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1.
Michal Becker-Cohen Ari Zimran Tama Dinur Maayan Tiomkin Claudia Cozma Arndt Rolfs David Arkadir Elena Shulman Orly Manor Ora Paltiel Gilad Yahalom Daniela Berg Shoshana Revel-Vilk 《International journal of molecular sciences》2022,23(20)
Carriers of GBA1 gene variants have a significant risk of developing Parkinson’s disease (PD). A cohort study of GBA carriers between 40–75 years of age was initiated to study the presence of prodromal PD features. Participants underwent non-invasive tests to assess different domains of PD. Ninety-eight unrelated GBA carriers were enrolled (43 males) at a median age (range) of 51 (40–74) years; 71 carried the N370S variant (c.1226A > G) and 25 had a positive family history of PD. The Montreal Cognitive Assessment (MoCA) was the most frequently abnormal (23.7%, 95% CI 15.7–33.4%), followed by the ultrasound hyperechogenicity (22%, 95% CI 14–32%), Unified Parkinson’s Disease Rating Scale part III (UPDRS-III) (17.2%, 95% CI 10.2–26.4%), smell assessment (12.4%, 95% CI 6.6–20.6%) and abnormalities in sleep questionnaires (11%, 95% CI 5.7–19.4%). Significant correlations were found between tests from different domains. To define the risk for PD, we assessed the bottom 10th percentile of each prodromal test, defining this level as “abnormal”. Then we calculated the percentage of “abnormal” tests for each subject; the median (range) was 4.55 (0–43.5%). Twenty-two subjects had more than 15% “abnormal” tests. The limitations of the study included ascertainment bias of individuals with GBA-related PD in relatives, some incomplete data due to technical issues, and a lack of well-characterized normal value ranges in some tests. We plan to enroll additional participants and conduct longitudinal follow-up assessments to build a model for identifying individuals at risk for PD and investigate interventions aiming to delay the onset or perhaps to prevent full-blown PD. 相似文献
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Tama Dinur Peter Bauer Christian Beetz Guido Kramp Claudia Cozma Marius-Ionu Iuracu Michal Becker-Cohen Majdolen Istaiti Arndt Rolfs Ari Zimran Shoshana Revel-Vilk 《International journal of molecular sciences》2022,23(3)
For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need for a small amount of blood, and simpler transportation. However, DBS has limitations for measuring GCase activity. In this paper, we recount our cross-sectional study and publish seven years of experience using DBS samples and levels of the deacylated form of glucocerebroside, glucosylsphingosine (lyso-Gb1), for GD diagnosis. Of 444 screened subjects, 99 (22.3%) were diagnosed with GD at a median (range) age of 21 (1–78) years. Lyso-Gb levels for genetically confirmed GD patients vs. subjects negative to GD diagnosis were 252 (9–1340) ng/mL and 5.4 (1.5–16) ng/mL, respectively. Patients diagnosed with GD1 and mild GBA1 variants had lower median (range) lyso-Gb1, 194 (9–1050), compared to GD1 and severe GBA1 variants, 447 (38–1340) ng/mL, and neuronopathic GD, 325 (116–1270) ng/mL (p = 0.001). Subjects with heterozygous GBA1 variants (carrier) had higher lyso-Gb1 levels, 5.8 (2.5–15.3) ng/mL, compared to wild-type GBA1, 4.9 (1.5–16), ng/mL (p = 0.001). Lyso-Gb1 levels, median (range), were 5 (2.7–10.7) in heterozygous GBA1 carriers with Parkinson’s disease (PD), similar to lyso-Gb1 levels in subjects without PD. We call for a paradigm change for the diagnosis of GD based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in DBS. Lyso-Gb1 levels could not be used to differentiate between heterozygous GBA1 carriers and wild type. 相似文献
3.
This research study focuses on the application of conductive ink by the screen printing technique to evaluate the potential of creating printed electrodes and to investigate the effect of washing upon electrical resistance and flexibility. Two conductive inks were applied by a conventional screen printing method on four different textile substrates, 100% cotton, 50%/50% cotton/polyester, 100% polyester and 100% polyamide. The inks were also applied on a multifibre fabric. Atmospheric plasma treatment was applied to improve the adhesion to the samples, and the resistance values were compared with those of non‐treated samples. The values were measured before and after cleaning and washing tests, which were performed to simulate domestic treatment for garments to predict the behaviour of the inks after normal usage of the fabrics. Comfort properties like stiffness of the fabrics were also evaluated after five and 10 washing cycles. It was observed that PE 825 ink forms a thicker film on the fabric surface, contributing to the loss of flexibility of the textile. However, PE 825 ink also produced the best results in terms of durability and lower values of resistance. Polyamide fabrics lost their conductive property after five washing cycles due to weak bonding between the ink and the fibres, whereas cotton fibres provided the best results. 相似文献
4.
Tama Fouzder Asit Kumar Gain Y.C. Chan A. Sharif Winco K.C. Yung 《Microelectronics Reliability》2010,50(12):2051-2058
Nano-sized, nonreacting, noncoarsening Al2O3 particles have been incorporated into eutectic Sn–Zn solder alloys to investigate the microstructure, hardness and shear strength on Au/Ni metallized Cu pads ball grid array substrate (BGA). In the plain Sn–Zn solder joint and solder joints containing Al2O3 nano-particles, a scallop-shaped AuZn3 intermetallic compound layer was found at the interfaces. In the solder joints containing Al2O3 nano-particles, a fine acicular-shaped Zn-rich phase and Al2O3 nano-particles were found to be homogeneously distributed in the β-Sn matrix. The shear strengths and hardness of solder joints containing higher percentage of Al2O3 nano-particles exhibited consistently higher value than those of plain solder joint and solder joints containing lower percentage of Al2O3 nano-particles due to control the fine microstructure as well as homogeneous distribution of Al2O3 nano-particles acting as a second phase dispersion strengthening mechanism. The fracture surfaces of plain Sn–Zn solder joints exhibited a brittle fracture mode with smooth surfaces while Sn–Zn solder joints containing Al2O3 nano-particles showed a typical ductile failure with very rough dimpled surfaces. 相似文献
5.
Provides a comprehensive review of research on the effects of neighborhood residence on child and adolescent well-being. The 1st section reviews key methodological issues. The following section considers links between neighborhood characteristics and child outcomes and suggests the importance of high SES for achievement and low SES and residential instability for behavioral/emotional outcomes. The third section identifies 3 pathways (institutional resources, relationships, and norms/collective efficacy) through which neighborhoods might influence development, and which represent an extension of models identified by C. Jencks and S. Mayer (1990) and R. J. Sampson (1992). The models provide a theoretical base for studying neighborhood mechanisms and specify different levels (individual, family, school, peer, community) at which processes may operate. Implications for an emerging developmental framework for research on neighborhoods are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
6.
Tama Fouzder Qingqian Li Y. C. Chan Daniel K. Chan 《Journal of Materials Science: Materials in Electronics》2014,25(6):2529-2539
In order to identify the effect on the properties and behavior of tin–zinc–bismuth (Sn-8 wt% Zn-3 wt% Bi or Sn-13.6 at.% Zn-1.6 at.% Bi) based solders produced by adding nickel (Ni) nano-particles, the interfacial microstructure between plain and composite solders with newly developed immersion silver (Ag) plated copper (Cu) substrates has been investigated as a function of reaction time, at various temperatures. For plain Sn–8Zn–3Bi solder joints, a scallop-shaped Cu–Zn–Ag intermetallic compound layer was found to adhere to the surface of the immersion Ag-plated Cu substrate. However, after addition of Ni nano-particles into the Sn–8Zn–3Bi solder, Cu–Zn–Ag (at the bottom) and (Cu, Ni)–Zn (at the top) intermetallic compound layers were observed at the interfaces. In addition, these intermetallic compound layer thicknesses increased substantially with increases in the temperature and reaction time. In the solder ball region, needle-shaped α-Zn rich phase and spherically-shaped Bi-particles appeared to be homogeneously distributed throughout a beta-tin (β-Sn) matrix. However, after the addition of Ni nano-particles, needle-shaped α-Zn rich phase appeared that exhibited a fine microstructure, due to the heterogeneous nucleation of the Ni nano-particles. The calculated activation energy for the Cu–Zn–Ag intermetallic compound layer for the plain Sn–8Zn–3Bi solder/immersion Ag-plated Cu system was 29.95 kJ/mol—while the activation energy for the total [Cu–Zn–Ag + (Cu, Ni)–Zn] intermetallic compound layers formed in the Sn–8Zn–3Bi–0.5Ni (Sn-13.6 at.% Zn-1.6 at.% Bi ~1 at.% Ni) composite solder/immersion Ag-plated Cu system was 27.95 kJ/mol. Addition of Ni nano-particles reduces the activation energy which enhanced the reaction rate as we know that lower the activation energy indicates faster the reaction rate. 相似文献
7.
A. Balčiūnaitė Z. Sukackienė K. Antanavičiūtė J. Vaičiūnienė A. Naujokaitis L. Tamašauskaitė-Tamašiūnaitė E. Norkus 《International Journal of Hydrogen Energy》2021,46(2):1989-1996
Effective Co/Cu, CoB/Cu, and CoBM (M = Mo,Zn,Fe)/Cu catalysts were prepared on the copper surface by a simple electroless deposition method using a morpholine borane as a reducing agent in the glycine solution. The activity of the deposited catalysts was investigated for hydrogen generation from an alkaline sodium borohydride solution. It was determined that these synthesized catalysts demonstrated the catalytic activity for the hydrolysis reaction of NaBH4. The lowest obtained activation energy (EA) of the hydrolysis reaction of NaBH4was 27 kJ mol?1 for the CoBMo/Cu catalyst. The hydrogen generation rate of 15.30 ml min?1 was achieved using CoBMo/Cu catalysts at 313 K and it increased ~3.5 times with the increase of temperature to 343 K. The highest hydrogen generation rate obtained by CoBMo/Cu films may be related to the hierarchical cauliflower-shaped 3D structures and the high roughness surface area. Moreover, the CoBMo/Cu catalyst showed an excellent reusability. 相似文献
8.
The authors examined how neighborhood disorder modifies associations between family management practices and youth transitions to sex among low-income African American and Latino urban families. The sample included 846 young adolescents and their mothers who participated in Welfare, Children and Families: A Three-City Study. Results from multilevel logistic regression models indicated no main effects of family management practices or neighborhood-level conditions on transitions to sex once accounting for demographics. However, higher levels of family routines and parental knowledge (i.e., awareness of youths’ friends, whereabouts, and activities) were more strongly associated with a lower probability of youth sexual onset as neighborhood disorder increased. Results provide further evidence for the contextually specific nature of parenting impacts on adolescent adjustment. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
9.
Albert M. Schulte Duan Kolarski Vidya Sundaram Ashutosh Srivastava Florence Tama Ben L. Feringa Wiktor Szymanski 《International journal of molecular sciences》2022,23(10)
Protein kinases are responsible for healthy cellular processes and signalling pathways, and their dysfunction is the basis of many pathologies. There are numerous small molecule inhibitors of protein kinases that systemically regulate dysfunctional signalling processes. However, attaining selectivity in kinase inhibition within the complex human kinome is still a challenge that inspires unconventional approaches. One of those approaches is photopharmacology, which uses light-controlled bioactive molecules to selectively activate drugs only at the intended space and time, thereby avoiding side effects outside of the irradiated area. Still, in the context of kinase inhibition, photopharmacology has thus far been rather unsuccessful in providing light-controlled drugs. Here, we present the discovery and optimisation of a photoswitchable inhibitor of casein kinase 1δ (CK1δ), important for the control of cell differentiation, circadian rhythm, DNA repair, apoptosis, and numerous other signalling processes. Varying the position at which the light-responsive azobenzene moiety has been introduced into a known CK1δ inhibitor, LH846, revealed the preferred regioisomer for efficient photo-modulation of inhibitory activity, but the photoswitchable inhibitor suffered from sub-optimal (photo)chemical properties. Replacement of the bis-phenyl azobenzene group with the arylazopyrazole moiety yielded a superior photoswitch with very high photostationary state distributions, increased solubility and a 10-fold difference in activity between irradiated and thermally adapted samples. The reasons behind those findings are explored with molecular docking and molecular dynamics simulations. Results described here show how the evaluation of privileged molecular architecture, followed by the optimisation of the photoswitchable unit, is a valuable strategy for the challenging design of the photoswitchable kinase inhibitors. 相似文献
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