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排序方式: 共有223条查询结果,搜索用时 15 毫秒
1.
Iniencephaly is a rare, lethal, axial dysraphic malformation complex diagnosed on the basis of three cardinal features: deficiency of the occipital bone, cervicothoracic spinal retroflexion, and rachischisis. The majority of the patients also have various associated viscerae malformations. An iniencephalic female fetus delivered at 355/7 weeks of gestation revealed severe anomalies of the central nervous system and the spine: the cerebellar vermis was hypoplastic, the medulla oblongata was flattened and broadened, and the cervical canal was widely patent dorsally. The thoracolumbar spinal cord had a duplicated central canal and lacked a dorsal fissure, representing a minor degree of diastematomyelia. The cervicothoracic spine showed severe bony anomalies including aplasia and fusion of vertebral bodies. 相似文献
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Tawil A Cox JN Roth AD Briner J Droz JP Remadi S 《Pathology, research and practice》1999,195(2):105-11; discussion 113-4
Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal. 相似文献
4.
Terracciano LM Bernasconi B Ruck P Stallmach T Briner J Sauter G Moch H Vecchione R Pollice L Pettinato G Gürtl B Ratschek M De Krijger R Tornillo L Bruder E 《Human pathology》2003,34(9):864-871
Hepatoblastoma (HB) is the most common liver tumor in childhood and differs in its environmental risk factors and genetic background from hepatocellular carcinoma. HB is associated with inherited conditions such as familial adenomatous polyposis and Beckwith-Wiedemann syndrome, suggesting the importance of genetic abnormalities in the pathogenesis and progression of this disease. It has a very polymorphous morphology. A diverse range of cytogenetic alterations has been reported to date, the most frequent being trisomy 2 and trisomy 20. Thirty-five HB specimens from 31 patients (22 purely epithelial, 4 purely mesenchymal, 9 mixed) were examined by comparative genomic hybridization (CGH), a technique that enables us to screen the entire tumor genome for genetic losses and gains. Our aims were as follows: (1) to characterize chromosome abnormalities that appear in this tumor and (2) to identify possible differences between different histologic subtypes of HB. We found significant gains of genetic material, with very little difference in the number and type of alterations between the different histologic components of HB. The most frequent alterations were gains of Xp (15 cases, 43%) and Xq (21 cases, 60%). This finding was also confirmed by fluorescent in situ hybridization performed on nuclei extracted from 6 specimens. Other common alterations were 1p-, 2q+, 2q-, 4q-, and 4q+. We found no difference between different histologic subtypes, a finding that may be in agreement with the hypothesis of a common clonal origin for the different components. An hitherto-unreported high frequency of X chromosome gains may support the assumption that X-linked genes are involved in the development of this neoplasm. 相似文献
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Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? 总被引:2,自引:0,他引:2
D Ritscher A Schinzel E Boltshauser J Briner U Arbenz P Sigg 《American journal of medical genetics》1987,26(2):481-491
We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene. 相似文献
7.
W Briner 《Experimental and molecular pathology》1989,50(2):205-209
The locomotor activity (determined by open-field test) and analgesic response (measured by tail-flick latency) of rats were evaluated during exposure to novel stimuli and again after exposure to shock. The effects of shock stress on hearts and kidneys were evaluated. This study has found that the more active an animal is when exposed to a novel stimuli the more likely it is to develop renal damage or cardiac changes after shock. Shock stress was found to produce changes in locomotor activity and analgesic state, but shock did not correlate as well with cardiac changes as did the animal's response to novel stimuli. A novel system of evaluating renal damage, which correlated to behavioral changes and organ damage, is described. 相似文献
8.
C C Harris R J Jaszczak K L Greer W H Briner R E Coleman 《Journal of nuclear medicine》1984,25(12):1367-1370
Large differences in dose-calibrator readings are obtained if "high-purity" I-123 is assayed in different containers. Large correction factors are necessary for assaying another isotope of iodine, I-125, in a dose calibrator, because of absorption of the low-energy (28.4-keV, weighted mean) emissions. We found that up to 70% of the dose-calibrator response to I-123 can be due to characteristic x-rays with energies exactly the same as those emitted by I-125, and that dose-calibrator response to I-123 is also strongly affected by the absorption properties of the vial. An appropriate method to define I-123 activity uses a gamma camera with a medium-energy collimator to establish correction factors for dose-calibrator assay of I-123 in different containers. Correction factors for a plastic syringe and a thick-wall glass vial, were determined using this method. Measurement of I-123 activity in a copper absorber will eliminate the response to x-rays, and the gamma camera is useful in establishing the necessary correction factors. 相似文献
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10.
R Weber H Kuster R Keller T B?chi M A Spycher J Briner E Russi R Lüthy 《The American review of respiratory disease》1992,146(6):1603-1605
The microsporidian protozoan organism Enterocytozoon bieneusi has been found in enterocytes of the small intestine in patients infected with human immunodeficiency virus, and it has been recognized as an important cause of chronic diarrhea in this patient group. We report the first case of a 41-yr-old man with acquired immunodeficiency syndrome in whom microsporidia were detected in bronchoalveolar lavage fluid, transbronchial lung biopsies, stool specimens, and ileal biopsies. He experienced chronic diarrhea, wasting syndrome, chronic cough, and dyspnea. His chest roentgenogram showed a small left posterobasal infiltrate and a small left pleural effusion. The histologic pattern of microsporidia in his bronchial and ileal tissue and the cellular inflammatory reaction with intraepithelial infiltration by lymphocytes were identical to findings described in duodenal and jejunal Enterocytozoon bieneusi microsporidiosis. An association between the presence of microsporidia in the lung and the pulmonary symptoms has yet to be determined. It is not known whether pulmonary microsporidiosis was acquired by the aerosol route, by aspiration, or by hematogenous dissemination from the intestine. 相似文献