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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common birth defects affecting 1/1000 Caucasians. Genetic factors are thought to contribute to the development of this disorder. A significant association between two restriction fragment length polymorphisms, the TGFα TaqI 2.7-kb allele and the TGFα BamHI 40-kb allele, at the transforming growth factor alpha (TGFα) locus and the occurrence of clefting has previously been reported. A total of 98 Caucasian patients of Alsacian ancestry was recruited from our registry of congenital malformations. These patients had isolated CL/P but no other anomalies. In addition 57 patients with cleft palate, but without cleft lip, were studied. A control group comprised 99 unrelated healthy Caucasians of the same Alsacian ancestry. TaqI and BamHI identify two-allele polymorphisms. The TGFA Taq and BamHI alleles showed no significant association with the presence of clefting, the only exception being that the BamHI 10.0-kb allele was significantly more frequent in patients with bilateral CL/P.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Biomembranes 644 (1981), S. 41-52 
    ISSN: 0005-2736
    Keywords: (HTC cell) ; Anti-tumor antibody ; Digitonin ; Plasma membrane purification
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1437-9813
    Keywords: Vesicoureteral reflux ; Teflon ; Endoscopic treatment ; Granuloma calcification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report our experience with the endoscopic treatment of vesicoureteral reflux by submucosal injection of Teflon in children. During a period of 40 months, 450 children and a total of 678 ureters were treated; 606 ureters were available with a follow-up of more than 3 months and examined by cystography. The overall success rate was 84.2% after one injection and 94.3% after two injections; 96.2% of the primary refluxes disappeared after two injections. We believe that in duplicated ureters and grade IV and V refluxes only one injection should be tried. If this fails we undertake surgical reimplantation. The success rate in neurogenic bladders and failures of previous surgical reimplantations allows surgery to be avoid in these difficult cases. We found seven non-pathological Teflon granuloma calcifications that had no influence on the results.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 4 (1990), S. 319-323 
    ISSN: 1432-198X
    Keywords: Urinary malformation ; Epidemiology ; Congenital defects ; Birth defects ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five infants (14.8%) had recognized chromosomal and non-chromosomal syndromes. The more frequent non-urinary malformations were cardiac, digestive and limb anomalies. For each case a control was studied. The following features were assessed: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for risk factors. Weight, length and head circumference at birth were less than in the controls and the weight of the placenta was lower. Pregnancies with IUS anomalies were more often complicated by oligo-amnios and threatened abortions. Oligo-amnios was more frequent in pregnancies in which babies had multiple malformations and recognized syndromes with IUS anomalies. One child of every three with IUS anomalies had an extra-urinary malformation, which is 12 times the incidence of such malformation in our population. There was an increase in consanguinity in the parents of our patients. The incidence of IUS anomalies in first-degree relatives was 2.9%. First-degree relatives had more non-urinary malformations than controls (7.02 vs 3.2%). Our study demonstrated the high capacity of a general ultrasound screening programme to detect fetal malformations affecting the urinary tract.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 20 (1990), S. 553-553 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two cases of haemorragic renal cyst presenting in the neonatal period are described. Ultrasound examination, excretory urogram and MRI, gave diagnosis in the second case. The remarkable histopathologic pattern of these two cases has led to propose correct diagnosis of pure cystic mesoblastic nephroma, an unusual variety of mesoblastic nephroma.
    Type of Medium: Electronic Resource
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