Urethral polyp in a young girl.
Explore the source record for details and available documents.
Child, Preschool↗
Biomedical subjects
A Kelsey
Publications and source records attributed to A Kelsey.
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
Individuals with naevoid basal cell carcinoma (Gorlin) syndrome are at increased risk of developing medulloblastoma in childhood. We have shown that approximately 5% of patients with Gorlin syndrome will develop this complication in the first few years of life, and in addition 10% of patients with medulloblastoma diagnosed at age 2 years or under have Gorlin syndrome. One out of three medulloblastomas occurring in patients with Gorlin syndrome was shown to have lost the wild-type allele on 9q, indicating that the Gorlin locus probably acts as a tumour suppressor in the development of this tumour. We have also confirmed this role in a basal cell carcinoma (BCC) from the same individual. Information from these families would suggest that Gorlin syndrome is more common than previously recognized and may not always be diagnosed on clinical grounds alone even in middle life.
Basal Cell Nevus Syndrome↗
Primary hepatic malignant tumor with rhabdoid features. A histological, immunocytochemical, and electron microscopic study of four cases and a review of the literature.
Malignant tumors of the liver with rhabdoid features (MTR) are uncommon: Only 14 previous cases are reported in the literature. These tumors are characterised morphologically by sheets of large polygonal cells with abundant eosinophilic cytoplasm containing a periodic acid Schiff's-positive hyaline globular inclusion and vesicular nuclei with a central prominent nucleolus. Immunohistochemically, the inclusions at least show positivity for vimentin and epithelial markers and sometimes for other antigens. Ultrastructurally, the inclusions are composed of whorled intermediate filaments. Despite the superficial resemblance to cells of muscle origin implied in the term rhabdoid, there is no immunohistochemical or ultrastructural evidence to support such a derivation. We describe four additional children with tumors of this type, in three of whom tumor cells showed focal membrane positivity for MIC-2 on immunostaining. Its expression in an hepatic MTR may indicate neuroepithelial differentiation. Hepatic MTR should be considered in the differential diagnosis of an undifferentiated primary liver tumor in an infant in whom the alpha-fetoprotein concentration is normal or only slightly elevated for age.
Antibodies↗
Interphase fluorescence in situ hybridization and reverse transcription polymerase chain reaction as a diagnostic aid for synovial sarcoma.
Identification of the t(X;18)(p11.2;q11.2) that is associated with a high proportion of synovial sarcoma can be a useful diagnostic aid. The translocation results in fusion of the SYT gene on chromosome 18 to either the SSX1 or the SSX2 gene, two homologous genes within Xp11.2. Two-color interphase fluorescence in situ hybridization and reverse transcription polymerase chain reaction were assessed as approaches to identify the rearrangement in well characterized cases. The presence of the translocation, and the specific chromosome X gene disrupted, were inferred from the configuration of signals from chromosome-specific centromere probes, paints, and markers flanking each gene in preparations of interphase nuclei. Rearrangement was found in two cell lines and eight of nine tumor samples, including analysis of five touch imprints. This was consistent with cytogenetic data in four cases and reverse transcription polymerase chain reaction analysis using primers known to amplify both SYT-SSX1 and SYT-SSX2 transcripts. The transcripts were distinguished by restriction with LspI and SmaI. Contrary to previous suggestions, there was no obvious correlation between histological subtype and involvement of the SSX1 or SSX2 gene. These approaches could also be applied to the identification of tumor-free margins and metastatic disease.
Adolescent↗
B-cell non-Hodgkin's lymphoma presenting as a primary renal tumour in a child.
A 6-year-old boy presented with a unilateral renal tumour thought to be a Wilms' tumour. He had started a treatment but review of the histology and immunohistochemical studies proved the tumour to be a primary renal B-cell lymphoma. This case illustrates the importance of an open-minded approach in the histological examination of small round cell tumours in the kidney and immunohistochemical studies in such cases are strongly advocated.
Antigens, CD↗
Primary malignant melanoma of meninges: atypical presentation of subacute meningitis.
Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriorate. Through cytologic examination of the cerebrospinal fluid malignant melanoma cells were identified, emphasizing the importance of this investigation in children with atypical meningitis. The diagnosis of malignant melanoma of the meninges was confirmed on brain biopsy.
Biopsy↗
Outcome measures: problems and opportunities for public health nursing.
Increasingly, outcome measures are being used to evaluate the effectiveness of health care. There are particular difficulties in establishing outcome measures for public health nursing, especially those that would demonstrate health gain. These problems arise as a result of the role of public health nursing and the nature of outcome measures. Possible solutions are the use of caseload and community profiles or the aggregation of client-negotiated health objectives. These solutions would also provide small area health information and outcome measures which would be sensitive to health needs in local communities.
Health Services Needs and Demand↗
Measure for measure.
Explore the source record for details and available documents.
Community Health Nursing↗
Ploidy changes between diagnosis and relapse in childhood renal tumours.
Ploidy patterns, analysed by flow cytometry (FCM) and image analysis (IA), were investigated at relapse in a group of six children with renal tumours [five Wilms' tumour (WT) and one bone metastasizing renal tumour of childhood (BMRTC)] and results compared with diagnostic profiles. IA detected one or more aneuploid populations in five of 12 tumours which were diploid on FCM. Patterns in three of six patients [two with unfavourable histology (UH) and one with favourable histology (FH)] were aneuploid at diagnosis and relapse, two patients (one FH, one BMRTC) developed aneuploid features at relapse and one patient with a tetraploid tumour was diploid at relapse. Histology patterns were similar at diagnosis and relapse in all patients. Three of six patients (two UH, one BMRTC) have died of disease. This report highlights (1) the superiority of IA over FCM in detecting aneuploid populations and (2) changes in ploidy status which have not previously been reported in these tumours. Overinterpretation of DNA status at relapse may prove misleading.
Aneuploidy↗
Dysembryoplastic neuroepithelial tumour as a potentially treatable cause of intractable epilepsy in children.
Dysembryoplastic neuroepithelial tumour (DNT) represents a morphologically unique and surgically treatable benign lesion typically associated with complex partial seizures (CPS). Although the radiological features are not pathognomonic the histology is quite distinct. They may account for a significant minority of children with intractable CPS. We present four histologically proven cases to demonstrate and discuss the range of radiological features. Recent recognition that CPS may be caused by a number of conditions including DNT emphasizes that all children with partial seizures should have radiological investigations early in their course.
Brain↗
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.
The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in both genital and renal development, is known to be mutated in DDS patients. The WT1 mutations in these patients are constitutional point mutations clustered in the zinc finger (ZF) encoding exons, particularly the exons encoding ZF2 and ZF3. The predicted functional alteration in WT1 is thought to underlie DDS aetiology either by abolishing binding of the WT1 ZF domain to its normal target DNA binding site(s), perhaps blocking the binding of the wild type WT1 present (dominant negative mutation), and/or by conferring the ability to recognise novel but inappropriate DNA binding sites (dominant mutation). We report here on the analysis of WT1 in a further five cases of DDS. In each case a constitutional point mutation was detected in either ZF2 or ZF3. Three of these mutations are novel, with two affecting the conserved histidine and cysteine residues crucial for ZF tertiary structure. The protein product of the third is predicted to lack ZF2, 3 and 4 as a result of a chain termination mutation, and is presumably incapable of binding DNA. However since the DDS phenotype is only elicited by mutations which lead to loss or alteration of ZF function (presumably DNA binding) while the N-terminal upstream portion of the gene remains intact, we suggest that a dominant negative mechanism is at work here.
Amino Acid Sequence↗
Occurrence of Duchenne dystrophy in Klinefelter's syndrome.
A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.
Child, Preschool↗
Ring chromosomes in a retroperitoneal lipoma of childhood.
We report here the presence of ring chromosomes in a retroperitoneal lipoma from a 12-year-old male. Ring chromosomes are strongly associated with the pathological subtype "atypical lipoma" in adults. In contrast, however, the tumour described here possesses no atypical features.
Aneuploidy↗
Inflammatory pseudotumor of the liver masquerading as a metastasis in a child treated for nephroblastoma.
A 3 1/2-year-old boy presented with a palpable hepatic tumor thought on clinical and radiological grounds to be a metastasis but which was found to be an inflammatory pseudotumor on histological examination. Eighteen months previously he had received chemotherapy and radiotherapy for a stage IV Wilms' tumor, which had been surgically excised 4 months after commencing treatment. This case illustrates the importance of obtaining a histological diagnosis in the management of patients with malignant tumors.
Child, Preschool↗
Detection of Epstein-Barr virus genomes in Hodgkin's disease: relation to age.
An investigation as to whether any particular subgroup of patients with Hodgkin's disease was particularly likely to be Epstein-Barr virus (EBV) genome positive was made on samples from 95 patients. These were grouped according to age and Hodgkin's disease subtype, and analysed using Southern blot analysis. Most samples from children or adults aged 50 years or over contained detectable EBV genomes; samples from young adults were only rarely positive. The differences in EBV positivity by age were highly significant, but there was no significant association between EBV and histological subtype after allowing for the effect of age. The results support the hypothesis that Hodgkin's disease in different age groups may have different aetiologies, and suggest that EBV does have a pathogenetic role in Hodgkin's disease in children and older age groups.
Adolescent↗
Are GP visits to the elderly practical in the inner city?
Explore the source record for details and available documents.
Aged↗
Ultrasonographic and biochemical abnormalities associated with the prenatal diagnosis of epignathus.
A case of epignathus, detected prenatally in a 20-week fetus, is described. The pathological features are discussed in relation to the biochemical and ultrasonographic findings.
Adult↗
A monoclonal antibody stains blastemal but not tubular components of Wilms' tumour.
The monoclonal antibody PAL-E is specific for endothelial cells in a wide variety of normal and tumour tissue. In normal kidney, PAL-E reacts exclusively with the endothelium of non-glomerular blood vessels. In Wilms' tumour, binding of PAL-E was not restricted to the endothelium; staining of blastemal cells was observed in seven out of eight cases examined. Mesenchymal and tubular components, if present in Wilms' tumour, were negative. In contrast, a monoclonal antibody to Factor VIII-related antigen (RFF-8-R-1) bound only to endothelial cells in these tumours. In fetal kidney, PAL-E binding showed a wider distribution than in adult kidney and both stromal and glomerular capillaries were stained. Tubules and non-endothelial stromal cells were negative. These results indicate that the reactivity of the monoclonal antibody, PAL-E, is not restricted to cells of endothelial origin in all tissues. The implications of these findings for the differentiation of Wilms' tumour are discussed.
Adult↗