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https://www.readbyqxmd.com/read/29027038/rescue-of-outer-hair-cells-with-antisense-oligonucleotides-in-usher-mice-is-dependent-on-age-of-treatment
#1
Abhilash Ponnath, Frederic F Depreux, Francine M Jodelka, Frank Rigo, Hamilton E Farris, Michelle L Hastings, Jennifer J Lentz
The absence of functional outer hair cells is a component of several forms of hereditary hearing impairment, including Usher syndrome, the most common cause of concurrent hearing and vision loss. Antisense oligonucleotide (ASO) treatment of mice with the human Usher mutation, Ush1c c.216G>A, corrects gene expression and significantly improves hearing, as measured by auditory-evoked brainstem responses (ABRs), as well as inner and outer hair cell (IHC and OHC) bundle morphology. However, it is not clear whether the improvement in hearing achieved by ASO treatment involves the functional rescue of outer hair cells...
October 12, 2017: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/29025417/human-rights-and-mental-health-in-post-apartheid-south-africa-lessons-from-health-care-professionals-working-with-suicidal-inmates-in-the-prison-system
#2
Jason Bantjes, Leslie Swartz, Pieter Niewoudt
BACKGROUND: During the era of apartheid in South Africa, a number of mental health professionals were vocal about the need for socio-economic and political reform. They described the deleterious psychological and social impact of the oppressive and discriminatory Nationalist state policies. However, they remained optimistic that democracy would usher in positive changes. In this article, we consider how mental health professionals working in post-apartheid South Africa experience their work...
October 12, 2017: BMC International Health and Human Rights
https://www.readbyqxmd.com/read/29020241/infections-atherosclerosis-and-coronary-heart-disease
#3
Naga Venkata K Pothineni, Swathi Subramany, Kevin Kuriakose, Lily F Shirazi, Francesco Romeo, Prediman K Shah, Jawahar L Mehta
Atherosclerosis is a chronic inflammatory disease. Pathophysiological similarities between chronic infections and atherosclerosis triggered interest in a clinical association between these conditions. Various infectious microbes have been linked to atherosclerotic vascular disease in epidemiological studies. However, this association failed to satisfy the Koch's postulates of causation with multiple clinical trials demonstrating inefficacy of anti-infective therapies in mitigating atherosclerotic cardiovascular events...
July 12, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29019630/prolonged-hospital-discharge-for-children-with-technology-dependency-a-source-of-health-care-disparities
#4
Sarah A Sobotka, Rishi K Agrawal, Michael E Msall
Children with ventilator assistance have been supported in living at home since 1981 when parental advocacy ushered in a change to Medicaid policy. As the population of children who use medical technology such as long-term ventilation increases, we must critically evaluate our systems for preparing families for home life. Discharge delays persist in the modern era because of fragmentation between hospital and home systems. These discharge delays result in children spending time in less developmentally rich environments, further exacerbating the health and development disparities of children with complex disabilities...
October 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28993720/visions-of-the-life-course-risks-resources-and-vulnerability
#5
Kenneth F Ferraro, Markus H Schafer
Life course studies have ushered in unprecedented scientific interest not only in specific periods of human lives but also in the long-term processes associated with growing older. Studies that link periods of the life course have identified important sources of continuity and discontinuity and highlighted the antecedents of misfortune. Theories and conceptual frameworks have emerged to help scholars splice pieces of the life course together, but the need for conceptual clarity remains. Concepts such as vulnerability and disadvantage are important but used in many different ways by researchers...
2017: Research in Human Development
https://www.readbyqxmd.com/read/28992937/substrate-specificity-of-the-kinase-p-tefb-towards-the-rna-polymerase-ii-c-terminal-domain
#6
Eric B Gibbs, Tatiana N Laremore, Grace A Usher, Bede Portz, Erik C Cook, Scott A Showalter
The positive transcription elongation factor b (P-TEFb) promotes transcription elongation through phosphorylation of the RNA polymerase II C-terminal domain. This process is not well understood, partly due to difficulties in determining the specificity of P-TEFb toward the various heptad repeat motifs within the C-terminal domain. A simple assay using mass spectrometry was developed to identify the substrate specificity of the Drosophila melanogaster P-TEFb (DmP-TEFb) in vitro. This assay demonstrated that DmP-TEFb preferentially phosphorylates Ser5 and, surprisingly, that pre-phosphorylation or conserved amino acid variation at the 7-position in the heptad can alter DmP-TEFb specificity, leading to the creation of distinct double-phosphorylation marks...
October 6, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28988306/nanoscale-wide-band-semiconductors-for-photocatalytic-remediation-of-aquatic-pollution
#7
Biplab Sarkar, Akshay Vishnu Daware, Priya Gupta, Kishore Kumar Krishnani, Sunandan Baruah, Surajit Bhattacharjee
Water pollution is a serious challenge to the public health. Among different forms of aquatic pollutants, chemical and biological agents create paramount threat to water quality when the safety standards are surpassed. There are many conventional remediatory strategies that are practiced such as resin-based exchanger and activated charcoal/carbon andreverse osmosis. Newer technologies using plants, microorganisms, genetic engineering, and enzyme-based approaches are also proposed for aquatic pollution management...
October 7, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28983973/granuloma-annulare-associated-with-immune-checkpoint-inhibitors
#8
J Wu, B Y Kwong, K J Martires, K E Rieger, W H Chung, G V Iyer, M E Lacouture
Recent developments in cancer immunology have ushered in immunotherapy as a new era in anti-cancer therapy. The cytotoxic T lymphocyte antigen-4 (CTLA-4) and programmed cell death receptor-1(PD-1)/ PD ligand-1 (PD-L1) signaling pathway are immune checkpoints of tumour-induced immunosuppression. Immune checkpoint inhibitors (ICIs) activate cytotoxic T cells to attack tumour cells, leading to durable antitumour responses. By unbalancing the immune system, ICIs may induce autoimmunity that results in organ dysfunction, referred to as immune-related adverse events (irAEs)...
October 6, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28982322/pd-1-pd-l1-inhibitors-for-immuno-oncology-from-antibodies-to-small-molecules
#9
Qiaohong Geng, Peifu Jiao, Peng Jin, Gaoxing Su, Jinlong Dong, Bing Yan
BACKGROUND: The recent regulatory approvals of immune checkpoint protein inhibitors such as ipilimumab, pembrolizumab, nivolumab, atezolizumab, durvalumab, and avelumab ushered a new era in cancer therapy. These inhibitors do not attack tumor cells directly but instead mobilize the immune system to re-recognize and eradicate tumors, which endows them unique advantages including durable clinical responses and substantial clinical benefits. PD-1/PD-L1 inhibitors, a pillar of immune checkpoint protein inhibitors, have demonstrated unprecedented clinical efficacy in more than 20 cancer types...
October 4, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28980669/rare-diseases-rare-presentations-recognizing-atypical-inherited-kidney-disease-phenotypes-in-the-age-of-genomics
#10
Elisabet Ars, Roser Torra
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. Consequently, it has also allowed the reclassification of diseases and has broadened the phenotypic spectrum of many classical IKDs. Various genetic, epigenetic and environmental factors may explain 'atypical' phenotypes...
October 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28979619/-usher-syndrome-about-a-case
#11
Chama Daoudi, Noureddine Boutimzine, Samia El Haouzi, Omar Lezrek, Samira Tachfouti, Mounir Lezrek, Mina Laghmari, Rajae Daoudi
Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28967191/missense-variants-in-the-x-linked-gene-prps1-cause-retinal-degeneration-in-females
#12
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, Anthony G Robson, Nikolas Pontikos, Monica Arasanz Armengol, Vincent Plagnol, Takaaki Hayashi, Takeshi Iwata, Matthew Parker, Tom Fowler, Augusto Rendon, Jessica C Gardner, Robert H Henderson, Michael E Cheetham, Andrew R Webster, Michel Michaelides, Alison J Hardcastle
Retinal dystrophies are a heterogeneous group of disorders of visual function leading to partial or complete blindness. We report the genetic basis of an unusual retinal dystrophy in five families with affected females and no affected males. Heterozygous missense variants were identified in the X-linked PRPS1 gene: c.47C > T, p.(Ser16Phe); c.586C > T, p.(Arg196Trp); c.641G > C, p.(Arg214Pro) and c.640C > T, p.(Arg214Trp). Missense variants in PRPS1 are usually associated with disease in male patients, including Arts Syndrome, Charcot-Marie-Tooth and non-syndromic sensorineural deafness...
October 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28963426/books-the-ten-types-of-human-a-new-understanding-of-who-we-are-and-who-we-can-be-the-need-for-compassionate-kindness
#13
Natasha Usher
No abstract text is available yet for this article.
October 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28961351/intrathecal-therapeutics-device-design-access-methods-and-complication-mitigation
#14
REVIEW
Sean J Nagel, Chandan G Reddy, Leonardo A Frizon, Marshall T Holland, Andre G Machado, George T Gillies, Matthew A Howard
INTRODUCTION: The intrathecal space remains underutilized for diagnostic testing, invasive monitoring or as a pipeline for the delivery of neurological therapeutic agents and devices. The latter including drug infusions, implants for electrical modulation, and a means for maintaining the physiologic pressure column. The reasons for this are many but include unfamiliarity with the central nervous system and the historical risks that continue to overshadow the low complication rates in modern clinical series...
September 29, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28960736/safety-risk-and-aggression-health-professionals-experiences-of-caring-for-people-affected-by-methamphetamine-when-presenting-for-emergency-care
#15
Kim Usher, Debra Jackson, Cindy Woods, Jan Sayers, Rachel Kornhaber, Michelle Cleary
The crystalline form of methamphetamine, commonly known as crystal meth (crystal methamphetamine) or ICE, is a highly-addictive and powerful stimulant. Users of crystal meth often require emergency care, and are associated with a substantial burden of care by emergency care providers. The aim of the present qualitative study was to explore health professionals' experiences of providing care for patients affected by ICE who presented to the emergency department (ED). Nine semistructured interviews were conducted...
October 2017: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/28951997/novel-compound-heterozygous-mutations-in-the-gpr98-ush2c-gene-identified-by-whole-exome-sequencing-in-a-moroccan-deaf-family
#16
Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Mustapha Detsouli, Hassan Rouba, Majida Charif, Guy Lenaers, Abdelhamid Barakat
In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances...
October 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28944237/next-generation-sequencing-reveals-the-mutational-landscape-of-clinically-diagnosed-usher-syndrome-copy-number-variations-phenocopies-a-predominant-target-for-translational-read-through-and-pex26-mutated-in-heimler-syndrome
#17
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M Korbmacher, Dagmar Huhle, Solaf M Elsayed, Hesham M Taha, Shahid M Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O Khan, Hanno J Bolz
BACKGROUND: Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). METHODS: Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. RESULTS: A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28940787/the-journal-of-diabetes-ushering-in-volume-10
#18
EDITORIAL
Zachary Bloomgarden, Guang Ning
As developments progress in the understanding and treatment of diabetes, we take a moment to reflect on the Journal as it enters its tenth year. It has been a decade of tremendous change. In 2009, the diabetes community was recovering from the shock of ACCORD trial : 257 deaths over 3.5 years with an achieved A1c of 6.4% among 5128 intensively treated the high cardiovascular risk patients, compared with 203 deaths with an achieved A1c of 7.5% among 5123 having "standard treatment"((1) ).
September 22, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28934368/a-single-danio-rerio-hars-gene-encodes-both-cytoplasmic-and-mitochondrial-histidyl-trna-synthetases
#19
Ashley L Waldron, Sara Helms Cahan, Christopher S Franklyn, Alicia M Ebert
Histidyl tRNA Synthetase (HARS) is a member of the aminoacyl tRNA synthetase (ARS) family of enzymes. This family of 20 enzymes is responsible for attaching specific amino acids to their cognate tRNA molecules, a critical step in protein synthesis. However, recent work highlighting a growing number of associations between ARS genes and diverse human diseases raises the possibility of new and unexpected functions in this ancient enzyme family. For example, mutations in HARS have been linked to two different neurological disorders, Usher Syndrome Type IIIB and Charcot Marie Tooth peripheral neuropathy...
2017: PloS One
https://www.readbyqxmd.com/read/28933072/-metabolomics-research-of-medicinal-plants
#20
Li-Xin Duan, Yun-Tao Dai, Chao Sun, Shi-Lin Chen
Metabolomics is the comprehensively study of chemical processes involving small molecule metabolites. It is an important part of systems biology, and is widely applied in complex traditional Chinese medicine(TCM)system. Metabolites biosynthesized by medicinal plants are the effective basis for TCM. Metabolomics studies of medicinal plants will usher in a new period of vigorous development with the implementation of Herb Genome Program and the development of TCM synthetic biology. This manuscript introduces the recent research progresses of metabolomics technology and the main research contents of metabolomics studies for medicinal plants, including identification and quality evaluation for medicinal plants, cultivars breeding, stress resistance, metabolic pathways, metabolic network, metabolic engineering and synthetic biology researches...
November 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
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