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101.
Daniela Anne Braun Jennifer Ashley Lawson Heon Yung Gee Jan Halbritter Shirlee Shril Weizhen Tan Deborah Stein Ari J. Wassner Michael A. Ferguson Zoran Gucev Brittany Fisher Leslie Spaneas Jennifer Varner John A. Sayer Danko Milosevic Michelle Baum Velibor Tasic Friedhelm Hildebrandt 《Clinical journal of the American Society of Nephrology》2016,11(4):664-672
Background and objectives
Nephrolithiasis is a prevalent condition that affects 10%–15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied.Design, setting, participants, & measurements
To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation.Results
We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent.Conclusions
We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis. 相似文献102.
Sevo G. Davidovic M. Erceg P. Despotovic N. Milosevic D. P. Tasic M. 《Journal of cross-cultural gerontology》2015,30(2):217-231
Journal of Cross-Cultural Gerontology - Serbia is a demographically old nation, with 17.4 % of its residents being aged 65 years and older in 2011. The previous two decades of... 相似文献
103.
Jamey J Lister Aleks Milosevic David M Ledgerwood 《Revue canadienne de psychiatrie》2015,60(8):369-376
Objective:
Problem and pathological gamblers are significantly more likely to experience mood disorders, compared with the general population. Our study examined the relation of psychological characteristics (personality, trait impulsiveness, and gambling motives) to current co-occurring mood disorder (major depression and dysthymia) status among problem and pathological gamblers.Method:
Problem and pathological gamblers (N = 150) underwent a clinical interview to assess current co-occurring mood disorders; participants completed measures of problem gambling severity, personality, impulsiveness, and gambling motives.Results:
Problem and pathological gamblers with a current co-occurring mood disorder were more likely to be female, older, and to report higher lifetime and past-year gambling severity. A co-occurring mood disorder was associated with higher personality scores for alienation and stress reaction, lower scores for well-being, social closeness, and control, as well as higher impulsiveness scores for urgency and lack of premeditation, and lower sensation seeking scores. Participants with a co-occurring mood disorder also reported higher coping motives for gambling. Multivariate logistic regression analyses demonstrated that personality factors (lower social closeness and higher alienation) contributed to the greatest likelihood of being diagnosed with a co-occurring mood disorder.Conclusions:
Mood disorders frequently co-occur with problem and pathological gambling, and they are associated with greater gambling severity. These findings highlight that interpersonal facets of personality contribute substantially to co-occurring mood disorder status. Implications for treatment will be discussed. 相似文献104.
Comparison between published clinical success of direct resin composite restorations in vital posterior teeth in 1995–2005 and 2006–2016 periods 下载免费PDF全文
Composites are increasing in popularity as restorative materials. This growing role indicates the necessity of studies on their clinical outcome. In this study, clinical studies published on the performance of posterior composite restorations were included except those of less than a 24‐month assessment period. Results of non‐vital, anterior or primary teeth and cervical single‐surface restorations were also excluded. Records about composite type, number of final recall restorations, failure/survival rate, assessment period and failure reasons were analysed for each decade. Overall survival/failure rates for studies in 1995–2005 were 89.41%/10.59% and for 2006–2016 were 86.87%/13.13%, respectively. In 1995–2005, the reasons for failure were secondary caries (29.47%) and composite fracture (28.84%) with low tooth fracture (3.45%) compared with reasons of failure in 2006–2016, which were secondary caries (25.68%), composite fracture (39.07%), and tooth fracture (23.76%). An increase in incidence of composite fracture, tooth fracture and need for endodontic treatment as failure reasons was noted in the latter decade in addition to a decrease in secondary caries, postoperative sensitivity, unsatisfactory marginal adaptation and wear. The overall rates of failure showed little difference, but the causes showed a notable change. This is believed to be a reflection of increased use of composites for larger restorations and possibly changes of material characteristics. 相似文献
105.
Neonatal neutrophils (PMN) show a well-documented defect in chemotaxis that is associated with several abnormalities of PMN structure and function, including deficient surface expression of CR3 (CD11b), a critical adhesion molecule, on chemoattractant-activated PMN. After activation of PMN with additional stimuli including calcium ionophores, we also found deficient surface CR3 (but normal CR1) expression on neonatal PMN suggesting that abnormal signaling mechanisms are not likely to explain the deficient CR3 expression on activated neonatal PMN. Therefore, we hypothesized that deficient surface expression of CR3 on stimulated neonatal neutrophils is caused by a deficiency in total cell content of CR3. We tested this hypothesis using three different methods to compare the total quantity of CR3 in neonatal versus adult PMN. Western blotting of serial twofold dilutions of PMN lysates from five adult and neonatal pairs, using a monoclonal antibody (MoAb) against CR3 (21PM19C), consistently showed diminished CR3 content in neonatal PMN. A sandwich enzyme-linked immunosorbent assay, in which the CR3 heterodimers in PMN lysates were captured by MoAb to the beta-chain, CD18 (R15.7), then detected with a biotinylated MoAb to the alpha-chain, CD11b (anti-Mac-1), showed that neonatal PMN lysates contain about 66% of adult PMN levels of CR3 (P < 0.03; n = 6). PMN fixed with paraformaldehyde and permeabilized with saponin were studied by immunofluorescence flow cytometry to determine total (surface plus intracellular) CR3 content using phycoerythrin-conjugated MoAb to CR3 (anti-Leu15). Mean total cell CR3 content (in relative fluorescence units) was 58 +/- 14 for adult PMN and 27 +/- 6 for neonatal PMN (n = 5; P = 0.013). In each method, total cell content of CR1 was equivalent for neonatal versus adult PMN. We conclude that neonatal PMN are markedly deficient in total cell CR3 content compared with adult PMN. This result provides a primary explanation for deficient CR3 surface expression on activated neonatal PMN that, in turn, may be important in the chemotactic defect of these cells. 相似文献
106.
Prognostic value of pretreatment circulating neutrophils,monocytes, and lymphocytes in oropharyngeal cancer stratified by human papillomavirus status 下载免费PDF全文
Shao Hui Huang MSc MD MRT John N. Waldron MD Michael Milosevic MD Xiaowei Shen MMath Jolie Ringash MD Jie Su MSc Li Tong BSc Bayardo Perez‐Ordonez MD Ilan Weinreb MD Andrew J. Bayley MD John Kim MD Andrew Hope MD B.C. John Cho MD Meredith Giuliani MD Albiruni Razak MD David Goldstein MD Willa Shi PhD Fei‐Fei Liu MD Wei Xu PhD Brian O'Sullivan MD 《Cancer》2015,121(4):545-555
107.
108.
Partho P Sengupta Bijoy K Khandheria Josef Korinek Arshad Jahangir Shiro Yoshifuku Ilija Milosevic Marek Belohlavek 《Journal of the American College of Cardiology》2007,49(8):899-908
OBJECTIVES: We sought to clarify the role of isovolumic intervals during a cardiac cycle by in vivo visualization of left ventricular (LV) intracavitary flow dynamics. BACKGROUND: Asynchronous LV deformation during isovolumic contraction (IVC) and isovolumic relaxation (IVR) might represent a transient feature of myocardial wall mechanics that reverses the direction of blood flow. METHODS: In 10 beating porcine hearts, the changes in LV intracavitary flow were recorded at baseline and after LV epicardial and right atrial pacing with high-resolution Doppler and contrast echocardiography. Two-dimensional vector flow fields were generated offline from B-mode contrast images with particle imaging velocimetry. RESULTS: During IVC, flow from the LV apex accelerated toward the base, whereas blood from the base was redirected toward the outflow through formation of an anterior vortex. Conversely, during IVR, flow was initially directed toward the apex and then briefly reversed toward the base. Epicardial pacing from the LV base altered the stages of flow redirection during the pre-ejection period and delayed mitral valve closure (28 +/- 14 ms vs. 61 +/- 13 ms, p < 0.001) and aortic valve opening (77 +/- 18 ms vs. 111 +/- 18 ms, p = 0.004). CONCLUSIONS: Isovolumic intervals are not periods of hemodynamic stasis but, rather, phases with dynamic changes in intracavitary flow. Experimentally induced aberrant epicardial electrical activation alters stages of flow redirection and prolongs the pre-ejection period. Normal electromechanical activation through the His-Purkinje system in mammalian hearts maintains an inherent synchrony with the sequence of intracavitary flow redirection. 相似文献
109.
Groopman JE; Hartzband PI; Shulman L; Salahuddin SZ; Sarngadharan MG; McLane MF; Essex M; Gallo R 《Blood》1985,66(3):742-744
The human T-lymphotropic virus type III (HTLV-III) is the primary cause of the acquired immunodeficiency syndrome (AIDS) and related disorders (ARC). Prior studies have reported that nearly all symptomatic patients with AIDS or ARC manifest antibody to HTLV-III. This observation has engendered efforts to screen for HTLV-III, especially prior to blood donation, with assays for antibody to HTLV-III. We report the first two cases, one with AIDS and one with ARC, that are HTLV-III virus positive but antibody negative. Accurate diagnosis of HTLV-III infection in some cases may require direct virus culture or tests for antigen. In addition, lack of HTLV-III antibody may indicate an atypical clinical course of AIDS. 相似文献
110.
CD34 expression is regulated reciprocally with adhesion molecules in vascular endothelial cells in vitro 总被引:11,自引:1,他引:11
Delia D; Lampugnani MG; Resnati M; Dejana E; Aiello A; Fontanella E; Soligo D; Pierotti MA; Greaves MF 《Blood》1993,81(4):1001-1008
Freshly cultured vascular endothelial cells express the CD34 antigen in a diffuse cell surface pattern with some concentration on microvilli. Expression is downregulated with proliferation in continuous culture and undetectable after nine population doublings but can be maintained by restraining cell proliferation and promoting cell contact. Expression of CD34 at the antigen and mRNA levels on early passage cells is rapidly downregulated by interleukin-1 beta (IL-1 beta), interferon-gamma (INF-gamma), and tumor necrosis factor-alpha (TNF- alpha) under conditions in which these ligands upregulate the adhesion molecules: endothelial leukocyte adhesion molecule 1 (ELAM-1) and intracellular adhesion molecule 1 (ICAM-1). This reciprocal pattern of expression and the topographic distribution of CD34 molecules on the lumenal interdigitated microprocesses of adjacent endothelial cells in vivo suggest that CD34 might have a negative modulating role on adhesion functions of endothelia. 相似文献