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Biomedical subjects

C W Chow

Publications and source records attributed to C W Chow.

At least 145 records · Page 8Linked to original sources

Congenital absence of pyramids and its significance in genetic diseases.

Bilateral absence of the pyramids, best assessed in transverse sections of the medulla oblongata, was found in 0.7% of 2,850 autopsies performed at the Royal Children's Hospital, Melbourne (Australia). A strong association with some forms of congenital aqueductal stenosis was observed and evaluated in further cases ascertained through other hospitals. The very strong association observed with X-linked congenital aqueduct stenosis may be useful diagnostically but must be evaluated in other centres. At least, the presence of pyramids seems strong evidence against this diagnosis. Absence of the pyramids was also observed in several known or new genetic syndromes - Meckel's syndrome, the HARD syndrome, two sisters with congenital aqueductal stenosis and polydactyly and two families with microcephaly and arthrogryposis.

Abnormalities, Multiple↗

Sweat gland carcinomas in children.

The clinicopathologic features of sweat gland carcinomas in three girls and one boy, aged 7 months to 10 years, are presented. The histologic and ultrastructural features suggested malignant clear cell acrospiromas. Rapid extensive metastases developed in two and early local recurrence in one. No obvious effect of chemotherapy was noted in disseminated disease. Wide local excision is advised because of the risk of local lymphatic infiltration.

Adenoma, Sweat Gland↗

Short segment Hirschsprung's disease as a cause of discrepancy between histologic, histochemical, and clinical features.

Diagnostic difficulty may be encountered in Hirschsprung's disease when discrepancy is noted between the histochemical pattern, the presence or absence of ganglion cells, and clinical features. This is mainly a problem in neonates, and the cause of the discrepancy is probably due to biopsy specimens being taken above a short aganglionic segment. When short segment Hirschsprung's disease is suspected, a low suction biopsy should be taken for the demonstration of acetylcholinesterase activity.

Acetylcholinesterase↗

Malignant carcinoid tumors in children.

The clinical, light microscopic, and ultrastructural features of four malignant carcinoid tumors in children, three boys and one girl ages 8--14 years, are described. Extensive metastases to multiple organs were present in three, and in the fourth child there was diffuse local infiltration of the bowel wall, which resembled a lymphoma. The primary tumor arose in the ileum in one child and in the transverse colon in another. In two children, the primary sites could not be determined; one patient is still alive and in the other, permission for autopsy was refused. Electron microscopy showed moderate numbers of neurosecretory granules in some cells in all cases. One patient with extensive metastases showed repeated partial response to radiotherapy and chemotherapy. Eight benign appendiceal carcinoids were seen at the same hospital over the same period, suggesting malignant carcinoids may be more common in children than often assumed.

Adolescent↗

Bronchial mucous glands in the newborn with cystic fibrosis.

The size of bronchial mucous glands in 21 patients who presented with meconium ileus and died at less than three weeks of age were compared quantitatively with that of 28 control patients. There were no significant differences by most methods of comparison. However, pulmonary infection was seen in a higher percentage of cystic fibrosis patients. The absence of mucous gland hyperplasia at birth suggests that mucous obstruction of airways may not be primarily responsible for the increased susceptibility to respiratory tract infection in cystic fibrosis, but when present later in life may aggravate the infection.

Bronchi↗

Colectomy and cancer in Melbourne children with ulcerative colitis.

A search of hospital records dating from 1945 to 1977 inclusive identified 67 children with a definite diagnosis of ulcerative colitis, and 26 in whom the diagnosis was suspected, but not proven. Actuarial analysis of follow-up data available in December, 1978, indicated 75% patient survival after 18 years of disease, and 50% colon survival after 12 years of disease. Deaths were due to cancer (2 patients), complications of surgery (four patients) and incidental respiratory tract infection (one patient). Cancer risk was found to be lower than expected, which does not support the argument for prophylactic colectomy in childhood-onset disease. Restricting colectomy to medical indications during childhood will minimize the complications of colectomy without exposing the patient to risks greater than those of surgery itself.

Actuarial Analysis↗

Histochemical criteria for the diagnosis of Hirschsprung's disease in rectal suction biopsies by acetylcholinesterase activity.

Histochemistry to demonstrate cholinergic fibers in rectal suction biopsies is a reliable method to diagnose or exclude Hirschsprung's disease. The histochemical criterion of a positive reaction consists of the presence of many coarse discrete cholinergic fibers in the muscularis mucosae and in the immediately subjacent submucosa, best assessed under medium power with the condenser lowered. A marked increase in cholinergic fibers in the lamina propria is seen only in some cases of Hirschsprung's disease. At least some cases of Hirschsprung's disease may be the result of destruction of ganglion cells by a viral infection in the intrauterine and early postnatal life.

Acetylcholinesterase↗

EWS/FLI-1 fusion transcript detection and MIC2 immunohistochemical staining in the diagnosis of Ewing's sarcoma.

Ewing's sarcoma (ES) and other primitive peripheral neuroectodermal tumors (pPNETs) can present a significant diagnostic problem, as they may morphologically resemble other small round cell tumors (SRCTs) of childhood. However, ES/pPNET is known to carry a characteristic t(11;22)(q24;q12), the detection of which may aid diagnosis. The recent identification of the EWS and FLI-1 genes flanking the translocation break point has enabled reverse transcriptase-polymerase chain reaction (RT-PCR) to be used to detect the putative chimeric transcription factor mRNA produced by the fusion gene. We have assessed the RT-PCR method of detection by examining 40 cases of ES for the presence of EWS/FLI-1 transcripts. Twenty-six (76%) of the 34 cases with intact mRNA yielded fusion transcripts. Four different transcript sizes were detected and two tumors contained two transcripts of different size. No transcripts were detected in a control group of non-ES/pPNET SRCTs. Eight cases with intact mRNA were transcript negative. The MIC2 cell surface antigen, which is reported to be present in over 95% of ES/pPNETs, was present in 32 of 33 tumors (97%), including all 24 EWS/FLI-1 transcript-positive cases examined. Hence MIC2 is a useful screen for ES, with RT-PCR detection of t(11;22) being the optimal method for confirming the diagnosis.

12E7 Antigen↗

Molecular analysis in the diagnosis of pediatric lymphomas.

Thirty-five pediatric lymphomas were categorized as either Burkitt's lymphoma (BL), lymphoblastic lymphoma (LL), or large cell anaplastic lymphoma (LCAL) by histological and immunophenotypic methods. They were further characterized by molecular analysis of their antigen receptor genes. Southern blot (SB) and polymerase chain reaction (PCR) techniques were compared in the detection of immunogloblin heavy chain gene (IgH) rearrangement. T cell receptor beta (TCR beta) rearrangements were analyzed by SB and TCR gamma gene rearrangements by PCR. The PCR method of IgH and TCR gamma gene analysis was preferred to the SB methods, because there were fewer equivocal results in IgH gene analysis, TCR gamma rearrangement was more frequently detected than TCR beta in both lymphoblastic and large cell anaplastic lymphomas, and the PCR technique was more rapid, required less DNA, and could be used with archival material. In addition, analysis of IgH gene rearrangement by PCR was more specific for assessing B cell lineage. Although most of the molecular data were easily interpreted, occasional ambiguous results were seen due to genetic events other than antigen receptor gene rearrangement affecting the genetic analysis. Thus, it is imperative to interpret these genetic data in the context of adequate morphological and immunophenotypic analysis.

Blotting, Southern↗

Recurrent rhabdomyosarcoma after 25 years: a possible association with estrogen and progestogen therapy.

PURPOSE: We describe a patient with a late recurrence of rhabdomyosarcoma and review the relevant literature. PATIENT AND METHODS: Recurrent rhabdomyosarcoma occurred in a young woman 25 years after initial presentation, with the onset of symptoms 3 months after commencing hormonal replacement therapy with estrogen and progestogen. The primary and recurrent tumors were immunocytochemically identical. The primary tumor was steroid receptor negative but the recurrent tumor was estrogen and progesterone receptor positive. DISCUSSION: Estrogen priming can stimulate synthesis of progesterone receptors which may modulate mitotic activity, which suggests a functional role for receptor positive cells in modulating cell growth when sex hormone primed, with a possible tumor induction role of sex hormone replacement therapy. CONCLUSION: The late tumor recurrence may have been induced by estrogen and progestogen treatment.

Adult↗

Giant cell reparative granuloma of the humerus.

A 14-month-old girl presented with a fracture through a giant cell reparative granuloma of the distal humerus. This is the first report of such a lesion in a long bone in childhood. Following curettage, the lesion healed with full restoration of elbow function and normal growth.

Diagnosis, Differential↗

Squamous cell carcinoma of the tongue in a child with Fanconi anemia: a case report and review of the literature.

This report documents a case of squamous cell carcinoma (SCC) of the tongue in a child with Fanconi anemia (FA). FA is an autosomal recessive syndrome defined by chromosomal breakage in response to diepoxybutane or mitomycin C in which many patients present with pancytopenia, hypoplastic bone marrow, hyperpigmentation of the skin, skeletal malformations, small stature, hypogonadism, and chromosomal aberrations. Such patients are prone to the development of hematological malignancies and squamous cell carcinoma, especially of the head and neck. Although FA appears to be genetically heterogeneous, all cases display abnormalities of DNA repair. A gene defective in one of the four subsets of FA patients has been defined. Defects in this gene are thought to play a role in the development of neoplasia in FA patients. However, many other factors may also contribute to the development of malignancies, including immune deficiencies, therapeutic strategies, and bone marrow transplantation. This report reviews the association of FA and SCC and highlights the many factors involved in the development of neoplasia within a single patient, including FA, cyclophosphamide, immunosuppression, X-irradiation, and chronic oral graft-versus-host disease. In addition, the human papillomavirus status, although negative, is documented for the first time in such a case.

Adolescent↗

The balanced scorecard: a potent tool for energizing and focusing healthcare organization management.

The current environment for healthcare organizations contains many forces demanding unprecedented levels of change. These forces include changing demographics, increased customer expectations, increased competition, and intensified governmental pressure. Meeting these challenges will require healthcare organizations to undergo fundamental changes and to continuously seek new ways to create future value. This article provides explanation of a potent new management tool-the balanced scorecard-that can be used by healthcare organizations to meet these challenges. The article also presents the opinions of many high-level healthcare administrators that the balanced scorecard can be highly beneficial to healthcare organizations. It also summarizes these administrators' suggestions regarding the goals and measures that can make up an effective scorecard for a hospital as a whole, as well as for a specific subunit of a hospital. Interestingly, while no published report of balanced scorecard implementations in healthcare organizations exists, a number of administrators stated that they had fully implemented systems similar to the scorecard. These actions can be considered support for the scorecard's potential usefulness; at the same time, they suggest that some sharing of experiences will likely be available in the future. As all administrators are well aware, moving from concept to practice is often difficult. While the article includes some suggestions for scorecard development and implementation, each organization must engage in the full range of activities, from defining its mission to the selection of goals and strategies, and develop its own unique scorecard to assist progress toward the selected goals. As a starting point, Table 3 provides a timeline of some general events that may be common to all organizations during this process.

Benchmarking↗

Increasing the effectiveness of resource deployment in healthcare organizations.

This article suggests ways to enhance the effectiveness with which healthcare organizations deploy their resources. Specifically, the article: (1) reviews research findings from the academic literature that managers often continue, or even increase, resource allocation to unprofitable courses of action; (2) reports the results of a case study with hospital administrations that suggests that this tendency may exist in healthcare organizations; and (3) suggests ways for healthcare organizations to control the occurrence of such suboptimal actions, thereby increasing the effectiveness and timeliness of their resource deployment.

Attitude of Health Personnel↗