1/78. Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Grasbeck syndrome.Two Imerslund-Grasbeck patients who presented with recurrent urinary tract infections and genitourinary abnormalities are described. The patients were evaluated with abdominal ultrasounds, voiding cystourethrograms, and Schilling tests. Each patient had large postvoid residual urine secondary to a motor-neurogenic bladder. One had a duplication of the distal urethra manifesting as two meatal openings. There was lack of urinary excretion of radioactive vitamin B12 on Schilling tests in both patients. patients with Imerslund-Grasbeck syndrome may be predisposed to urinary tract infections because of incomplete bladder emptying. Complete physical and radiological examinations of the genitourinary tract should be performed.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
2/78. Unusual hand malformations with cardiac defects--a variant of heart--hand syndrome IV.Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of heart--hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
3/78. Clear cell adenocarcinoma of the cervix associated with a rare genitourinary malformation.BACKGROUND: Cervical adenocarcinoma and genitourinary malformations are relatively common disorders, yet their coexistence is rare. CASE: A 49-year-old woman developed clear cell adenocarcinoma in the atretic hemicervix of a communicating uterus type 7 and had ipsilateral renal agenesis. Compared with the unaffected right hemicervix, only the tumor-involved glands of the atretic left hemicervix contained ciliated tuboendometrial cells. Four and a half years after radical hysterectomy and pelvic radiation, she showed no evidence of recurrence. CONCLUSION: In contrast to current opinion, communicating uteri type 7 are associated with ipsilateral renal agenesis. Our histologic findings support the hypothesis that tuboendometrial cells are the cells of origin for cervical clear-cell adenocarcinoma.- - - - - - - - - - ranking = 0.38461538461538keywords = urinary (Clic here for more details about this article) |
4/78. Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. methods: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
5/78. Pseudoexstrophy in a female child.A six-year-old female patient presenting with a swelling in the infraumbilical part of the abdomen, bulging out on straining, was diagnosed to have pseudoexstrophy bladder. The urinary tract was normal. The patient had bifid clitoris. There was no other associated malformation. Surgical repair of abdominal wall defect was done successfully. A new classification of exstrophy variants is proposed.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
6/78. A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 ( 2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.- - - - - - - - - - ranking = 0.46153846153846keywords = urinary (Clic here for more details about this article) |
7/78. Perinatal rupture of the uropoietic system.AIMS: Ruptures of the uropoietic system resulting in either urinary ascites or urinoma are rare complications in the neonate. Although ruptures without clear predisposing factors are described, in most cases they are associated with obstructive uropathy. The diagnosis is often delayed and the prognosis is related to the degree of renal damage. There is discussion about possible protective mechanisms of the rupture for renal function in patients with obstructive uropathy. methods: We retrospectively analyzed the clinical presentation, predisposing factors and the renal function before and after treatment of 10 neonates with a rupture of the pyelum or urinary bladder in our hospital. RESULTS: The group consisted of 9 boys and 1 girl. The average birth weight was 3,880 g. The patients presented with distended abdomen (n = 10), abdominal mass (n = 2), ascites (n = 5), oligohydramnion (n = 2), hypertension (n = 1) and anuria (n = 1). Underlying diagnosis included obstruction of the ureteropelvic junction (UPJ obstruction) in 3 children and posterior urethral valves in 7 children. Five children presented with urinoma, 3 children had a urinoma in combination with ascites and 2 children had isolated ascites. All children had reduced renal function at the time of diagnosis. In all 10 cases, the serum creatinine decreased after treatment. Scintigraphic investigation with mercapto-acetyltriglycerine (MAG III) demonstrated diminished function and perfusion of all 3 kidneys with UPJ obstruction and isolated urinoma even after treatment. Children with posterior urethral valves and urinoma revealed better function of the ruptured kidney and diminished function of the kidney which was not ruptured. One child with a rupture of the urinary bladder and urinary ascites showed good function and perfusion of both kidneys. CONCLUSION: Perinatal ruptures of the uropoietic system are rare. The clinical presentation is aspecific. One should consider a rupture of the urinary bladder or pyelum in a neonate with a distended abdomen, hydronephrosis and ascites. The long-term prognosis depends on the underlying diagnosis and the location of the rupture. Probably, a UPJ obstruction with an isolated urinoma is associated with irreversible renal damage of the ruptured kidney. A rupture resulting in urinary ascites apparently provides better decompression with better function of the ruptured kidney. Scintigraphic investigation is necessary for a separate evaluation of the single kidney function.- - - - - - - - - - ranking = 0.46153846153846keywords = urinary (Clic here for more details about this article) |
8/78. retrocaval ureter and associated abnormalities.OBJECTIVE: To investigate the association of retrocaval ureter with other congenital abnormalities. methods AND patients: Two new cases of retrocaval ureter are discussed and a detailed electronic search of the literature was mainly focused on the concomitant abnormalities. The first of our patients had also a glandular hypospadias and a supernumerary lumbar vertebra, while the second one had syndactylia (fixed toes) in both feet. Results. The review of the literature revealed that 21% of the cases of retrocaval ureter present with concomitant abnormalities mainly from the cardiovascular system and the genitourinary tract. CONCLUSION: diagnosis of retrocaval ureter should increase the awareness of the responsible physician on the possibility of concomitant malformations where treatment could prevent future symptoms.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
9/78. food aversion and facial dysmorphism--a newly described syndrome?We report three children with food aversion and characteristic facial dysmorphism, long digits and genitourinary abnormality. Interrogation of the london Dysmorphology database suggests that this is a previously unreported syndrome.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
10/78. Unusual epithelium in a subpubic sinus.A 5-year-old male presented with the history of whitish discharge from a midline sinus opening just above the pubis for 2 months. Attempted radiography of the sinus revealed a blind fistula and voiding cystourethrography was normal. The fistula was excised deep to the subpubic space without any evidence of connection to the lower urinary tract. Pathologic evaluation of the lesion revealed a ciliated-columnar lining with stratified-squamous and transitional epithelium. To our knowledge, a subpubic sinus with this unique presentation of epithelium has not been reported previously.- - - - - - - - - - ranking = 0.076923076923077keywords = urinary (Clic here for more details about this article) |
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