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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric cardiology 15 (1994), S. 89-90 
    ISSN: 1432-1971
    Keywords: Cardiomyopathy ; 3-Methylglutaconic aciduria ; Neutropenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The case of an infant with both dilated cardiomyopathy and 3-methylglutaconic aciduria is presented. The literature on this subject is reviewed.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1971
    Keywords: Heart auscultation ; Phonocardiography ; Innocent heart murmur
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In 810 schoolchildren heart auscultation was performed by both a school medical officer (SMO) and a pediatric cardiologist (PC). The prevalence for a grade 1, 2, or 3 vibratory innocent heart murmur (VIHM), a grade 2 or 3 VIHM, and a grade 3 VIHM heard by the PC was 41%, 13%, and 1%, respectively. The SMO noted such murmurs in 26%, 9%, and 1%, respectively. In 30% of the cases in which the PC had noted a grade 2 or 3 VIHM, the SMO agreed; in 30% of such cases the SMO did not hear any heart murmur. If the PC heard a grade 2 or 3 VIHM phonocardiography was performed in a case-control study in which the controls did not have a heart murmur (94 pairs). In four children with a grade 2 or 3 VIHM no heart murmur could be registered and in three other children the murmur did not have the typical diamond shape. In contrast, in three children without a heart murmur at school a VIHM was seen on the phonocardiogram. In 26 children with a phonocardiographically proven grade 2 or 3 VIHM the SMO did not hear any heart murmur. One child with a grade 3 VIHM (both by the PC and SMO) had a minor subvalvular aortic stenosis. There is quite a difference in auscultatory detection of a venous hum: 9% (PC) and 2% (SMO). The prevalence of the pulmonary ejection murmur is identical at 4%. The carotid bruit is heard in 4% (PC) and 2% (SMO). Pathologic murmurs were heard in 12 children by the PC, agreed by the SMO in two cases. Eight of the 12 pathologic murmurs were confirmed by further cardiologic examination and one was decided to be an innocent pulmonary ejection murmur. The auscultatory findings of 4 SMOs, who examined 〉100 children each, differ remarkably when compared separately to the results of the PC. Variation in intensity of the heart murmurs and difference in auscultatory skills explain the great difference in ausculatory findings between the PC and the SMO. Specialized training of SMO to recognize (pathological) heart murmurs is advocated.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1971
    Keywords: Vibratory innocent heart murmur ; Doppler echocardiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In 810 schoolchildren (aged 5–14 years) the prevalence of a grade 1–3/6 vibratory innocent heart murmur (VIHM) is 41%. Restricted to a grade 2 or 3 VIHM, the prevalence is 14%, decreasing from 21% in the age-class 5–6 years to 8% for children 13–14 years of age. The prevalence of a grade 3 VIHM is 1%. Together with a matched control, 84 children with a grade 2 or 3 VIHM underwent further cardiologic examination including electrocardiography, phonocardiography, and Doppler echocardiography. A positive correlation was found between the presence of a VIHM and higher left ventricular voltages on the ECG, but within the normal range; lower heart rate; smaller diameter of the ascending aorta (AAO); and higher blood flow velocity and higher maximal acceleration of the blood flow in the LVOT and the AAO. In 40% of the children with a VIHM, a systolic aortic valve vibration was seen with a frequency ≥100 Hz and an amplitude ≥1 mm, whereas this type of vibration was present in only one case control. No significant difference was found concerning the prevalence of false tendons in the left ventricle, systolic and diastolic diameter of the left ventricle, systolic time intervals, and shortening fraction of the left ventricle. The VIHM is strongly associated with a smaller AAO, with higher velocity and acceleration of the blood flow in the LVOT and AAO, and with a vibratory phenomenon of the aortic valve, pointing towards the LVOT-aortic valve region as the site of origin of the VIHM.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Arteriovenous aneurysm of the great cerebral vein of Galen ; Ultrasound duplexcanning ; Transfontanellar cerebral echography ; Doppler flow (velocity) measurements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Using combined echoencephalography and Doppler flow determination the diagnosis Arteriovenous aneurysm of the great cerebral vein of Galen could be made in two infants. Without vascular surgery one patient died, the other recovered completely. CT scanning confirmed the diagnosis. Invasive methods such as cerebral angiography were avoided. Case histories, neuropathological findings, ultrasound method and results are presented. Pathogenesis, clinical signs, treatment and prognosis are discussed. With the ultrasound method presented, the nature and location of the vascular anomaly were demonstrable, thus additional higher risk diagnostic methods could be avoided or planned more purposefully.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Neonate ; Cardiomyopathy ; Cataract ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days, respectively from cardiorespiratory failure. Mitochondrial abnormalities were observed in the heart and skeletal muscle. Despite the presence of a severe lactic acidaemia pointing to a disturbed pyruvate oxidation rate in vivo, a normal pyruvate oxidation rate was demonstrated in skeletal muscle homogenates. The activities of several enzymes of the mitochondrial respiratory chain appeared to be normal, indicating an intact respiratory chain. A myoglobinopenia could be excluded. The activities of some mitochondrial enzymes and the concentration of myoglobin increase with age.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A limited number of patients carry a deletion in chromosome 20p, with 20p11.23-p12.2 as the area of minimal overlap. Recently, a family has been identified in which a balanced translocation with a breakpoint in 20p12 co-segregates with the AGS phenotype. Here, we report a three-generation family with AGS and in which the affected members have a normal karyotype. Linkage analysis was performed with markers from the 20p candidate region. A lod score of Z=2.96 was obtained with D20S27 at no recombination. Combining D20S27 and D20S61 to a single highly informative locus resulted in a maximum lod score of Z=+3.56 at Θ=0.0. Haplotype analysis positioned AGS between D20S59 and D20S65, markers that define an interval of about 40 cM. Allelic loss was not observed for the tested markers and no abnormalities in the PAX1 candidate gene were detected. These findings demonstrate that the locus on chromosome 20p could be responsible for AGS in cytogenetically normal patients and argues for a general role of this locus in the aetiology of AGS.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Medical & biological engineering & computing 26 (1988), S. 147-152 
    ISSN: 1741-0444
    Keywords: Computer ; Doppler ; Spectral analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract A computer processing method has been developed for the extraction of parameters from cardiac Doppler signals. This method is based on the nature of these signals and on the method of their measurement. The parameters are estimated after background subtraction from adequately smoothed spectrograms. The improvement gained by this method of parameter extraction from smoothed spectrograms, rather than from raw spectrograms, is demonstrated. The method is used successfully in a reference value study of cardiac Doppler signals.
    Type of Medium: Electronic Resource
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