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https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#1
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29041138/window-wideband-demodulator-for-optical-waveforms
#2
Omri Lev, Tal Wiener, Deborah Cohen, Yonina C Eldar
Optical communication systems, which operate at very high rates, are often limited by the sampling rate bottleneck. The optical wideband regime may exceed analog to digital converters (ADCs) front-end bandwidth. Multi-channel sampling approaches, such as interleaved ADCs, also known as multicoset sampling in some contexts, have been proposed to sample the wideband signal using several channels. Each channel samples below the Nyquist rate such that the overall sampling rate is preserved. However, this scheme suffers from two practical limitations that make its implementation difficult...
August 7, 2017: Optics Express
https://www.readbyqxmd.com/read/29038547/a-novel-fer-fert-targeting-compound-selectively-evokes-metabolic-stress-and-necrotic-death-in-malignant-cells
#3
Yoav Elkis, Moshe Cohen, Etai Yaffe, Shirly Satmary-Tusk, Tal Feldman, Elad Hikri, Abraham Nyska, Ariel Feiglin, Yanay Ofran, Sally Shpungin, Uri Nir
Disruption of the reprogrammed energy management system of malignant cells is a prioritized goal of targeted cancer therapy. Two regulators of this system are the Fer kinase, and its cancer cell specific variant, FerT, both residing in subcellular compartments including the mitochondrial electron transport chain. Here, we show that a newly developed inhibitor of Fer and FerT, E260, selectively evokes metabolic stress in cancer cells by imposing mitochondrial dysfunction and deformation, and onset of energy-consuming autophagy which decreases the cellular ATP level...
October 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29035728/engineering-pediococcus-acidilactici-with-xylose-assimilation-pathway-for-high-titer-cellulosic-l-lactic-acid-fermentation
#4
Zhongyang Qiu, Qiuqiang Gao, Jie Bao
Xylose-assimilating pathways were constructed in the parental Pediococcus acidilactici strain and evolutionarily adapted to yield a highly stable co-fermentation strain for l-lactic acid production. The phosphoketolase pathway (PK) was blocked for reduction of acetic acid generation by disrupting phosphoketolase (pkt) gene. The pentose phosphate pathway (PPP) was reconstructed for xylose assimilation by integrating four heterologous genes encoding transketolase (tkt), transaldolase (tal), xylose isomerase (xylA) and xylulokinase (xylB) into the P...
September 21, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/29035400/protein-recognition-by-a-pattern-generating-fluorescent-molecular-probe
#5
Zohar Pode, Ronny Peri-Naor, Joseph M Georgeson, Tal Ilani, Vladimir Kiss, Tamar Unger, Barak Markus, Haim M Barr, Leila Motiei, David Margulies
Fluorescent molecular probes have become valuable tools in protein research; however, the current methods for using these probes are less suitable for analysing specific populations of proteins in their native environment. In this study, we address this gap by developing a unimolecular fluorescent probe that combines the properties of small-molecule-based probes and cross-reactive sensor arrays (the so-called chemical 'noses/tongues'). On the one hand, the probe can detect different proteins by generating unique identification (ID) patterns, akin to cross-reactive arrays...
October 16, 2017: Nature Nanotechnology
https://www.readbyqxmd.com/read/29033007/anthropogenic-factors-influencing-invasive-ascidian-establishment-in-natural-environments
#6
Mey-Tal Gewing, Susanna López-Legentil, Noa Shenkar
Marine environments are constantly impacted by bioinvasions. Invasive ascidians (Chordata, Tunicata) are well-known for their ability to rapidly overgrow any available substrate. While the majority of studies have investigated the factors contributing to the successful establishment of ascidians on artificial substrates, the anthropogenic factors that contribute to such establishment on natural substrates have rarely been investigated. Here, we studied non-indigenous ascidians presence on natural substrate for the first time, using underwater field surveys at eight natural sites along the Israeli Mediterranean coast, in order to provide an analysis of factors assisting their establishment...
October 6, 2017: Marine Environmental Research
https://www.readbyqxmd.com/read/29026078/deciphering-tal-effectors-for-5-methylcytosine-and-5-hydroxymethylcytosine-recognition
#7
Yuan Zhang, Lulu Liu, Shengjie Guo, Jinghui Song, Chenxu Zhu, Zongwei Yue, Wensheng Wei, Chengqi Yi
DNA recognition by transcription activator-like effector (TALE) proteins is mediated by tandem repeats that specify nucleotides through repeat-variable diresidues. These repeat-variable diresidues form direct and sequence-specific contacts to DNA bases; hence, TALE-DNA interaction is sensitive to DNA chemical modifications. Here we conduct a thorough investigation, covering all theoretical repeat-variable diresidue combinations, for their recognition capabilities for 5-methylcytosine and 5-hydroxymethylcytosine, two important epigenetic markers in higher eukaryotes...
October 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29023119/how-does-the-central-atom-substitution-impact-the-properties-of-a-criegee-intermediate-insights-from-multireference-calculations
#8
Tarek Trabelsi, Manoj Kumar, Joseph S Francisco
Complete active space self-consistent field (CASSCF) and multireference configuration interaction (MRCI)-based multireference calculations have been performed to better understand the ground state properties and the photodissociation mechanism of SiH2OO, a silicon analogue of the parent Criegee intermediate, CH2OO. The CASSCF/aug-cc-pV(T+d)Z results suggest that the ground state of SiH2OO is severely multireference in nature. This explains why SiH2OO could not be characterized in recently reported coupled cluster calculations...
October 19, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29020825/the-yield-of-the-prenatal-work-up-in-intrauterine-growth-restriction-and-the-spectrum-of-fetal-abnormalities-detected-postnatally
#9
Rivka Sukenik-Halevy, Adi Katz, Rivka Regev, Ofer Markovitch, Reuven Sharony, Yael Ganor Paz, Tal Biron-Shental
OBJECTIVE: To evaluate the yield of work-up in intrauterine growth restriction (IUGR) pregnancies and their outcomes. MATERIALS AND METHODS: Retrospective data regarding prenatal work-up (serology, genetic testing and imaging), and neonatal outcomes of 198 IUGR pregnancies (estimated fetal weight < 10th percentile) were analyzed. RESULTS: IUGR was isolated in 72. Work-up performed in 158 (80%) cases was positive in 4 (2.5%). No abnormalities were detected in prenatal genetic testing...
October 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29016843/mesenchymal-stem-cells-as-natural-bio-factories-for-exosomes-carrying-mir-124a-in-the-treatment-of-gliomas
#10
Frederick M Lang, Anwar Hossain, Joy Gumin, Eric N Momin, Yuzaburo Shimizu, Dan Ledbetter, Tal Shahar, Shinji Yamashita, Brittany Parker-Kerrigan, Juan Fueyo, Raymond Sawaya, Frederick F Lang
Background: MicroRNAs (miRs) are promising new therapeutics for glioblastoma. However, which miRs are most effective against glioblastomas and how these miRs should be delivered are major unanswered problems. Methods: To identify potent anti-glioma miRs, we selected eight miRs based on a literature search and screened them against a panel of glioma stem cell lines (GSCs), representing all TCGA-defined glioblastoma subtypes. To address delivery, we tested the hypothesis that ex vivo-cultured bone marrow-derived mesenchymal stem cells (MSCs) can package miRs into exosomes and that these engineered exosomes can systemically deliver antiglioma miRs to glioblastomas...
August 14, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28993468/a-ragulator-borc-interaction-controls-lysosome-positioning-in-response-to-amino-acid-availability
#11
Jing Pu, Tal Keren-Kaplan, Juan S Bonifacino
Lysosomes play key roles in the cellular response to amino acid availability. Depletion of amino acids from the medium turns off a signaling pathway involving the Ragulator complex and the Rag guanosine triphosphatases (GTPases), causing release of the inactive mammalian target of rapamycin complex 1 (mTORC1) serine/threonine kinase from the lysosomal membrane. Decreased phosphorylation of mTORC1 substrates inhibits protein synthesis while activating autophagy. Amino acid depletion also causes clustering of lysosomes in the juxtanuclear area of the cell, but the mechanisms responsible for this phenomenon are poorly understood...
October 9, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28992797/hydroxychloroquine-desensitization-an-effective-method-to-overcome-hypersensitivity-a-multicenter-experience
#12
Y Tal, R Maoz Segal, P Langevitz, S Kivity, Z Darnizki, N Agmon-Levin
Hydroxychloroquine (HCQ) is widely used to treat autoimmune/rheumatic diseases such as systemic lupus erythematosus (SLE). The immune modulation effects of HCQ have been highlighted as beneficial for maintaining remission of SLE as well as ameliorating skin, joint and other manifestations. Moreover, HCQ exposure for prolonged periods as well as during pregnancy is considered safe, therefore it is recommended for the vast majority of SLE patients. Although HCQ therapy requires follow-up by a specialist, its most common side effects are mild gastrointestinal disturbances, sensitivity to light and skin rashes...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28991610/intraocular-lens-power-calculation-for-eyes-with-high-and-low-average-keratometry-readings-comparison-between-various-formulas
#13
Olga Reitblat, Adi Levy, Guy Kleinmann, Tsahi T Lerman, Ehud I Assia
PURPOSE: To compare the accuracy of intraocular lens power prediction for eyes with average keratometry (K) readings greater than 46.00 diopters (D) and lower than 42.00 D. SETTING: Ein-Tal Eye Center, Tel-Aviv, Israel. DESIGN: Retrospective case series. METHODS: Eyes having cataract extraction surgery with steep and flat preoperative corneal curvatures determined with the Lenstar-LS900 device were enrolled. Refractive prediction errors for the Barrett Universal II, Haigis, Hill-RBF, Hoffer-Q, Holladay 1, Holladay 2, Olsen, and SRK/T formulas were compared...
September 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28991291/s%C3%A3-ndrome-antifosfol%C3%A3-pidos-catastr%C3%A3-fico-reporte-de-caso-y-revisi%C3%A3-n-bibliogr%C3%A3-fica
#14
Luis Del Carpio Orantes, Chantall Citlally Anaya Martínez, Elías Bonilla Casas
other: Se reporta un caso de una condición clínica sumamente rara, la cual cursa con falla multiorgánica aguda posterior a una tormenta trombótica relacionada con anticuerpos antifosfolípidos, el denominado síndrome antifosfolípidos (SAF) catastrófico, el cual comenzó como un cuadro recurrente de trombosis mesentérica, con antecedentes de insuficiencia venosa y úlceras distales probablemente asociadas a un SAF no identificado, ameritando manejo en terapia intensiva y la consulta por el experto mundial Dr...
2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28988786/omalizumab-for-severe-chronic-spontaneous-urticaria-real-life-experiences-of-280-patients
#15
Zahava Vadasz, Yuval Tal, Menachem Rotem, Vered Shichter-Confino, Keren Mahlab-Guri, Yael Graif, Aharon Kessel, Nancy Agmon-Levin, Ramit Maoz-Segal, Shmuel Kivity, Shira Benor, Idit Lachover-Roth, Yuri Zeldin, Migel Stein, Ori Toker, Gamal Hassoun, Shira Bezalel-Rosenberg, Elias Toubi, Ilan Asher, Zev Sthoeger
No abstract text is available yet for this article.
October 4, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28983476/from-population-databases-to-research-and-informed-health-decisions-and-policy
#16
Yossy Machluf, Orna Tal, Amir Navon, Yoram Chaiter
BACKGROUND: In the era of big data, the medical community is inspired to maximize the utilization and processing of the rapidly expanding medical datasets for clinical-related and policy-driven research. This requires a medical database that can be aggregated, interpreted, and integrated at both the individual and population levels. Policymakers seek data as a lever for wise, evidence-based decision-making and information-driven policy. Yet, bridging the gap between data collection, research, and policymaking, is a major challenge...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28977752/concentrated-aqueous-sodium-tosylate-as-green-medium-for-alkene-oxidation-and-nucleophilic-substitution-reactions
#17
Tal Sela, Xiaoxi Lin, Arkadi Vigalok
Hydrotropic solution of highly-concentrated sodium tosylate (NaOTs) can be used as a recyclable medium for the environmentally-benign oxidation of conjugated alkenes with H2O2. Both un-catalyzed and metal-catalyzed reactions provided the corresponding oxidation products in higher yields than in pure water or many common organic solvents.
October 4, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28976808/ca-2-calmodulin-and-pip2-interactions-at-the-proximal-c-terminus-of-kv7-channels
#18
William S Tobelaim, Meidan Dvir, Guy Lebel, Meng Cui, Tal Buki, Asher Peretz, Milit Marom, Yoni Haitin, Diomedes E Logothetis, Joel A Hirsch, Bernard Attali
In the heart, co-assembly of Kv7.1 with KCNE1 produces the slow IKS potassium current, which repolarizes the cardiac action potential and mutations in human Kv7.1 and KCNE1 genes cause cardiac arrhythmias. The proximal Kv7.1 C-terminus binds calmodulin (CaM) and phosphatidylinositol-4,5-bisphosphate (PIP2) and recently we revealed the competition of PIP2 with the calcified CaM N-lobe to a previously unidentified site in Kv7.1 helix B, also known to harbor a LQT mutation. Data indicated that PIP2 and Ca(2+)-CaM perform the same function on IKS channel gating to stabilize the channel open state...
October 4, 2017: Channels
https://www.readbyqxmd.com/read/28973513/non-random-length-distribution-of-individual-telomeres-in-immunodeficiency-centromeric-instability-and-facial-anomalies-syndrome-type-i
#19
Shira Sagie, Omer Edni, Joseph Weinberg, Shir Toubiana, Tal Kozlovski, Tzviel Frostig, Nirit Katzin, Irit Bar-Am, Sara Selig
Mutations in the de novo DNA methyltransferase DNMT3B lead to Immunodeficiency, Centromeric Instability and Facial anomalies (ICF) syndrome, type I. This syndrome is characterized, among other hypomethylated genomic loci, by severe subtelomeric hypomethylation that is associated with abnormally short telomere length. While it was demonstrated that the mean telomere length is significantly shorter in ICF type I cells, it is unknown whether all telomeres are equally vulnerable to shortening. To study this question we determined by combined telomere-FISH and spectral karyotyping the relative length of each individual telomere in lymphoblastoid cell lines (LCLs) generated from multiple ICF syndrome patients and control individuals...
August 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28972698/prognostic-value-of-urinary-pca3-during-active-surveillance-of-low-risk-prostate-cancer-in-patients-receiving-5%C3%AE-reductase-inhibitors
#20
Vincent Fradet, Paul Toren, Molière Nguile-Makao, Michele Lodde, Jérome Lévesque, Caroline Léger, André Caron, Alain Bergeron, Tal Ben-Zvi, Louis Lacombe, Frédéric Pouliot, Rabi Tiguert, Thierry Dujardin, Yves Fradet
OBJECTIVES: To determine the clinical performance of the urinary PCA3 test to predict the risk of Gleason grade re-classification among men receiving a 5α-reductase inhibitor during active surveillance for prostate cancer. PATIENTS AND METHODS: Patients with low-risk prostate cancer were enrolled in a prospective Phase II study of active surveillance complemented with prescription of a 5ARI. Repeat biopsy was performed within the first year and annually according to physician and patient preference...
October 3, 2017: BJU International
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