New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement

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.     

An in vivo role for Trypanosoma cruzi calreticulin in antiangiogenesis

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.     

Anticoagulation in patients with atrial fibrillation,thrombocytopenia and hematological malignancy

Journal of Thrombosis and Thrombolysis - Managing anticoagulation in hematological malignancy patients with atrial fibrillation and thrombocytopenia is a clinical challenge with limited data. We...     

Indications for percutaneous endoscopic gastrostomy insertion: ethical aspects

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.     

Motivations of Persons with Psychiatric Disabilities to Work in Mental Health Peer Services: A Qualitative Study Using Self-Determination Theory

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.     

Short‐term plasticity following motor sequence learning revealed by diffusion magnetic resonance imaging

Current noninvasive methods to detect structural plasticity in humans are mainly used to study long‐term changes. Diffusion magnetic resonance imaging (MRI) was recently proposed as a novel approach to reveal gray matter changes following spatial navigation learning and object‐location memory tasks. In the present work, we used diffusion MRI to investigate the short‐term neuroplasticity that accompanies motor sequence learning. Following a 45‐min training session in which participants learned to accurately play a short sequence on a piano keyboard, changes in diffusion properties were revealed mainly in motor system regions such as the premotor cortex and cerebellum. In a second learning session taking place immediately afterward, feedback was given on the timing of key pressing instead of accuracy, while participants continued to learn. This second session induced a different plasticity pattern, demonstrating the dynamic nature of learning‐induced plasticity, formerly thought to require months of training in order to be detectable. These results provide us with an important reminder that the brain is an extremely dynamic structure. Furthermore, diffusion MRI offers a novel measure to follow tissue plasticity particularly over short timescales, allowing new insights into the dynamics of structural brain plasticity.