-
[show abstract]
[hide abstract]
ABSTRACT: Phenylketonuria (PKU) is an important error of amino acid metabolism which results in most patients from phenylalanine hydroxylase (PAH) deficiency. PKU displays a marked genotypic heterogeneity both within and between different populations. The aim of this study was to establish the genotypic spectrum of PKU in eastern Germany, and to compare this to the distribution of mutations in western Germany. The study population included 302 patients in 290 families who were followed at treatment centers in Berlin, Leipzig and Jena. The study showed marked genotypic variability with a total of 75 mutations, including 15 that have so far not been described (eleven missense mutations, one splicing mutation, and three small deletions). One of these novel mutations, E183Q, occurred in cis to a R408W mutation. In the non-immigrant eastern German population, the frequency of R408W accounted for 40.1% of the PKU alleles. In the immigrant Turkish population of the former West Berlin, the most prevalent mutation was IVS10-11G>A (57%). There was a marked difference of the genotypic spectrum between the population studied here and the data reported from the western part of the country.
Human Mutation 02/2000; 15(3):254-60. · 5.69 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Postnatal adaptation should be associated with changes in cardiac rhythmic behavior. To examine the development of heart rate variability, instantaneous heart rate (IHR) and the corresponding breathing signals of 16 healthy infants were analyzed. This was pursued by use of fast Fourier transformation beginning with the 1st day until the 6th mo of life. Power in the low-frequency range (LF, 0.02-0.2 Hz) and high-frequency range (HF, 0.2-1.5 Hz), total power (TP), the quotient LF/HF, and the frequency of the peak in LF and HF (LFF and HFF, respectively) were derived from the IHR spectrum. The peak frequency in HF (RF) was detected in the respiratory spectrum. Power and frequency of IHR rhythms undergo a marked development. TP, LF, and HF are lowest from the end of the 1st mo until the 2nd mo. LF predominates over HF, with LF/HF reaching its peak during 1- to 2-mo period. HF, recording respiratory related rhythms is negatively correlated with the breathing rate (BR). HFF and RF both show an increasing tendency during the 1st mo followed by a decrease down to the 6th mo. However, HFF is lower than RF if BR is high, mainly during the first 2 mo. The distinct changes in BR and its important influence on the IHR spectrum underscore the importance of monitoring respiration as a further measure in the diagnosis of infants. LFF is on average between 0.075 and 0.095 Hz, exhibiting an irregular course with minimum at the 10th, 21st-28th, and 90th day being apparent. The developmental pattern of LFF may by interpreted in terms of the maturation of the nervous system involved in the generation of circulatory rhythms.
The American journal of physiology 11/1996; 271(4 Pt 2):R1025-32.
-
[show abstract]
[hide abstract]
ABSTRACT: Early detection of fetal malformations has become possible owing to the availability of highly advanced ultrasound systems. Majority of malformations, 30 per cent, has been recordable from urinary system. This system is early of access for the examiner, so that even sophisticated diagnosis of malformation is possible. High accuracy diagnosis has been increasingly helpful in forecasting pregnancy prognosis. Hence, with adequate perinatological management, it will be possible to influence on perinatal morbidity and mortality positively. 70 fetuses with malformations of kidneys and to urinary system have been observed in the context of this study. An assessment was made of diagnostic efficiency, postpartum development and long-range prognosis. Recommendations are derived from the above mentioned findings for perinatological approach in cases of diagnosed malformations of kidneys and the other urinary system.
Zentralblatt für Gynäkologie 02/1989; 111(10):669-77.
-
[show abstract]
[hide abstract]
ABSTRACT: The article describes a method for the quantification of plasma fibronectin (FN) by means of electroimmunodiffusion after Laurell. By this means the fibronectin concentrations of healthy, mature newborns as well as of their mothers were determined. The average FN-level of the newborns lies at 33% related to the value for adults and at 48%, respectively, related to the maternal FN-content. There is no difference between male and female newborns. The FN-concentrations of the adults stated by us with 330 and 314 mg/l, respectively, for males and females correspond to the data in literature. Furthermore, the FN-content in plasma preparations was determined, with an average value of 2,356 mg/l this was highest in the factor-VIII-concentrate. The expediency and the prerequisites for a possible fibronectin substitution are discussed.
Zeitschrift für die gesamte innere Medizin und ihre Grenzgebiete 09/1987; 42(16):450-3.
-
Kinderärztliche Praxis 10/1982; 50(9):452-62.
-
[show abstract]
[hide abstract]
ABSTRACT: Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.
Fetal Diagnosis and Therapy 9(4):256-60. · 1.05 Impact Factor
