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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 574-576 
    ISSN: 1432-1076
    Keywords: Fructose-1,6-diphosphatase deficiency ; Gluconeogenesis ; Hypoglycaemia ; Neonatal hyperbilirubinaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Key words: Hereditary metabolic disorders – Selective screening – Collaborative study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Since the early 1970s selective screening for inherited metabolic disorders has been performed in larger childrens hospitals or metabolic centres of the former East-Germany. As a rule the following methods were employed: initially paper chromatography, drop, dip and spot tests, later on thin-layer chromatography and more recently enzyme analysis, gas chromatography, mass spectrometry and HPLC. Normally urine, blood or leucocytes were investigated. The diagnoses were confirmed in metabolic centres in Greifswald, Berlin or Leipzig or in collaboration with specialized laboratories abroad. About 130 000 subjects from former East Germany as well as from different East European countries were investigated, of which 365 patients were diagnosed and classified into roughly 40 various metabolic diseases. The proportion of positive diagnoses was 1 in 400.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Hereditary metabolic disorders ; Selective screening ; Collaborative study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Since the early 1970s selective screening for inherited metabolic disorders has been performed in larger childrens hospitals or metabolic centres of the former East-Germany. As a rule the following methods were employed: initially paper chromatography, drop, dip and spot tests, later on thin-layer chromatography and more recently enzyme analysis, gas chromatography, mass spectrometry and HPLC. Normally urine, blood or leucocytes were investigated. The diagnoses were confirmed in metabolic centres in Greifswald, Berlin or Leipzig or in collaboration with specialized laboratories abroad. About 130000 subjects from former East Germany as well as from different East European countries were investigated, of which 365 patients were diagnosed and classified into roughly 40 various metabolic diseases. The proportion of positive diagnoses was 1 in 400.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Hyperphenylalaninaemia ; Phenylalanine levels ; Treatment recommendations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation. There is consensus that, for an optimal outcome, treatment should start as early as possible, and that strict blood Phe level control is of primary importance during the first years of life, but for adolescent and adult patients international treatment recommendations show a great variability. A working party of the German Working Group for Metabolic Diseases has evaluated research results on IQ data, speech development, behavioural problems, educational progress, neuropsychological results, electroencephalography, magnetic resonance imaging, and clinical neurology. Based on the actual knowledge, recommendations were formulated with regard to indication of treatment, differential diagnosis, and Phe level control during different age periods. The development of the early-and-strictly-treated patient in middle and late adulthood still remains to be investigated. Therefore, the recommendations should be regarded as provisional and subject to future research. Efficient treatment of phenylketonuria has to go beyond recommendations for blood Phe level control and must include adequate dietary training, medical as well as psychological counselling of the patient and his family, and a protocol for monitoring outcome. Conclusions Early-and-strictly-treated patients with phenylketonuria show an almost normal development. During the first 10 years treatment should aim at blood Phenyl-alanine levels between 40 and 240 μmol/L. After the age of 10, blood phenylalanine level control can be gradually relaxed. For reasons of possible unknown late sequelae, all patients should be followed up life-long.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Infection 7 (1979), S. 183-186 
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The authors report on an infant with meningitis caused byPasteurella multocida. The problems of aetiology, diagnosis, and therapy of these infections are discussed with reference to this patient and other cases ofP. multocida infection.
    Notes: Zusammenfassung Die Autoren berichten über einen Säugling mit einer Meningitis durchPasteurella multocida. Ausgehend von dieser Erkrankung sowie von weiteren Fällen vonP. multocida-Infektionen wird auf die Besonderheiten der Ätiologie, Diagnostik und Therapie dieser Erkrankungen eingegangen.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Monatsschrift Kinderheilkunde 148 (2000), S. 494-495 
    ISSN: 1433-0474
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Monatsschrift Kinderheilkunde 148 (2000), S. 1102-1103 
    ISSN: 1433-0474
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kinderärztlicher Nofalldienst ; Universitätskinderpoliklinik ; Vernetzte Praxen ; Qualitätssicherung ; Key words Pediatric emergency treatment ; University pediatric outpatient department ; Network of outpatient departments ; Quality management
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background: Pediatric emergency outpatient care system was evaluated. Methods: From February to July 1998 prospective data on 3,890 patients with acute illness, admitted to the emergency department of the Children's Hospital of the University of Leipzig, were collected with respect to the weekday, hour of the day, nationality, insurance status, cause of presentation, family doctor, living area, examination scale, and diagnosis. Results: For workdays we found no change in frequency, whereas at weekends in the second half of our registration period significantly fewer patients were presented. On Wednesdays and Fridays more patients were presented than on other workdays. Two-thirds of the patients were up to 6 years old. The diagnostic spectrum includes 49.8% infections of airways and the middle ear, 13.4% unspecific symptoms, 9.8% acute enteritis, 3.7% ingestions, and 23.2% miscellaneous diseases. In 11%, clinic admission was necessary. All children were insured, 96.3% with legal health insurance, 2.8% by private insurance, 0.9% via social welfare. There were 3.8% foreign children. Conclusion: The results can help plan emergency care as part of teaching and research programs. Our data can also be useful for planning and evaluation for practitioners working in an emergency department of a pediatric clinic. In addition and most importantly, the advantages of a well known medical center for children and adolescents in a city of about 500,000 inhabitants with regard to financial resources and quality of care are documented and emphasized.
    Notes: Zusammenfassung Hintergrund: Es soll die Evaluation eines kinderärztlichen Notfalldiensts vorgelegt werden, die bisher in der Literatur nicht zu finden ist. Methode: Von Februar bis Juli 1998 wurden von den 3890 im Notfalldienst der Universitätskinderpoliklinik Leipzig vorgestellten Kindern prospektiv Vorstellungstag, Vorstellungszeit, Alter, Nationalität, Versicherungsstatus, Vorstellungsgrund, Hausarzt, Wohnregion, Untersuchungsumfang und Diagnose erfasst. Ergebnisse: An den Wochentagen änderte sich im Erfassungszeitraum die Vorstellungsfrequenz nicht, während die Wochenenden in der 2. Hälfte dieses Zeitraums signifikant weniger frequentiert wurden als in der ersten. Mittwochs lagen die Zahlen tendenziell und freitags signifikant über denen der anderen Werktage. 2/3 der Kinder waren bis zu 6 Jahre alt. Das Diagnosespektrum lautete: 49,8% Infekte der Atemwege und des Mittelohrs, 13,4% Symptome, die nicht zu einer Diagnose führten, 9,8% akute Durchfälle, 3,7% Ingestionen, 23,2% sonstige Erkrankungen ohne besondere Häufungen. Eine stationäre Aufnahme war bei 11% der Kinder erforderlich. Gesetzlich versichert waren 96,3%, privat 2,8%, über das Sozialamt 0,9%. Der Anteil von Kindern ausländischer Eltern betrug 3,8%. Schlussfolgerungen: Die Ergebnisse können als Grundlage für die Einbeziehung des Notfalldiensts in Lehre und Forschung und für die Planung der Tätigkeit von niedergelassenen Kinderärzten in der Notfallambulanz einer Klinik dienen. Sie weisen auf die Bedeutung eines über Jahre bekannten pädiatrischen Notfallzentrums in einem großstädischen Ballungsgebiet hin.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 514-516 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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