Attenuated afferent arteriolar response to acetylcholine in Goldblatt hypertension.

We tested the hypothesis that endothelium-dependent afferent arteriolar vasodilation is impaired in the nonclipped kidney of two-kidney, one clip Goldblatt hypertensive rats relative to sham-operated controls. Five to six weeks after positioning of a 0.25-mm clip on the left renal artery, systolic pressure averaged 173 +/- 10 mm Hg in Goldblatt rats and 118 +/- 4 mm Hg in controls (p less than 0.01). The right kidney was harvested for videometric study of the microvasculature using the in vitro blood-perfused juxtamedullary nephron technique. Kidneys from Goldblatt and control rats were perfused at renal arterial pressures of 150 and 110 mm Hg, respectively. Afferent arteriolar inside diameter did not differ between control (20.3 +/- 0.7 microns) and Goldblatt (21.1 +/- 1.7 microns) kidneys. Determination of afferent responses to increasing concentrations of the endothelium-dependent vasodilator acetylcholine (1 nM to 10 microM) in the bathing solution unveiled a shift to the right in the dose-response relation in Goldblatt rats. Afferent arterioles from control kidneys dilated significantly when exposed to 1 nM acetylcholine, whereas a 1,000-fold higher concentration was required to dilate arterioles from Goldblatt rats. Sodium nitroprusside, an endothelium-independent vasodilator, increased afferent diameter to a similar extent in both groups. In a separate group of normal kidneys, vasodilator responses to 10 microM acetylcholine were completely blocked by 1,000 microM nitro-L-arginine, an inhibitor of nitric oxide synthesis. Thus, endothelium-dependent afferent vasodilation appears to be impaired in the nonclipped kidney of Goldblatt hypertensive rats. This phenomenon could contribute to the altered renal hemodynamic status characteristic of Goldblatt hypertension.

Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).

We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromosome. The translocated portion of 1q remains active in the tissues studied. This is the third case report with partial trisomy 1q and partial monosomy Xq. However, it is the first with specific breakpoints at 1q31.1 and Xq24.

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

A notable subset of the recent literature on the disorder neurofibromatosis type 1 (NF1) describes patients with NF1, facial anomalies, and other unusual findings. We describe a molecular re-evaluation of two such families reported previously by Kaplan and Rosenblatt [1985], who suggested that their NF1 manifestations, facial phenotype, and other findings could result from a disorder distinct from NF1. Submicroscopic deletions involving the NF1 gene were identified in both families by fluorescent in situ hybridization and analysis of somatic cell hybrids. Affected subjects of the first family were heterozygous for a microdeletion of approximately 2 Mb, which included the entire NF1 gene and flanking contiguous sequences. The family was remarkable for cosegregation of the NF1 microdeletion with facial abnormalities and a pattern of early onset of cutaneous neurofibromata upon transmission from an affected mother to her three affected children. The propositus of the second family carried a deletion that at the least involved NF1 exon 2 through intron 27, which is > 200 kilobases in length. Because all persons in the family were deceased, the size of the deletion could not be determined precisely. Facial anomalies were observed in the propositus and his NF1-affected mother and sister. The data from these families support our hypothesis, which was initially based solely on sporadic deletion cases, that deletion of the entire NF1 gene, or in conjunction with deletion of unknown contiguous genes, causes the facial anomalies and early onset of neurofibromata observed in this subset of NF1 patients. In addition, other features observed in the persons in these families suggest that some NF1 microdeletion patients may be at increased risk for connective tissue abnormalities and/or neoplasms.

Genotype analysis of the NF1 gene in the French Canadians from the Québec population.

We genotyped 19 NF1 families from the French Canadians of the Québec population with six intragenic polymorphic markers including 2 RFLPs (EcoRI and RsaI) and 4 microsatellites (IVS26-2.3, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0). Genotype analysis indicated families 7610 and 7473 bear deletions. In Family 7610 the deletion removed the entire NF1 gene except exons 1 to 4b. The breakpoint of the deletion is located between exons 4a and 4b. The deletion 7473 was derived from the maternal chromosome and exons 1 to 5 were deleted. The breakpoint of the deletion is located between exons 7 and 13. Their phenotypes are reported. The allele frequencies of microsatellites IVS27AC28.4 and IVS38GT53.0 are compared to previously reported data from Caucasians, including Spanish and Italians. The difference is statistically significant (P < 0.0036) for marker IVS27AC28.4 between the Québec French Canadian and the Italian population.

Endoscopic treatment of vesicoureteral reflux in children.

Endoscopic surgery for vesicoureteral reflux involves injection of a substance beneath the ureterovesical junction (UVJ) to buttress this region. In children, this procedure typically is performed under anesthesia on an outpatient basis, with minimal postoperative pain and a rapid recovery.

Hypospadiac or intact foreskin graft for syndactyly repair.

BACKGROUND/PURPOSE: Syndactyly is one of the most common malformations of the hands and feet. Repair may necessitate the use of a full-thickness skin graft. The prepuce is an excellent choice for grafting because of its lack of hair, elasticity, and degree of thickness. The authors report 4 cases of syndactyly repair using foreskin for grafting. METHODS: The authors reviewed 4 cases of syndactyly repaired at Children's Hospital, where foreskin was used for grafting. There was one congenital band syndrome and 3 cases of simple syndactyly. Three patients had a normal prepuce and underwent simultaneous circumcision. One patient presented with coronal hypospadias and underwent simultaneous meatal advancement and glanuloplasty. RESULTS: All patients experienced a satisfactory outcome with no graft loss and no complications. No grafts showed hair, and 3 grafts showed slight relative hyperpigmentation. Excess foreskin was available in all cases of simple syndactyly. Concominant hypospadias repair did not increase the morbidity of the surgery. CONCLUSION: The intact or hypospadiac foreskin is an excellent choice for a free graft in syndactyly repair when available.

Communicating hematocele in children following splenic rupture: diagnosis and management.

Acute hematocele is commonly associated with direct testicular trauma. Blood within the tunica vaginalis may infrequently accompany blunt abdominal injury in the presence of a communicating hydrocele. Optimal management involves early recognition and treatment of the abdominal source of bleeding. Elective repair of the communicating hydrocele/hematocele should follow. We report 2 cases of boys with scrotal swelling due to communicating hematoceles. Both cases were associated with a patent processus vaginalis and splenic laceration secondary to blunt trauma.

Glomerulocystic disease: unilateral involvement of a horseshoe kidney and in trisomy 18.

Two occurrences of glomerulocystic kidney disease (GCD) in children younger than 1 year are described. One child was 3 months old with trisomy 18; the other child was 6 months old with GCD localized to one side of a horseshoe kidney. Lectin and immunohistochemical studies in tissue from the second child suggested that the entire nephron may be affected in GCD. There may also be overlap of morphological features between GCD and early stages of autosomal dominant polycystic kidneys.

Metachronous bilateral torsion of the testicular appendices.

BACKGROUND: Torsion of the appendix testis is a common cause of scrotal pain in children and a common cause for surgical exploration of the pediatric scrotum. The first case of metachronous bilateral torsion of the testicular appendices managed by a non-operative approach is reported. METHODS/RESULTS: A case report and a computer-assisted review of the literature are presented. Physical findings of a tender, mobile mass over the anterior surface of the testis characterize the presentation. Doppler findings of normal blood flow to the testes with increased flow to the adjacent appendix testis can be utilized as an adjunct to diagnosis. Ultrasonographic findings of a pedunculated mass with a central hypoechoic area at the superior aspect of the testis support the diagnosis. Accurate non-operative diagnosis of torsion of the appendix testis permits successful conservative management with non-steroidal anti-inflammatory agents. CONCLUSIONS: Improvements in ultrasonographic and Doppler imaging of torsion of the appendix testis have facilitated the diagnosis of this entity and decreased the need for surgical exploration of the scrotum.

Prostatic abscess in the newborn: an unrecognized source of urosepsis.

We present a 10-day-old boy who developed fulminant urosepsis. At autopsy, he was found to have a prostatic abscess as his sole source of infection. We reviewed the 12 previous reported cases of prostatic abscess in newborns and present factors that may suggest the diagnosis. The treatment and outcome in each of the cases are also presented.

Otolaryngologic manifestations of neurofibromatosis in children.

OBJECTIVE: Neurofibromatosis (NF) is a genetic disease with a wide variety of clinical manifestations. Eight patients with otolaryngologic manifestations of NF are presented. This represents 4.9% of all NF patients currently registered at the NF clinic at the Montreal Children's Hospital. METHODS: Clinical manifestations are divided into cosmetic and functional categorizations. RESULTS: Five patients presented with cosmetic deformities, the most common being an enlarging facial mass. Three patients presented with functional impairments, the most common being hearing loss and airway obstruction. Radiologic findings include the presence of plexiform neurofibromas and airway obstruction. Management was individualized to improve cosmesis and/or function. In the literature, the incidence of head and neck manifestations in patients with NF varies between 14% and 37%. Cosmetic lesions include pigmentary changes (café-au-lait spots), prominent neurofibromas, and osseous lesions. Functional deficits include hearing loss, speech and voice abnormalities, airway obstruction, dysphagia, facial paresis, lip incompetence, and impaired mastication. Diagnosis of NF-1 (classic von Recklinghausen's disease) and NF-2 (bilateral acoustic schwannomas) can be made using specific criteria. Management of patients with NF is individualized depending on the cosmetic deformity, functional impairment, and/or malignant potential of tumours. NF is progressive and has no cure. Prognosis depends on individual clinical manifestations, surgical resectability, and the potential for sarcomatous degeneration. CONCLUSION: This study provides a unique classification of the otolaryngologic findings in NF, giving the otolaryngologist an operable framework for diagnosis, treatment and prognosis.

Communicating hematocele in children following splenic rupture: diagnosis and management

Acute hematocele is commonly associated with direct testicular trauma. Blood within the tunica vaginalis may infrequently accompany blunt abdominal injury in the presence of a communicating hydrocele. Optimal management involves early recognition and treatment of the abdominal source of bleeding. Elective repair of the communicating hydrocele/hematocele should follow. We report 2 cases of boys with scrotal swelling due to communicating hematoceles. Both cases were associated with a patent processus vaginalis and splenic laceration secondary to blunt trauma.

Splenogonadal fusion.

PURPOSE: We report on 7 patients with splenogonadal fusion and review the literature on this unusual condition. MATERIALS AND METHODS: The medical records of patients diagnosed with splenogonadal fusion between 1989 and 1994 at 4 institutions were retrospectively reviewed. RESULTS: All 7 patients were properly diagnosed at surgery and the testes were salvaged in 5. In 1 intersex patient gonadectomy was appropriate. CONCLUSIONS: Splenogonadal fusion is a rare condition. Familiarity with this lesion allows for intraoperative diagnosis and testicular salvage.

Safety and efficacy of pediatric ureteroscopy for management of calculous disease.

Ureteral calculi, although relatively uncommon in children in the United States, have traditionally been managed with open surgical removal. Innovations in managing ureteral stones in the adult population have not readily been used to manage such problems in children due to unknown effects on the ureterovesical junction and to the unavailability of smaller caliber ureteroscopes. We report on the technique and long-term (average 26 months, range 3 to 56) safety following 18 successful ureteroscopic procedures for stone removal in 16 patients 16 months to 15 years old. All children were rendered stone-free. Followup quantitative renal scans and excretory urography showed adequate renal growth. No incidence of vesicoureteral reflux occurred in 9 of the 14 patients (64%) available for followup who underwent postoperative cystograms. These results suggest that judicious use of smaller caliber instruments, improved ancillary equipment and experience in such procedures make ureteroscopy a safe procedure for management of ureteral calculi in children.

Ureteropelvic junction obstruction: the effect of pyeloplasty on renal function.

We studied preoperatively and postoperatively 41 children who underwent pyeloplasty for correction of unilateral ureteropelvic junction obstruction. Conventional radiological studies and quantitative radioiodine hippurate renal scans were obtained to assess the effect of pyeloplasty on the appearance of the kidney and its function. Analysis of the data suggests that the degree of improvement in renal function is related primarily to the age at which the surgical correction is accomplished and whether infection has occurred preoperatively.

Surgical treatment of renal artery aneurysms.

Twenty-seven patients have undergone surgical treatment of renal artery aneurysms and the classification, radiographic features and complications of these aneurysms are reviewed. Aortorenal bypass is the preferred method of in situ revascularisation. Extracorporeal microvascular branch arterial reconstruction is reserved for patients with complex intrarenal aneurysms. Removal of the aneurysm with preservation of the involved renal unit is possible in most cases.

Effects of circumcision on male sexual function: debunking a myth?

PURPOSE: Claims of superior sexual sensitivity and satisfaction for uncircumcised males have never been substantiated in a prospective fashion in the medical literature. We performed such a study to investigate these assertions. MATERIALS AND METHODS: The Brief Male Sexual Function Inventory (BMSFI) was administered to sexually active males older than 18 years before undergoing circumcision. After a minimum interval of 12 weeks after the operation, the survey was again administered. The 5 domains of the BMSFI (sexual drive, erections, ejaculation, problem assessment overall satisfaction) were each given a summed composite score. These scores before and after circumcision were then analyzed by Wilcoxon signed-rank testing. RESULTS: All 15 men who participated in the study between September 1999 and October 2000 were available for followup. Mean patient age plus or minus standard deviation was 36.9 +/- 12.0 years. There was no statistically significant difference in the BMFSI composite scores of reported sexual drive (p >0.68), erection (p >0.96), ejaculation (p >0.48), problem assessment (p >0.53) or overall satisfaction (p >0.72). CONCLUSIONS: Circumcision does not appear to have adverse, clinically important effects on male sexual function in sexually active adults who undergo the procedure.