A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease,seizures and cotton wool plaques,but not spastic paraparesis

Over 100 mutations in the presenilin‐1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.     

Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity

Human Molecular Genetics (2006) 15, 921–931;     

Identifying nursing research priorities: a first step in program development

This study determined nursing research priorities and focused on the development of a nursing research program within a single institution. Of the 715 nurses within the Department of Nursing, 286 (40%) responded to the first round of a two-round Delphi technique, and 137 (48%) responded to the second. The following clinical priorities were determined: prevention and treatment of pressure sores, pain management, treatment of nosocomial infections, and patient education. Nonclinical priorities included staffing and its effects on turnover and patient care, job satisfaction, and factors influencing the quality of nursing care. Serendipitous findings underscored the relevance of the Department of Nursing's conceptual framework to nursing practice and research, revealed the need for dissemination of current research results, and suggested that nurses want to participate in research without assuming responsibility beyond their expertise.     

Inpatient mortality of hip fracture patients in the Veterans Health Administration.

Hip fractures among elderly people frequently result in permanent disabilities, nursing home placement, and death. The bulk of hip fracture research focuses on elderly women. Within the Veterans Health Administration (VHA), the majority of patients are men. There are no published national reports on hip fractures with large male samples, or on related inpatient mortality among veterans. This retrospective study of 13,546 veterans with hip fracture discharges from 1998-2002 found unadjusted mortality rates are higher in the VHA, compared with the general population. VHA patients tend to be older men in poor health who stay in the hospital longer Increased knowledge about the risks and outcomes associated with hip fractures in men could lead to improved primary and secondary injury-prevention programs. Rehabilitation nurses in acute care can be catalysts in proactively incorporating protective devices, screening for osteoporosis, and initiating lifestyle changes in their plans of care to optimize outcomes for hip fracture patients.     

Health managers' attitudes toward robotics and artificial computer intelligence: An empirical investigation

An empirical investigation of the perceived role of robotics and artificial computer intelligence in the future of health care reveals factors favoring a positive attitude by health administrators. The study employed a two-part survey administered in late 1989 and early 1990 to health care managers in hospitals and nursing homes. Part One of the survey asked about the participant, his or her work habits and work environment. Part Two obtained a psychological profile of rationality vs. intuition in problem solving. Through bivariate and multivariate post hoc statistical tests, we discovered the following variables which significantly determined attitudes toward robotics and artificial computer intelligence: sex, number of employees supervised; perceptions of waste and inefficiency in the workplace; perceptions of time-consuming personnel problem; perceived need to make more efficient use of time, money, and facilities; and perceived favorable climate for innovation. Among the factors which did not have an effect on attitudes toward advanced technology were three measures of rationality vs. intuition in problem solving.     

Cylindrical spirals of myofilamentous origin associated with exertional cramps and rhabdomyolysis

We describe the presence of cylindrical spirals on muscle biopsy from a 31-year-old man who developed rhabodomyolysis following a long run. He had a prior history of exertional cramps and myoglobinuria. His maternal grandfather had similar symptoms. Transmission electron micrographs demonstrated continuity between the lamellae of the cylindrical spirals and native myofilaments. Whether these unusual structures confer a derangement in myofilament function is uncertain.