Biomedical subjects
Publications and source records attributed to M A Rich.
We report a case of a meconium-filled hemiscrotum detected by prenatal ultrasound and misdiagnosed as in-utero testicular torsion. Over the 2 months that the mass was followed, the ultrasound characteristics and size changed significantly. Imaging immediately after birth and early surgical treatment resulted in a favorable outcome.
Testicular cancers occur at a rate of 2 cases per 100,000 males. Gonadal stromal tumors, including Leydig cell tumors and tumors of the adrenogenital syndrome, account for 1% to 3% of these neoplasms. Despite their rarity, these hormone-producing tumors are particularly interesting because of their potential for causing endocrinologic manifestations in prepubertal and adult males. They are also clinically significant, and early identification is critical to avoid profound and often irreversible developmental changes in affected children. An accurate diagnosis is important to differentiate tumors that will respond to medical management from tumors that require definitive surgical therapy.
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This study assessed the construct validity of Visual Reproduction (VR) Cards A (Flags) and B (Boxes) from the original Wechsler Memory Scale (WMS) compared to Flags and Boxes from the revised edition of the WMS (WMS-R). Independent raters scored Flags and Boxes using both the original and revised scoring criteria and correlations were obtained with age, education, IQ, and four separate criterion memory measures. Results show that for Flags, there is a tendency for the revised scoring criteria to produce improved construct validity. For Boxes, however, there was a trend in the opposite direction, with the revised scoring criteria demonstrating worse construct validity. Factor analysis suggests that Flags are a more distinct measure of visual memory, whereas Boxes are more complex and significantly associated with conceptual reasoning abilities. Using the revised scoring criteria, Boxes were found to be more strongly related to IQ than Flags. This difference was not found using the original scoring criteria.
PURPOSE: Testicular masses in male individuals with the adrenogenital syndrome are a clinical and pathological diagnostic dilemma. The major differential diagnosis of gonadal nodules in this setting includes interstitial Leydig cell tumors and secondary benign tumors of possible adrenal rest origin. Management of these 2 entities obviously differs. We report clinical, biochemical and pathological features in 3 children with rare bilateral testicular masses and the adrenogenital syndrome in an attempt to define better the natural history of these entities and formulate recommendations for management. MATERIALS AND METHODS: All 3 patients had a history of precocious puberty. Two boys were diagnosed with the adrenogenital syndrome at birth, and presented with bilateral testicular masses at ages 5 and 17 years, respectively. The remaining patient was diagnosed at age 15 years after testicular and adrenal masses developed. All 3 cases were classified as 21-hydroxylase deficiency with markedly elevated levels of 17-hydroxyprogesterone, dehydroepiandrosterone, adrenocorticotropic hormone and androstenedione. Testosterone levels were mildly elevated above normal age matched values. Testicular biopsies were done in each case. RESULTS: Two cases were initially interpreted as bilateral Leydig cell tumors but they were histologically reclassified as tumors of the adrenogenital syndrome. The other case was diagnosed as interstitial cell hyperplasia. Although corticosteroid therapy corrected each steroid abnormality, in no case did tumors resolve, but there was gradual regression in 1. Each patient has been followed conservatively for 4 years. There has been no increase in tumor size or evidence of metastatic disease. CONCLUSIONS: Bilateral testicular masses in children with the adrenogenital syndrome may mimic Leydig cell tumors, which also commonly cause precocious puberty. Orchiectomy for Leydig cell tumors in boys with precocious puberty is contraindicated without a complete endocrinological profile. When congenital adrenal hyperplasia is diagnosed, these tumors appear to be derived from cells of possible adrenal origin stimulated by adrenocorticotropic hormone and they may be followed conservatively.
PURPOSE: A modification of sagittal cystoplasty is described that maximally reconfigures the native neuropathic bladder, as required in enterocystoplasty. MATERIALS AND METHODS: The star modification incorporates lateral cystotomies with anteroposterior cystotomy, as in the widely used sagittal clamshell technique. RESULTS: Enterocystoplasty was performed in 27 patients with various bowel segments using this technique and none has had complications attributable to cystoplasty after a mean followup of 2.5 years. CONCLUSIONS: Star reconfiguration defunctionalizes any potential noncompliant or hyperreflexic tendencies inherent to the neuropathic bladder before augmentation. In addition, the modification provides a technical advantage by increasing the linear length of the edge available for the anastomosis of bowel to bladder.
Priapism and acute neurological events are believed to be unrelated complications of sickle cell hemoglobinopathy. We describe a syndrome based on our experience and a review of the literature of significant neurological events after partial exchange transfusion to treat priapism in sicklemic patients. Severe headache is often the initiating symptom of this complex. The ensuing neurological events range from seizure activity to obtundation requiring ventilatory support. The proposed pathophysiology of these neurological events is related to cerebral ischemia after an acute increase in per cent total hemoglobin, concomitant decrease in per cent hemoglobin S and subsequent release of vasoactive substances during penile detumescence. We have termed this constellation of events the ASPEN syndrome, an eponym for association of sickle cell disease, priapism, exchange transfusion and neurological events. Early recognition and aggressive medical management resulted in complete reversal of neurological sequela.
Patient noncompliance is a pervasive problem among end-stage renal disease (ESRD) patients. Previous studies have implicated social support as an important correlate of adherence behavior in other chronic illness groups, but little research has examined this relationship in a hemodialysis population. The present study examined the main and interactive effects of social support in the family and illness-related physical impairment with regard to patient compliance in a sample of 78 hemodialysis patients. Results indicated that patients holding perceptions of a more supportive family environment exhibited significantly more favorable adherence to fluid-intake restrictions than did patients reporting less family support. Family support was not associated with adherence to dietary restrictions. The effect of family support on fluid-intake adherence was not moderated by level of physical impairment. This pattern suggests that the influence of support on adherence is more attributable to a main or direct effect, as opposed to a buffering process in the face of increased physical impairment.
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Expression of the putative Wilms tumor gene (WT-1) was studied to investigate its role in renal growth. Compensatory renal growth was induced in 35-day-old Yorkshire-swine by unilateral nephrectomy. The contralateral kidney was removed 0.5 to 72 hours following the initial operation and analyzed for WT-1 gene expression by Northern analysis. Compensatory renal growth was detectable by wet weight measurements at 12 hours following contralateral nephrectomy. WT-1 gene expression was detectable in the contralateral kidney as early as 0.5 hours following unilateral nephrectomy. Expression of this gene was not detected in normal kidney from swine of this age group or from sham operated swine. In addition, we demonstrated the expression of this gene in newborn rat, pig and human kidneys, as well as human fetal kidney, indicating its role in nephrogenesis. These data suggest that expression of the WT-1 gene is involved in the regulatory mechanisms that control different types of renal growth.
N-myc oncogene expression was characterized in porcine kidneys to investigate the potential role of this gene in normal renal development and oncogenesis. N-myc RNA expression was detected in porcine kidneys from birth until 5 wk of age, which corresponds to the time when glomerular differentiation is completed. Immunohistochemical studies revealed that N-myc protein was selectively expressed in the primordia of renal proximal tubule epithelial cells. These cells were cultured in vitro and continued to express N-myc for a limited time. Comicroinjection of a mutant ras oncogene and N-myc into these cells led to focus formation in soft agar, loss of contact inhibition, and the establishment of an immortalized cell line. These findings support a multistep model of renal oncogenesis that involves overexpression of N-myc.
Single system intravesical ureteroceles in children usually result in various degrees of hydroureteronephrosis requiring surgical intervention to provide drainage, decompression and preservation of renal function. Our experience with 7 symptomatic single system ureteroceles in 5 children managed by low transverse endoscopic ureterocele incision is reviewed. After endoscopic incision, hydroureteronephrosis decreased in all patients. Vesicoureteral reflux after incision was noted in only 1 kidney. The technique of short (2 to 3 mm.) low transverse ureterocele incision is recommended for the initial management of single system ureteroceles to relieve obstruction. Preservation of the flap valve ureteral antireflux mechanism is possible in most children. The technique is simply performed, can be safely done in the youngest child and, in many, obviates the need for a further operation.
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A technique is described for creation of a cosmetically normal, vertical slit-like urethral meatus in conjunction with common hypospadias reconstructions that preserve the urethral plate. The distal portion of the urethral plate is incised longitudinally in the midline. This incision allows the flat and rigid urethral plate to be folded or hinged during glans plasty, molding it into an anatomically correct vertical slit configuration. This modification has been applied successfully to a variety of meatal-based flap and onlay island flap urethroplasties with no increased morbidity and a significant improvement in meatal cosmetic results.
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Tumor specimens from 33 patients with neuroblastoma were assayed for amplification of the N-myc oncogene and RNA expression to determine whether N-myc RNA expression levels correlated with N-myc gene amplification and clinical outcome. N-myc gene amplification was detected in one stage II tumor, one stage IV-S tumor, and seven stage III or IV tumors. In each case, N-myc RNA expression roughly paralleled N-myc gene amplification. However, enhanced N-myc RNA expression was not confined to tumors with N-myc gene amplification: all of the early (stage I and II) tumors, five stage IV-S tumors, and 12 advanced (stage III and IV) tumors had levels of N-myc RNA that were elevated up to 50-fold. While N-myc gene amplification correlated with prognosis, there was no such correlation with levels of N-myc RNA expression. The precise role of the N-myc gene in the pathogenesis of neuroblastoma remains unclear.
Renal tumors of childhood occasionally exhibit histopathologic and clinical features that preclude accurate diagnosis. Molecular and cell culture techniques may be helpful in better characterizing these cases. This approach was used to examine unusual bilateral renal tumors from a young boy. The left kidney tumor was an undifferentiated neoplasm with light microscopic features suggestive of both Wilms' tumor and neuroblastoma, and the right kidney tumor was identified as multilocular cystic nephroma (MLCN). In vitro tissue culture of tumor cells and hybridization experiments with an N-myc oncogene DNA probe contributed to a revised diagnosis of intrarenal neuroblastoma of the left kidney. A cell line established from the left tumor exhibited neurite outgrowth and was positive for neuron-specific enolase and synaptophysin. N-myc was greater than ten-fold amplified in chromosomal DNA from the left kidney tumor. Measurement of N-myc RNA expression enabled distinction between benign and malignant tumor tissue. The detection of N-myc gene amplification predicted a poor prognosis which was confirmed by the patient's subsequent clinical course.
We do not contend that all ureters are amenable to ureteroscopic manipulation; we only call attention to the vast and expanding armamentarium available to the practicing endourologist. The application of these techniques and instruments in certain cases, especially when the potential for morbidity with an open operation is significant, will no doubt result in ever-increasing numbers of challenging ureters being managed successfully by the integration of antegrade and retrograde endourologic techniques. However, it should be remembered that the procedure is invasive and therefore should be performed by experienced endourologists for the proper indications.