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We report an unusual case of primary cutaneous embryonal rhabdomyosarcoma presenting as a solitary skin lesion on the anterior chest of a 20-month-old child. The tumor was characterized by small, round to oval, poorly differentiated cells. Immunohistochemically, the tumor was negative for NSE, S-100 protein, LCA, and keratin but positive for muscle-specific actin, myoglobin, desmin, and vimentin, thus indicating the presence of myogenous differentiation. Ultrastructural analysis demonstrated thick and thin filaments. Special studies showed no evidence of a primary rhabdomyosarcoma in the patient at a more typical location, nor was there any evidence of metastases. 相似文献
4.
Total anorectal reconstruction with a double dynamic graciloplasty after abdominoperineal reconstruction for low rectal cancer 总被引:7,自引:3,他引:4
Bastiaan P. Geerdes M.D. Frans A. N. Zoetmulder M.D. Ph.D Erik Heineman M.D. Ph.D. Egbert J. Vos M.Sc. Mart -Jan Rongen M.D. Cor G. M. I. Baeten M.D. Ph.D. 《Diseases of the colon and rectum》1997,40(6):698-705
PURPOSE: Total anorectal reconstruction with a double dynamic graciloplasty was performed after abdominoperineal reconstruction
(APR) for low rectal cancer. In four patients an additional pouch was constructed to improve neorectal motility and capacity.
The aim of this study was to evaluate the results in the first 20 patients and to report on the preliminary results of patients
with an additional pouch. METHODS: Twenty patients with a mean age of 52 (range, 25–71) years and a rectal tumor at a mean
of 3 (range, 0–5) cm from the anal verge were treated. In 14 patients the Miles resection, colon pull-through, and construction
of a neosphincter were performed in one session. Six patients had the double graciloplasty at an average of 4.1 (range, 1.1–8.8)
years after APR. In four patients a pouch was constructed with an isolated segment of distal ileum. RESULTS: After a mean
follow-up of 24 (range, 1–60) months after APR, none of the patients developed local recurrence, whereas four patients developed
distant metastasis. Fifteen of 20 patients were available for evaluation, and 5 patients were still in training. Of these
15 patients, 8 patients were continent (53 percent), 2 patients were incontinent, and in 5 patients the perineal stoma was
converted to an abdominal stoma. Failures were attributable to necrosis of the colon stump (n=2) and incontinence (n=3). At
26 weeks mean resting pressure was 44 (standard deviation (SD), 28) mmHg, and mean pressure during stimulation was 90 (SD,
46) mmHg at a mean of 35 (SD, 1.2) volts at 52 weeks. Mean defecation frequency was three times per day (range, 1–5). Of the
eight patients who were continent, six used daily enemas. Mean time to postpone defecation was 11 (range, 0–30) minutes. CONCLUSION:
In experienced hands, the double dynamic graciloplasty is an oncologically safe procedure that can have an acceptable functional
outcome in a well-selected group of patients. However, to improve the outcome, further modifications will be necessary. So
far, the addition of a pouch has not resulted in improved outcome.
Supported by the Profileringsfonds of the Maastricht University Hospital, The Netherlands, and by the Stichting Fondsenwervingsactie
Volksgezondheid, Amsterdam, The Netherlands.
Read in part at the meeting of The American Society of Colon and Rectal Surgeons, Seattle, Washington, June 9 to 14, 1995. 相似文献
5.
Five patients with orbital pseudotumor refractive to initial therapy are discussed. Three had a destructive granulomatous process associated with a sclerosing component. Two exhibited a predominantly lymphocytic infiltration. Chemotherapy with Prednisone (100 mg/day) and either Cytoxan (100 mg/day) or Chlorambucil (10 mg/day) in 5-day pulses is described. All patients responded clinically to this treatment without unfavorable side effects. 相似文献
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Osteosynthesis versus endoprosthesis in the treatment of unstable intracapsular hip fractures in the elderly 总被引:4,自引:1,他引:3
A. B. van Vugt W. M. Oosterwijk R. J. A. Goris 《Archives of orthopaedic and trauma surgery》1993,113(1):39-45
Forty-three elderly patients with an intracapsular hip fracture were selected for a prospective randomised trial comparing osteosynthesis (DHS) versus primary hemiarthroplasty (HA) with a 3-year follow-up. The duration of the operation and the perioperative blood loss were significantly shorter in DHS, but inadequate reduction and/or fixation led to serious problems in this group. Clinical morbidity was lower after DHS. No difference could be demonstrated in the mortality rates, fracture- or operation-related complications or the need for secondary intervention. Reintervention could be carried out without additional risk in both groups and did not lead to poor end results. Comparable results were obtained with both methods up to 24 months. At the 36-month follow-up, a significantly worse outcome could be demonstrated in the HA group. We conclude that osteosynthesis is justified as the primary treatment of displaced intracapsular hip fractures in elderly patients. Endoprosthetic replacement can be safely used in cases where osteosynthesis has failed. 相似文献
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Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
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M Losekoot E Hoogendoorn R Olmer C C Jansen J C Oosterwijk A M van den Ouweland D J Halley S T Warren R Willemsen B A Oostra E Bakker 《Journal of medical genetics》1997,34(11):924-926
The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to the clinical phenotype. Here we describe a prenatal diagnosis performed in a female from a fragile X family carrying a large premutation. In chorionic villus DNA of the male fetus the normal maternal CGG allele and a normal pattern on Southern blot analysis were found in combination with the FRAXAC2 and DXS297 allele of the maternal at risk haplotype. A second chorionic villus sampling was performed giving identical results on DNA analysis and, in addition, expression of FMRP was shown by immunohistochemistry. We concluded that the male fetus was not affected with the fragile X syndrome. Subsequent detailed haplotype analysis showed a complex recombination pattern resembling either gene conversion or a double crossover within a 20 kb genomic region. 相似文献