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  • 1
    Abstract: Systemic primary carnitine deficiency (CDSP, MIM 212140) is a disorder of fatty acid oxidation manifesting in acute metabolic decompensation or in progressive cardiomyopathy and muscle weakness. Mutations in the plasmalemmal organic cation/carnitine transporter OCTN2 were recently identified in CDSP patients of diverse ethnic backgrounds. We have performed OCTN2 mutation analysis in two unrelated German patients with primary carnitine deficiency and identified three molecular abnormalities. On one of the four chromosomes analyzed, we detected an Arg169Gln missense mutation that affects an arginine residue absolutely conserved in the entire transporter superfamily to which OCTN2 belongs. On the three other chromosomes, we found an Arg282ter nonsense mutation in exon 5. This mutation is embedded into different haplotypes of closely spaced intragenic dimorphisms in our two patients and was recently described in a patient of Asiatic Indian background, so it appears to be a recurrent or ancient founder mutation that may account for more CDSP cases. Finally, we found that the Arg282ter nonsense mutation is associated with a splicing abnormality at the intron 6/exon 7 junction. However, no mutations are present in exon 6, intron 6, or exon 7, suggesting that defective splicing of exon 7 on the Arg282ter allele is due to an unconventional, long-distance mechanism.
    Type of Publication: Journal article published
    PubMed ID: 10425211
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  • 2
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    German Medical Science; Düsseldorf, Köln
    In:  Patientenbeteiligung bei medizinischen Entscheidungen; 2. Tagung des Förderschwerpunktes "Der Patient als Partner im medizinischen Entscheidungsprozess"; 20040325-20040327; Freiburg; DOC04pat17 /20040615/
    Publication Date: 2004-06-15
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 3
    facet.materialart.
    facet.materialart.
    German Medical Science; Düsseldorf, Köln
    In:  Patientenbeteiligung bei medizinischen Entscheidungen; 2. Tagung des Förderschwerpunktes "Der Patient als Partner im medizinischen Entscheidungsprozess"; 20040325-20040327; Freiburg; DOC04pat16 /20040615/
    Publication Date: 2004-06-15
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 4
    ISSN: 0378-1119
    Keywords: E coli host ; Recombinant DNA ; plasmid DNA ; protoxin ; toxin gene
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia, hyperammonemia, and failure to thrive. This form of carnitine deficiency is caused by a defect in the active cellular uptake of carnitine, and the gene encoding the high affinity carnitine transporter OCTN2 has recently been shown to be mutated in patients suffering from this disorder. Here, we report the underlying molecular defect in three unrelated patients. Two patients were homozygous for the same missense mutation 632A→G, which changes the tyrosine at amino acid position 211 into a cysteine (Y211C). The third patient was homozygous for a nonsense mutation, 844C→T, which converts the arginine at amino acid position 282 into a stop codon (R282X). Reintroduction of wild-type OCTN2 cDNA into fibroblasts of the three patients by transient transfection restored the cellular carnitine uptake, confirming that mutations in OCTN2 are the cause of systemic carnitine deficiency.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Galactosaemia ; Physical development ; Intelligence quotient ; Galactose-1-phosphate ; UDP-galactose
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n=6), intention tremor (n=11) and microcephaly (n=10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n=5) had normal mental and growth development and all laboratory parameters were in the normal range. The cause of the unsatisfactory outcome of well-treated galactosaemic patients with disturbances in long-term development remains unclear. This could be due to a chronic intoxication of galactose metabolites or a deficiency of UDP-galactose or galactose-containing glycoproteins or glycolipids.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. S50 
    ISSN: 1432-1076
    Keywords: Galactitol ; Galactose ; Classical galactosemia ; Compound heterozygote ; Dietary treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000–69 000 mmol/mol creatinine; controls 3–81) which did not correlate with galactose excretion. After treatment, galactose excretion returned to normal in all patients whereas galactitol excretion (45–900 mmol/mol creatinine) remained above the age-matched control range. The excretion of galactitol (96–170 mmol/mol creatinine) in untreated compound heterozygotes was much lower although still above the age-matched control levels, and it returned to normal after treatment. In untreated classical galactosemia patients the galactitol in plasma (120–500 μmol/l) was markedly elevated (controls 0.08–0.86 μmol/l); under treatment, the galactitol concentrations (4.7–20 μmol/l) remained above the control range in all. There was no correlation with age nor with galactose-1-phosphate and UDP-galactose levels. Two untreated compound heterozygotes had elevated plasma galactitol (6.0 and 63 μmol/l) which, when treated, returned to normal.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Harnstoffzyklusdefekte ; Hämodialyse ; Peritonealdialyse ; Benzoat ; Phenylbutyrat ; Key words Urea cycle defects ; Hemodialysis ; Peritoneal dialysis ; Benzoate ; Phenylbutyrate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background: Clinical courses of eight patients with urea cycle disorders (deficiencies of carbamylphosphate-synthetase (4), argininosuccinate-synthetase (2) and argininosuccinate-lyase (2) ) are described. Methods/Therapy: Emergency treatment consisted of benzoate and arginine i. v. as well as peritoneal dialysis and/or modified hemodialysis. Chronic treatment comprised a low-protein diet and substitution of essential amino acids, of benzoate or phenylbutyrate and of branched-chain amino acids. Results: Within 72 hours after birth hyperammonemic coma with cerebral edema developed, leading to developmental retardation later in life. Four patients died between 2 weeks and 4 years of age. During follow-up, all patients suffered hyperammonemic derangements treated conservatively. Phenylbutyrate had less gastrointestinal side-effects than benzoate, branched-chain amino acids had favourable effects. One patient was treated conservatively since birth followed by a normal development. Conclusions: Neonatal respiratory distress with alkalosis and rapid global deterioration should raise the suspicion of a urea cycle disorder. Specific therapy as described can be life-saving, although most children exhibit marked developmental delay. Long-term prognosis is poor. Sodium phenylbutyrate has fewer side-effects than sodium benzoate. Therapy prior to cerebral edema can prevent complications.
    Notes: Zusammenfassung Fragestellung: Es werden die Verläufe von 8 Patienten mit Störungen der Harnstoffsynthese [Carbamylphosphatsynthetasemangel (4), Citrullinämie (2) und Argininosuccinatlyasemangel (2) ] beschrieben. Methode/Therapieprinzipien: Akuttherapie: Na-Benzoat und Arginin i. v., dazu Peritonealdialyse und/oder Hämodiafiltration. Lanfristige Therapie: proteinreduzierte Ernährung, Substitution essentieller Aminosäuren, Na-Benzoat bzw. Na-Phenylbutyrat oral, Substitution von verzweigtkettigen Aminosäuren. Ergebnisse: Spätestens 3 Tage post partum entwickelte sich nach initialer Alkalose ein hyperammonämisches Koma mit Hirnödem, das zu deutlichen Residualschäden führte. Vier Patienten verstarben zwischen der 2. Lebenswoche und dem 4. Lebensjahr aus unterschiedlichen Gründen. Hyperammonämien traten bei allen Patienten auf und ließen sich konservativ beherrschen. Na-Phenylbutyrat verursachte weniger gastrointestinale Nebenwirkungen als Na-Benzoat, verzweigtkettige Aminosäuren hatten einen positiven Effekt. Ein Patient wurde vom 1. Lebenstag an medikamentös behandelt, die Entwicklung verlief altersgerecht. Schlußfolgerung: Die Symptome Alkalose, respiratorische Insuffizienz und eine schnelle Verschlechterung des Allgemeinzustands bei Neugeborenen sollten an einen Harnstoffzyklusdefekt denken lassen. Medikamentöse Therapie und die Kombination aus Peritoneal- und Hämodiafiltration sind primär lebenserhaltend. Deutliche Residualschäden sind die Regel, die Überlebensprognose ist eingeschränkt. Na-Phenylbutyrat hat weniger Nebenwirkungen als Na-Benzoat. Therapiebeginn vor dem neonatalen Hirnödem kann Komplikationen verhindern.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1600-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract No formal analyses comparing the treatment alternatives of replacing a failed amalgam with either another amalgam or crown have been done to determine the optimum treatment strategy based on lifetime costs to the patient. Using decision analysis, a computer model was developed of the lifetime restorative needs of an adult's posterior tooth. A cost-effectiveness analysis of large amalgams vs crowns was then done to determine the optimum strategy. According to the analyses, the optimum treatment decision is to attempt to replace the failed first amalgam with another amalgam, instead of with a crown. When this amalgam restoration fails, then the subsequent replacement may be with a crown. Potential lifetime cost savings were between 11% and 24% if the first replacement was an amalgam. This study concludes that the technique of decision analysis provides the dental community with an effective evaluation tool for the study of clinical decision-making, taking into account all levels of clinical uncertainty.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: Measurements were performed to characterize the voltages induced in the PBX-M passive plate stabilizing shell during high-β plasmas. The design, calibration, and testing procedures are discussed. The initial measurements found that the largest induced voltages were observed at plasma startup and at the plasma current disruption and exhibited characteristics depending on operating conditions. The highest voltages observed have been at disruption and were less than 2 kV.
    Type of Medium: Electronic Resource
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