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https://www.readbyqxmd.com/read/28092925/risk-based-management-of-dental-procedures-in-patients-with-inherited-bleeding-disorders-development-of-a-dental-bleeding-risk-assessment-and-treatment-tool-debratt
#1
L Rasaratnam, P Chowdary, D Pollard, B Subel, C Harrington, U R Darbar
INTRODUCTION: Successful outcomes in dental management for patients with inherited bleeding disorders require close collaboration between haematology teams and dentists. AIM: To review outcomes of an interdisciplinary pathway for dental procedures by assessing adequacy and appropriateness of haemostatic management. METHODS: Two hundred dental procedures in 30 patients with inherited bleeding disorders were included. A Dental Bleeding Risk Assessment and Treatment Tool (DeBRATT) was developed to identify four categories of bleeding risk (no risk, low, moderate and high risk of bleeding) in relation to the severity of the bleeding disorder and the invasiveness of dental procedure...
January 16, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28092822/combination-of-everolimus-with-sorafenib-for-solid-renal-tumors-in-tsc2-mice-is-superior-to-everolimus-alone
#2
Jian Yang, Paulina A Samsel, Kalin Narov, Ashley Jones, Daniel Gallacher, John Gallacher, Julian R Sampson, Ming Hong Shen
Tuberous sclerosis (TSC) is an inherited tumor syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR and development of tumors in multiple organs including the kidneys. The mTOR inhibitors rapamycin and everolimus (rapalogs) have demonstrated clinical efficacy in treating TSC-associated tumors including renal angiomyolipomas. However, tumor responses are usually only partial, and regrowth occurs after drug withdrawal. TSC-associated tumors are highly vascular, and TSC patients with renal angiomyolipomas have elevated levels of circulating vascular endothelial growth factor (VEGF) A and VEGFD...
January 13, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28092557/single-image-super-resolution-using-global-regression-based-on-multiple-local-linear-mappings
#3
Jae-Seok Choi, Munchurl Kim
Super-resolution (SR) has become more vital, because of its capability to generate high-quality ultra-high definition (UHD) high-resolution (HR) images from low-resolution (LR) input images. Conventional SR methods entail high computational complexity, which makes them difficult to be implemented for up-scaling of full-high-definition (FHD) input images into UHD-resolution images. Nevertheless, our previous super-interpolation (SI) method showed a good compromise between PSNR performances and computational complexity...
January 10, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28092344/choriocapillaris-signal-voids-in-maternally-inherited-diabetes-and-deafness-and-in-pseudoxanthoma-elasticum
#4
Richard F Spaide
PURPOSE: To evaluate the pattern of choriocapillaris signal voids in maternally inherited diabetes and deafness and in pseudoxanthoma elasticum in eyes before the development of any geographic atrophy. METHODS: The choriocapillaris under the central macula was imaged with the Optovue RTVue XR Avanti using a 10 μm slab thickness. Automatic local thresholding of the resultant raw data extracted areas of absent flow signal, called signal voids, and these were counted and logarithmically binned...
January 13, 2017: Retina
https://www.readbyqxmd.com/read/28092299/the-complex-phenotype-of-the-athletes-heart-implications-for-pre-participation-screening
#5
Benjamin Brown, Daniel J Green, Matthew Wilson, Jonathan Drezner, Keith George, David Oxborough
Pre-participation screening is vital to exclude inherited cardiac conditions which have the potential to cause sudden cardiac death in seemingly healthy athletes. Recent research has questioned traditional theories of load-induced, dichotomous cardiac adaptation. We therefore considered whether a "one-size-fits-all" approach to screening can account for inter-individual differences brought about by sporting discipline, training volume, ethnicity, body size, sex and age.
January 13, 2017: Exercise and Sport Sciences Reviews
https://www.readbyqxmd.com/read/28092283/inherited-disorders-of-tubular-transport
#6
Michel Baum
No abstract text is available yet for this article.
January 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28092246/-neonatal-hearing-screening-and-early-intervention-a-screening-program-to-evaluate-all-infants-to-identify-the-hearing-impaired
#7
Beatriz González-Jiménez, Efrén Delgado-Mendoza, Rafael Rojano-González, Florencia Valdez-Izaguirre, Pedro Gutiérrez-Aguilar, Félix Guillermo Márquez-Celedonio, Mario González-Santes
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28092170/a-single-molecular-marker-to-distinguish-between-species-of-dioscorea
#8
Natascha Techen, Iffat Parveen, Ikhlas A Khan
Yams are species of the genus Dioscorea (family Dioscoreaceae), which consists of approximately 630 species. The majority of the world production of yams occurs in Africa with 58.8 million t annually, but they are also produced in the Americas and Asia. The saponins in yams have been reported to possess various properties to improve health. The tuber and aerial parts of various species often share morphological similarities, which can cause problems in the proper identification of sample material. For example, the rootstocks and aerial parts of Dioscorea villosa L...
November 3, 2016: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28092090/prevalence-of-mucopolysaccharidosis-types-i-ii-and-vi-in-the-pediatric-and-adult-population-with-carpal-tunnel-syndrome-cts-retrospective-and-prospective-analysis-of-patients-treated-for-cts
#9
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund
BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28090315/chronic-mucocutaneous-candidiasis-disease-associated-with-inborn-errors-of-il-17-immunity
#10
REVIEW
Satoshi Okada, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transcription 1 (STAT1) gain-of-function, autosomal-recessive (AR) deficiencies in interleukin (IL)-12 receptor β1 (IL-12Rβ1), IL-12p40, caspase recruitment domain-containing protein 9 (CARD9) or retinoic acid-related orphan receptor γT (RORγT) or AR autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) develop CMC as a major infectious phenotype that is categorized as Syndromic CMC...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28090285/pulmonary-vascular-and-ventricular-dysfunction-in-the-susceptible-patient-2015-grover-conference-series
#11
REVIEW
Bradley A Maron, Roberto F Machado, Larissa Shimoda
Pulmonary blood vessel structure and tone are maintained by a complex interplay between endogenous vasoactive factors and oxygen-sensing intermediaries. Under physiological conditions, these signaling networks function as an adaptive interface between the pulmonary circulation and environmental or acquired perturbations to preserve oxygenation and maintain systemic delivery of oxygen-rich hemoglobin. Chronic exposure to hypoxia, however, triggers a range of pathogenetic mechanisms that include hypoxia-inducible factor 1α (HIF-1α)-dependent upregulation of the vasoconstrictor peptide endothelin 1 in pulmonary endothelial cells...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28090054/hemoglobin-kansas-as-a-rare-cause-of-cyanosis-a-case-report-and-review-of-the-literature
#12
Yoshikuni Nagayama, Minoru Yoshida, Tadashi Kohyama, Katsuyuki Matsui
Hemoglobin (Hb) Kansas is an inherited Hb variant with a low oxygen affinity that is associated with low oxygen saturation on pulse oximetry (SpO2). It leads to asymptomatic cyanosis. Patients with Hb Kansas do not require any specific treatment and the prognosis is good. In patients with unexplained cyanosis, we should thus consider Hb variants, including Hb Kansas and avoid unnecessary investigations and managements. We herein report the case of 65-year-old woman with Hb Kansas and review five other cases (three lineages) that have been reported in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#13
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28089749/pyroglutamate-5-oxoproline-measured-with-hydrophilic-interaction-chromatography-hilic-tandem-mass-spectrometry-in-acutely-ill-patients
#14
Carel J Pretorius, Michael C Reade, Chris Warnholtz, Brett McWhinney, Meng Mei Phua, Jeffrey Lipman, Jacobus P J Ungerer
BACKGROUND: Pyroglutamic acid (PGA) is challenging to quantify in plasma and is a rare cause of metabolic acidosis that is associated with inherited disorders or acquired after exposure to drugs. METHOD: We developed a hydrophilic interaction liquid chromatography tandem mass spectrometry method with a short analysis time. We established a reference interval and then measured PGA in acutely ill patients to investigate associations with clinical, pharmaceutical and laboratory parameters...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28088982/accumulation-of-dna-damage-in-the-aged-hematopoietic-stem-cell-compartment
#15
REVIEW
Isabel Beerman
Aging is associated with loss of functional potential of multiple tissue systems, and there has been significant interest in understanding how tissue-specific cells contribute to this decline. DNA damage accumulation has been widely associated with aging in differentiated cell types. However, tissue-specific stem cells were once thought to be a geno-protected population, as damage accrued in a stem cell population has the potential to be inherited by differentiated progeny, as well as propagated within the stem cell compartment through self-renewal divisions...
January 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28088765/allo-allo-triploid-sphagnum-%C3%A3-falcatulum-single-individuals-contain-most-of-the-holantarctic-diversity-for-ancestrally-indicative-markers
#16
Eric F Karlin, Peter E Smouse
BACKGROUND AND AIMS: Allopolyploids exhibit both different levels and different patterns of genetic variation than are typical of diploids. However, scant attention has been given to the partitioning of allelic information and diversity in allopolyploids, particularly that among homeologous monoploid components of the hologenome. Sphagnum × falcatulum is a double allopolyploid peat moss that spans a considerable portion of the Holantarctic. With monoploid genomes from three ancestral species, this organism exhibits a complex evolutionary history involving serial inter-subgeneric allopolyploidizations...
January 14, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28088283/quantification-of-plasma-sulfatides-by-mass-spectrometry-utility-for-metachromatic-leukodystrophy
#17
Jennifer T Saville, Nicholas J C Smith, Janice M Fletcher, Maria Fuller
Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and sulfatide elevation in body fluids is useful in the diagnostic setting. Here we used mass spectrometry to quantify fourteen species of sulfatide, in addition to the deacetylated derivative, lyso-sulfatide, using high pressure liquid chromatography-electrospray ionisation-tandem mass spectrometry in both positive and negative ion mode. A single phase extraction of 0...
February 22, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28088028/role-of-small-rnas-in-epigenetic-reprogramming-during-plant-sexual-reproduction
#18
REVIEW
German Martinez, Claudia Köhler
Sexual reproduction, the formation of a new individual from specialized reproductive cells after fertilization, involves the precise orchestration of different developmental and genomic processes. These processes are to a large extent governed by small RNAs (sRNAs) that either belong to the class of micro RNAs (miRNAs) or small-interfering RNAs (siRNAs). The latter are derived from transposable elements (TEs) and involved in genome defense and transgenerational inheritance of heterochromatin identity, ensuring genome stability...
January 11, 2017: Current Opinion in Plant Biology
https://www.readbyqxmd.com/read/28087897/fgfr1-analyses-in-four-patients-with-hypogonadotropic-hypogonadism-with-split-hand-foot-malformation-implications-for-the-promoter-region
#19
Kohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, Yukihiro Hasegawa, Tatsuya Miyoshi, Tomonobu Hasegawa, Hideaki Miyoshi, Hiraku Kameda, Misuzu Kurokawa Seo, Maki Fukami, Tsutomu Ogata
Heterozygous loss-of-function mutations of FGFR1 cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect [c.289G>A, p.(G97S); and c.2231G>C, p.(R744T)], and case 3 had a splice donor site mutation [c.1663+1G>T]. Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved non-coding exon 1U and impaired FGFR1 expression...
January 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28087777/genome-sequencing-reveals-the-origin-of-the-allotetraploid-arabidopsis-suecica
#20
Polina Yu Novikova, Takashi Tsuchimatsu, Samson Simon, Viktoria Nizhynska, Viktor Voronin, Robin Burns, Olga M Fedorenko, Svante Holm, Torbjörn Säll, Elisa Prat, William Marande, Vincent Castric, Magnus Nordborg
Polyploidy is an example of instantaneous speciation when it involves the formation of a new cytotype that is incompatible with the parental species. Because new polyploid individuals are likely to be rare, establishment of a new species is unlikely unless polyploids are able to reproduce through self-fertilization (selfing), or asexually. Conversely, selfing (or asexuality) makes it possible for polyploid species to originate from a single individual - a bona fide speciation event. The extent to which this happens is not known...
January 12, 2017: Molecular Biology and Evolution
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