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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The syndrome of benign familial neonatal convulsions (BFNC) is a rare, autosomal dominant form of epilepsy. It is characterized by spontanous seizures beginning within the first 6 months of life. In the majority of families linkage is to chromosome 20q markers. Based on the linkage results in one large BFNC kindred, genetic heterogeneity and existence of a second locus on chromosome 8 have been suggested. Here we report on a second BFNC family in which linkage to the EBN1 locus on chromosome 20q was excluded, confirming the genetic heterogeneity of this disorder. All affected family members experienced onset of seizures before the age of 2 months. Three BFNC subjects showed subsequent epileptic seizures after 12 months of age, showing that the risk of subsequent epilepsy is not restricted to the chromosome 20q linked BFNC families. A lod score of 0.99 was obtained with the marker D8S274, suggesting linkage to chromosome 8.
    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 The studied phenotype, the low-voltage electroencephalogram (LVEEG), is characterized by the absence of an alpha rhythm from the resting EEG. In previous studies, evidence was found for a simple autosomal-dominant mode of inheritance of the LVEEG. Such a polymorphism in brain function can be used as a research model for the stepwise elucidation of the molecular mechanism involved in those aspects of neuronal activity that are reflected in the EEG. Linkage with the variable number of tandem repeats (VNTR) marker CMM6 (D20S19) and localization of an LVEEG (EEGV1) gene on 20q have previously been reported, and genetic heterogeneity has been demonstrated. This latter result has been corroborated by studing new marker (MS214). The phenotype of the LVEEG is described here in greater detail. Its main characteristic is the absence of rhythmic alpha activity, especially in occipital leads, whereas other wave forms such as beta or theta waves may be present. Analysis of 17 new families (some of them large), together with 60 previously described nuclear families, supports the genetic hypothesis of an autosomal-dominant mode of inheritance. Problems connected with the analysis of linkage heterogeneity, exclusion mapping, and the study of multipoint linkage are discussed. A possible explanation of the localization of LVEEG in the close vicinity of another gene influencing synchronization of the normal EEG, the gene for benign neonatal epilepsie, is given.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 129-137 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We present an overview of the variety of databases and programs that offer substantial aid to medical and molecular geneticists. Databases and expert systems for genetic diseases and birth defects, programs for segregation and linkage analysis, certain DNA and protein sequence databases, and information resources in general for molecular biology are addressed. These systems cannot be used effectively without the newly developed techniques of information exchange based on international computer networks. A short introduction is given to the Internet and to European institutions and organizations that offer help with the aquisition and use of bioinformatic resources.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Comparative genomic hybridization (CGH) has proven to be a comprehensive new tool to detect genetic imbalances in genomic DNA. However, the resolution of this method carried out on normal human metaphase spreads is limited to low copy number gains and losses of ≥ 10 Mb. An improved resolution allowing the detection of copy number representations of single genes would strongly enhance the applicability of CGH as a diagnostic and research tool. This goal may be achieved when metaphase chromosomes are replaced by an array of target DNAs representing the genes of interest. To explore the feasibility of such a development in a model system we used cosmid MA2B3, which encompasses about 35 kb in the vicinity of exon 48 of the human dystrophin gene. Linearized cosmid fibers were attached to a glass surface and aligned in parallel by “molecular combing”. Two-color fluorescence in situ suppression hybridization was performed on these cosmid fibers with probe mixtures containing different ratios (ranging from 1:2 to 4:1) of biotin- and digoxigenin-labeled MA2B3 cosmid DNAs. For each mixture fluorescence ratios were determined for 40–50 individual combed DNA molecules. In two series comprising a total of 651 molecules the median fluorescence ratio measurements revealed a linear relationship with the chosen probe ratios. Our study demonstrates that fluorescence ratio measurements on single DNA molecules can be performed successfully.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of food science 42 (1977), S. 0 
    ISSN: 1750-3841
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Results of tests made on 253 porcine muscles showed that 1 hr after death PSE and DFD muscles contain low levels of adenosine triphosphate (ATP) and high levels of inosine monophosphate while in normal muscles high concentrations of ATP and low amounts of inosine monophosphate are observed. The deamination of the adenine moiety can be measured by the changes in the absorption ratio at 250 and 260 nm. This ratio (called R) amounts to 0.78–0.80 for pure adenine nucleotide solutions and to 1.68–1.70 for pure inosine monophosphate and inosine in aqueous solutions at neutral pH. Preparation of acidic extract of muscles containing the nucleotides and the measurement of the 250/260 nm ratio of absorbances is a fast procedure: 3–4 min after receiving the sample the R values can be calculated. Together with pH1 the R value allows a very reliable differentiation of normal, PSE and DFD muscles.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European food research and technology 171 (1980), S. 105-110 
    ISSN: 1438-2385
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Description / Table of Contents: Zusammenfassung Da schlachtwarmes Rindfleisch (Muskel vor Eintritt desRigor mortis), das dank seines hohen Wasserbindungsvermögens für die Brühwurstherstellung hervorragend geeignet ist, oft nicht sofort verarbeitet werden kann, bietet sich zur Aufrechterhaltung der guten Verarbeitungsqualität Zerkleinern unmittelbar nach der Schlachtung und rasches Einfrieren mit oder ohne Kochsalzzusatz an. Um die optimalen Einfrierbedingungen zu ermitteln, werden Stückfleisch, zerkleinertes Fleisch und zerkleinertes und gesalzenes (2% NaCI) Fleisch (Nackenmuskeln) 30 bis 60 min nach dem Schlachten bei Einfriertemperaturen zwischen -6° and - 70°C eingefroren und der Einfluß der Gefriergeschwindigkeit auf den Muskelstoffwechsel und auf das WBV von rohen und erhitzten Muskelhomogenaten (2% NaCI) untersucht. Mit abnehmender Einfriergeschwindigkeit nehmen der Umsatz von Adenosintriphosphat (ATP) and die Geschwindigkeit des pH-Abfalls im Gewebe zu. Im zerkleinerten Fleisch gehen ATP-Abbau and Glykolyse rascher vonstatten als im intakten Gewebe. Zusatz von NaCl verlangsamt die Glykolyse and beschleunigt die Abnahme der ATP-Konzentration. Homogenisiert manprae rigor ohne NaCI-Zusatz eingefrorenes Fleisch mit 50% Wasser unter NaCI-Zugabe (2% NaCl im Homogenat), so bleibt das hohe WBV des schlachtfrischen Materials erhalten, solange nicht während des Kühl- und Gefrierprozesses eine ATP-Konzentration und ein pH-Wert erreicht werden, bei welchenRigor mortis eintritt; dies ist his zu Gefriergeschwindigkeiten von 0,05°C/min im kritischen Temperaturbereich zwischen +10 °C and -1 °C der Fall. Bei einer Geschwindigkeit von 0,02 °C/min jedoch, bei welcher derRigor vor Gefrieren eintritt, kommt es zu einer starken Abnahme des WBV der Homogenate. Wird hingegen das schlachtwarme Fleisch vor dem Einfreiren zerkleinert und gezalzen, dann weisen die aus diesem material Hergestellten Homogenate (2% NaCl) unabhängig von der Einfriergeschwindigkeit stet hohes WBV auf.
    Notes: Summary The high water-holding capacity (WHC) of prerigor beef, which is of advantage for the production of “bruehwurst” (frankfurter and bologna type sausages), can be preserved by mincing and rapid freezing without or with added salt. For the elucidation of the optimum conditions for freezing, pieces of beef, minced beef, and minced and salted (2% NaCI) beef were frozen 30–60 min after slaughter at various temperatures between -6°C and -70°C. The influence of freezing rate on muscle metabolism and on WHC of raw and heated muscle homogenates containing 2% NaCl was studied. With decreasing velocity of freezing the turnover of adenosine triphosphate and the rate of pH drop increases. In minced meat, ATP breakdown and glycolysis occur faster than in the intact tissue. Addition of salt retards glycolysis but accelerates the decrease of ATP concentration. If prerigor beef, frozen without added NaCl, is homogenized with 50% water and NaCl to a final concentration of 2%, the high WHC of the slaughter-fresh tissue is maintained as long as during the process of cooling and freezing the ATP concentration and pH are not reached at whichrigor mortis occurs: this is the case at freezing rates down to 0.05 °C/min in the critical temperature range between +10° and -1°C. At a freezing rate of 0.02 °C/min, however, at which rigor mortis occurs before freezing, the WHC of the homogenate prepared from this material is strongly lowered. With prerigor beef, minced and salted before freezing, homogenates with high WHC are always obtained no matter at which rate the material was frozen.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European food research and technology 171 (1980), S. 200-205 
    ISSN: 1438-2385
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Description / Table of Contents: Zusammenfassung Schlachtwarmes Rindfleisch (Muskelgewebe vor Eintritt des Rigor mortis) ist wegen seines hervorragenden Wasserbindungsvermögens (WBV) für die Verarbeitung zu Brühwursterzeugnissen gut geeignet. Dieses hohe WBV kann durch rasches Einfrierenprae rigor ohne oder mit Zusatz von Kochsalz und anschließende Gefrierlagerung für längere Dauer aufrecht erhalten wurden. Um festzustellen, unter welchen Bedingungen die Gefrierlagerung erfolgen muß, ohne daß es zu einer Verminderung des WBV kommt, wurden Stückfleisch, zerkleinertes Fleisch sowie zerkleinertes und gesalzenes (2% NaCl) Fleisch (Nackenmuskulatur) 30 bis 60 min nach der Schlachlung in dünner Schicht (0,5–1 cm) bei −18° und −40 °C eingefroren und bei verschiedenen Temperaturen zwischen −5° and −40°C gefriergelagert. Die Veränderungen der biochemischen Parameter (Glykogen-und Lactatgehalt, R-Wert (entspricht ATP-Konzentration), pH-Wert] des Fleisches und des WBV der aus dem gefrorenen Material hergestellten rohen und erhitzten Modellbräte (Muskelhomogenate mit 2% NaCl) wurden in Abhängigkeit von Dauer und Temperatur der Gefrierlagerung gemessen. Bei Lagertemperaturen von −18° and −40 °C finden im Laufe von 10 Monaten keine wesentlichen biochemischen Veränderungen im Stückfleisch und im zerkleinerten Fleisch statt. Oberhalb von −18 °C nimmt mit steigender Gefriertemperatur die Geschwindigkeit von Adenosintriphosphat(ATP)-Umsatz und Glykolyse zu. Allgemein ist in zerkleinertem Fleisch eine stärkere Stoffwechselaktivität zu beobachten als im Stückfleisch. Inprae rigor gesalzenem und gefrorenem Fleisch ist bei den einzelnen Lagertemperaturen die ATP-Abnahme (Anstieg des R-Wertes) erheblich beschleunigt, der Abbau von Glykogen zu Lactat hingegen gehemmt. Das WBV der rohen and erhitzten Modellbräte wird von Dauer und Temperatur der Gefrierlagerung beeinflußt. Sobald im Stückfleisch bzw. in zerkleinertem, ungesalzenen Fleisch eine ATP-Konzentration erreicht ist, bei welcher Rigor mortis eintritt, kommt es zu einer drastischen Verminderung des WBV in den aus dem gefrorenen Material hergestellten Modellbräten. Fleisch, dasprae rigor vor dem Einfrieren zerkleinert und gesalzen wurde, ergibt jedoch auch dann Modellbräte mit hohem WBV, wenn ATP während der Gefrierlagerung weitgehend abgebaut wurde. Aus diesen Resultaten ergeben sich praktische Konsequenzen für die Verarbeitung von schlachtwarm entbeintem Rindfleisch.
    Notes: Summary Prerigor beef is very suitable for the production of “bruehwurst” (frankfurter and bologna type sausages) because of its high waterholding capacity (WHC). This high WHC can be preserved for several months by rapid freezing of prerigor beef either unsalted or salted. In order to elucidate the optimum conditions of frozen storage for the preservation of high WHC, intact beef muscle, ground beef and ground, salted (2% NaCl) beef (neck muscles) were frozen at −18° or −40 °C in a thin layer (0.5–1 cm) 30–60 min after slaugther and stored at various temperatures between −5° and −40 °C. The changes of biochemical parameters (content of glycogen and lactate, R-value [it corresponds to ATP concentration] and pH) in the tissue and the WHC of raw and heated muscle homogenates, prepared from the frozen material and containing 2% NaCl, were measured and related to time and temperature of frozen storage. At storage temperatures of −18° and −40 °C no appreciable biochemical changes occur in intact and ground, unsalted tissue over a period of 10 months. Above 18 °C, however, rising temperature causes an increased rate of ATP turnover and glycolysis. In ground muscle higher rates of postmortem metabolism are generally found than in the intact tissue. In prerigor salted and frozen beef a faster drop of ATP concentration (increase of R-value) occurs whereas the breakdown of glycogen to lactate is inhibited. The WHC of raw and heated muscle homogenates depends on time and temperature of frozen storage. As soon as the ATP concentration in unsalted beef falls to a level, at which the onset of rigor mortis occurs, the WHC of homogenates decreases markedly. With beef, ground and salted in the prerigor state and than frozen, muscle homogenates are obtained which show always a high WHC even after complete breakdown of ATP during frozen storage. These results have practical consequences with regard to processing of hot-deboned beef.
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  • 8
    ISSN: 1438-2385
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Description / Table of Contents: Zusammenfassung Durch Salzen von schlachtwarmen Rindfleisch ist es möglich, dasprae rigor bestehende hohe Wasserbindungsvermogen für längere Dauer aufrechtzuerhalten. Um festzustellen, welche Konzentrationen an NaCl dazu benötigt werden, wurde 30 min nach der Schlachtung zu zerkleinertem Rindfleisch (M. sternomandibularis) Kochsalz in verschiedenen Konzentrationen (0,1–2,1%) zugesetzt and die biochemischen postmortalen Veranderungen, das Wasserbindungsvermögen in Muskelhomogenaten nit einer auf 2% eingestellten Kochsalzkonzentration, die Sarkomerenlänge und die Qualität von aus solchem Fleisch 24 Std nach Salzzusatz hergestellten Brühwürsten untersucht. Die Temperatur der Lagerungpost mortem betrug +1,5°C. Mit steigender Kochsalzkonzentration im Fleisch war eine Verlangsamung des pH-Wert-Abfalls und eine geringfiigige Beschleunigung der Abnahme der ATP-Konzentration bzw. des R-Wert-Anstiegs verbunden. Der ATP-Umsatz nahm nit steigendem NaCl-Gehalt ab. Die in den Kontrollproben durch die Lagerung bei +1,5°C erfolgte Kältekon-traktur konnte durch vor der Abkühlung zugesetztes NaCl verhindert werden. Wurde dagegen Kochsalz in einer Konzentration von 2% erst nach erfolgter Kälte-kontraktur-aber vor Eintritt desRigor mortis — den zerkleinerten Fleisch zugemischt, so veränderte sich die Länge der verkürzten Sarkomeren bei gleichbleibender Temperatur um 0°C nur wenig. Das Wasserbindungsvermögen in Muskelhomogenaten war 24 Std nach Zusatz des Kochsalzes in den Kontrollproben ohne Salz stark verringert; durch zunehmenden Kochsalzzusatz zum schlachtwarmen Fleisch konnte das Wasserbindungsvermogen (24 Std nach Salzen) schrittweise gesteigert werden. Mit steigendem NaCl-Zusatz zum schlachtwarmen Fleisch nahm entsprechend der Gelee-absatz von Brühwurstbräten kontinuierlich ab (der NaCl-Gehalt der Bräte war stets der gleiche).
    Notes: Summary By salting of pre-rigor (warm) beef it is possible to maintain the high water-holding capacity (WHC) of the prerigor muscle for several days. In order to find the concentration of salt necessary to obtain this effect, 30 min postmortem different amounts of NaCl between 0.1 and 2.1% were added to the ground muscle (M. sternomandibularis). In these salted muscle mixtures the biochemical changes postmortem and the sarcomere length were measured. With parts of these samples alsohomogenates with a final NaCl concentration of 2% were prepared. At different times post mortem WHC was measured. After 24 h Brühwürste (frankfurter type sausages) were manufactured and tested. The temperature of storage post mortem was +1.5°C for all muscle samples. Increasing concentrations of NaCl added to the ground prerigor muscle, slowed the drop in pH postmortem accompanied by a slightly accelerated decrease of the ATP concentration. The sarcomeres in unsalted muscle shortened upon storage at +1.5 °C due to cold shortening which was prevented by increasing concentrations of salt. If salt (2%) was added to the ground prerigor muscle held at +1.5°C after the shortening had occurred — but still before the onset of riger mortis — no increase in sarcomere length due to the action of salt was observed. The WHC in homogenates of muscle held for 24 h without salt was poor. Increasing concentrations of salt added to ground muscle within one hour post mortem enhanced the water-holding capacity of muscle homogenates after 24 h more or less linear to the salt concentration. Increasing concentrations of salt added to ground muscle early postmortem decreased the amount of gel released from the Brühwurst.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Naunyn-Schmiedeberg's archives of pharmacology 326 (1984), S. 278-282 
    ISSN: 1432-1912
    Keywords: 5-Aminosalicylic acid ; Kidney function ; Urinary excretion ; Rats ; Patients
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In rat experiments and a clinical trial we have examined the suspected nephrotoxic potential of 5-amino-salicylic acid (5-ASA), the biological active metabolite of sulfasalazine (SZ). Male Wistar rats were treated orally for 4 weeks daily with 30 and 200 mg 5-ASA/kg and 75 and 500 mg SZ/kg. The two renal marker enzymes N-acetyl-β-D-glucosaminidase (NAG; EC 3.2.1.30), alanineaminopeptidase (AAP; EC 3.4.11.2) and creatinine were monitored in urine. At the end of the experiment rats were sacrificed, the removed kidneys histologically examined and drugs, their metabolites and creatinine measured in plasma and urine. In 9 patients treated chronically for their Crohn's disease with 3×0.5 g 5-ASA daily in form of suppositories and an oral preparation urinary excretions of NAG, AAP and serum creatinine were also monitored before and during therapy. Neither the animal experiments nor the observations in patients gave any evidence of nephrotoxic lesions induced by 5-ASA. Thus, our data show that in the doses applied, 5-ASA was devoid of altering renal excretion in rats and man.
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mutant in a family with autosomal-dominant spastic paresis in Northern Tibet was mapped by linkage analysis with several microsatellite markers to a gene locus at 14q11.2–q24.3, an area to which a few mutants leading to a condition with similar clinical signs have previously been mapped. The mutant observed in this pedigree probably arose de novo. Gene loci at 2p21– p24 and 15q, which have been found for other pedigrees with dominant spastic paresis, were excluded. The data in this pedigree do not contradict the hypothesis proposed by another group that there might be anticipation.
    Type of Medium: Electronic Resource
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