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Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. Studies in patients with 10p deletions have defined two non-overlapping regions that contribute to this complex phenotype. These are the DiGeorge critical region II (refs 1, 2), which(More)
  • R Beetz
  • 2003
Bacterial growth in the urinary tract is usually prevented by host factors including bacterial eradication by urinary and mucus flow, urothelial bactericidal activity, urinary secretory IgA, and blood group antigens in secretions which interfere with bacterial adherence. Bacterial eradication from the urinary tract is partially dependent on urine flow and(More)
PURPOSE We recorded urinary tract infections in the long term after surgical reflux correction. MATERIALS AND METHODS A total of 158 of 189 patients (160 females and 29 males) who were followed in 1985, an average of 10.8 years after reflux surgery were contacted again in 1995. At that time median patient age was 26 years (range 15.7 to 38.8) and the(More)
PURPOSE Continent anal urinary diversion is a therapeutic option in bladder exstrophy. We report our long-term results with the rectosigmoid pouch (Mainz pouch II), a modification of the classic ureterosigmoidostomy. MATERIALS AND METHODS A total of 38 children with a mean age of 5 years (range 0.5 to 17) underwent a Mainz pouch II procedure between 1991(More)
After failure of conservative treatment of neurogenic bladders (deterioration of the upper urinary tract/incontinence) continent cutaneous diversion has to be considered in those patients with irreparable urethral sphincter defects or those who are unable to perform trans-urethral self-catheterization. In this second part of the study we investigated the(More)
In infants and young children, urinary tract infections (UTI) often present with unspecific symptoms. Appropriate techniques of urine sampling play an important role for accurate microbiological diagnosis. In infants urine sampling by bladder puncture or transurethral catheter is recommended. In young infants with suspected pyelonephritis, calculated(More)
After the failure of conservative treatment of neurogenic bladders (deterioration of the upper urinary tract/incontinence), bladder augmentation/bladder substitution and supravesical urinary diversion have to be considered. In our concept, bladder augmentation is indicated for hyperreflexive and small low compliance bladders with normal upper urinary(More)
The delineation of the in vivo role of GATA-3 in human T cell differentiation is a critical step in the understanding of molecular mechanisms directing human immune responses. We examined T cell differentiation and T cell-mediated effector functions in individuals lacking one functional GATA-3 allele. CD4 T cells from GATA-3+/- individuals expressed(More)
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive. We identified a kindred with(More)
In four children with hypoparathyroidism and deafness as initial major manifestations of Kearns-Sayre syndrome, a unique pattern of mitochondrial DNA rearrangements was observed. Hypocalcemic tetany caused by PTH deficiency started between age of 6-13 y and was well controlled by small amounts of 1.25-(OH)2-cholecalciferol. Rearranged mitochondrial genomes(More)