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排序方式: 共有4290条查询结果,搜索用时 15 毫秒
111.
Kroll CA Ferber MJ Dawson BD Jacobson RM Mensink KA Lorey F Sherwin J Cunningham G Rinaldo P Matern D Hahn SH 《Molecular genetics and metabolism》2006,89(1-2):134-138
Wilson disease is an autosomal recessive disorder of copper transport, caused by the reduced or absent function of the Wilson disease gene ATP7B on chromosome 13. The disease is characterized by reduced incorporation of copper into the ceruloplasmin protein and reduced excretion of copper into the bile. Wilson disease is effectively treated if detected early. Our study goals were to determine the feasibility of a population screening for Wilson disease using dried blood spots and to characterize the base-line ceruloplasmin concentration in newborn blood spots of patients with Wilson disease. Ceruloplasmin was analyzed in dried blood spots obtained from 353 Mayo Clinic pediatric volunteers aged from 3 months to 18 years and from 1045 anonymous newborn screening specimens using a sandwich enzyme-linked immunosorbent assay. The original newborn screening blood spots were retrieved from two patients with Wilson disease along with age-matched controls for ceruloplasmin determination. The mean (+/-SD) concentration of ceruloplasmin in the pediatric blood spots was 40.0+/-14.4 mg/dL (range 13.1 to >60 mg/dL) and newborn blood spots was 47.2+/-15.5mg/dL (range 6.5 to >60 mg/dL). Ceruloplasmin in the newborn blood spots from two Wilson disease patients were 2.6 and 2.8 mg/dL, respectively. The newborns affected with Wilson disease had significantly lower ceruloplasmin levels in blood spots than unaffected newborns. These findings support that presymptomatic screening for Wilson disease using dried blood spots could be possible, even in the newborn period. 相似文献
112.
Sun Y Witte DP Ran H Zamzow M Barnes S Cheng H Han X Williams MT Skelton MR Vorhees CV Grabowski GA 《Human molecular genetics》2008,17(15):2345-2356
Saposin B derives from the multi-functional precursor, prosaposin, and functions as an activity enhancer for several glycosphingolipid (GSL) hydrolases. Mutations in saposin B present in humans with phenotypes resembling metachromatic leukodystrophy. To gain insight into saposin B's physiological functions, a specific deficiency was created in mice by a knock-in mutation of an essential cysteine in exon 7 of the prosaposin locus. No saposin B protein was detected in the homozygotes (B-/-) mice, whereas prosaposin, and saposins A, C and D were at normal levels. B-/- mice exhibited slowly progressive neuromotor deterioration and minor head tremor by 15 months. Excess hydroxy and non-hydroxy fatty acid sulfatide levels were present in brain and kidney. Alcian blue positive (sulfatide) storage cells were found in the brain, spinal cord and kidney. Ultrastructural analyses showed lamellar inclusion material in the kidney, sciatic nerve, brain and spinal cord tissues. Lactosylceramide (LacCer) and globotriaosylceramide (TriCer) were increased in various tissues of B-/- mice supporting the in vivo role of saposin B in the degradation of these lipids. CD68 positive microglial cells and activated GFAP positive astrocytes showed a proinflammatory response in the brains of B-/- mice. These findings delineate the roles of saposin B for the in vivo degradation of several GSLs and its primary function in maintenance of CNS function. B-/- provide a useful model for understanding the contributions of this saposin to GSL metabolism and homeostasis. 相似文献
113.
Diana R. Samek Sylia Wilson Matt McGue William G. Iacono 《Journal of clinical child and adolescent psychology》2018,47(6):S5-S20
Few studies have investigated potential gender differences in the genetic and environmental influences on the prospective associations between parent–child conflict and later depression, a notable gap given substantial gender differences in rates of depression and suggestive evidence of differences in the etiology of depression among females and males. To fill this gap, we evaluated whether the prospective relationship between parent–child conflict and major depressive disorder symptoms varied as a function of parent–child gender composition. A combined twin and adoption sample was used (53% female; 85% European ancestry), containing 1,627 adolescent sibling pairs (789 monozygotic twin pairs, 594 dizygotic/full-biological pairs, 244 genetically unrelated pairs) with assessments at two time points in adolescence (approximate ages 15 and 18). Prospective associations between parent–child conflict and subsequent adolescent depression were explained predominately through common genetic influences for mother–daughter and mother–son pairs but less so for father–daughter and father–son pairs. Results support the notion that processes of gene–environment correlation involved in the prospective associations between parent–child conflict, and later adolescent depression appear to be less relevant to father–child relationships in comparison to mother–child relationships. Notably, results did not show that parent–child conflict was more relevant to the etiology of major depressive disorder (MDD) for girls than boys; gender differences in depression do not appear to be due to differences in the associations between parent–child conflict and child depression. 相似文献
114.
Murine macrophage chemokine receptor CCR2 plays a crucial role in macrophage recruitment and regulated inflammation in wound healing 下载免费PDF全文
Anna E. Boniakowski Andrew S. Kimball Amrita Joshi Matt Schaller Frank M. Davis Aaron denDekker Andrea T Obi Bethany B. Moore Steve L. Kunkel Katherine A. Gallagher 《European journal of immunology》2018,48(9):1445-1455
Macrophages play a critical role in the establishment of a regulated inflammatory response following tissue injury. Following injury, CCR2+ monocytes are recruited from peripheral blood to wound tissue, and direct the initiation and resolution of inflammation that is essential for tissue repair. In pathologic states where chronic inflammation prevents healing, macrophages fail to transition to a reparative phenotype. Using a murine model of cutaneous wound healing, we found that CCR2‐deficient mice (CCR2?/?) demonstrate significantly impaired wound healing at all time points postinjury. Flow cytometry analysis of wounds from CCR2?/? and WT mice revealed a significant decrease in inflammatory, Ly6CHi recruited monocyte/macrophages in CCR2?/? wounds. We further show that wound macrophage inflammatory cytokine production is decreased in CCR2?/? wounds. Adoptive transfer of mT/mG monocyte/macrophages into CCR2+/+ and CCR2?/? mice demonstrated that labeled cells on days 2 and 4 traveled to wounds in both CCR2+/+ and CCR2?/? mice. Further, adoptive transfer of monocyte/macrophages from WT mice restored normal healing, likely through a restored inflammatory response in the CCR2‐deficient mice. Taken together, these data suggest that CCR2 plays a critical role in the recruitment and inflammatory response following injury, and that wound repair may be therapeutically manipulated through modulation of CCR2. 相似文献
115.
Equine infectious anemia virus (EIAV) is a lentivirus that causes persistent infections in horses. We hypothesized that high-avidity CTL specific for nonvariable epitopes might be associated with low viral load and minimal disease in EIAV-infected horses. To test this hypothesis, memory CTL (CTLm) responses were analyzed in two infected horses with high plasma viral loads and recurrent disease (progressors), and in two infected horses with low-to-undetectable viral loads and mild disease (nonprogressors). High-avidity CTLm in one progressor recognized an envelope gp90 epitope, and the data documented for the first time in EIAV that viral variation led to CTL escape. Each of the nonprogressors had high-to-moderate avidity CTLm directed against epitopes within Rev, including the nuclear export and nuclear localization domains. These results suggested that the epitope specificity of high- and moderate-avidity CTLm was an important determinant for disease outcome in the EIAV-infected horses examined. 相似文献
116.
Matt J. Keeling Leon Danon Matthew C. Vernon Thomas A. House 《Proceedings of the National Academy of Sciences of the United States of America》2010,107(19):8866-8870
The theory of networks has had a huge impact in both the physical and life sciences, shaping our understanding of the interaction between multiple elements in complex systems. In particular, networks have been extensively used in predicting the spread of infectious diseases where individuals, or populations of individuals, interact with a limited set of others—defining the network through which the disease can spread. Here for such disease models we consider three assumptions for capturing the network of movements between populations, and focus on two applied problems supported by detailed data from Great Britain: the commuter movement of workers between local areas (wards) and the permanent movement of cattle between farms. For such metapopulation networks, we show that the identity of individuals responsible for making network connections can have a significant impact on the infection dynamics, with clear implications for detailed public health and veterinary applications. 相似文献
117.
Mei-Jui Weng Matt Chiung-Yu Chen Wen-Che Chi Yi-Chun Liu Ko-Fen Chien Huei-Lung Liang Huay-Ben Pan 《Cardiovascular and interventional radiology》2010,33(1):67-73
The purpose of this paper is to describe a unique “eighth note” deformity of the autogenous radiocephalic fistula for hemodialysis and to retrospectively evaluate the efficacy and safety of its endovascular treatment. Over 3 years, a total of 808 patients and 558 autogenous radiocephalic fistulas were treated for vascular access dysfunction or thrombosis. These included 14 fistulas in 14 patients (9 men, 5 women; mean age, 58.2 ± 2.8 years; range 27–79 years) whose fistulograms before treatment resembled a musical note, the eighth note. Endovascular treatment sought to remodel the deformed vascular access to a classic radiocephalic fistula and increase the number of cannulation sites available for hemodialysis. The technical and clinical success rates were each 92.8% (13/14). Fistula remodeling was successful in 13 patients. The postintervention primary patency was 100% at 90 days, 91.7 ± 0.8% at 120 days, 78.6 ± 13.9% at 180 days, 62.9 ± 17.9% at 360 days, 31.4 ± 24.0% at 540 days, and 0% at 720 days. The postintervention secondary patency was 100% at 90 days, 100% at 120 days, 100% at 180 days, 85.7 ± 13.2% at 360 days, and 85.7 ± 13.2% at 720 days. No major complications were noted. Minor complications were found in 71.4% of patients, all of which resolved spontaneously. In conclusion, endovascular treatment of fistulas with the eighth note deformity can effectively increase the number of available cannulation sites, facilitate fistula maturation, and facilitate thromboaspiration after fistula thrombosis. 相似文献
118.
Bruce H. Matt 《Otolaryngology--head and neck surgery》2010,143(3):454-455
Operating room fires are rare, but when they occur, they have potentially devastating and deadly consequences. Coblation (ArthroCare ENT, Austin, TX) technology has become popular for many otolaryngology procedures and seems to have the advantage of reducing fire risk. Our objective was to test the Coblator II on various flammable materials commonly found and used in the operating room. We placed the active Coblator II at the highest settings, in direct contact with flammable operating room equipment and materials, and made the environment even more volatile by introducing oxygen into the testing environment. We found that the Coblator II did not produce fire when in contact with any of the materials. This finding is very important in otolaryngology because airway procedures often take place in environments with high concentrations of oxygen. Our testing shows that the Coblator II is safe to use in these types of environments. 相似文献
119.
120.
Despite ample precedent in theology and social theory, few studies have systematically examined the role of religion in mitigating the harmful effects of socioeconomic deprivation on mental health. The present study outlines several arguments linking objective and subjective measures of financial hardship, as well as multiple aspects of religious life, with psychological distress. Relevant hypotheses are then tested using data on adults aged 18–59 from the 1998 US NORC General Social Survey. Findings confirm that both types of financial hardship are positively associated with distress, and that several different aspects of religious life buffer against these deleterious influences. Specifically, religious attendance and the belief in an afterlife moderate the deleterious effects of financial hardship on both objective and subjective financial hardship, while meditation serves this function only for objective hardship. No interactive relationships were found between frequency of prayer and financial hardship. A number of implications, study limitations, and directions for future research are identified. 相似文献