst von 3 bildet eine trigonale Bipyramide mit dem Pt-Atom in äquatorialer Position.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1434-6036
    Keywords: 74.25 ; 74.25 ; 76.80
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract 57Fe- and119Sn Mössbauer effect studies on 0.5 at %57Fe (or119Sn) dopednon-superconducting La1.25Nd0.6Sr0.15CuO4 in the temperature region 300 K ≧T≧4.2 K reveal an onset of local magnetic ordering occurring atT m ≅32 K for both57Fe—as well as119Sn-doped samples. The local magnetic ordering shows up in the presence of a very large transferred hyperfine field ofB thf ≅11.0(5)T at the119Sn nuclei. Since such a large field is neither present in antiferromagnetic La2CuO4, nor in superconducting La1.85Sr0.15CuO4 or overdoped La2−xSrxCuO4 (x=0.4), the occurrence of such local spin correlations seems to be a signature of the non-superconducting low temperature tetragonal phase of La1.25Nd0.6Sr0.15CuO4.
    Type of Medium: Electronic Resource
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