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Sökning: WFRF:(Hashem M)

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1.
  • 2021
  • swepub:Mat__t
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2.
  • Tabiri, S, et al. (författare)
  • 2021
  • swepub:Mat__t
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3.
  • Bravo, L, et al. (författare)
  • 2021
  • swepub:Mat__t
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4.
  • Khatri, C, et al. (författare)
  • Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
  • 2021
  • Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
  • Tidskriftsartikel (refereegranskat)abstract
    • Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
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5.
  • Thoma, B, et al. (författare)
  • An international, interprofessional investigation of the self-reported podcast listening habits of emergency clinicians: A METRIQ Study
  • 2020
  • Ingår i: CJEM. - : Springer Science and Business Media LLC. - 1481-8043 .- 1481-8035. ; 22:1, s. 112-117
  • Tidskriftsartikel (refereegranskat)abstract
    • ObjectivesPodcasts are increasingly being used for medical education. A deeper understanding of usage patterns would inform both producers and researchers of medical podcasts. We aimed to determine how and why podcasts are used by emergency medicine and critical care clinicians.MethodsAn international interprofessional sample (medical students, residents, physicians, nurses, physician assistants, and paramedics) was recruited through direct contact and a multimodal social media (Twitter and Facebook) campaign. Each participant completed a survey outlining how and why they utilize medical podcasts. Recruitment materials included an infographic and study website.Results390 participants from 33 countries and 4 professions (medicine, nursing, paramedicine, physician assistant) completed the survey. Participants most frequently listened to medical podcasts to review new literature (75.8%), learn core material (75.1%), and refresh memory (71.8%). The majority (62.6%) were aware of the ability to listen at increased speeds, but most (76.9%) listened at 1.0 x (normal) speed. All but 25 (6.4%) participants concurrently performed other tasks while listening. Driving (72.3%), exercising (39.7%), and completing chores (39.2%) were the most common. A minority of participants used active learning techniques such as pausing, rewinding, and replaying segments of the podcast. Very few listened to podcasts multiple times.ConclusionsAn international cohort of emergency clinicians use medical podcasts predominantly for learning. Their listening habits (rarely employing active learning strategies and frequently performing concurrent tasks) may not support this goal. Further exploration of the impact of these activities on learning from podcasts is warranted.
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6.
  • Bass, Gary Alan, 1979-, et al. (författare)
  • Techniques for mesoappendix transection and appendix resection: insights from the ESTES SnapAppy study
  • 2023
  • Ingår i: European Journal of Trauma and Emergency Surgery. - : Springer Science and Business Media LLC. - 1863-9933 .- 1615-3146 .- 1863-9941. ; 49, s. 17-32
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Surgically managed appendicitis exhibits great heterogeneity in techniques for mesoappendix transection and appendix amputation from its base. It is unclear whether a particular surgical technique provides outcome benefit or reduces complications. Material and methods: We undertook a pre-specified subgroup analysis of all patients who underwent laparoscopic appendectomy at index admission during SnapAppy (ClinicalTrials.gov Registration: NCT04365491). We collected routine, anonymized observational data regarding surgical technique, patient demographics and indices of disease severity, without change to clinical care pathway or usual surgeon preference. Outcome measures of interest were the incidence of complications, unplanned reoperation, readmission, admission to the ICU, death, hospital length of stay, and procedure duration. We used Poisson regression models with robust standard errors to calculate incident rate ratios (IRRs) and 95% confidence intervals (CIs). Results: Three-thousand seven hundred sixty-eight consecutive adult patients, included from 71 centers in 14 countries, were followed up from date of admission for 90days. The mesoappendix was divided hemostatically using electrocautery in 1564(69.4%) and an energy device in 688(30.5%). The appendix was amputated by division of its base between looped ligatures in 1379(37.0%), with a stapler in 1421(38.1%) and between clips in 929(24.9%). The technique for securely dividing the appendix at its base in acutely inflamed (AAST Grade 1) appendicitis was equally divided between division between looped ligatures, clips and stapled transection. However, the technique used differed in complicated appendicitis (AAST Grade 2 +) compared with uncomplicated (Grade 1), with a shift toward transection of the appendix base by stapler (58% vs. 38%; p < 0.001). While no statistical difference in outcomes could be detected between different techniques for division of appendix base, decreased risk of any [adjusted IRR (95% CI): 0.58 (0.41–0.82), p = 0.002] and severe [adjusted IRR (95% CI): 0.33 (0.11–0.96), p = 0.045] complications could be detected when using energy devices. Conclusions: Safe mesoappendix transection and appendix resection are accomplished using heterogeneous techniques. Technique selection for both mesoappendix transection and appendix resection correlates with AAST grade. Higher grade led to more ultrasonic tissue transection and stapled appendix resection. Higher AAST appendicitis grade also correlated with infection-related complication occurrence. Despite the overall well-tolerated heterogeneity of approaches to acute appendicitis, increasing disease acuity or complexity appears to encourage homogeneity of intraoperative surgical technique toward advanced adjuncts.
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7.
  • Forssten, Maximilian Peter, 1996-, et al. (författare)
  • Surgical management of acute appendicitis during the European COVID-19 second wave: safe and effective
  • 2023
  • Ingår i: European Journal of Trauma and Emergency Surgery. - : Springer Science and Business Media LLC. - 1863-9933 .- 1615-3146 .- 1863-9941. ; 49, s. 57-67
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: The COVID-19 (SARS-CoV-2) pandemic drove acute care surgeons to pivot from long established practice patterns. Early safety concerns regarding increased postoperative complication risk in those with active COVID infection promoted antibiotic-driven non-operative therapy for select conditions ahead of an evidence-base. Our study assesses whether active or recent SARS-CoV-2 positivity increases hospital length of stay (LOS) or postoperative complications following appendectomy. Methods: Data were derived from the prospective multi-institutional observational SnapAppy cohort study. This preplanned data analysis assessed consecutive patients aged ≥ 15years who underwent appendectomy for appendicitis (November 2020–May 2021). Patients were categorized based on SARS-CoV-2 seropositivity: no infection, active infection, and prior infection. Appendectomy method, LOS, and complications were abstracted. The association between SARS-CoV-2 seropositivity and complications was determined using Poisson regression, while the association with LOS was calculated using a quantile regression model. Results: Appendectomy for acute appendicitis was performed in 4047 patients during the second and third European COVID waves. The majority were SARS-CoV-2 uninfected (3861, 95.4%), while 70 (1.7%) were acutely SARS-CoV-2 positive, and 116 (2.8%) reported prior SARS-CoV-2 infection. After confounder adjustment, there was no statistically significant association between SARS-CoV-2 seropositivity and LOS, any complication, or severe complications. Conclusion: During sequential SARS-CoV-2 infection waves, neither active nor prior SARS-CoV-2 infection was associated with prolonged hospital LOS or postoperative complication. Despite early concerns regarding postoperative safety and outcome during active SARS-CoV-2 infection, no such association was noted for those with appendicitis who underwent operative management.
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8.
  • Schweinsberg, Martin, et al. (författare)
  • Same data, different conclusions : Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis
  • 2021
  • Ingår i: Organizational Behavior and Human Decision Processes. - : Elsevier BV. - 0749-5978 .- 1095-9920. ; 165, s. 228-249
  • Tidskriftsartikel (refereegranskat)abstract
    • In this crowdsourced initiative, independent analysts used the same dataset to test two hypotheses regarding the effects of scientists' gender and professional status on verbosity during group meetings. Not only the analytic approach but also the operationalizations of key variables were left unconstrained and up to individual analysts. For instance, analysts could choose to operationalize status as job title, institutional ranking, citation counts, or some combination. To maximize transparency regarding the process by which analytic choices are made, the analysts used a platform we developed called DataExplained to justify both preferred and rejected analytic paths in real time. Analyses lacking sufficient detail, reproducible code, or with statistical errors were excluded, resulting in 29 analyses in the final sample. Researchers reported radically different analyses and dispersed empirical outcomes, in a number of cases obtaining significant effects in opposite directions for the same research question. A Boba multiverse analysis demonstrates that decisions about how to operationalize variables explain variability in outcomes above and beyond statistical choices (e.g., covariates). Subjective researcher decisions play a critical role in driving the reported empirical results, underscoring the need for open data, systematic robustness checks, and transparency regarding both analytic paths taken and not taken. Implications for orga-nizations and leaders, whose decision making relies in part on scientific findings, consulting reports, and internal analyses by data scientists, are discussed.
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9.
  • Abulmeaty, M. M. A., et al. (författare)
  • Impact of Vitamin D Supplementation on Bone Mineral Density and All-Cause Mortality in Heart Transplant Patients
  • 2021
  • Ingår i: Biomedicines. - : MDPI AG. - 2227-9059. ; 9:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Vitamin D (VD) deficiency is frequently reported in heart transplant (HT) recipients and routinely supplemented. However, the efficacy of VD supplementation on bone mineral density (BMD) and its association with all-cause mortality is underinvestigated. The VD levels and BMD were studied for two years, and the association of VD and BMD with all-cause mortality risk was investigated. Ninety-six HT patients (38.18 & PLUSMN; 12.10 years old; 74% men) were followed up during VD, Ca, and Mg supplementation. Anthropometric measurements, BMD by Dual-energy X-ray absorptiometry (DEXA) scan, VD concentrations, and related biochemical parameters were analyzed before, 1 year, and 2 years after HT. Despite significant improvement of VD3 and 25-hydroxy VD (25OHVD) levels especially in the men, BMD parameters were insignificantly changed. After 2 years, the all-cause mortality rate was 15.6%. High pretransplant levels of 25OHVD failed to improve the survival probability. Cox's regression showed a 32.7% increased hazard ratio for each unit increase in body mass index (95% CI: 1.015-1.733, p = 0.038), in the VD-deficient group rather than in the VD-sufficient one. In conclusion, VD supplementation improves the biochemical status, especially in VD-deficient HT. However, its impact on the BMD and mortality was not as usually expected. Further investigation of the disturbed VD metabolism in HT is warranted.
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10.
  • Palmer, Elizabeth E., et al. (författare)
  • Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
  • 2023
  • Ingår i: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
  • Tidskriftsartikel (refereegranskat)abstract
    • Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
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11.
  • Ammirati, Enrico, et al. (författare)
  • Fulminant Versus Acute Nonfulminant Myocarditis in Patients With Left Ventricular Systolic Dysfunction
  • 2019
  • Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 74:3, s. 299-311
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Fulminant myocarditis (FM) is a form of acute myocarditis characterized by severe left ventricular systolic dysfunction requiring inotropes and/or mechanical circulatory support. A single-center study found that a patient with FM had better outcomes than those with acute nonfulminant myocarditis (NFM) presenting with left ventricular systolic dysfunction, but otherwise hemodynamically stable. This was recently challenged, so disagreement still exists. Objectives: This study sought to provide additional evidence on the outcome of FM and to ascertain whether patient stratification based on the main histologic subtypes can provide additional prognostic information. Methods: A total of 220 patients (median age 42 years, 46.3% female) with histologically proven acute myocarditis (onset of symptoms <30 days) all presenting with left ventricular systolic dysfunction were included in a retrospective, international registry comprising 16 tertiary hospitals in the United States, Europe, and Japan. The main endpoint was the occurrence of cardiac death or heart transplantation within 60 days from admission and at long-term follow-up. Results: Patients with FM (n = 165) had significantly higher rates of cardiac death and heart transplantation compared with those with NFM (n = 55), both at 60 days (28.0% vs. 1.8%, p = 0.0001) and at 7-year follow-up (47.7% vs. 10.4%, p < 0.0001). Using Cox multivariate analysis, the histologic subtype emerged as a further variable affecting the outcome in FM patients, with giant cell myocarditis having a significantly worse prognosis compared with eosinophilic and lymphocytic myocarditis. In a subanalysis including only adults with lymphocytic myocarditis, the main endpoints occurred more frequently in FM compared with in NFM both at 60 days (19.5% vs. 0%, p = 0.005) and at 7-year follow up (41.4% vs. 3.1%, p = 0.0004). Conclusions: This international registry confirms that patients with FM have higher rates of cardiac death and heart transplantation both in the short- and long-term compared with patients with NFM. Furthermore, we provide evidence that the histologic subtype of FM carries independent prognostic value, highlighting the need for timely endomyocardial biopsy in this condition.
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12.
  • Hong, Sanghee, et al. (författare)
  • Community health status and outcomes after allogeneic hematopoietic cell transplantation in the United States
  • 2021
  • Ingår i: Cancer. - : John Wiley & Sons. - 0008-543X .- 1097-0142. ; 127:4, s. 609-618
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The association of community factors and outcomes after hematopoietic cell transplantation (HCT) has not been comprehensively described. Using the County Health Rankings and Roadmaps (CHRR) and the Center for International Blood and Marrow Transplant Research (CIBMTR), this study evaluated the impact of community health status on allogeneic HCT outcomes.Methods: This study included 18,544 adult allogeneic HCT recipients reported to the CIBMTR by 170 US centers in 2014-2016. Sociodemographic, environmental, and community indicators were derived from the CHRR, an aggregate community risk score was created, and scores were assigned to each patient (patient community risk score [PCS]) and transplant center (center community risk score [CCS]). Higher scores indicated less healthy communities. The impact of PCS and CCS on patient outcomes after allogeneic HCT was studied.Results: The median age was 55 years (range, 18-83 years). The median PCS was -0.21 (range, -1.37 to 2.10; standard deviation [SD], 0.42), and the median CCS was -0.13 (range, -1.04 to 0.96; SD, 0.40). In multivariable analyses, a higher PCS was associated with inferior survival (hazard ratio [HR] per 1 SD increase, 1.04; 99% CI, 1.00-1.08;P= .0089). Among hematologic malignancies, a tendency toward inferior survival was observed with a higher PCS (HR, 1.04; 99% CI, 1.00-1.08;P= .0102); a higher PCS was associated with higher nonrelapse mortality (NRM; HR, 1.08; 99% CI, 1.02-1.15;P= .0004). CCS was not significantly associated with survival, relapse, or NRM.Conclusions: Patients residing in counties with a worse community health status have inferior survival as a result of an increased risk of NRM after allogeneic HCT. There was no association between the community health status of the transplant center location and allogeneic HCT outcomes.
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13.
  • Kashem, M A, et al. (författare)
  • Performances of two commercially available Newcastle disease vaccines in Bangladesh : A case-control study
  • 2011
  • Ingår i: Bangladesh journal of microbiology. - 1011-9981. ; 28:2, s. 88-91
  • Tidskriftsartikel (refereegranskat)abstract
    • The study was conducted to test the performances of two commercially available live vaccines named BCRDV1 (VG/GA strain) and BCRDV2 (F-strain). A total of 90 day-old broiler birds were divided into three different groups and the serum samples were collected at day 1, 7, 14, 21, 28 and 35; mean±SD of Haemgglutination Inhibition (HI) titres (log2) were found as 8±0.00, 7.2±0.89, 6.1±0.9, 7.1±0.75, 5.7±0.72, 4.1±0.68 and 8±0.00, 6.0±0.76, 4.8±0.81, 5.8±0.83, 4.9±0.86, 3.8±0.77 in group I and group II respectively, which was significant (P< 0.01). In control (group III) the mean±SD was found to be 8±0.00, 5.8±0.87, 4.9±0.69, 4.1±0.48, 3.0±0.56 and <2±0 respectively. The titres of control group infer that the maternal antibody usually had a tendency to decline and may pose a risk of infection. In protection test, 100% mortality were found in control group (III) but in group I and group II the mortality of birds were 6.67% and 10%, respectively. The analysis of HI titres with the target to determine the performance of two vaccines revealed that BCRDV1 vaccinated groups was able to maintain significantly higher HI titres than BCRDV2 vaccinated group. Key Words: BCRDV, HI test, Newcastle disease, Broiler birds
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14.
  • Amin, Heba M., et al. (författare)
  • 1,2 Propanediol utilization by Lactobacillus reuteri DSM 20016, role in bioconversion of glycerol to 1,3 propanediol, 3-hydroxypropionaldehyde and 3-hydroxypropionic acid
  • 2013
  • Ingår i: Journal of Genetic Engineering and Biotechnology. - : Springer Science and Business Media LLC. - 1687-157X. ; 11:1, s. 53-59
  • Tidskriftsartikel (refereegranskat)abstract
    • The objective of the presented work is to demonstrate the metabolism of 1,2 propandiol by Lactobacillus reuteri and to elucidate the metabolites produced during the process. This Metabolic pathway is crucial for biotechnological applications using L. reuteri in bioconversion of glycerol to industrially important plate-form chemicals. L. reuteri grown on minimal media containing 1,2 propanediol was able to utilize the compound as a sole carbon and energy source. The growth of the bacteria was linear with time; however the specific growth rate was significantly low compared to bacteria grown on the same media in the presence of glucose.The fermentation of 1,2 propanediol by L. reuteri in presence and absence of glucose was followed for 72 h and the metabolites produced during the process were detected using HPLC. 1,2 Propanediol was completely converted to propionaldhyde in a time dependent fashion, this process had a higher rate in presence of glucose. Consequently the produced propionaldhyde was converted to propionic acid and propanol in a skewed equimolar manner. In presence of glucose: acetic acid, lactic acid, succinic acid and ethanol were detected while in absence of glucose only minute amounts of acetic acid and lactic acid were detected which indicates presence of different metabolic pathways for glucose and 1,2 propanediol metabolism. Resting cells of L. reuteri induced in presence of 1,2 propanediol have shown significant capabilities to convert aqueous glycerol to 1,3 propanediol, 3-hydroxypropionaldhyde and a compound proposed to be 3-hydroxypropionic acid as detected by gas chromatographic technique.
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15.
  • Månsson, Cecilia, et al. (författare)
  • Interaction of the molecular chaperone DNAJB6 with growing amyloid-beta 42 (Aβ42) aggregates leads to sub-stoichiometric inhibition of amyloid formation.
  • 2014
  • Ingår i: Journal of Biological Chemistry. - 1083-351X. ; 289:45, s. 31066-31076
  • Tidskriftsartikel (refereegranskat)abstract
    • The human molecular chaperone protein DNAJB6 was recently found to inhibit the formation of amyloid fibrils from polyglutamine peptides associated with neurodegenerative disorders such as Huntington's disease. We show in the present study that DNAJB6 also inhibits amyloid formation by an even more aggregation-prone peptide (the amyloid-beta peptide, (Aβ42)(2), implicated in Alzheimer's disease)in a highly efficient manner. By monitoring fibril formation using Thioflavin T fluorescence and far-UV CD spectroscopy, we have found that the aggregation of Aβ42 is retarded by DNAJB6 in a concentration dependent manner, extending to very low sub-stoichiometric molar ratios of chaperone to peptide. Quantitative kinetic analysis and immunochemistry studies suggest that the high inhibitory efficiency is due to the interactions of the chaperone with aggregated forms of Aβ42 rather than the monomeric form of the peptide. This interaction prevents the growth of such species to longer fibrils and inhibits the formation of new amyloid fibrils through both primary and secondary nucleation. A low dissociation rate of DNAJB6 from Aβ42 aggregates leads to its incorporation into growing fibrils and hence to its gradual depletion from solution with time. When DNAJB6 is eventually depleted, fibril proliferation takes place, but the inhibitory activity can be prolonged by introducing DNAJB6 at regular intervals during the aggregation reaction. These results reveal the highly efficacious mode of action of this molecular chaperone against protein aggregation, and demonstrate that the role of molecular chaperones can involve interactions with multiple aggregated species leading to the inhibition of both principal nucleation pathways through which aggregates are able to form.
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16.
  • Rosenhahn, Erik, et al. (författare)
  • Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
  • 2022
  • Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
  • Tidskriftsartikel (refereegranskat)abstract
    • PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications. 
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17.
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18.
  • Buchbinder, David, et al. (författare)
  • Predictors of Loss to Follow-Up Among Pediatric and Adult Hematopoietic Cell Transplantation Survivors : A Report from the Center for International Blood and Marrow Transplant Research
  • 2020
  • Ingår i: Biology of blood and marrow transplantation. - : Elsevier. - 1083-8791 .- 1523-6536. ; 26:3, s. 553-561
  • Tidskriftsartikel (refereegranskat)abstract
    • Follow-up is integral for hematopoietic cell transplantation (HCT) care to ensure surveillance and intervention for complications. We characterized the incidence of and predictors for being lost to follow-up. Two-year survivors of first allogeneic HCT (10,367 adults and 3865 children) or autologous HCT (7291 adults and 467 children) for malignant/nonmalignant disorders between 2002 and 2013 reported to the Center for International Blood and Marrow Transplant Research were selected. The cumulative incidence of being lost to follow-up (defined as having missed 2 consecutive follow-up reporting periods) was calculated. Marginal Cox models (adjusted for center effect) were fit to evaluate predictors. The 10-year cumulative incidence of being lost to follow-up was 13% (95% confidence interval [CI], 12% to 14%) in adult allogeneic HCT survivors, 15% (95% CI, 14% to 16%) in adult autologous HCT survivors, 25% (95% CI, 24% to 27%) in pediatric allogeneic HCT survivors, and 24% (95% CI, 20% to 29%) in pediatric autologous HCT survivors. Factors associated with being lost to follow-up include younger age, nonmalignant disease, public/no insurance (reference: private), residence farther from the tranplantation center, and being unmarried in adult allogeneic HCT survivors; older age and testicular/germ cell tumor (reference: non-Hodgkin lymphoma) in adult autologous HCT survivors; older age, public/no insurance (reference: private), and nonmalignant disease in pediatric allogeneic HCT survivors; and older age in pediatric autologous HCT survivors. Follow-up focusing on minimizing attrition in high-risk groups is needed to ensure surveillance for late effects.
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19.
  • Ebeed, Mohamed, et al. (författare)
  • Solving stochastic optimal reactive power dispatch using an Adaptive Beluga Whale optimization considering uncertainties of renewable energy resources and the load growth
  • 2024
  • Ingår i: Ain Shams Engineering Journal. - : ELSEVIER. - 2090-4479 .- 2090-4495. ; 15:7
  • Tidskriftsartikel (refereegranskat)abstract
    • The electrical system performance can be improved considerably by controlling the reactive power flow in the system. The reactive power control can be achieved by optimal reactive power dispatch (ORPD) problem solution and optimal integration of the FACTS devices. With high penetration of renewable energy sources (RESs) and the load growth, the ORPD solution became a challenging and a complex task due to the stochastic nature of the RERs and the load growth. In this regard, the aim of this paper is to solve the stochastic optimal reactive power dispatch (SORPD) with optimal inclusion of PV units, wind turbines and the unified power flow controller (UPFC) under uncertainties of the load growth and the generated powers. An Adaptive Beluga Whale Optimization (ABWO) is proposed for solving the SORPD which is based on the Fitness-Distance Balance Selection (FDBS) strategy and the territorial solitary males' strategy of the Mountain Gazelle Optimizer. The proposed ABWO is tested on IEEE 30-bus system and a comparison with other optimization techniques for solving the ordinary ORPD is presented for validating the proposed ABWO. The obtained results reveal that the TEPL is reduced from 5.3168 MW to 3.97985 MW with optimal integration of the RERs and UPFC. Likewise, the TEVD is reduced from 0.1794p.u. to 0.10689p.u. and the TVSI is decreased from 0.1289p.u. to 0.0476p.u.
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20.
  • Ghalambaz, Mohammad, et al. (författare)
  • Study of thermal and hydrodynamic characteristics of water-nano-encapsulated phase change particles suspension in an annulus of a porous eccentric horizontal cylinder
  • 2020
  • Ingår i: International Journal of Heat and Mass Transfer. - : Elsevier BV. - 0017-9310 .- 1879-2189. ; 156
  • Tidskriftsartikel (refereegranskat)abstract
    • In this paper, the thermal and hydrodynamic characteristics of a suspension with water-Nano-Encapsulated Phase Change Material (NEPCM) in an annulus of a porous eccentric horizontal cylinder are investigated. The NEPCM particles have a core-shell structure and stability suspended in water. Hence, the particles, along with the liquid, could freely circulate inside the annuli of the horizontal cylinder due to the buoyancy forces. The cores of these particles are made from a Phase Change Material (PCM). Moreover, such cores are in a continuous exchange of heat transfer between the solid and liquid phases. The heat transfer is acting in a combination of absorption, storage, and release mechanisms. The governing equations for the fluid motions and conservation of energy could be written in partial differential forms and by using the appropriate non-dimensional variables converted into non-dimensional ones. Then, the numerical approach is applied by implementing the finite element method (FEM) to solve such equations iteratively. The impact of various non-dimensional parameters including the fusion temperature, Stefan number, Rayleigh number, Darcy number, the volume fraction of nanoparticles, and eccentricity of the inner cylinder is addressed on the flow and heat transfer. It is observed that the most favourable fusion temperature ranges for the maximum heat transfer rate vary as a function of the Rayleigh number. In addition, the heat transfer rate can be enhanced by applying the phase change core of nanoparticles.
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21.
  • Haghbayan, Mohammad-Hashem, et al. (författare)
  • A Lifetime-Aware Runtime Mapping Approach for Many-core Systems in the Dark Silicon Era
  • 2016
  • Ingår i: PROCEEDINGS OF THE 2016 DESIGN, AUTOMATION &amp; TEST IN EUROPE CONFERENCE &amp; EXHIBITION (DATE). - : IEEE conference proceedings. - 9783981537079 ; , s. 854-857
  • Konferensbidrag (refereegranskat)abstract
    • In this paper, we propose a novel lifetime reliability-aware resource management approach for many-core architectures. The approach is based on hierarchical architecture, composed of a long-term runtime reliability analysis unit and a short-term runtime mapping unit. The former periodically analyses the aging status of the various processing units with respect to a target value specified by the designer, and performs recovery actions on highly stressed cores. The calculated reliability metrics are utilized in runtime mapping of the newly arrived applications to maximize the performance of the system while fulfilling reliability requirements and the available power budget. Our extensive experimental results reveal that the proposed reliability-aware approach can efficiently select the processing cores to be used over time in order to enhance the reliability at the end of the operational life (up to 62%) while offering the comparable performance level of the state-of-the-art runtime mapping approach.
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22.
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23.
  • Kanduri, Anil, et al. (författare)
  • Accuracy-Aware Power Management for Many-Core Systems Running Error-Resilient Applications
  • 2017
  • Ingår i: IEEE Transactions on Very Large Scale Integration (vlsi) Systems. - : IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC. - 1063-8210 .- 1557-9999. ; 25:10, s. 2749-2762
  • Tidskriftsartikel (refereegranskat)abstract
    • Power capping techniques based on dynamic voltage and frequency scaling (DVFS) and power gating (PG) are oriented toward power actuation, compromising on performance and energy. Inherent error resilience of emerging application domains, such as Internet-of-Things (IoT) and machine learning, provides opportunities for energy and performance gains. Leveraging accuracy-performance tradeoffs in such applications, we propose approximation (APPX) as another knob for close-looped power management, to complement power knobs with performance and energy gains. We design a power management framework, APPEND+, that can switch between accurate and approximate modes of execution subject to system throughput requirements. APPEND+ considers the sensitivity of the application to error to make disciplined alteration between levels of APPX such that performance is maximized while error is minimized. We implement a power management scheme that uses APPX, DVFS, and PG knobs hierarchically. We evaluated our proposed approach over machine learning and signal processing applications along with two case studies on IoT-early warning score system and fall detection. APPEND+ yields 1.9x higher throughput, improved latency up to five times, better performance per energy, and dark silicon mitigation compared with the state-of-the-art power management techniques over a set of applications ranging from high to no error resilience.
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24.
  • Kanduri, Anil, et al. (författare)
  • Approximation Knob : Power Capping Meets Energy Efficiency
  • 2016
  • Ingår i: 2016 IEEE/ACM INTERNATIONAL CONFERENCE ON COMPUTER-AIDED DESIGN (ICCAD). - New York, NY, USA : Institute of Electrical and Electronics Engineers (IEEE). - 9781450344661
  • Konferensbidrag (refereegranskat)abstract
    • Power Capping techniques are used to restrict power consumption of computer systems to a thermally safe limit. Current many-core systems employ dynamic voltage and frequency scaling (DVFS), power gating (PG) and scheduling methods as actuators for power capping. These knobs are oriented towards power actuation, while the need for performance and energy savings are increasing in the dark silicon era. To address this, we propose approximation (APPX) as another knob for close-looped power management, lending performance and energy efficiency to existing power capping techniques. We use approximation in a pro-active way for long-term performance-energy objectives, complementing the short-term reactive power objectives. We implement an approximation-enabled power management framework, APPEND, that dynamically chooses an application with appropriate level of approximation from a set of variable accuracy implementations. Subject to the system dynamics, our power manager chooses an effective combination of knobs APPX, DVFS and PG, in a hierarchical way to ensure power capping with performance and energy gains. Our proposed approach yields 1.5x higher throughput, improved latency upto 5x, better performance per energy and dark silicon mitigation compared to state-of-the-art power management techniques over a set of applications ranging from high to no error resilience.
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25.
  • Mostafavi, E.S., et al. (författare)
  • A hybrid computational approach to estimate solar global radiation: An empirical evidence from Iran
  • 2013
  • Ingår i: Energy. - : Elsevier BV. - 0360-5442. ; 49:1, s. 204-210
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper presents an innovative hybrid approach for the estimation of the solar global radiation. New prediction equations were developed for the global radiation using an integrated search method of genetic programming (GP) and simulated annealing (SA), called GP/SA. The solar radiation was formulated in terms of several climatological and meteorological parameters. Comprehensive databases containing monthly data collected for 6 years in two cities of Iran were used to develop GP/SA-based models. Separate models were established for each city. The generalization of the models was verified using a separate testing database. A sensitivity analysis was conducted to investigate the contribution of the parameters affecting the solar radiation. The derived models make accurate predictions of the solar global radiation and notably outperform the existing models.
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26.
  • Rahmani, Amir M., et al. (författare)
  • Reliability-Aware Runtime Power Management for Many-Core Systems in the Dark Silicon Era
  • 2017
  • Ingår i: IEEE Transactions on Very Large Scale Integration (vlsi) Systems. - : IEEE Press. - 1063-8210 .- 1557-9999. ; 25:2, s. 427-440
  • Tidskriftsartikel (refereegranskat)abstract
    • Power management of networked many-core systems with runtime application mapping becomes more challenging in the dark silicon era. It necessitates considering network characteristics at runtime to achieve better performance while honoring the peak power upper bound. On the other hand, power management has a direct effect on chip temperature, which is the main driver of the aging effects. Therefore, alongside performance fulfillment, the controlling mechanism must also consider the current cores' reliability in its actuator manipulation to enhance the overall system lifetime in the long term. In this paper, we propose a multiobjective dynamic power management technique that uses current power consumption and other network characteristics including the reliability of the cores as the feedback while utilizing fine-grained voltage and frequency scaling and per-core power gating as the actuators. In addition, disturbance rejecter and reliability balancer are designed to help the controller to better smooth power consumption in the short term and reliability in the long term, respectively. Simulations of dynamic workloads and mixed criticality application profiles show that our method not only is effective in honoring the power budget while considerably boosting the system throughput, but also increases the overall system lifetime by minimizing aging effects by means of power consumption balancing.
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