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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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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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BACKGROUND: The arbovirus infections West Nile fever (WNF) and sandfly fever (SFF) are both endemic in the Middle East. Despite the fact that the mosquito and sandfly vectors of these viruses are still found in Israel, SFF has not been reported since 1948, whereas outbreaks of WNF occur periodically. It is suspected that some of the cases of nonspecific febrile illnesses in Israel may in fact be either WNF or SFF. AIM: To determine the extent of past arbovirus infections in subgroups of Israeli soldiers. METHODS: Sera from random samples of three groups of healthy soldiers aged 18-20 (n=273), 21-30 (n=497), and 40-55 years (n=285) were examined for IgG and IgM antibodies to West Nile virus (WNV), sandfly fever Sicilian virus (SFSV), and sandfly fever Naples virus (SFNV), using an ELISA method. RESULTS: The prevalence of antibodies increased with age for all three viruses examined, and ranged from 7.0%, 0, and 2.8%, for WNV, SFSV, AND SFNV, respectively, in soldiers aged 18-20 years, to 41.9%, 23.7%, and 30.8%, in those aged 40-55 years. The percentage of seropositives for IgG who were also IgM positive were 1.0%, 5.9%, and 3.4%, for WNV, SFSV, AND SFNV, respectively. 17.5% of the seropositives for WNV were also positive for SFSV, as compared with 5.7% among the WNV-seronegatives. Among the seropositives for WNV, 23.99% were positive for SFNV, compared with 9.1% of WNV seronegatives. 48.2% of seropositives for SFSV were positive for SFNV, as compared with 8.4% for SFSV-seronegatives. In the age agroup 40-55 years, there were significantly higher prevalence rates in those born in Israel compared with those born abroad. CONCLUSIONS: There is still significant exposure to WNV, SFSV, and SFNV in Israel. Arborviruses are probably responsible for many cases of non-specific febrile illness in this region.  相似文献   
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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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Introduction Individuals with psychiatric disabilities have low rates of employment and occupational rehabilitation success. Mental health peer services are a new occupational modality that opened a promising occupational path: persons with serious mental illnesses employed to provide support to others with psychiatric conditions. However challenges to successful peer work exist. Work motivation is central to understanding and supporting peer workers, yet little is known about sources of motivation to work as mental health peer providers. The aim of this study was to identify what drives individuals to mental health peer work using self determination theory (SDT). Methods Motivations of 31 mental health peer workers were explored as part of a larger study. A theory driven approach was employed to emerging qualitative data using SDT concepts: external motivation and internally regulated motivations derived from basic needs (autonomy, competence, relatedness). Results External motivations included generic occupational goals and getting away from negative work experiences. Internal motivations corresponded with SDT basic needs: autonomy met-needs was reflected in having freedom to disclose and finding that work accords with personal values; competence met-needs was reflected in using personal experience as a resource to help others; and relatedness met-needs were reflected in having opportunity to connect intimately and reciprocate with consumers. Conclusion This study identified external and internal motivations of persons with psychiatric disabilities to work as peer providers—a novel occupation in mental health. Employing personal experience and enabling peer contact emerge as major motivational tenets of mental health peer work. According to SDT instrumental occupational goals are considered more external than satisfaction of basic psychological needs. The study demonstrates the applicability of SDT in the design of autonomy supported environments to promote work engagement and sustenance of mental health peer providers.  相似文献   
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