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Biomedical subjects

D Rampling

Publications and source records attributed to D Rampling.

17 recordsLinked to original sources

Histopathological reporting of paediatric cutaneous vascular anomalies in relation to proposed multidisciplinary classification system.

BACKGROUND: The terminology applied to vascular anomalies has been variable in previously published literature making interpretation suboptimal. The International Society for the Study of Vascular Anomalies (ISSVA) has proposed a revised classification based on clinical features and histopathological findings. This classification is increasingly being accepted as clinically useful and a platform for future studies. AIMS: To examine the extent to which the ISSVA classification can be practically applied to diagnostic histopathological specimens. METHODS: Cutaneous vascular lesions received in a single paediatric pathology unit during a 2-year period (2004-5) were reviewed, including glucose transporter protein 1 (GLUT1) immunostaining where required, and lesions were reclassified according to the ISSVA classification. RESULTS: 144 specimens were identified. Appropriate full clinical information was provided in only 17% of cases at submission. Infantile haemangiomas comprised 46% of cases, 18% of which were regressive type, initially inaccurately identified as vascular malformations before GLUT1 immunostaining. 30% of lymphatic malformations and all lymphovenous malformations were previously classified as vascular malformations, not otherwise specified. CONCLUSIONS: The ISSVA classification of vascular anomalies provides a useful framework for histopathologists to classify vascular anomalies. However, meaningful and appropriate use of such a system is dependent on the adequacy of clinical information provided and routine use of immunohistochemical markers.

Biomarkers, Tumor↗

Transbronchial biopsies provide longitudinal evidence for epithelial chimerism in children following sex mismatched lung transplantation.

BACKGROUND: Recent reports have shown evidence of host derived parenchymal engraftment in several human allografts including the lung, leading to speculation that stem cell therapy may be useful for lung repair in diseases such as cystic fibrosis (CF). To date, previous studies have looked at single surgical or autopsy specimens and no longitudinal studies have been reported. The aim of this study was to assess whether transbronchial biopsies could be used to study the time course of chimerism following lung transplantation. METHODS: Specimens of archived transbronchial lung biopsies from five time points taken for clinical purposes from two boys who had received a sex mismatched heart-lung transplant for end stage CF were examined. Sections were dual stained for cytokeratin (epithelium) and a mixture of leucocyte common antigen and CD68 for inflammatory cells. Co-localisation of cells containing a Y chromosome was confirmed by fluorescent in situ hybridisation. RESULTS: Evidence of chimerism was found in up to 6.6% of epithelial cells in bronchial (median 1.4% (range 0-6.6)) and alveolar (median 3.6% (range 2.3-5.5) tissue without apparent evidence of fusion. This engraftment was seen as early as 3 weeks and remained relatively constant up to 37 months. CONCLUSIONS: This study has demonstrated proof of principle for long term chimerism in lung epithelium. Transbronchial biopsies may provide a new method for studying the kinetics of stem cell engraftment in the lung.

Biopsy↗

Neuroblastoma in monozygotic twins--a case of probable twin-to-twin metastasis.

Concordance for neuroblastoma in monozygotic twins has been reported only rarely, and the cause of the shared pathology has not been established. We describe a case of infant monozygotic twins developing tumours that were morphologically, clinically and molecularly indistinguishable, but with a delay of 6 months between times of presentation. Both tumours were metastatic and had amplification of MYCN and deletion at 1p36. Twin 1, who developed neuroblastoma first, had constitutional karyotype abnormalities in at least 5% of peripheral blood mononuclear cells involving 1p and 3p, and a deletion of 1q44 in 21% of cells. Twin 2 had a normal constitutional karyotype and lacked rearrangement or deletion of these regions. We propose an acquired neuroblastoma predisposition specific for twin 1, and in utero metastatic spread of tumour cells to twin 2 via the shared placental circulation.

DNA, Neoplasm↗

Paraffin wax embedded muscle is suitable for the diagnosis of muscular dystrophy.

AIM: At present, the diagnosis of muscular dystrophy is made by means of immunohistochemistry on frozen sections. The aim of this study was to develop a sensitive and reproducible immunohistochemical method for use on formalin fixed, paraffin wax embedded sections for the demonstration of dystrophin associated proteins and other muscle associated antigens. METHODS: All the cases studied were from the files of the department of histopathology, Great Ormond Street Hospital for Children NHS Trust. Immunohistochemistry was performed on paraffin wax embedded sections with heat mediated antigen retrieval and overnight incubation with the antibodies at room temperature. Four different pretreatment buffers were tested in the attempt to optimise the immunostaining. Frozen sections were run in parallel for direct comparison. RESULTS: All the antibodies except delta sarcoglycan gave strong, consistent immunostaining in paraffin wax embedded sections, comparable with the frozen sections. The most consistent results were obtained using citrate/EDTA as the pretreatment buffer. CONCLUSION: A reliable and reproducible technique has been established, using a heat mediated citrate/EDTA buffer antigen retrieval method, which works well for most of the antibodies needed to make the diagnosis of muscular dystrophy in formalin fixed, paraffin wax embedded sections. This technique overcomes some of the inherent problems encountered using frozen muscle tissue and it could become a valuable tool for the diagnosis of muscular dystrophy.

Biomarkers↗

Desmin expression in rhabdomyosarcoma: influence of the desmin clone and immunohistochemical method.

AIM: To determine which, if any, of five commercially available desmin clones is most reliable at labelling desmin filaments and whether the enhanced polymer one step (EPOS) method of labelling is of any advantage in the routine diagnostic laboratory. METHODS: Thirty four rhabdomyosarcomas from the files at The Hospital for Sick Children, Great Ormond Street, London, were studied. Four different desmin clones, DE-R-11, D33, DE-U-10, and PDE, were applied to each using the conventional extravidin biotin peroxidase method. The D33 clone was also applied using the EPOS method. RESULTS: The EPOS method incorporating D33 persistently scored more cells as desmin positive and was positive in four cases which were negative on staining with the other clones. CONCLUSIONS: The D33 desmin clone used with the EPOS method is more reliable for identifying desmin filaments in tumours than other desmin antibodies tested. Different desmin clones using a routine technique label different rhabdomyosarcoma cells and therefore it is justifiable to use more than one clone.

Desmin↗

Localized Leishmania lymphadenitis. Immunohistochemical studies.

Tissues from 10 patients with localized leishmania lymphadenitis were stained by immunoperoxidase technique for leishmanian antigens, immunoglobulins (Ig), complement, components, alpha 1-antitrypsin, and fibrin and by routine and chloroacetate esterase techniques. Lymph nodes with leishmania lymphadenitis showed a granulomatous process with a varying degree of necrosis, leishmanian amastigotes, abundant plasma cells, and focal fibrosis. Leishmanian antigens stained by rabbit anti-Leishmania tropica antiserum was detected in lymph nodes with granulomatous lymphadenitis (eight cases examined) and in a skin lesion but not in a lymph node showing only nonspecific hyperplasia. Positive antigen staining was seen in leishmanian amastigotes, granulomata, and (in three cases) vascular smooth muscles. Dominant plasma cell classes were IgG and IgE. Macrophages and granulomata stained positively for IgG and IgE (but not for IgM or IgA), faintly for C3, and strongly for alpha 1-antitrypsin. Mast cells were few. IgG and IgE may be involved in a specific way in this condition; formation of immune complexes with leishmanian antigens leads to immunologically mediated lysis of the host macrophages. This finding is important for the understanding of the pathogenesis of leishmania lymphadenitis and for effective elimination of the parasites.

Animals↗

Immunocytochemical study of 12E7 in small round-cell tumours of childhood: an assessment of its sensitivity and specificity.

12E7 is a monoclonal antibody to the MIC2 gene product and can be applied to formalin-fixed, paraffin-embedded tissue. The diagnostic utility of 12E7 as a marker of Ewing's sarcoma and peripheral neuroectodermal tumour was assessed. Immunocytochemical studies were performed on 120 small round-cell tumours from children and adolescents. Immunoreactivity for 12E7 was seen in 13 of 15 Ewing's sarcomas. 14 of 15 peripheral neuroectodermal tumours, four of 14 embryonal rhabdomyosarcoma, seven of 11 T-lymphoblastic lymphomas and one T-cell acute lymphoblastic leukaemia. Immunoreactivity was located on the cell-membrane of Ewing's sarcomas, peripheral neuroectodermal tumours and lymphoid tumours while rhabdomyosarcomas showed weak, cytoplasmic staining in differentiated rhabdomyoblasts. Studies on alveolar rhabdomyosarcomas (n = 10), acute myeloid leukaemias (3), B-lymphoblastic lymphomas (8), blastema-rich nephroblastomas (9), neuroblastomas (20) and retinoblastomas (10) as well as single examples of B-cell acute lymphoblastic leukaemia, Ki-1 anaplastic lymphoma of indeterminate phenotype and intra-abdominal desmoplastic tumour with divergent differentiation were negative. 12E7 is a sensitive marker for the Ewing's sarcoma/peripheral neuroectodermal group of tumours and is useful in distinguishing them from neuroblastoma and blastema-rich nephroblastoma. However, immunopositivity for 12E7 should be interpreted in conjunction with the results of neural and lymphoid markers.

Adolescent↗

Ascetic ideals and anorexia nervosa.

The asceticism that characterises anorexia nervosa, has received little attention in the literature. One reason for this omission may be our reluctance to transcend familiar paradigms. Asceticism implies a spiritual or religious foundation for the practices it denotes; moreover, the precise nature of the foundation is obscure. This paper examines the syndrome of anorexia nervosa within the historical context of the ascetic tradition, with particular reference to the life of Saint Catherine of Siena.

Anorexia Nervosa↗

Adverse effects of combined propranolol and chlorpromazine therapy.

The authors describe a woman with chronic schizophrenia who experienced delirium, grand mal seizure, and photosensitivity after the addition of propranolol to her neuroleptic regimen. The pharmacokinetic synergism of this combination may be hazardous for some patients.

Adult↗

Ephedrine-induced cardiomyopathy.

A young woman presented with congestive cardiomyopathy of unknown aetiology. She subsequently revealed a history of longstanding abuse of ephedrine-containing preparations. The case is reported to alert clinicians to a hazard of dependence on proprietary pharmaceuticals.

Adult↗

Abnormal mothering in the genesis of anorexia nervosa.

This report is the first to cite contemporary childhood sources in elucidating the significance of abnormal mothering for the genesis of anorexia nervosa. The claim for the unreliability of maternal recall in providing developmental data for anorexic patients is supported.

Adult↗

Anorexia nervosa: reflections on theory and practice.

Psychodynamic theory provides a critical element in the conceptual framework necessary for a therapist's understanding of the abnormal behavior exhibited by patients with anorexia nervosa. A model of the syndrome is presented here which the author has found useful in the ongoing treatment of patients. The paper has arisen out of a desire to clarify thinking and practice in the course of treating patients manifesting the classic syndrome identified in those whose symptoms are not secondary to physical disease or psychosis.

Adolescent↗