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Biomedical subjects

E Leiter

Publications and source records attributed to E Leiter.

17 recordsLinked to original sources

Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant.

We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.

Aneuploidy

Persistent fetal ureter.

Six patients have been seen with a peculiar ureteral lesion that has not been described previously. The lesion is characterized by either local segmentation or convolution and may represent either a persistent fetal ureter or a form of ureteral dysgenesis. Proximal dilatation, when present, has been less than the original radiographic appearance of high grade obstruction would lead one to expect. The ureteral lesions have disappeared progressively, suggesting that a period of conservative observation is warranted in similar situations.

Female

Bilateral herniation of renal pelves: a complication of cutaneous pyelostomy.

The first reported case of bilateral herniations of the renal pelves as a complication of cutaneous pyelostomy is presented. We describe a modification of the original surgical technique that may prevent herniation, based on fixation of the pelvis to the lumbodorsal fascia as well as the cut edge of the pelvis to the skin. In our patient the bilateral herniations were corrected by repairing the fascial defects and suturing of the pelvis to the fascia.

Chromosomes, Human, 6-12 and X

Urinary fistula into ureteral stump after ileal conduit diversion.

Despite ileal conduit diversion for urinary incontinence, an adolescent male with meningomyelocele continued to void per urethram postoperatively. Urologic investigation disclosed spontaneous fistulization from a ureteroileal anastomosis to a ligated ureteral stump, with resultant urinary drainage to the bladder. This unusual complication of ileal conduit diversion has not been reported previously. More attention should be directed to securing a watertight ureteroileal anastomosis. A careful single layer anastomosis is recommended to minimize urinary leakage without increasing the risks of stenosis and obstruction.

Adolescent

Bilateral nephrectomy for hypertension in patients with chronic renal failure on a dialysis program.

During the last 6 years 33 bilateral nephrectomies have been performed for severe hypertension in patients with chronic renal failure on a dialysis program. Nephrectomy resulted in a prompt and sustained reduction in blood pressure, an improved sense of well-being and a gain of weight. Despite the fact that the mean hematocrit decreased from 25 to 18 per cent all patients thrived. The nephrectomy group showed an 85 per cent 5-year cumulative survival rate compared to 55 per cent in the non-nephrectomy group. There was 1 mortality and low morbidity. Simultaneous nephrectomy by 2 teams, using a posterior approach, proved more satisfactory than an anterior or bilateral flank apprach. The indications for and arguments against bilateral nephrectomy are discussed.

Adult

The management of priapism in sickle cell anemia.

After assessing the data currently available on the multiple modalities used to manage priapism secondary to sickle cell disease we adopted a specific therapeutic regimen for the treatment of this problem. Early non-surgical measures, including hydration, alkalization and analgesics, rapid red cell infusion to double the hematocrit and late shunting procedures in conjunction with exchange transfusion, offer the soundest approach on pathophysiological grounds. There is currently no evidence to support early surgical intervention as the best approach to conserve potency in this problem.

Anemia, Sickle Cell

Preoperative diagnosis of renal angiomyolipoma.

Six cases of renal angiomyolipoma are reviewed. In 5 of these 6 cases a characteristics radiolucent fat sign was present overlying the renal mass. In 10 cases of hypernephroma selected only on the basis of a tissue diagnosis and the availability of a pre-injection scout film this sign was not present. The recent literature is reviewed on the radiographic diagnosis of angiomyolipoma. We conclude that angiography is not reliable in the differentiation of angiomyolipoma from hypernephroma. However, demonstration of a radiolucency on the pre-injection scout film is virtually pathognomonic of angiomyolipoma. Tomographic cuts without contrast injection may increase diagnostic accuracy.

Adenocarcinoma

Is nocturia of prostatism secondary to renal concentrating defect?

An attempt was made to demonstrate a relationship between the nocturia of prostatism and decreased renal tubular concentrating capacity. Nos such relationship could be substantiated. In the absence of hydronephrosis, nocturia remains best attributed to detrusor instability and a decreased effective vesical capacity.

Chronic Disease

Genitourinary tract anomalies in lobster claw syndrome.

A child with ectrodactyly or lobster claw syndrome and bilateral ureterovesical junction obstruction is described. The embryogenesis of the kidney and the limb buds suggest that a close association exists between these 2 conditions. Therefore, it is important to investigate the urinary tract in all patients with limb deformities.

Abnormalities, Multiple