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https://www.readbyqxmd.com/read/28317099/mutations-in-ergic1-cause-arthrogryposis-multiplex-congenita-neuropathic-type
#1
Eyal Reinstein, Valerie Dersinover, Rona Lotan, Meital Gal-Tanhami, Inbal Bulokin Nachman, Eran Eyal, Jaber Lutfi, Nurit Magal, Mordechai Shohat
Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than one part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with AMC neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter...
March 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28263186/loss-of-ddrgk1-modulates-sox9-ubiquitination-in-spondyloepimetaphyseal-dysplasia
#2
Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, David S Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C Swindell, Daniel H Cohn, Richard A Gibbs, Philippe M Campeau, Mordechai Shohat, Brendan H Lee
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development and led to decreased levels of the chondrogenic master transcription factor sox9 and its downstream target, col2a1...
April 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28238703/competition-for-light-in-forest-population-dynamics-from-computer-simulator-to-mathematical-model
#3
Pierre Magal, Zhengyang Zhang
In this article we build a mathematical model for forest growth and we compare this model with a computer forest simulator named SORTIE. The main ingredient taken into account in both models is the competition for light between trees. The parameters of the mathematical model are estimated by using SORTIE model, when the parameter values of SORTIE model correspond to the ones previously evaluated for the Great Mountain Forest in USA. We see that the best fit of the parameters of the mathematical model is obtained when the competition for light influences only the growth rate of trees...
February 24, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28182414/the-planar-cyclooctatetraene-bridge-in-bis-metallic-macrocycles-isolating-or-conjugating
#4
Susovan Bhowmik, Monica Kosa, Amir Mizrahi, Natalia Fridman, Magal Saphier, Amnon Stanger, Zeev Gross
A minor modification of the reported procedure for the synthesis of a corrole dimer that is fused by the cyclooctatetraene (COT) unit, (H3tpfc)2COT, allowed for its isolation in 18% yield. Of the two redox isomers that this interesting macrocycle does form, the current focus is on the reduced form, in which each subunit resembles that of monomeric corroles with a trianionic N4 coordination core. The corresponding bis-gallium(III) complex was prepared as an entry into the potentially rich coordination chemistry of (H3tpfc)2COT...
February 20, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/27869390/-factors-related-to-treatment-adherence-in-patients-with-tuberculosis-in-pereira-colombia-2012-2013
#5
Magally Dueñes, Dora Cardona
INTRODUCTION: According to the World Health Organization, the adherence to the tuberculosis treatment is the extent to which a patient's medication taking coincides with the prescribed treatment. The sum of cured patients and those who have completed treatment (directly observed therapy strategy, DOTS) are pragmatic indicators of the adherence. The patients who do not complete treatment correspond to non-adherents. Objective: To determine the relationship between anti-tuberculosis treatment adherence and socio-demographic, economic, clinical, and drug-related objective and subjective factors in patients over 18 years of age...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27622809/prevalence-of-human-t-cell-lymphotropic-virus-i-and-ii-in-colombian-blood-donors-2001-2014-implications-for-transfusion-safety
#6
María Isabel Bermúdez-Forero, Maritza Berrío-Pérez, Andrea Magally Herrera-Hernández, Magda Juliana Rodríguez-Rodríguez, Sandra García-Blanco, Guillermo Orjuela-Falla, Mauricio Beltrán
INTRODUCTION: The human T-cell lymphotropic virus (HTLV) 1 and 2 cause various clinical disorders associated with degenerative diseases. Blood transfusion is a primary mechanism of transmission that is associated with the use of cellular components such as red blood cells.  OBJECTIVE: To describe the epidemiology of HTLV 1 and 2 in blood donors in Colombia from 2001-2014.  MATERIALS AND METHODS: A retrospective analysis was performed using screening, reactivity and positivity for HTLV 1 and 2 data collected from 2001 to 2014 by Colombian blood banks and consolidated by the Instituto Nacional de Salud...
May 4, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27359616/sex-based-differences-of-six-repeated-wingate-anaerobic-cycle-test-performances-361-board-198-june-1-11-00-am-12-30-pm
#7
Nicole Liette, Kathleen S Thomas, Shannon K Crowley, Abigail J Leonard, Meir Magal
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27359392/fatigue-and-sex-based-effects-on-postural-motion-in-ncaa-division-iii-soccer-athletes-137-june-1-11-15-am-11-30-am
#8
Kathleen S Thomas, Nicole Liette, Shannon K Crowley, Abigail J Leonard, Meir Magal
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27312951/hif-1%C3%AE-and-ppar%C3%AE-during-physiological-cardiac-hypertrophy-induced-by-pregnancy-transcriptional-activities-and-effects-on-target-genes
#9
José G Soñanez-Organis, José A Godoy-Lugo, Magally L E Hernández-Palomares, Daniel Rodríguez-Martínez, Jesús A Rosas-Rodríguez, Guadalupe González-Ochoa, Adolfo Virgen-Ortiz, Rudy M Ortiz
Hypoxia inducible factor 1-α (HIF-1α) and peroxisome proliferator-activated receptor γ (PPARγ) are transcription factors that activate genes involved in cellular metabolism. Physiological cardiac hypertrophy induced by pregnancy initiates compensatory changes in metabolism. However, the contributions of HIF-1α and PPARγ to this physiological status and to its reversible, metabolic process (postpartum) in the heart are not well-defined. Therefore, the aim of the present study was to evaluate the transcriptional activities of HIF-1α and PPARγ in the left ventricle of rats before, during, and after pregnancy...
October 15, 2016: Gene
https://www.readbyqxmd.com/read/26894317/anxiety-sensitivity-among-first-time-fathers-moderates-the-relationship-between-exposure-to-stress-during-birth-and-posttraumatic-stress-symptoms
#10
Gadi Zerach, Ortal Magal
This longitudinal study examined posttraumatic stress disorder (PTSD) and anxiety symptoms among men attending the birth of their first offspring. Furthermore, we examined the moderating role of anxiety sensitivity (AS) and intolerance of uncertainty in the association between exposure to stress during birth and PTSD and anxiety symptoms. Participants were Israeli men (n = 171) who were assessed with self-report questionnaires during the third trimester of pregnancy (T1) and approximately a month following birth (T2)...
May 2016: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/26822128/segmental-basal-cell-naevus-syndrome-caused-by-an-activating-mutation-in-smoothened
#11
Z Khamaysi, R Bochner, M Indelman, L Magal, E Avitan-Hersh, O Sarig, E Sprecher, R Bergman
Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS. Histopathologically, there were different types of BCC...
July 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/26544533/constitutional-mismatch-repair-deficiency-in-israel-high-proportion-of-founder-mutations-in-mmr-genes-and-consanguinity
#12
Hagit N Baris, Inbal Barnes-Kedar, Helen Toledano, Marisa Halpern, Dov Hershkovitz, Alexander Lossos, Israela Lerer, Tamar Peretz, Revital Kariv, Shlomi Cohen, Elizabeth E Half, Nurit Magal, Valerie Drasinover, Katharina Wimmer, Yael Goldberg, Dani Bercovich, Zohar Levi
BACKGROUND: Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood. Offspring of couples where both spouses have LS have a 1:4 risk of inheriting biallelic MMR gene mutations. These cause constitutional MMR deficiency (CMMRD) syndrome, a severe recessively inherited cancer syndrome with a broad tumor spectrum including mainly hematological malignancies, brain tumors, and colon cancer in childhood and adolescence...
March 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/26473759/updating-acsm-s-recommendations-for-exercise-preparticipation-health-screening
#13
Deborah Riebe, Barry A Franklin, Paul D Thompson, Carol Ewing Garber, Geoffrey P Whitfield, Meir Magal, Linda S Pescatello
The purpose of the American College of Sports Medicine's (ACSM) exercise preparticipation health screening process is to identify individuals who may be at elevated risk for exercise-related sudden cardiac death and/or acute myocardial infarction. Recent studies have suggested that using the current ACSM exercise preparticipation health screening guidelines can result in excessive physician referrals, possibly creating a barrier to exercise participation. In addition, there is considerable evidence that exercise is safe for most people and has many associated health and fitness benefits; exercise-related cardiovascular events are often preceded by warning signs/symptoms; and the cardiovascular risks associated with exercise lessen as individuals become more physically active/fit...
November 2015: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/26427141/standardization-of-a-protocol-for-obtaining-platelet-rich-plasma-from-blood-donors-a-tool-for-tissue-regeneration-procedures
#14
Lina Andrea Gómez, Magally Escobar, Oscar Peñuela
BACKGROUND: To develop a protocol for obtaining autologous platelet rich plasma in healthy individuals and to determine the concentration of five major growth factors before platelet activation. This protocol could be integrated into the guidelines of good clinical practice and research in regenerative medicine. METHODS: Platelet rich plasma was isolated by centrifugation from 38 healthy men and 42 women ranging from 18 to 59 years old. The platelet count and quantification of growth factors were analyzed in eighty samples, stratified for age and gender of the donor...
2015: Clinical Laboratory
https://www.readbyqxmd.com/read/26219579/molecular-characterization-and-organ-specific-expression-of-the-gene-that-encodes-betaine-aldehyde-dehydrogenase-from-the-white-shrimp-litopenaeus-vannamei-in-response-to-osmotic-stress
#15
María F Delgado-Gaytán, Magally L E Hernández-Palomares, José G Soñanez-Organis, Adriana Muhlia-Almazán, Arturo Sánchez-Paz, Norma A Stephens-Camacho, Elisa M Valenzuela-Soto, Jesús A Rosas-Rodríguez
Crustaceans overcome osmotic disturbances by regulating their intracellular concentration of ions and osmolytes. Glycine betaine (GB), an osmolyte accumulated in response to hyperosmotic stress, is synthesized by betaine aldehyde dehydrogenase (BADH EC 1.2.1.8) through the oxidation of betaine aldehyde. A partial BADH cDNA sequence from the white shrimp Litopenaeus vannamei was obtained and its organ-specific expression during osmotic stress (low and high salinity) was evaluated. The partial BADH cDNA sequence (LvBADH) is 1103bp long and encodes an open reading frame for 217 protein residues...
November 2015: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/26196230/persistent-circulative-transmission-of-begomoviruses-by-whitefly-vectors
#16
REVIEW
Ran Rosen, Surapathrudu Kanakala, Adi Kliot, Britto Cathrin Pakkianathan, Basheer Abu Farich, Nadine Santana-Magal, Meytar Elimelech, Svetlana Kontsedalov, Galina Lebedev, Michelle Cilia, Murad Ghanim
Begomoviruses comprise an emerging and economically important group of plant viruses exclusively transmitted by the sweetpotato whitefly Bemisia tabaci in many regions of the world. The past twenty years have witnessed significant progress in studying the molecular interactions between members of this virus group and B. tabaci. Mechanisms and proteins encoded by the insect vector and its bacterial symbionts, which have been shown to be important for virus transmission, have been identified and thoroughly studied...
December 2015: Current Opinion in Virology
https://www.readbyqxmd.com/read/26135004/effect-of-medium-components-and-culture-conditions-in-bacillus-subtilis-ea-cb0575-spore-production
#17
Luisa F Posada-Uribe, Magally Romero-Tabarez, Valeska Villegas-Escobar
Bacillus subtilis spores have important biotechnological applications; however, achieving both, high spore cell densities and sporulation efficiencies in fermentation, is poorly reported. In this study, medium components and culture conditions were optimized with different statistical methods to increase spore production of the plant growth promoting rhizobacteria B. subtilis EA-CB0575. Key medium components were determined with Plackett-Burman (PB) design, and the optimum concentration levels of two components (glucose, MgSO4·7H2O) were optimized with a full factorial and central composite design, achieving 1...
October 2015: Bioprocess and Biosystems Engineering
https://www.readbyqxmd.com/read/25974338/special-issue-dedicated-to-the-70th-birthday-of-glenn-f-webb-preface
#18
Peter Hinow, Pierre Magal, Shigui Ruan
This special issue is dedicated to the 70th birthday of Glenn F. Webb. The topics of the 12 articles appearing in this special issue include evolutionary dynamics of population growth, spatio-temporal dynamics in reaction-diffusion biological models, transmission dynamics of infectious diseases, modeling of antibiotic-resistant bacteria in hospitals, analysis of Prion models, age-structured models in ecology and epidemiology, modeling of immune response to infections, modeling of cancer growth, etc. These topics partially represent the broad areas of Glenn's research interest...
August 2015: Mathematical Biosciences and Engineering: MBE
https://www.readbyqxmd.com/read/25792360/homozygous-med25-mutation-implicated-in-eye-intellectual-disability-syndrome
#19
Lina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, Shay Tzur, Irina Lagovsky, Idit Maya, Metsada Pasmanik-Chor, Adva Yeheskel, Osnat Konen, Naama Orenstein, Monika Weisz Hubshman, Valerie Drasinover, Nurit Magal, Gaby Peretz Amit, Yael Zalzstein, Avraham Zeharia, Mordechai Shohat, Rachel Straussberg, Didier Monté, Mali Salmon-Divon, Doron M Behar
Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village...
June 2015: Human Genetics
https://www.readbyqxmd.com/read/25729285/pre-practice-hydration-status-and-the-effects-of-hydration-regimen-on-collegiate-division-iii-male-athletes
#20
Meir Magal, Rebekah J Cain, Josh C Long, Kathleen S Thomas
Pre-practice euhydration is key in the prevention of heat related injuries. The pre-practice hydration status of male National Collegiate Athletic Association (NCAA)-Division III athletes and the effects of a direct hydration regimen have yet to be investigated therefore; the aim of the study was 1) to analyze the pre-practice hydration status of current NCAA-DIII male athletes and 2) assess the impact of a directed intervention on pre-practice hydration status. The study was divided into baseline, pre and post intervention phases...
March 2015: Journal of Sports Science & Medicine
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