| 1. |
- Aad, G, et al.
(författare)
-
- 2015
-
swepub:Mat__t
|
|
| 2. |
- Helbig, K. L., et al.
(författare)
-
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- 2018
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
-
Tidskriftsartikel (refereegranskat)abstract
- Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
|
|
| 3. |
|
|
| 4. |
- Bilal, M., et al.
(författare)
-
Single Versus Double IRS-Assisted Networks : A Comparative Analysis Using Practical Phase Shifting
- 2024
-
Ingår i: IEEE Wireless Communications and Networking Conference, WCNC. - : IEEE conference proceedings. - 9798350303582
-
Konferensbidrag (refereegranskat)abstract
- Intelligent reflecting surfaces (IRSs) have been considered to revolutionize beyond 5G and 6G systems as they help increase signal strength through their ability to control radio environments effectively. Introducing IRS assistance in a single-input single-output (SISO) network has been proven to improve the system's performance. This paper compares the performance of a single IRS-assisted SISO system against a double IRS-assisted system under various wireless network setups. Our work relies on a shared allocation scheme of IRS elements, where a practical phase-dependent amplitude phase shift model is utilized along with discrete phase shifts to develop a reliable and energy-efficient system. We observe energy efficiency while altering system parameters to identify the limits where each system works better. The simulation results show that two IRSs perform better at large deployments, whereas a single IRS performs better in compact environments.
|
|
| 5. |
- Lauque, Dominique, et al.
(författare)
-
Length-of-Stay in the Emergency Department and In-Hospital Mortality : A Systematic Review and Meta-Analysis
- 2022
-
Ingår i: Journal of Clinical Medicine. - : MDPI. - 2077-0383. ; 12:1
-
Forskningsöversikt (refereegranskat)abstract
- The effect of emergency department (ED) length of stay (EDLOS) on in-hospital mortality (IHM) remains unclear. The aim of this systematic review and meta-analysis was to determine the association between EDLOS and IHM. We searched the PubMed, Medline, Embase, Web of Science, Cochrane Controlled Register of Trials, CINAHL, PsycInfo, and Scopus databases from their inception until 14-15 January 2022. We included studies reporting the association between EDLOS and IHM. A total of 11,337 references were identified, and 52 studies (total of 1,718,518 ED patients) were included in the systematic review and 33 in the meta-analysis. A statistically significant association between EDLOS and IHM was observed for EDLOS over 24 h in patients admitted to an intensive care unit (ICU) (OR = 1.396, 95% confidence interval [CI]: 1.147 to 1.701; p < 0.001, I2 = 0%) and for low EDLOS in non-ICU-admitted patients (OR = 0.583, 95% CI: 0.453 to 0.745; p < 0.001, I2 = 0%). No associations were detected for the other cut-offs. Our findings suggest that there is an association between IHM low EDLOS and EDLOS exceeding 24 h and IHM. Long stays in the ED should not be allowed and special attention should be given to patients admitted after a short stay in the ED.
|
|
| 6. |
- Almeida, J. M. P., et al.
(författare)
-
Femtosecond laser processing of glassy and polymeric matrices containing metals and semiconductor nanostructures
- 2013
-
Ingår i: Optical materials (Amsterdam). - : Elsevier BV. - 0925-3467 .- 1873-1252. ; 35:12, s. 2643-2648
-
Tidskriftsartikel (refereegranskat)abstract
- Tailoring properties of materials by femtosecond laser processing has been proposed in the last decade as a powerful approach for technological applications, ranging from optics to biology. Although most of the research output in this field is related to femtosecond laser processing of single either organic or inorganic materials, more recently a similar approach has been proposed to develop advanced hybrid nanomaterials. Here, we report results on the use of femtosecond lasers to process hybrid nanomaterials, composed of polymeric and glassy matrices containing metal or semiconductor nanostructures. We present results on the use of femtosecond pulses to induce Cu and Ag nanoparticles in the bulk of borate and borosilicate glasses, which can be applied for a new generation of waveguides. We also report on 3D polymeric structures, fabricated by two-photon polymerization, containing Au and ZnO nanostructures, with intense two-photon fluorescent properties. The approach based on femtosecond laser processing to fabricate hybrid materials containing metal or semiconductor nanostructures is promising to be exploited for optical sensors and photonics devices.
|
|
| 7. |
- Asim, M, et al.
(författare)
-
Synthetic lethality between androgen receptor signalling and the PARP pathway in prostate cancer
- 2017
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8:1, s. 374-
-
Tidskriftsartikel (refereegranskat)abstract
- Emerging data demonstrate homologous recombination (HR) defects in castration-resistant prostate cancers, rendering these tumours sensitive to PARP inhibition. Here we demonstrate a direct requirement for the androgen receptor (AR) to maintain HR gene expression and HR activity in prostate cancer. We show that PARP-mediated repair pathways are upregulated in prostate cancer following androgen-deprivation therapy (ADT). Furthermore, upregulation of PARP activity is essential for the survival of prostate cancer cells and we demonstrate a synthetic lethality between ADT and PARP inhibition in vivo. Our data suggest that ADT can functionally impair HR prior to the development of castration resistance and that, this potentially could be exploited therapeutically using PARP inhibitors in combination with androgen-deprivation therapy upfront in advanced or high-risk prostate cancer.
|
|
| 8. |
- Basharat, S., et al.
(författare)
-
Ergodic Rate Analysis of RIS-Assisted BAC-NOMA Systems Under Nakagami-m Fading
- 2023
-
Ingår i: GLOBECOM 2023 - 2023 IEEE Global Communications Conference. - : Institute of Electrical and Electronics Engineers (IEEE). - 9798350310900 ; , s. 2378-2383
-
Konferensbidrag (refereegranskat)abstract
- In this paper, we investigate the reconfigurable intelligent surface (RIS)-assisted non-orthogonal multiple access-based backscatter communication (BAC-NOMA) system under Nakagami-m fading channels and element-splitting protocol. To evaluate the system performance, we first approximate the composite channel gain, i.e., the product of the forward and backscatter channel gains, as a Gamma random variable via the central limit theorem (CLT) and method of moments (MoM). Then, by leveraging the obtained results, we derive the closed-form expressions for the ergodic rates of the strong and weak backscatter nodes (BNs). To provide further insights, we conduct the asymptotic analysis in the high signal-to-noise ratio (SNR) regime. Our numerical results show an excellent correlation with the simulation results, validating our analysis, and demonstrate that the desired system performance can be achieved by adjusting the power reflection and element-splitting coefficients. Moreover, the results reveal the significant performance gain of the RIS-assisted BAC-NOMA system over the conventional BAC-NOMA system.
|
|
| 9. |
- Dev, Donovan A., et al.
(författare)
-
Comparing suicide completion rates in bipolar I versus bipolar II disorder : A systematic review and meta-analysis
- 2024
-
Ingår i: Journal of Affective Disorders. - : Elsevier. - 0165-0327 .- 1573-2517. ; 361, s. 480-488
-
Forskningsöversikt (refereegranskat)abstract
- BackgroundBipolar disorder (BD) has a high disease burden and the highest mortality risk in BD comes from suicide. Bipolar disorder type II (BD-II) has been described as a milder form of bipolar disorder; however, extant literature is inconsistent with this description and instead describe illness burden and notably suicidality comparable to persons with bipolar I disorder (BD-I). Towards quantifying the hazard of BD-II, herein we aim via systematic review and meta-analysis to evaluate the rates of completed suicide in BD-I and BD-II.MethodWe conducted a literature search on PubMed, OVID (Embase, Medline) and PsychINFO databases from inception to June 30th, 2023, according to PRISMA guidelines. Articles were selected based on the predetermined eligibility criteria. A meta-analysis was performed, comparing the risk of completed suicide between individuals diagnosed with BD-I to BD-II.ResultsFour out of eight studies reported higher suicide completion rates in persons living with BD-II when compared to persons living with BD-I; however, two of the studies reported non-significance. Two studies reported significantly higher suicide completion rates for BD-I than BD-II. The pooled odds ratio of BD-II suicide rates to BD-I was 1.00 [95 % CI = 0.75, 1.34].LimitationsThe overarching limitation is the small number of studies and heterogeneity of studies that report on suicide completion in BD-I and BD-II.ConclusionOur study underscores the severity of BD-II, with a risk for suicide not dissimilar from BD-I. The greater propensity to depression, comorbidity and rapid-cycling course reported in BD-II are contributing factors to the significant mortality hazard in BD-II.
|
|
| 10. |
|
|
