Ploidy analysis and cerebrospinal fluid nephelometry as measures of clinical outcome in childhood choroid plexus neoplasia.
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Adolescent↗
Biomedical subjects
S J Qualman
Publications and source records attributed to S J Qualman.
Histopathologic features of composite ganglioneuroblastoma. Immunohistochemical distinction of the stromal component is related to prognosis.
Histopathologic features of 18 cases of composite ganglioneuroblastoma (CGNB) were studied with immunohistochemical staining techniques using antibodies against S-100 protein (S-100), ferritin (FER), and leukocytic common antigen (LCA). Cases of CGNB were divided on the basis of the morphologic features of neuroblastic elements into three prognostic subgroups: "Type A Intermixed," having individual microscopic nests of neuroblasts (N = 4, 100% survival); "Type B Intermixed," having microscopic aggregates of multiple neuroblastic nests (N = 6, 67% survival); and "Nodular," having grossly visible nodule(s) of neuroblastic proliferation (N = 8, 0% survival). Survival rates are significantly different for the prognostic subgroups (P less than 0.025). Each prognostic subgroup demonstrated an immunohistochemically distinct pattern of stromal cell composition in the neuroblastic elements: Type A Intermixed had numerous S-100 cells and no FER cells, Type B Intermixed contained many S-100 cells and a moderate number of FER cells, and Nodular had few S-100 cells with many FER cells. The S-100 and FER scores, determined by counting the positive cells through a line sampling method, differed significantly between these prognostic subgroups. Lymphocytic aggregations in tumor tissue evaluated by volumetric assessment with LCA staining, on the other hand, showed no contribution in predicting the outcome of the patients. There was also an inverse relationship between S-100 and FER score, suggesting a relationship between the relative predominance of these stromal cell types, tumor histopathologic features, and the biologic behavior of CGNB.
Cell Aggregation↗
Management of Hirschsprung's disease in children with trisomy 21.
Thirteen infants and children with trisomy 21 have been treated for Hirschsprung's disease since 1975. Clinical presentation of Hirschsprung's disease included constipation (five); neonatal intestinal obstruction (four); enterocolitis (three); and meconium plug syndrome (one). Additional associated congenital anomalies occurred in 10 patients, of which complex cardiac disease accounted for 25% of the defects. Seven children underwent definitive operation: Duhamel pull-through (four); Soave pull-through (two); and anal myectomy (one). Satisfactory continence occurred in all but one child. Enterocolitis developed in seven patients (54%): two at diagnosis of Hirschsprung's disease; three after colostomy; and two after pull-through. Five children died (38%): one from enterocolitis, two from cardiorespiratory failure after recovery from enterocolitis, and two from end-stage cardiac disease. Children with trisomy 21 can safely undergo definitive operation for Hirschsprung's disease but are at high risk for developing enterocolitis and complications of associated cardiac disease.
Child↗
Clostridium difficile invasion and toxin circulation in fatal pediatric pseudomembranous colitis.
The direct involvement of Clostridium difficile in the lesional tissue of pseudomembranous colitis has not been demonstrated; the organism's effects have been assumed to be strictly toxin mediated. Because C. difficile cytotoxin may be found incidentally in the intestinal lumina of asymptomatic infants, the role of the organism in a variety of pediatric intestinal diseases is uncertain. The authors studied seven cases of fatal pediatric pseudomembranous colitis in which the presence of C. difficile was uniformly demonstrable in lesional tissues with the use of both an intestinal spore stain and a specific immunostain. The patients had either underlying Hirschsprung's disease or hematologic malignancy; the striking pathologic features peculiar to these patients were altered mucosal mucin and immunologic barriers in the former group and neutropenia in the latter. Two patients had demonstrable circulating cytotoxin in serum or ascitic fluid, and C. difficile was identified invading colonic mucosa or submucosa. Such phenomena did not occur in control pediatric patients with multiple other intestinal lesions. Altered host factors may be responsible for the intestinal invasion of C. difficile and its systemic toxin circulation in cases of fatal pediatric pseudomembranous colitis.
Adolescent↗
Intestinal metaplasia is age related in Barrett's esophagus.
The correlation among cellular characteristics of Barrett's esophagus, patient age, and malignant neoplasm is not well documented. This study, which describes a population of 66 patients with Barrett's esophagus spanning 1 to 80 years of age, analyzes the cellular constituents of their lesional tissues by endoscopic biopsy and histochemical and morphometric studies. Goblet cell metaplasia, identified in 50% (n = 14) of pediatric patients, increased significantly to involve 84% (n = 32) of biopsy specimens from adult patients with Barrett's esophagus. This increase was exponential by linear regression analysis (R2 = .64) between the ages of 5 and 29 years. Pediatric patients usually had 25 or less goblet cells per square millimeter of Barrett mucosa with no identifiable epithelial dysplasia or cancer; Nissen fundoplication lessened esophageal inflammation, but the Barrett mucosa persisted. Goblet cell metaplasia maintained a plateau (mean of 57 cells per square millimeter of Barrett mucosa) between the ages of 41 and 80 years. Dysplasia, in situ carcinoma, or invasive carcinoma was found in patients with Barrett's esophagus who were aged 41 years or older. This study demonstrates persistence of Barrett mucosa, increased incidence of goblet cell metaplasia, and predictable changes in goblet cell number with advancing patient age. The relationship between Barrett mucosa and malignant neoplasm remains uncertain, but the goblet cell may serve as a marker of disease chronicity in which setting neoplasia evolves.
Adolescent↗
The pathophysiology of Hirschsprung's-associated enterocolitis: importance of histologic correlates.
To more clearly define the pathophysiology of Hirschsprung's-associated enterocolitis (HAEC), this study comprehensively evaluates the gastrointestinal tissue of a group of infants with clinical HAEC. A pathologic grading system that demonstrates a progressive sequence of histologic changes specific for HAEC is established. The grading system correlates closely with clinical enterocolitis and may prove to be a useful method for early detection of infants at risk for the development of clinical HAEC. A significant alteration of intestinal mucins with an increase in neutral mucins and a decrease in acidic-sulfomucins was identified in HAEC tissue specimens. Enterocyte-adherent organisms were present in 39% of HAEC tissue specimens. The pathogenesis of HAEC may result from an alteration in intestinal mucins that may allow for the subsequent adherence of enteropathogenic organisms to enterocytes. The enterocyte-adherent organisms have the potential to induce an enterocolitic process and may contribute to both the intestinal and systemic manifestations of HAEC.
Enterocolitis↗
The piebald-lethal murine strain: investigation of the cause of early death.
Forty-eight piebald-lethal (PL) mice with distal aganglionosis and 42 normal littermates (LM) were studied to determine the cause of early death. PL mice were noted to be smaller than their LM and to have normal albumin and immunoglobulin levels for the first 30 days of age. As PL mice aged, a significant decline in albumin with a concomitant rise in immunoglobulin levels was demonstratable. Systemic sepsis with enteric organisms was found in 10% of sacrificed PL mice and in 38% of spontaneously dying PL animals. Histologic examination of PL aganglionic and ganglionic colon demonstrated no evidence of enterocolitis. Ganglionic colon of PL mice contained a flattened, thinned mucosa. The early death of PL mice is related to generalized debilitation from prolonged distal colonic obstruction resulting in a decrease in immunologic integrity and an increased susceptibility to sepsis.
Aging↗
Alteration in gastrointestinal peptide tissue levels in rejecting small bowel transplants.
Gastrointestinal (GI) peptide tissue levels were measured following intestinal transplantation in rats and evaluated as a possible early marker of transplant rejection. Vascularized syngeneic and allogeneic jejunal transplants were performed in rats without immunosuppressive therapy. Serial tissue samples of transplanted intestine were obtained from each group of animals. Baseline levels of peptides were determined in nontransplanted jejunum of the same animals. Results were correlated with histology at all experimental time points. Tissue levels of gut peptides (somatostatin, vasoactive intestinal peptide and substance P) were determined by two methods--immunoperoxidase staining and radioimmunoassay. Normal levels of gut peptides in syngeneic bowel were maintained up to 1 year after transplantation. Allogeneic bowel showed a progressive decline in gut peptide concentrations simultaneously with (or preceding) histologic evidence of rejection. The monitoring of GI peptide tissue levels may prove to be a useful method of detecting small bowel transplant rejection.
Animals↗
Pathologic features of extraosseous Ewing's sarcoma: a report from the Intergroup Rhabdomyosarcoma Study.
Eighty-four cases of extraosseous Ewing's sarcoma (EOE) were found during the pathology review of the Intergroup Rhabdomyosarcoma Study I and II. Patients commonly presented during or after adolescence with the most common primary sites including the trunk, extremities, and retroperitoneum. Males were slightly more affected. Histologic sections of 74 tumors in the pathology repository were re-reviewed with attention to rosette formation (positive in 18 cases) and glycogen deposition (++ in 21, + in 36, +/- in 11, and - in 2 of 70 cases examined). Fourteen tumors (7 with rosettes and 7 without) were selected for immunohistochemical and ultrastructural studies, and 13 showed single or multiple neural markers (neuron-specific enolase in 8, S-100 protein in 6, and neurosecretory-type granules in 9). These possible cases of neural EOE could be divided into three subgroups: tumor with bidirectional neuroblastic and schwannian differentiation (5 cases), tumor with monodirectional neuroblastic differentiation (7 cases), and tumor with monodirectional schwannian differentiation (1 case). EOE with a neural nature may be categorized into a spectrum of peripheral primitive neuroectodermal tumors. Clinical, histopathologic, and biologic differences between this disease and conventional sympathetic neuroblastoma are discussed.
Child↗
Hirschsprung's disease. Identification of risk factors for enterocolitis.
From 1975 to 1985, 80 infants and children were treated at a major pediatric hospital for Hirschsprung's disease, 19 (24%) of whom developed enterocolitis. In 9 neonates (18%) and 4 infants (29%) enterocolitis was present at diagnosis of Hirschsprung's disease, while 4 children acquired enterocolitis following a pull-through procedure. Significant risk factors for development of Hirschsprung's-associated enterocolitis (HAEC) were delay in diagnosis beyond 1 week of age and the presence of trisomy 21. HAEC did not occur more frequently in patients with long-segment aganglionosis, nor did an initial episode of HAEC confer a higher risk of recurrent enterocolitis. HAEC following a pull-through procedure was correlated with an anorectal stricture in three of four cases. Although neonates with HAEC had a low mortality rate (5%), their morbidity rate was 30% and their hospitalization was twice as long as neonates without enterocolitis.
Age Factors↗
Do regional variations in prevalence of cryptosporidiosis occur? The central Ohio experience.
We screened 2,780 consecutive stool specimens submitted for routine ova and parasite examination to assess the prevalence of cryptosporidiosis in a pediatric patient population in central Ohio. The stools were prepared by formalin-ethyl acetate concentration followed by cold Kinyoun acid-fast stain of the sediment. In addition, 912 consecutive intestinal biopsies were monitored for the presence of the parasite. Cryptosporidium oocysts were found in only 0.3 per cent of stool specimens (seven specimens from three patients) and in none of the intestinal biopsies. Due to this low prevalence of cryptosporidiosis, we conclude that routine screening of stool specimens for Cryptosporidium sp. is unnecessary in our patient population. Screening should be targeted to immune compromised patients and patients with persistent diarrhea and no apparent etiology. Our study also supports the concept that there are geographic variations in the prevalence of cryptosporidiosis.
Child↗
Farber disease: pathologic diagnosis in sibs with phenotypic variability.
We describe new pathologic findings in two sibs with Farber lipogranulomatosis. The first child, a 3-month-old boy, presented with only hepatosplenomegaly and had a fulminant clinical course suggestive of malignant histiocytosis. The second child, a 5 1/2-month-old girl, had the typical clinical presentation of Farber disease, with hoarseness and painful swollen joints. At autopsy, storage material was demonstrated in the second child at laryngeal and periarticular subcutaneous sites. Visceral involvement was prominent in both sibs, although not typical of the disease, and included a newly described nephropathy with elevated urine ceramide levels. Liver and spleen contained massive histiocytic infiltrates in association with elevated ceramide levels. Lymph nodes also contained histiocytic infiltrates but without the sinusoidal involvement typical of proliferative histiocytic disorders. These two cases demonstrate new pathologic anomalies in Farber disease, indicating that biochemical analyses of biopsy specimens may be necessary to establish the diagnosis of Farber disease when atypical clinical and morphologic anomalies are present.
Amidohydrolases↗
Pedunculated left ventricular rhabdomyoma.
A patient with an unusual left ventricular outflow tract obstruction caused by a solitary pedunculated left ventricular rhabdomyoma is described. Diagnosis was based on two-dimensional echocardiographic findings alone. The obstructive portion of the tumor was successfully removed from the interventricular septum by an aortic root approach.
Female↗
Neurofibromatosis and associated neuroectodermal tumors: a congenital neurocristopathy.
The synchronous occurrence of neurofibromatosis and neuroblastoma has been labeled in the recent literature as a chance event. We report 2 cases of newborn infants with congenital neurofibromatosis and a similar midline pattern of multiple Schwann cell and neuroblastic tumors; other types of ectomesenchymal tumor differentiation are documented, along with supportive ultrastructural and immunohistochemical studies. The tumors may take an aggressive, fatal course despite maximal multimodality antitumor therapy. These 2 cases are reported, with additional literature review, to document a clinically recognizable neurocristopathy that links neuroblastic tumors and neurofibromatosis.
Adrenal Gland Neoplasms↗
Adenocarcinoma of the hepatic duct junction. A reappraisal of the histologic criteria of malignancy.
The morphologic distinction between benign and malignant sclerotic processes involving the hepatic duct junction may be difficult. To determine reliable histologic criteria of malignancy, the authors reviewed 18 cases of clinically suspected adenocarcinoma of the hepatic duct junction (Klatskin tumor) retrieved from our autopsy and surgical pathology files over the last decade. The lesions were compared histologically to a variety of benign sclerotic biliary duct lesions, including four cases of primary sclerosing cholangitis (PSC) treated surgically over the same time period. A diagnosis of malignancy was confirmed histologically in 16 suspected Klatskin tumors, based on the presence of severe cytologic atypia (13) and/or perineural invasion (15). The tumor patients averaged 59 years of age with a male to female ratio of 2:1. Patients with segmental tumor resection and postoperative radiotherapy have survived as a group 6 months longer (average, 15.7 months) than those treated with drainage procedures alone (average, 9.5 months) (P less than 0.005), but have had extensive postoperative morbidity. In all the surgical specimens, tumor was present at one or more margins of resection. Primary sclerosing cholangitis patients were younger (average, 31 years of age) with a similar male predominance, but with a strong history of inflammatory bowel disease. All are alive up to 6.5 years since disease onset, with comparatively little postoperative morbidity. Two clinically diagnosed Klatskin tumors were not confirmed on histologic review. Both patients are alive at 1 and 3.5 years following onset of disease, having experienced little postoperative morbidity. Data indicate that Klatskin tumors are relatively aggressive malignancies, distinct from more indolent benign sclerotic disease, but occasionally mimicked by it clinically. Malignancy can be diagnosed histologically with adequate tissue sampling, thereby facilitating clinical decisions regarding radiotherapy or other palliative surgical procedures.
Adenocarcinoma↗
Phenotypic variability in siblings with Farber disease.
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Amidohydrolases↗
Intracellular Escherichia coli in urinary malakoplakia: a reservoir of infection and its therapeutic implications.
Urinary malakoplakia may pursue an aggressive clinical course with persistent infection, despite seemingly appropriate antibiotic therapy. The authors studied seven adult females with urinary malakoplakia. Specific immunocytochemical staining demonstrated intracellular Escherichia coli in malakoplakia tissue in four patients. In two of the four patients, the bacteria were present despite antibiotic-induced sterile urines at time of biopsy. Cessation of therapy consistently lead to recurrent bacteriuria in these patients. In one such patient, the intracellular bacilli were confirmed as E. coli by culture of crushed malakoplakia tissue and electron microscopic study; the organisms were a routine E. coli strain susceptible to multiple previously administered antibiotics. Only sequential treatment with bethanechol chloride and trimethoprim-sulfamethoxazole, however, eliminated the infection; all three drugs are thought to be capable of enhancing intracellular killing of bacteria. Conventional antibiotic therapy failed to halt progression of disease in other malakoplakia patients. The data indicate that intracellular bacteria may serve as a reservoir of persistent/recurrent infection in urinary malakoplakia. Optimal therapy should include therapeutic agents that may control intracellular organisms.
Adult↗
Esophageal Lewy bodies associated with ganglion cell loss in achalasia. Similarity to Parkinson's disease.
Achalasia and Parkinson's disease sometimes have similar clinical and neuropathologic features, including loss of esophageal peristalsis and neuronal loss within brainstem nuclei. We compared the neuropathologic features in autopsies of 8 achalasia patients, 22 Parkinson's disease patients (3 patients with dysphagia), and 50 age- and sex-matched controls. Degenerating ganglion cells in the esophageal myenteric plexus in 2 achalasia patients contained Lewy bodies, intracytoplasmic inclusions characteristically found in the brainstem in Parkinson's disease. Esophageal or colonic Lewy bodies were also found in 2 Parkinson's disease patients with dysphagia. No gastrointestinal tract Lewy bodies were identified in Parkinson's disease patients without dysphagia or in controls. One achalasia patient with esophageal Lewy bodies also had the inclusions and neuronal depigmentation in the vagal dorsal motor nucleus and substantia nigra, as seen in Parkinson's disease. Our findings indicate that a subset of achalasia and Parkinson's disease patients with dysphagia may have similar mechanisms of neuronal degeneration responsible for esophageal dysfunction.
Adult↗