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Zvi Borochowitz Lorenzo Pavone Galia Mazor Renata Rizzo Hanna Dar 《American journal of medical genetics. Part A》1992,43(4):678-685
Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested. © 1992 Wiley-Liss, Inc. 相似文献
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Molina MC Ferreira V Valck C Aguilar L Orellana J Rojas A Ramirez G Billetta R Schwaeble W Lemus D Ferreira A 《Molecular and biochemical parasitology》2005,140(2):133-140
Angiogenesis leads to neovascularization from existing blood vessels. It is associated with tumor growth and metastasis and is regulated by pro- and antiangiogenic molecules, some of them currently under clinical trials for cancer treatment. During the last few years we have cloned, sequenced and expressed a Trypanosoma cruzi calreticulin gene (TcCRT). Its product, TcCRT, a 45 kDa protein, is more than 50% identical to human CRT (HuCRT). TcCRT, present on the surface of trypomastigotes, binds both C1q and mannan binding lectin and inhibits the classical activation pathway of human complement. Since TcCRT is highly homologous to a functional antiangiogenic fragment from HuCRT (aa 120–180), recombinant (r) and native (n) TcCRT were tested in their antiangiogenic effects, in the chick embryonic chorioallantoid membrane (CAM) assay. Both proteins mediated highly significant antiangiogenic effects in the in vivo CAM assay. This effect was further substantiated in experiments showing that the plasmid construct pSecTag/TcCRT also displayed significant antiangiogenic properties, as compared to the empty vector. Most likely, the fact that antiangiogenic substances act preferentially on growing neoplasic tissues, but not on already established tumors, is due to their effects on emerging blood vessels. The results shown here indicate that TcCRT, like its human counterpart, has antiangiogenic properties. These properties may explain, at least partly, the reported antineoplasic effect of experimental T. cruzi infection. 相似文献
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Livneh Nir Braeken Dionne Drozdinsky Genady Gafter-Gvili Anat Seelig Jaap Rozovski Uri Berger Tamar Raanani Pia Falanga Anna ten Cate Hugo Spectre Galia Leader Avi 《Journal of thrombosis and thrombolysis》2021,52(2):590-596
Journal of Thrombosis and Thrombolysis - Managing anticoagulation in hematological malignancy patients with atrial fibrillation and thrombocytopenia is a clinical challenge with limited data. We... 相似文献
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Percutaneous endoscopic gastrostomy (PEG) is a popular technique for long-term enteral nutrition. However it is not beneficial in all cases, and may even prolong the process of dying. The present article discusses the main indications for PEG insertion, and the ethical considerations involved. Three main questions need to be answered: (1) for what purposes should PEG be used; (2) for what type of patients, and (3) when should PEG be inserted in the natural history of the patient's illness? PEG is used in patients unable to maintain sufficient oral intake. It has been found to improve quality of life and/or to increase survival in patients with head and neck cancer, acute stroke, neurogenic and muscle dystrophy syndrome, growth failure (children) and gastric decompression. It led to no improvement in nutritional or functional status in patients with cachexia, anorexia, aspiration (and aspiration pneumonia), and cancer with a short life expectancy. Several court decisions have stipulated that PEG need be offered in patients in a persistent vegetative state or patients with senile dementia who have lost the ability for self-determination. Since the 30-day mortality after PEG insertion is very high for patients hospitalized in a general medical center, a 'cooling off' period of 30-60 days should be scheduled from the time of the PEG request to actual insertion. 相似文献
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