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Familial Sneddon's syndrome 总被引:4,自引:0,他引:4
Alexander Lossos Tamir Ben-Hur Ziva Ben-Nariah Claes Enk Moshe Gomori Dov Soffer 《Journal of neurology》1995,242(3):164-168
We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis. 相似文献
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In fetal rats whose dams were fed a low-protein diet, 35S sulfate uptake into the growth plate of the long bone and rib was higher than in the control group. The elution pattern of guanidine-HCl extract in gel chromatography revealed that the malnourished group had more high molecular weight proteoglycans in the dissociative condition and a larger aggregated portion in the associative condition than did the control group; however, the same chondroitin-sulfate chain size existed. Calcium content did not differ in both groups. Aggregated proteoglycan or a high molecular weight proteoglycan that existed in the malnourished group probably played an inhibitory role in calcification. Prenatal protein-energy malnutrition may delay the change of proteoglycan character, which could affect mineralization of fetal bones. 相似文献
4.
Udi Cinamon Ilana Avinoach Moshe Harell 《European archives of oto-rhino-laryngology》2002,259(10):540-542
Neurofibromatosis type 1 (NF 1) is a syndrome with a predisposition for benign and malignant tumor development. Of the malignant neoplasms, osteogenic sarcomas are rare but have been described. There are some reports of patients with neurofibromatosis type 1 with a parathyroid adenoma and hyperparathyroidism. Also, there are studies that imply that the parathyroid hormone plays a role in the regulation and modulation of oseogenic sarcomas in vitro. We report about a 50-year-old female suffering from neurofibromatosis type 1, with a 3-year documented history of untreated hyperparathyroidism and a parathyroid adenoma. The patient developed a mandibular osteogenic sarcoma. To our knowledge, this is the first reported case occurring in the mandible. The unusual tumor site for a patient with neurofibromatosis type 1, the conjugation with hyperparathyroidism and the rapid growth of an osteogenic sarcoma are intriguing. 相似文献
5.
Moshe Stein N. Haim Abraham Kuten Yafa Doron Yehudi T. Ben Arieh Yoram Cohen 《Journal of surgical oncology》1992,51(4):270-273
Thirty-three patients with primary gastrointestinal lymphoma (GIL) followed at Ankara University Medical School have been evaluated. The most frequent locations of the disease are the small intestine (48.4%) and the stomach (39.3%). The intermediate and high grade lymphomas constitute 84.8% of the cases. The mean age of the patients with small intestinal lymphoma is 28.7 years and 47.1 years for those with gastric lymphoma. The patients treated with surgery and chemotherapy (S+CT) have a longer survival than those treated with chemotherapy (CT) alone. In conclusion: 1) Small intestinal lymphoma occurs more frequently than gastric lymphoma in our study. 2) The median age of the Turkish patients with primary GIL is approximately 10 years less than those in the Western countries. 3) The therapeutic results of S+CT are superior to those of CT in the early stages of the disease. 相似文献
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Beeri Rachel; Gnatt Averell; Lapidot-Lifson Yaron; Ginzberg Dalia; Shani Moshe; Soreq Hermona; Zakut Haim 《Human reproduction (Oxford, England)》1994,9(2):284-292
Gene amplification occurs frequently in tumour tissues yet is,in general, non-inheritable. To study the molecular mechanismsconferring this restraint, we created transgenic mice carryinga human butyrylcholinesterase (BCHE) coding sequence, previouslyfound to be amplified in a father and son. Blot hybridizationof tail DNA samples revealed somatic transgene amplificationswith variable restriction patterns and intensities, suggestingthe occurrence of independent amplification events, in 31% (11/35)of mice from the FII generation but in only 3.5% (2/58) of theFII and FIV generations. In contrast, >10-fold amplificationsof the BCHE transgene and the endogenous acetylcholinesteraseand c-raf genes appeared in both testis and epididymis DNA from>80% of FIII mice. Drastic, selective reductions in testisBCHEmRNA but not in actin mRNA were detected by the PCR amplificationof testis cDNA from the transgenic mice, and apparently resultedin the limited transmission of amplified genes. The testicularamplification of the BCHE transgene may potentially representa general phenomenon with clinical implications in human infertility. 相似文献
8.
Marilena Vered Amos Buchner Dan Dayan Moshe Shteif Adi Laurian 《Journal of oral pathology & medicine》2004,33(2):125-128
A case of an unusual lesion from the maxilla is presented. Macroscopically, the lesion was solid and histologically consisted of 'multiple separate keratocysts' of varying size that infiltrated into the surrounding bone and soft tissues. Panoramic image and CT scans showed a multilocular honeycomb ill-defined radiolucency with infiltration into the maxillary sinus and floor of orbit. This lesion should be differentiated from similar odontogenic lesions, such as keratoameloblastoma and papilliferous keratoameloblastoma. As there was no evidence of follicles, islands of ameloblastoma, or papilliferous structures in the entire specimen, the lesion could not be diagnosed as either a keratoameloblastoma or a papilliferous keratoameloblastoma. The invasive and destructive growth behavior, the histopathological features, and the histochemical pattern of the collagen stroma imply that this solid lesion is a neoplasia. It is suggested that the proper term for this lesion is solid variant of odontogenic keratocyst. 相似文献
9.
Daphna Mezad Mordechai Hallak Mahmoud Huleihel Limor Gortzak-Uzan Ana Smolin Moshe Mazor 《Magnesium research》2002,15(3-4):247-252
Our objective was to evaluate the effect of intravenous magnesium sulphate administration to patients with preterm labour on maternal serum and amniotic fluid IL-1beta, IL-6, IL-10 and TNFalpha concentrations. Thirty-six patients at 24-34 weeks of singleton gestation, who presented with contractions (> or = 8 in 60 min) had amniocentesis to rule out intrauterine infection. The patients received intravenous MgSO4 for tocolysis. Twenty-six patients had amniocentesis performed before initiation of MgSO4 (controls) while 10 others had the procedure during tocolytic therapy (study patients). Magnesium, IL-1beta, IL-6, TNFalpha and IL-10 concentrations were measured. Study and control groups were statistically compared using Student t test. Mean magnesium levels were significantly higher in the study group (P < 0.01). There were no significant differences between the cytokines levels in maternal serum and in amniotic fluid between the groups. Our results suggest that the mechanism of magnesium as a tocolytic agent may not be mediated via the examined cytokines. 相似文献
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