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https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#1
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730142/taming-parasites-by-tailoring-them
#2
Bingjian Ren, Nishith Gupta
The next-generation gene editing based on CRISPR (clustered regularly interspaced short palindromic repeats) has been successfully implemented in a wide range of organisms including some protozoan parasites. However, application of such a versatile game-changing technology in molecular parasitology remains fairly underexplored. Here, we briefly introduce state-of-the-art in human and mouse research and usher new directions to drive the parasitology research in the years to come. In precise, we outline contemporary ways to embolden existing apicomplexan and kinetoplastid parasite models by commissioning front-line gene-tailoring methods, and illustrate how we can break the enduring gridlock of gene manipulation in non-model parasitic protists to tackle intriguing questions that remain long unresolved otherwise...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#3
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28721057/safety-tolerability-and-risks-associated-with-first-and-second-generation-antipsychotics-a-state-of-the-art-clinical-review
#4
REVIEW
Marco Solmi, Andrea Murru, Isabella Pacchiarotti, Juan Undurraga, Nicola Veronese, Michele Fornaro, Brendon Stubbs, Francesco Monaco, Eduard Vieta, Mary V Seeman, Christoph U Correll, André F Carvalho
Since the discovery of chlorpromazine (CPZ) in 1952, first-generation antipsychotics (FGAs) have revolutionized psychiatric care in terms of facilitating discharge from hospital and enabling large numbers of patients with severe mental illness (SMI) to be treated in the community. Second-generation antipsychotics (SGAs) ushered in a progressive shift from the paternalistic management of SMI symptoms to a patient-centered approach, which emphasized targets important to patients - psychosocial functioning, quality of life, and recovery...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28716376/improving-the-safety-of-health-information-technology-requires-shared-responsibility-it-is-time-we-all-step-up
#5
Dean F Sittig, Elisabeth Belmont, Hardeep Singh
In 2011, an Institute of Medicine report on health information technology (IT) and patient safety highlighted that building health-IT for safer use is a shared responsibility between key stakeholders including: "vendors, care providers, healthcare organizations, health-IT departments, and public and private agencies". Use of electronic health records (EHRs) involves all these stakeholders, but they often have conflicting priorities and requirements. Since 2011, the concept of shared responsibility has gained little traction and EHR developers and users continue to attribute the substantial, long list of problems to each other...
July 14, 2017: Healthcare
https://www.readbyqxmd.com/read/28715309/rise-of-the-nanorobots-advances-in-control-molecular-detection-and-nanoscale-actuation-are-bringing-us-closer-to-a-new-era-of-technology-enhanced-by-nanorobots
#6
Stanislav Tsitkov, Henry Hess
In 1988, a Scientific American article by A.K. Dewdney [1] on the work of nanotechnologist K. Eric Drexler spurred public interest in the nascent field of nanotechnology and its potential for advancing humanity into a new technological age. The article portrayed a world run by nanoscale machines that could operate in any environment (Figure 1), with uses ranging from fighting infections in the human body to building tomorrow's skyscrapers. Nearly 30 years later, these visions of the future are closer than ever...
July 2017: IEEE Pulse
https://www.readbyqxmd.com/read/28714256/a1s_2811-a-chea-y-like-hybrid-two-component-regulator-from-acinetobacter%C3%A2-baumannii-atcc17978-is-involved-in-surface-motility-and-biofilm-formation-in-this-bacterium
#7
Rong Chen, Ruichen Lv, Lisheng Xiao, Min Wang, Zongmin Du, Yafang Tan, Yujun Cui, Yanfeng Yan, Yanping Luo, Ruifu Yang, Yajun Song
Two-component systems in Acinetobacter baumannii are associated with its virulence, drug resistance, motility, biofilm formation, and other characteristics. In this study, we used RecAb , a genetic engineering method, to investigate the function of A1S_2811 in A. baumannii strain ATCC17978. A1S_2811, a hypothetical hybrid sensor histidine kinase/response regulator, has four histidine-containing phosphotransfer domains, a CheA-like regulatory domain, and a CheY-like receiver domain at its C terminus. Compared with the ATCC17978 strain, both surface motility and biofilm formation at the gas-liquid interface decreased significantly in the A1S_2811 knock-out strain...
July 17, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28713637/regenerative-rehabilitation-an-innovative-and-multifactorial-approach-to-recovery-from-stroke-and-brain-injury
#8
Samantha M Portis, Paul R Sanberg
There is currently a dearth of treatment options for stroke or traumatic brain injury that can restore cognitive and motor function. Regenerative and translational medicine have ushered forth promising new methods for mediating recovery in the central nervous system, the most salient of which are rehabilitation and stem cell therapies that, when combined, result in more pronounced recovery than one approach alone.
2017: Cell Medicine
https://www.readbyqxmd.com/read/28704163/prevalence-of-macular-abnormalities-assessed-by-optical-coherence-tomography-in-patients-with-usher-syndrome
#9
Francesco Testa, Paolo Melillo, Settimio Rossi, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Raffaella Brunetti-Pierri, Simone Donati, Claudio Azzolini, Elio Marciano, Francesca Simonelli
BACKGROUND: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). MATERIAL AND METHODS: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28688563/a-novel-mutation-in-the-myo7a-gene-is-associated-with-usher-syndrome-type-1-in-a-chinese-family
#10
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#11
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28687531/informing-the-development-of-a-mobile-phone-hiv-testing-intervention-intentions-to-use-specific-hiv-testing-approaches-among-young-black-transgender-women-and-men-who-have-sex-with-men
#12
Beryl A Koblin, Vijay Nandi, Sabina Hirshfield, Mary Ann Chiasson, Donald R Hoover, Leo Wilton, DaShawn Usher, Victoria Frye
BACKGROUND: Regular human immunodeficiency virus (HIV) testing of persons at risk is critical to HIV prevention. Infrequent HIV testing and late diagnosis of HIV infection have been observed among young black men who have sex with men (MSM) and transwomen (transgender women)-two groups overrepresented in the HIV epidemic. OBJECTIVE: The objective of this study was to inform the development of a brief mobile phone intervention to increase HIV testing among young black MSM and transwomen by providing a tailored recommendation of an optimal HIV testing approach...
July 7, 2017: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/28686499/pathologists-computer-assisted-diagnosis-a-mock-up-of-a-prototype-information-system-to-facilitate-automation-of-pathology-sign-out
#13
Navid Farahani, Zheng Liu, Dylan Jutt, Jeffrey L Fine
CONTEXT: - Pathologists' computer-assisted diagnosis (pCAD) is a proposed framework for alleviating challenges through the automation of their routine sign-out work. Currently hypothetical, pCAD is based on a triad of advanced image analysis, deep integration with heterogeneous information systems, and a concrete understanding of traditional pathology workflow. Prototyping is an established method for designing complex new computer systems such as pCAD. OBJECTIVE: - To describe, in detail, a prototype of pCAD for the sign-out of a breast cancer specimen...
July 7, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28678594/visual-outcomes-in-japanese-patients-with-retinitis-pigmentosa-and-usher-syndrome-caused-by-ush2a-mutations
#14
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations...
July 5, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28674047/subinhibitory-concentrations-of-trimethoprim-and-sulfamethoxazole-prevent-biofilm-formation-by-acinetobacter-baumannii-through-inhibition-of-csu-pili-expression
#15
Ki Hwan Moon, Brent S Weber, Mario F Feldman
Acinetobacter baumannii is emerging as a multi-drug resistant nosocomial pathogen of increasing threat to human health worldwide. Pili are important bacterial virulence factors, playing a role in attachment to host cells and biofilm formation. The Csu pilus, assembled via the chaperone-usher secretion system, has been studied in A. baumannii ATCC 19606. Here we show that, in opposition to previous reports, the common lab strain ATCC 17978 produces Csu pili. We found that, although ATCC 17978 is resistant to sulfamethoxazole (Smx) and trimethoprim (Tmp), subinhibitory concentrations of these antibiotics abolish the expression of Csu and consequently a dramatic reduction in biofilm formation in ATCC 17978...
July 3, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28673597/infections-caused-by-resistant-organisms-could-organic-arsenic-compounds-be-an-effective-treatment
#16
Victor D Warner, Albert H Soloway
Without question one of the most important medicinal chemistry discoveries of the 20th century was made by Paul Ehrlich and his colleagues, chemist, Alfred Bertheim and bacteriologist, Sahachiro Hata. They ushered in the age of targeted chemotherapy in 1910 with the discovery of the anti-syphilitic organic arsenic agent, arsphenamine or Salvarsan (also known as 606). It was the clinical compound of choice for treating syphilis until penicillin and other antibiotics were introduced clinically in the 1940s. Yet now, more than 100years after its discovery, the precise biochemical mechanism by which this compound eliminates the syphilis spirochete in vivo from humans and animals remains unknown...
July 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28663585/cib2-interacts-with-tmc1-and-tmc2-and-is-essential-for-mechanotransduction-in-auditory-hair-cells
#17
Arnaud P J Giese, Yi-Quan Tang, Ghanshyam P Sinha, Michael R Bowl, Adam C Goldring, Andrew Parker, Mary J Freeman, Steve D M Brown, Saima Riazuddin, Robert Fettiplace, William R Schafer, Gregory I Frolenkov, Zubair M Ahmed
Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows of graded heights. Calcium and integrin-binding protein 2 is essential for hearing and localizes to stereocilia, but its exact function is unknown. Here, we have characterized two mutant mouse lines, one lacking calcium and integrin-binding protein 2 and one carrying a human deafness-related Cib2 mutation, and show that both are deaf and exhibit no mechanotransduction in auditory hair cells, despite the presence of tip links that gate the mechanotransducer channels...
June 29, 2017: Nature Communications
https://www.readbyqxmd.com/read/28661915/endocrine-dysfunction-following-immune-checkpoint-inhibitor-therapy
#18
Bhavana Konda, Fadi Nabhan, Manisha H Shah
PURPOSE OF REVIEW: Immune checkpoint inhibitors (ICI) represent an important milestone in the modern era of antineoplastic therapy and have ushered optimism amongst oncologists and patients alike. These agents, however, are associated with significant potential toxicities, the importance of which cannot be overstated. The clinical presentation, diagnosis, and management strategies of immune-related endocrinopathies associated with ICI use are described in this case-based review. RECENT FINDINGS: An increasing number of ICI have shown promise in the management of various malignancies in the recent years...
June 28, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28661013/pain-associated-with-pressure-injury-a-qualitative-study-of-community-based-home-dwelling-individuals
#19
Debra Jackson, Lisa Durrant, Emily Bishop, Helen Walthall, Ria Betteridge, Sarah Gardner, Wendy Coulton, Marie Hutchinson, Stephen Neville, Patricia M Davidson, Kim Usher
AIMS: To provide deep insights into the pain associated with pressure injuries in home-dwelling individuals using narrative accounts. BACKGROUND: Pressure injuries or pressure ulcers are burdensome and costly. Prevalence data, surveys and systematic reviews demonstrate that pain associated with pressure injury is widespread, but voices of home-dwelling patients have remained largely unheard. DESIGN: Concurrent mixed methods case study of a UK community of approximately 50,000 adults...
June 29, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28660984/directed-evolution-of-the-periodic-table-probing-the-electronic-structure-of-late-actinides
#20
M L Marsh, T E Albrecht-Schmitt
Recent investigations of the coordination chemistry and physical properties of berkelium (Z = 97) and californium (Z = 98) have revealed fundamental differences between post-curium elements and lighter members of the actinide series. This review highlights these developments and chronicles key findings and concepts from the last half-century that have helped usher in a new understanding of the evolution of electronic structure in the periodic table.
June 29, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
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