keyword
MENU ▼
Read by QxMD icon Read
search

def

keyword
https://www.readbyqxmd.com/read/28524840/a-novel-de-novo-gata-binding-protein-3-mutation-in-a-patient-with-hypoparathyroidism-sensorineural-deafness-and-renal-dysplasia-syndrome
#1
Xue-Ying Chu, Yue-Peng Li, Min Nie, Ou Wang, Yan Jiang, Mei Li, Wei-Bo Xia, Xiao-Ping Xing
No abstract text is available yet for this article.
June 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28521875/exome-sequencing-reveals-a-de-novo-pold1-mutation-causing-phenotypic-variability-in-mandibular-hypoplasia-deafness-progeroid-features-and-lipodystrophy-syndrome-mdpl
#2
Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre-Giovannoli
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28520991/effects-of-a-picture-racetrack-game-on-the-expressive-vocabulary-of-deaf-preschoolers
#3
Carrie A Davenport, Sheila R Alber-Morgan, Shannon M Clancy, Michael P Kranak
This study examined the effects of a picture racetrack game on the acquisition, maintenance, and generalization of picture labeling for 2 preschool students who are deaf. The game consisted of placing photographs representing individualized target vocabulary around a racetrack board and prompting the participant to sign each photo. A multiple baseline design across picture sets demonstrated that playing the picture racetrack game was functionally related to acquisition of vocabulary to 100% mastery on at least 3 consecutive sessions for each participant...
May 18, 2017: Journal of Deaf Studies and Deaf Education
https://www.readbyqxmd.com/read/28516959/adaptive-psychological-structure-in-childhood-hearing-impairment-audiological-correlations
#4
A Serra, G Spinato, S Cocuzza, L Licciardello, P Pavone, L Maiolino
The present research deals with the clinical and social problems present during linguistic and cognitive development of deaf children. Currently, the development of Theory of Mind represents an important research field in deafness studies. These international studies highlighted a significant alteration in the development of Theory of Mind in deaf children compared to normal hearing children, especially in cases of congenital or preverbal hearing loss. In particular, the research focuses on the skills of deaf children in recognising emotions and desires, through both perceptive and cognitive methods, by evaluation of psycho-cognitive skills of children with severe hearing loss using a set of questions to be administered to hearing loss patients...
June 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28516283/developmental-window-of-sensorineural-deafness-in-biotinidase-deficient-mice
#5
Kathleen June Maheras, Kirit Pindolia, Barry Wolf, Alexander Gow
Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits and deafness. To understand early mechanistic abnormalities that may precede more generalized and nonspecific effects of metabolic deficits such as weight loss and acidosis, we have analyzed auditory brainstem responses (ABRs) in biotinidase-deficient knockout (Btd (-/-) ) mice in the periweaning period with or without dietary biotin supplementation...
May 17, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28511890/intratympanic-steroid-delivery-by-an-indwelling-catheter-in-refractory-severe-sudden-sensorineural-hearing-loss
#6
Diego Zanetti, Federica Di Berardino, Nader Nassif, Luca Oscar Redaelli De Zinis
OBJECTIVE: Many studies over the last decade showed favorable outcomes with intratympanic (IT) steroid treatment, alone as salvage treatment or in combination with conventional systemic therapy (ST). However, in severe to profound sensorineural hearing loss resistant to ST, the optimal infusion mode, the type and concentration of the solution, the preferable drug, its total amount, and the duration and fractionation of the treatment are still debated. Aim of the study was to investigate the feasibility and the outcomes of a direct and constant IT delivery of dexamethasone (DEX) by means of a new indwelling catheter...
May 13, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28510511/corrigendum
#7
(no author information available yet)
Birkeland AC, Owen JH, Prince ME. 2015. Targeting head and neck cancer stem cells: current advances and future challenges. J Dent Res. 94(11):1516-1523. (Original DOI: 10.1177/0022034515601960 ) In this article, the funding source was not declared. The Acknowledgments have been updated in the online article as follows: Andrew Birkeland is a Research Fellow funded on a T32 Advanced Research Training in Otolaryngology Program Training Grant (T32 DC005356) funded by the National Institutes of Health NIDCD (National Institute On Deafness And Other Communication Disorders)...
May 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28510420/non-target-analysis-reveals-a-bacterial-metabolite-of-pyrene-implicated-in-the-genotoxicity-of-contaminated-soil-after-bioremediation
#8
Zhenyu Tian, Avram Gold, Jun Nakamura, Zhenfa Zhang, Joaquim Vila, David R Singleton, Leonard Bruce Collins, Michael D Aitken
Bioremediation is an accepted technology for cleanup of soil contaminated with polycyclic aromatic hydrocarbons (PAHs), but it can increase the genotoxicity of the soil despite removal of the regulated PAHs. Although polar biotransformation products have been implicated as causative genotoxic agents, no specific product has been identified. We pursued a non-target analytical approach combining effect-directed analysis (EDA) and metabolite profiling to compare extracts of PAH-contaminated soil from a former manufactured-gas plant site before and after treatment in a laboratory-scale aerobic bioreactor...
May 16, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28509080/evaluation-of-dose-enhancement-in-presence-of-gold-nanoparticles-in-eye-brachytherapy-by-103-pd-source
#9
Hadi Rezaei, Mansour Zabihzadeh, Mahdi Ghorbani, Foad Goli Ahmadabad, Hesameddin Mostaghimi
In recent years, the use of gold nanoparticles in radiation therapy has been introduced as a new approach in radiotherapy. The aim of this study is to investigate the effect of gold nanoparticles (GNPs) in plaque brachytherapy for choroidal melanoma using Monte Carlo (MC) simulation. MCNPX code was used for simulation of human eye, (103)Pd (model 200) brachytherapy source and the 20 mm COMS eye plaque that was loaded with 24 (103)Pd seeds and standardized by Collaborative Ocular Melanoma Study (COMS). The tumour was defined from the inner surface of choroid with 0...
May 16, 2017: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/28506442/boosting-syntax-training-with-temporally-regular-musical-primes-in-children-with-cochlear-implants
#10
N Bedoin, A-M Besombes, E Escande, A Dumont, P Lalitte, B Tillmann
OBJECTIVES: Previous research has suggested the use of rhythmic structures (implemented in musical material) to improve linguistic structure processing (i.e., syntax processing), in particular for populations showing deficits in syntax and temporal processing (e.g., children with developmental language disorders). The present study proposes a long-term training program to improve syntax processing in children with cochlear implants, a population showing syntax processing deficits in perception and production...
May 11, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28505178/a-reverse-dot-blot-assay-for-the-screening-of-twenty-mutations-in-four-genes-associated-with-nshl-in-a-chinese-population
#11
Siping Li, Qi Peng, Shengyun Liao, Wenrui Li, Qiang Ma, Xiaomei Lu
BACKGROUND: Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS: We developed a PCR-reverse dot blot (RDB) assay for screening 20 hotspot mutations of GJB2, GJB3, SLC26A4, and MT-RNR1, which are common non-syndromic hearing loss (NSHL)-associated genes in the Chinese population...
2017: PloS One
https://www.readbyqxmd.com/read/28504979/congenital-deafness-alters-sensory-weighting-for-postural-control
#12
Maxime Maheu, Andréanne Sharp, Sara Pagé, François Champoux
OBJECTIVES: The aim of this study was to examine sensory reweighting for postural control in congenitally deaf individuals. DESIGN: We studied 14 controls and 14 deaf age-matched individuals using a force platform and the modified clinical test of sensory interaction and balance protocol. Both groups performed the postural tasks without auditory cues (with hearing protectors for controls or without hearing devices for the deaf). RESULTS: The results confirmed poorer postural stability in the deaf...
May 12, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28504928/the-murine-catecholamine-methyltransferase-mtomt-is-essential-for-mechanotransduction-by-cochlear-hair-cells
#13
Christopher L Cunningham, Zizhen Wu, Aria Jafari, Bo Zhao, Kat Schrode, Sarah Harkins-Perry, Amanda Lauer, Ulrich Mueller
Hair cells of the cochlea are mechanosensors for the perception of sound. Mutations in the LRTOMT gene, which encodes a protein with homology to the catecholamine methyltransferase COMT that is linked to schizophrenia, cause deafness. Here we show that Tomt/Comt2, the murine ortholog of LRTOMT, has an unexpected function in the regulation of mechanotransduction by hair cells. The role of mTOMT in hair cells is independent of mTOMT methyltransferase function and mCOMT cannot substitute for mTOMT function. Instead, mTOMT binds to putative components of the mechanotransduction channel in hair cells and is essential for the transport of some of these components into the mechanically sensitive stereocilia of hair cells...
May 15, 2017: ELife
https://www.readbyqxmd.com/read/28504500/infantile-onset-thiamine-responsive-megaloblastic-anemia-syndrome-with-slc19a2-mutation-a-case-report
#14
Nagehan Katipoğlu, Tuba H Karapinar, Korean Demir, Sultan Aydin Köker, Özlem Nalbantoğlu, Yılmaz Ay, Hüseyin A Korkmaz, Yeşim Oymak, Melek Yıldız, Selma Tunç, Filiz Hazan, Canan Vergin, Behzat Ozkan
BACKGROUND: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION: We report a girl which presented with sensorineural deafness treated with a hearing prosthesis, insulin requiring diabetes, macrocytic anemia, treated with thiamine (100 mg/day)...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502915/a-dialogue-on-the-multiple-facets-of-sustainability
#15
Goedele A De Clerck, Patricia Hermann-Shores, Markku Jokinen, Sam Lutalo-Kiingi, Donald F Moores, Annika Pabsch, Peter V Paul, Alys Young
This chapter contains excerpts from a conversation among the contributors to Sign Language, Equal Opportunities, and Sustainable Development (De Clerck & Paul, 2016) during a workshop that preceded the International Conference on Sign Language, Sustainable Development, and Equal Opportunities (Ghent University, Belgium, April 2014). The objective of the conversation was to illustrate an open-ended, dialogical approach that added an interactive component to the book and inspired further thoughts and exchanges...
2017: American Annals of the Deaf
https://www.readbyqxmd.com/read/28502913/scaffolding-the-communication-of-people-with-congenital-deafblindness-an-analysis-of-sequential-interaction-patterns
#16
Saskia Damen, Marleen J Janssen, Wied A Ruijssenaars, Carlo Schuengel
The High Quality Communication intervention aims to stimulate interpersonal communication between individuals with congenital deaf-blindness (CDB) and their social partners. Found effective in multiple-case experiments, the intervention is based on Trevarthen's theory of inter-subjective development (Bråten & Trevarthen, 2007), which describes children's innate and developing ability to share subjective states in interpersonal communication and social partners' mediating role in this development. One implication of this theory is that social partners can support the emergence of higher-complexity communication behaviors in individuals who are still developing these behaviors...
2017: American Annals of the Deaf
https://www.readbyqxmd.com/read/28502912/thinking-styles-and-quality-of-university-life-among-deaf-or-hard-of-hearing-and-hearing-students
#17
Sanyin Cheng, Li-Fang Zhang
The authors explored how thinking styles relate to quality of university life among deaf or hard of hearing (DHH) and hearing university students in mainland China. The first of two studies affirmed the validity and reliability of a modified version of the Quality of University Life Measure (QULM; Sirgy, Grezskowiak, & Rahtz, 2007) among 833 university students (366 DHH, 467 hearing). The second investigated relationships between thinking styles and quality of university life; the Thinking Styles Inventory-Revised II (Sternberg, Wagner, & Zhang, 2007) and modified QULM were administered to 542 students (256 DHH, 286 hearing)...
2017: American Annals of the Deaf
https://www.readbyqxmd.com/read/28499298/-cochlear-implant-state-of-the-art
#18
Thomas Lenarz
Cochlear implants are the treatment of choice for the auditory rehabilitation of patients with sensory deafness. They restore the missing function of inner hair cells by transforming the acoustic signal into electrical stimuli for activation of auditory nerve fibers. Due to the very fast technology development cochlear implants provide open-set speech understanding in the majority of patients including the use of the telephone. Children can achieve a near to normal speech and language development provided their deafness is detected early after onset and implantation is performed quickly thereafter...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28499296/-implantable-hearing-devices
#19
Matthias Tisch
Combined hearing loss is an essential indication for implantable hearing systems. Depending on the bone conduction threshold, various options are available: Patients with mild sensorineural deafness usually benefit from transcutaneous BCI, while percutaneous BCI systems are recommended also for moderate hearing loss. For combined hearing loss with moderate and high-grade cochlear hearing loss, active middle ear implants are recommended. For patients with incompatibilities or middle ear surgery, implants are a valuable and proven addition to the therapeutic options...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#20
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
keyword
keyword
27926
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"