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61.
Andrea K. Vaags PhD Sarah Bowdin BM MSc MRCPCH Mary‐Lou Smith PhD Brigitte Gilbert‐Dussardier MD Katja S. Brocke‐Holmefjord MD Katia Sinopoli PhD CPsych Cindy Gilles MSc Tove B. Haaland MD Catherine Vincent‐Delorme MD Emmanuelle Lagrue MD Radu Harbuz MD Susan Walker PhD Christian R. Marshall PhD Gunnar Houge MD PhD Vera M. Kalscheuer PhD Stephen W. Scherer PhD Berge A. Minassian MD 《Annals of neurology》2014,76(5):758-764
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike‐waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders. Ann Neurol 2014;76:758–764 相似文献
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1 病例报告 男 ,16岁 .误食毒蕈后出现恶心 ,呕吐伴有腹痛、腹泻 4d,每日大便 4~ 12次 ,为稀水便 ,有心慌、气短、发热 ,在当地医院以“毒蕈中毒”救治 ,症状无缓解 ,为进一步治疗于 2 0 0 0 - 0 8- 31转入我院 .查体 :T37.8℃ ,P110次·min-1 ,R18次·min-1 ,BP14/ 9k Pa.全身皮肤黄染 ,巩膜重度黄染 ,心肺无阳性体征 .腹平坦 ,上腹部有压痛 ,肌紧张及反跳痛 ,肝脾未触及 ,肝区有叩击痛 ,移动性浊音阳性 .入院后患者出现烦躁 ,意识不清 ,心率时快时慢 ,血压不稳定 .肝功 :T- BIL 2 5 4.1μmol· L-1 ,D- BIL 16 9.5 μmol· L-1 … 相似文献
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Pretreatment of recipients with the monoclonal antibody (MoAb) S5 facilitates engraftment of bone marrow from mismatched, unrelated donors in the canine transplantation model. In the direct comparisons reported here, the S5 glycoprotein (gp) was found to have structural homology to CD44 that in humans has been implicated in adhesive interactions of one type of effector cell, the lymphocyte. The S5 antigen and gp90Hermes-1 exhibited codistribution on canine peripheral blood cells. Both S5 and Hermes-1 (anti-CD44) MoAbs recognized 90-Kd species in radioimmune precipitations of 125I surface-labeled canine peripheral blood lymphocytes and bone marrow cells. Competitive antibody binding experiments showed that the epitope detected by S5 was distinct from that bound by Hermes-1 but overlapped with those defined by two other known anti-CD44 reagents, IM7 and Hutch-1. Sequential immunoprecipitation with S5 and Hermes-1 indicated that the two antibodies recognize the same or overlapping subsets of membrane gps. Tryptic digestion of S5 and anti-CD44 immunoprecipitates generated two major iodinated peptides of 27 and 35 Kd in both cases, a further indication of structural homology. Similarly, after N-glycanase digestion, S5 and CD44 immunoprecipitates were resolved to a single 68- Kd species. These findings suggest that CD44-mediated adhesive events may affect the fate of transplanted hematopoietic cells. The previous implications of this gp in T-lymphocyte activation and lymphocyte adhesion to endothelium thus provide useful paradigms to analyze its function in the bone marrow transplant setting. 相似文献
64.
G. Purcell-Jones BSc MRCP FFARCS F. Dormon MB BS FFARCS Registrars E. Sumner BM BCh FFARCS Consultant 《Anaesthesia》1987,42(12):1316-1320
This is a retrospective study on the use of postoperative opioids in neonates admitted to the surgical intensive care unit at Great Ormond Street over a 5-year period (1980-84). A total of 131 (14%) babies received opioids out of 933 neonates admitted to the unit. The use of opioids increased from 9.7% to 27.2% of admitted cases during the survey period. Postoperative ventilation of the lungs was necessary in 240 (25.7%) cases and 88 (36.6%) of these were given opioids. Four babies initially failed to wean from controlled ventilation as a result of opioid induced respiratory depression. A total of 51 (7.35%) spontaneously breathing neonates received opioids and seven (13.7%) of these developed apnoea or respiratory failure thought to be induced by opioids. The administration of opioids by nurses occurred most frequently in the late evening and early hours of the morning, when medical cover is at its lowest level. 相似文献
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Alfred L. Fisher MD PhD Elizabeth A. O'Keefe BM BCh Joseph T. Hanlon PharmD MS Stephanie A. Studenski MD John G. Hennon EdD Neil M. Resnick MD 《Journal of the American Geriatrics Society》2009,57(3):524-529
During the next several decades, the aging of the "baby boom" generation in the United States will result in a dramatic increase in the number of patients aged 65 and older seeking medical care, but current projections suggest that the shortage of geriatrics-trained specialists will only worsen during this time period. As a result, the care of elderly patients will largely fall to other types of physicians. Consequently, it is imperative that medical school training include exposure to the basic skills needed to care safely for older adults. This goal is challenging, because the number of geriatric medicine faculty in most academic medical centers is small, and multiple other medical specialties are also vying for time in a busy medical school curriculum. Whether a 3-day course conducted during the third year of medical school could teach basic principles of geriatric medicine in a time- and manpower-effective manner was explored. It was found that even this brief exposure to geriatrics could have meaningful effects on student knowledge of and comfort with geriatrics. 相似文献
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