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https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#1
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917238/qualitative-study-of-eating-habits-in-bruneian-primary-school-children
#2
Tajidah Talip, Rajiah Serudin, Salmah Noor, Nik Tuah
BACKGROUND AND OBJECTIVES: Childhood obesity is a serious public health issue globally and poor eating habits are an important contributing factor. This study aimed to explore the perceptions, practices and attitudes towards healthy eating in Bruneian primary school children. METHODS AND STUDY DESIGN: A qualitative study was conducted among 40 subjects involving 18 children (aged 9-10 years old), 12 parents and 10 teachers, who were recruited from two primary schools using convenience sampling...
2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28913492/incorporating-airway-examination-photography-into-the-electronic-record
#3
Joshua W Sappenfield, Nik Gravenstein, Judith M Wishin, Chukwudi Obiora Chiaghana, David Smyth, Brenda G Fahy, Terrie Vasilopoulos, Laurie Davies, F Kayser Enneking
BACKGROUND: Photography of the airway has been used in research to validate preoperative airway assessment and the likelihood of identifying the difficult-to-mask ventilate and/or intubate patient. Up till now, no study has demonstrated the perceived utility of incorporation of airway photographs into the anesthesia preassessment. METHODS: The University of Florida Health Presurgical Clinic routinely incorporates three photographs of all adult patients during their preanesthesia visit...
April 2017: Rom J Anaesth Intensive Care
https://www.readbyqxmd.com/read/28912133/use-of-crispr-modified-human-stem-cell-organoids-to-study-the-origin-of-mutational-signatures-in-cancer
#4
Jarno Drost, Ruben van Boxtel, Francis Blokzijl, Tomohiro Mizutani, Nobuo Sasaki, Valentina Sasselli, Joep de Ligt, Sam Behjati, Judith E Grolleman, Tom van Wezel, Serena Nik-Zainal, Roland P Kuiper, Edwin Cuppen, Hans Clevers
Mutational processes underlie cancer initiation and progression. Signatures of these processes in cancer genomes may explain cancer etiology, and hold diagnostic and prognostic value. Here, we develop a strategy that can be used to explore the origin of cancer-associated mutational signatures. We used CRISPR/Cas9 technology to delete key DNA repair genes in human colon organoids, followed by delayed sub-cloning and whole-genome sequencing. We found that mutation accumulation in organoids deficient in the mismatch repair gene MLH1 is driven by replication errors and accurately models the mutation profiles observed in mismatch repair-deficient colorectal cancers...
September 14, 2017: Science
https://www.readbyqxmd.com/read/28911055/pyrenoid-loss-in-chlamydomonas-reinhardtii-causes-limitations-in-co2-supply-but-not-thylakoid-operating-efficiency
#5
Oliver D Caspari, Moritz T Meyer, Dimitri Tolleter, Tyler M Wittkopp, Nik J Cunniffe, Tracy Lawson, Arthur R Grossman, Howard Griffiths
The pyrenoid of the unicellular green alga Chlamydomonas reinhardtii is a microcompartment situated in the centre of the cup-shaped chloroplast, containing up to 90% of cellular Rubisco. Traversed by a network of dense, knotted thylakoid tubules, the pyrenoid has been proposed to influence thylakoid biogenesis and ultrastructure. Mutants that are unable to assemble a pyrenoid matrix, due to expressing a vascular plant version of the Rubisco small subunit, exhibit severe growth and photosynthetic defects and have an ineffective carbon-concentrating mechanism (CCM)...
June 1, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28905353/platelet-rna-in-cancer-diagnostics
#6
Lee-Ann Tjon-Kon-Fat, Nik Sol, Thomas Wurdinger, R Jonas A Nilsson
No abstract text is available yet for this article.
September 13, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/28904750/phenology-of-brown-marmorated-stink-bug-described-using-female-reproductive-development
#7
Anne L Nielsen, Shelby Fleischer, George C Hamilton, Tori Hancock, Gregorz Krawczyk, Jana C Lee, Emily Ogburn, John M Pote, Amy Raudenbush, Ann Rucker, Michael Saunders, Victoria P Skillman, Jeanne Sullivan, Jody Timer, James Walgenbach, Nik G Wiman, Tracy C Leskey
Temperature-based degree-day models describe insect seasonality and to predict key phenological events. We expand on the use of a temperature-based process defining timing of reproduction through the incorporation of female reproductive physiology for the invasive pentatomid species Halyomorpha halys, the brown marmorated stink bug. A five-stage ranking system based on ovary development was able to distinguish between the reproductive statuses of field-collected females. Application of this ranking method described aspects of H...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28904067/whole-genome-sequencing-reveals-breast-cancers-with-mismatch-repair-deficiency
#8
Helen Davies, Sandro Morganella, Colin A Purdie, Se Jin Jang, Elin Borgen, Hege Russnes, Dominik Glodzik, Xueqing Zou, Alain Viari, Andrea L Richardson, Anne-Lise Børresen-Dale, Alastair Thompson, Jorunn E Eyfjord, Gu Kong, Michael R Stratton, Serena Nik-Zainal
Mismatch repair (MMR)-deficient cancers have been discovered to be highly responsive to immune therapies such as PD-1 checkpoint blockade, making their definition in patients, where they may be relatively rare, paramount for treatment decisions. In this study, we utilized patterns of mutagenesis known as mutational signatures, which are imprints of the mutagenic processes associated with MMR deficiency, to identify MMR-deficient breast tumors from a whole-genome sequencing dataset comprising a cohort of 640 patients...
September 13, 2017: Cancer Research
https://www.readbyqxmd.com/read/28891270/genetic-diversity-and-pathogenicity-of-fusarium-species-associated-with-fruit-rot-disease-in-banana-across-peninsular-malaysia
#9
Nur Baiti Abd Murad, Nik Mohd Izham Nik Mohamed, Shamarina Shohaimi, Nur Ain Izzati Mohd Zainudin
AIMS: The aims of this study are to identify the Fusarium isolates based on translation elongation factor (tef) 1α sequence, to determine the genetic diversity among isolates and species using selected microsatellite markers, and to examine the pathogenicity of Fusarium isolates causing fruit rot disease of banana. METHODS AND RESULTS: One-hundred thirteen microfungi isolates were obtained from fruit rot infected banana in Peninsular Malaysia. However, this study was focused on the dominant number of the discovered microfungi that belongs to the genus Fusarium...
September 11, 2017: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/28890766/some-biological-aspects-of-bigeye-scad-selar-crumenophthalmus-from-bangaa-faru-maldives
#10
Nik Fadzly, Shaza Adeeb, Amir Shah Ruddin Md Sah
In this paper, we studied some biological aspects of big eye scad (Selar crumenophthalmus) from Maldives. The fish sample was collected from the local fish market at Bangaa Faru, Male, Maldives. The length of the samples were ranged from 7.7 cm to 24.5 cm (mean value = 16.85 ± 2.82 cm) in fork length. Body weight ranged between 8 g to 255.6 g (mean value = 87.76 ± 40.41 g). The exponent values (b slope) of lengthweight relationship of S. crumenophthalmus are 2.9838 for females and 2.7687 for males; indicating negative allometric growth pattern for both sexes...
July 2017: Tropical Life Sciences Research
https://www.readbyqxmd.com/read/28890759/general-perceptions-and-awareness-level-among-local-residents-in-penang-island-toward-bats-conservation-efforts
#11
Nur Juliani Shafie, Shahrul Anuar Mohd Sah, Aini Hasanah Abdul Mutalib, Nik Fadzly
The population of bats has declined from year to year caused by human activities such as logging and hunting activities. Since the human factor is linked to the issues of population decline in many animal species, a community-based conservation strategy that involved local communities is needed. We conducted face-to-face surveys among residents in Penang Island to assess knowledge and awareness level toward bats conservation efforts. We collected demographic values such as age, gender, level of education, length of residency as well as their monthly income, since different group in these variable might have different perception...
July 2017: Tropical Life Sciences Research
https://www.readbyqxmd.com/read/28886750/evidence-based-gene-models-for-structural-and-functional-annotations-of-the-oil-palm-genome
#12
Kuang-Lim Chan, Tatiana V Tatarinova, Rozana Rosli, Nadzirah Amiruddin, Norazah Azizi, Mohd Amin Ab Halim, Nik Shazana Nik Mohd Sanusi, Nagappan Jayanthi, Petr Ponomarenko, Martin Triska, Victor Solovyev, Mohd Firdaus-Raih, Ravigadevi Sambanthamurthi, Denis Murphy, Eng-Ti Leslie Low
BACKGROUND: Oil palm is an important source of edible oil. The importance of the crop, as well as its long breeding cycle (10-12 years) has led to the sequencing of its genome in 2013 to pave the way for genomics-guided breeding. Nevertheless, the first set of gene predictions, although useful, had many fragmented genes. Classification and characterization of genes associated with traits of interest, such as those for fatty acid biosynthesis and disease resistance, were also limited...
September 8, 2017: Biology Direct
https://www.readbyqxmd.com/read/28881728/the-mtor-inhibitor-everolimus-in-combination-with-azacitidine-in-patients-with-relapsed-refractory-acute-myeloid-leukemia-a-phase-ib-ii-study
#13
Peter Tan, Ing Soo Tiong, Shaun Fleming, Giovanna Pomilio, Nik Cummings, Mark Droogleever, Julie McManus, Anthony Schwarer, John Catalano, Sushrut Patil, Sharon Avery, Andrew Spencer, Andrew Wei
Therapeutic options are limited in relapsed/refractory acute myeloid leukemia (AML). We evaluated the maximum tolerated dose (MTD) and preliminary efficacy of mammalian target of rapamycin (mTOR) inhibitor, everolimus (days 5-21) in combination with azacitidine 75 mg/m(2) subcutaneously (days 1-5 and 8-9 every 28 days) in 40 patients with relapsed (n = 27), primary refractory (n = 11) or elderly patients unfit for intensive chemotherapy (n = 2). MTD was not reached following everolimus dose escalation (2.5, 5 or 10 mg; n = 19) to the 10 mg dose level which was expanded (n = 21)...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28873048/gene-ontology-based-analysis-of-zebrafish-omics-data-using-the-web-tool-comparative-gene-ontology
#14
Esmaeil Ebrahimie, Mario Fruzangohar, Seyyed Hani Moussavi Nik, Morgan Newman
Gene Ontology (GO) analysis is a powerful tool in systems biology, which uses a defined nomenclature to annotate genes/proteins within three categories: "Molecular Function," "Biological Process," and "Cellular Component." GO analysis can assist in revealing functional mechanisms underlying observed patterns in transcriptomic, genomic, and proteomic data. The already extensive and increasing use of zebrafish for modeling genetic and other diseases highlights the need to develop a GO analytical tool for this organism...
September 5, 2017: Zebrafish
https://www.readbyqxmd.com/read/28868128/design-of-peptides-interfering-with-iron-dependent-regulator-ider-and-evaluation-of-mycobacterium-tuberculosis-growth-inhibition
#15
Himen Salimizand, Saeid Amel Jamehdar, Leila Babaei Nik, Hamid Sadeghian
OBJECTIVES: Tuberculosis (TB), a disease caused by Mycobacterium tuberculosis (Mtb), stayed a global health thread with high mortality rate. Since TB has a long-term treatment, it leads high risk of drug resistant development, and there is an urgent to find new drugs. The aim of this study was designing new inhibitors for a new drug target, iron dependent regulator, IdeR. MATERIALS AND METHODS: Based on the interaction most populated amino acids of IdeR to the related gene operators, 50 short peptides were modeled...
June 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28865898/presence-of-a-predator-image-in-potential-breeding-sites-and-oviposition-responses-of-a-dengue-vector
#16
Hamady Dieng, Tomomitsu Satho, Nur Farrahana Binti Suradi, Fatimah Abang, Nur Ezzati Aliasan, Hafijah Hakim, Fumio Miake, Wan Fatma Zuharah, Nur Faeza A Kassim, Abdul Hafiz A Majid, Nik Fadzly, Ronald E Morales Vargas, Noppawan P Morales, Gabriel Tonga Noweg
In dengue vector control, attempts to minimize or replace the use of pesticides have mostly involved use of predators, but success has been severely impeded by difficulties associated with financial and environmental costs, predator mass production, and persistence in target habitats. Visual deterrents have been used successfully to control animal pests, in some cases in an effort to replace pesticide use. Despite evidence that visual signals are crucial in site choice for egg deposition by dengue vectors, and that female mosquitoes respond to artificial predation, the role of predator intimidation as it affects the oviposition behavior of dengue vectors remains largely unexplored...
August 30, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28852110/global-invasion-network-of-the-brown-marmorated-stink-bug-halyomorpha-halys
#17
Rafael E Valentin, Anne L Nielsen, Nik G Wiman, Doo-Hyung Lee, Dina M Fonseca
Human mediated transportation into novel habitats is a prerequisite for the establishment of non-native species that become invasive, so knowledge of common sources may allow prevention. The brown marmorated stink bug (BMSB, Halyomorpha halys) is an East Asian species now established across North America and Europe, that in the Eastern United States of America (US) and Italy is causing significant economic losses to agriculture. After US populations were shown to originate from Northern China, others have tried to source BMSB populations now in Canada, Switzerland, Italy, France, Greece, and Hungary...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28843699/differential-dose-absorptions-for-various-biological-tissue-equivalent-materials-using-gafchromic-xr-qa2-film-in-diagnostic-radiology
#18
A Ahmed Alsadig, S Abbas, S Kandaiya, N A R Nik Noor Ashikin, M A Qaeed
Phantoms are devices that simulate human tissues including soft tissues, lungs, and bones in medical and health physics. The purpose of this work was to investigate the differential dose absorption in several commercially available low-cost materials as substitutes to human tissues using Gafchromic XR-QA2 film. The measurement of absorbed dose by different materials of various densities was made using the film to establish the relationship between the absorbed dose and the material density. Materials investigated included soft board materials, Perspex, chicken bone, Jeltrate, chalk, cow bone, marble, and aluminum, which have varying densities from 0...
August 18, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28841358/the-dual-defensive-strategy-of-amorphophallus-throughout-its-ontogeny
#19
Kunpeng Liu, Nik Fadzly, Asyraf Mansor, Rahmad Zakaria, Nadine Ruppert, Chow Yang Lee
Amorphophallus bufo is a rarely studied plant in Malaysian tropical rainforests. We measured the spectral reflectance of different developmental stages of A. bufo (seedlings, juveniles and adults), background soil/ debris and leaves from other neighboring plant species. Results show that the leaves of A. bufo seedling have a similar reflectance curve as the background soil and debris. Adults and juveniles of A. bufo are similar to other neighboring plants' leaf colors. We hypothesize that the cryptic coloration of A...
August 25, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28838994/the-btk-inhibitor-cc-292-shows-activity-in-mantle-cell-lymphoma-and-synergizes-with-lenalidomide-and-nik-inhibitors-depending-on-the-nf-%C3%AE%C2%BAb-mutational-status
#20
Anna Vidal-Crespo, Vanina Rodriguez, Alba Matas-Céspedes, Eriong Lee, Alfredo Rivas-Delgado, Eva Giné, Alba Navarro, Sílvia Beà, Elías Campo, Armando López-Guillermo, Mónica López-Guerra, Gaël Roué, Dolors Colomer, Patricia Pérez-Galán
No abstract text is available yet for this article.
August 24, 2017: Haematologica
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