Köbberling type of familial partial lipodystrophy: an underrecognized syndrome

OBJECTIVE: The phenotypic expression of partial lipodystrophy is present in two familial syndromes: familial partial lipodystrophy type 1 (FPLD1), with fat loss from the extremities, and central obesity and FPLD type 2, with fat loss from the extremities, abdomen, and thorax. The latter disorder is associated with mutations in the LMNA gene. FPLD1 is thought to be rare. Here, we report 13 subjects with FPLD1, suggesting that this syndrome is more common than previously thought. RESEARCH DESIGN AND METHODS: Fasting glucose, plasma lipids, leptin, HbA(1c), and anthropomorphic measurements were evaluated in 13 subjects with clinical features of FPLD1 and are compared with two age-matched control groups, with and without diabetes. RESULTS: Only women with clinical features of FPLD1 have been identified. Although they lack extremity and gluteal subcutaneous fat, they do have truncal obesity. Skinfold thickness on the arm and leg was significantly less than that in control subjects. The ratio of skinfold thickness from abdomen to thigh was significantly higher in subjects, suggesting an easy method for identifying affected patients. FPLD1 subjects also had components of the metabolic syndrome, including hypertension, insulin resistance, and severe hypertriglyceridemia resulting in pancreatitis. Premature coronary artery disease was present in 31% of subjects. None of the subjects had coding mutations in the LMNA gene or in the gene coding for peroxisome proliferator-activated receptor (PPAR)-gamma. CONCLUSIONS: FPLD1 is more common than previously described, but the diagnosis is often missed. Early recognition and intensive treatment of hyperlipidemia and diabetes in FPLD1 is important for prevention of pancreatitis and early cardiovascular disease.     

Understanding disparities in donor behavior: race and gender differences in willingness to donate blood and cadaveric organs.

BACKGROUND: Recent efforts to recruit blood and organ donors have only marginally improved demographic disparities in willingness to donate. Few studies have examined which factors are most important in explaining race and gender disparities in willingness to donate. OBJECTIVES: To assess race and gender differences in willingness to donate blood and cadaveric organs, and to determine the extent to which several factors (including sociodemographic characteristics and attitudes about religion and mistrust of hospitals) might explain differences in willingness to donate. RESEARCH DESIGN: Cross-sectional telephone survey of Maryland households contacted via random-digit dialing. MEASURES: Past blood donation, organ-donor status on driver's license, and measures of medical mistrust and religious and spiritual salience. SUBJECTS: Persons age 18 to 75 living in the Baltimore, Maryland metropolitan area. RESULTS: Of 385 respondents (84% of randomized households), 114 were black females, 46 were black males, 110 were white females, and 69 were white males. Before adjustment, black females were least willing to donate blood (41%), and black males were least willing to become cadaveric donors (19%) among all race-gender groups. Adjustment for respondent concerns about mistrust of hospitals and discrimination in hospitals explained most differences in willingness to donate blood, whereas adjustment for respondents' beliefs regarding the importance of spirituality and religion explained most differences in willingness to donate cadaveric organs. CONCLUSIONS: Both race and gender are important identifiers of those less willing to donate. To maximize efficiency, donor recruitment efforts should focus on race-gender groups with lowest levels of willingness. Potential donor concerns regarding mistrust in hospitals and religion/spirituality may serve as important issues to address when developing programs to improve donation rates.     

Activation of antigen-presenting cells by DNA delivery vectors

Gene-based modulation of immune functions is a promising means of eliciting protective immunity and induction of tolerance. Novel viral and non-viral DNA delivery systems are being investigated to achieve efficient gene transfer into mammalian cells. Antigen-presenting cells (APCs), in particular dendritic cells, are crucial targets in this context due to their capacity to initiate and direct effector functions. The increasing relevance of APCs as targets of DNA vectors calls for an assessment of vector-driven activation of these cells. For viral vectors, a putative pathway of APC activation would be Toll-like receptor signalling for certain RNA genome viruses. On the other hand, non-viral vectors appear to mature APCs by interaction of polymeric particulates or bioactive lipids with cellular mechanisms. The rational design of DNA-based therapies is possible only when the intrinsic effects of the vector and immune modulation originating from the DNA are delineated. This paper will summarise recent reports of adjuvant properties of viral and non-viral delivery systems.     

Application of a model of social information processing to nursing theory: how nurses respond to patients

Title. Application of a model of social information processing to nursing theory: how nurses respond to patients. Aim. This paper is a report of a study to assess the applicability of a theoretical model of social information processing in expanding a nursing theory addressing how nurses respond to patients. Background. Nursing communication affects patient outcomes such as anxiety, adherence to treatments and satisfaction with care. Orlando’s theory of nursing process describes nurses’ reactions to patients’ behaviour as generating a perception, thought and feeling in the nurse and then action by the nurse. A model of social information processing describes the sequential steps in the cognitive processes used to respond to social cues and may be useful in describing the nursing process. Methods. Cognitive interviews were conducted in 2006 with a convenience sample of 5 nurses in the United States of America. The data were interpreted using the Crick and Dodge model of social information processing. Findings. Themes arising from cognitive interviews validated concepts of the nursing theory and the constructs of the model of social information processing. The interviews revealed that the support of peers was an additional construct involved in the development of communication skills, creation of a database and enhancement of self‐efficacy. Conclusion. Models of social information processing enhance understanding of the process of how nurses respond to patients and further develop nursing theories further. In combination, the theories are useful in developing research into nurse–patient communication. Future research based on the expansion of nursing theory may identify effective and culturally appropriate nurse response patterns to specific patient interactions with implications for nursing care and patient outcomes.     

Neutrophil priming, caused by cell membranes and microvesicles in packed red blood cell units, is abrogated by leukocyte depletion at collection.

BACKGROUND AND OBJECTS: Lipids with platelet activating factor (PAF)-like activity in supernatant of packed red blood cells (PRBC) cause priming of the neutrophil respiratory burst. This effect increases with length of storage. Washing of PRBC has been considered as a means to eliminate this effect; however, the role of the cellular component was not evaluated independently of the supernatant. The source of the inflammatory lipids of the supernatant is likely to be cell membranes altered during ageing in storage and therefore, washing will not eliminate neutrophil priming caused by transfusion of aged PRBC units. The ability of washed PRBC to prime mononuclear cells for another known effect of PAF, the production of IL-8, and the probability that this lipid activity is present on microparticles in PRBC supernatant were also investigated. MATERIALS AND METHODS: At collection 10 units of whole blood were split into two equal aliquots one filtered and one unfiltered. PRBC were prepared and stored at 4 degrees C in CPD-AS5. Each week, fresh neutrophils were incubated with samples of washed PRBC and fixed. Change in CD11b, a marker known to increase on the surface of primed neutrophils, was determined by flow cytometry. To determine whether neutrophil priming ability of PRBC supernatant is contained on microvesicles, centrifuged and uncentrifuged supernatant samples were incubated with fresh neutrophils and change in CD11b expression was determined. Plasma IL-8 levels were also measured after exposure of monocytes from fresh whole blood to filtered and unfiltered washed PRBC with and without the addition of fMLP. RESULTS: Washed PRBC caused a 50-116% increase in CD11b neutrophil surface expression over baseline expression. Filtration of whole blood at collection reduced this CD11b up-regulation by 25-34%. Reduction of priming ability by filtration began on the day of collection and persisted for the storage life of the units. Centrifugation resulted in a reduction of CD11b up-regulation of 11-28% compared with unspun supernatant. Incubation of unfiltered PRBC resulted in priming of mononuclear leukocytes for IL-8 production with a 73-109% increase over baseline, but no increase over baseline was seen for incubation with filtered blood. CONCLUSION: Washing does not eliminate the ability of PRBC units to prime neutrophils and mononuclear cells, because the cellular component of PRBC, in addition to the supernatant, induces priming. Leukodepletion filters significantly reduce these effects compared with unfiltered PRBC. The in vitro beneficial effect of filtration lasts for the shelf life of 42 day units. The ability of PRBC supernatant to prime neutrophils is present on microvesicles.     

Comparison of 2 versus 3 dimensional fracture mapping strategies for 3 dimensional computerized tomography reconstructions of scapula neck and body fractures

Fracture mapping has been used in the understanding of injury patterns in different bones. To our knowledge, there are no applications of this technique using three‐dimensional (3D) morphologic fracture characteristics. Previously, scapula fractures were mapped by transferring information from 3D computed tomography to a two‐dimensional (2D) template. Cole et al. determined that 3D Computerized Tomography (CT) scans were more reliable compared to plain radiographs in terms of scapular angulation, translation, and glenopolar angle measurements. Thus, we hypothesized that if there is a difference between fracture lines drawn in 3D and in 2D, then the 3D mapping would yield more accurate fracture patterns. We completed a retrospective, comparative study (evidence level III) utilizing CT imaging from a single center scapular registry. We studied ten patients with scapula fractures in whom bilateral CT scans were obtained. Fractures were mapped both two and three‐dimensionally, and we measured deviations between the fracture lines that were drawn with each approach. The measured deviations ranged from 10.4 mm to 28.0 mm when comparing 2D versus 3D techniques, with the mean deviation being 4.0 mm and 10.4 mm, respectively. Half of the 2D renderings possessed hidden fracture lines that were later revealed on 3D imaging. Three‐dimensional renderings were more accurate when compared to 2D fracture mapping methods. This more accurate technique will allow for better understanding of 3D morphology and provide a basis for future fracture mapping in any bone. Accurate mapping is important because surgical approach, reduction, fixation, and implant design and selection are based on fracture patterns. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 36:265–271, 2018.