keyword
MENU ▼
Read by QxMD icon Read
search

CMT

keyword
https://www.readbyqxmd.com/read/28646440/a-comparison-of-three-different-intravitreal-treatment-modalities-of-macular-edema-due-to-branch-retinal-vein-occlusion
#1
Havva Erdogan Kaldırım, Serpil Yazgan
PURPOSE: To compare the efficacy of intravitreal injection of ranibizumab, dexamethasone implant and aflibercept for the management of macular edema (ME) related to branch retinal vein occlusion (BRVO). METHODS: This retrospective and comparative study included 62 eyes of 62 patients with BRVO and ME. Patients received one of the following treatments: 0.5 mg ranibizumab (group 1, n = 22), 0.7 mg dexamethasone implant (group 2, n = 20) and 2 mg aflibercept (group 3, n = 20)...
June 23, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28642160/a-novel-missense-variant-gln220arg-of-gnb4-encoding-guanine-nucleotide-binding-protein-subunit-beta-4-in-a-japanese-family-with-autosomal-dominant-motor-and-sensory-neuropathy
#2
Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Kazuhito Noda, Kengo Kosaka, Takayuki Taniwaki, Hiroki Shibata
Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28635617/the-dosimetric-impact-of-gadolinium-based-contrast-media-in-gbm-brain-patient-plans-for-a-mri-linac
#3
Syed Bilal Ahmad, Moti Raj Paudel, Arman Sarfehnia, Anthony Kim, Geordi Pang, Mark Ruschin, Arjun Sahgal, Brian M Keller
Dosimetric effects of gadolinium based contrast media (Gadovist) were evaluated for the Elekta MRI Linear accelerator (MRL) using the research version of Monaco treatment planning system (TPS). In order to represent a gadolinium uptake it was manually assigned to a phantom as well as to the Gross Tumour Volume (GTV) of 6 Glioblastoma Multiforme (GBM) patients. A preliminary estimate of dose enhancement, due to gadolinium, was performed using the phantom irradiated with a single beam. More complicated assessment was performed for the GBM patients using a 7 field IMRT technique...
June 21, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#4
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, Charles Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes an Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
June 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#5
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steve Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However there are no prospective randomized studies on surgical management, and there is variation in the approache between centers in the same country and between different countries. METHODS: We assessed the frequency of foot deformities and surgery among patients recruited to the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28630789/efficacy-of-intravitreal-bevacizumab-in-treatment-of-proliferative-type-2-idiopathic-juxtafoveal-telangiectasia
#6
Ökkeş Baz, İhsan Yılmaz, Cengiz Alagöz, Ali Demircan, İrfan Perente, Abdullah Özkaya, Muhittin Taşkapılı
OBJECTIVES: To evaluate the effectiveness of intravitreal bevacizumab (IVB) in patients with subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia. MATERIALS AND METHODS: Ten eyes of 10 patients were included in this retrospective study. All cases were treated with IVB (1.25 mg bevacizumab). Visual acuity and slit-lamp anterior and posterior segment examinations were performed at each visit. Central macular thickness (CMT) and intraretinal/subretinal fluid were evaluated via spectral domain optical coherence tomography (OCT)...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#7
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28624378/glucose-triggered-enhanced-solubilisation-release-and-cytotoxicity-of-poorly-water-soluble-anti-cancer-drugs-fromt1307-micelles
#8
Pooja Patidar, Sadafara A Pillai, Urjita Sheth, Pratap Bahadur, Anita Bahadur
Tetronic(®) 1307 (here after written as T1307) is a hydrophilic ethylene oxide-propylene oxide (EO-PO) star block copolymer with long EO chains (Total MW- 18000 and 70% EO). Although biocompatible, its use as a nanocarrier is restricted owing to its high critical micelle concentration (CMC) and temperature (CMT). We examined if the addition of glucose, a common pharmaceutical ingredient promotes micellization. Scattering and thermal studies show formation of stable unimodal micelles and cloud point (CP) decreased linearly...
June 15, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28617998/schwann-cell-specific-deletion-of-the-endosomal-pi-3-kinase-vps34-leads-to-delayed-radial-sorting-of-axons-arrested-myelination-and-abnormal-erbb2-erbb3-tyrosine-kinase-signaling
#9
Anne M Logan, Anna E Mammel, Danielle C Robinson, Andrea L Chin, Alec F Condon, Fred L Robinson
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann cells by selectively deleting Vps34 in this cell type. Vps34-Schwann cell knockout (Vps34(SCKO) ) mice show severe hypomyelination in peripheral nerves...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28603119/effect-of-chongmyungtang-a-traditional-korean-polyherbal-formula-on-the-pharmacokinetic-profiles-of-donepezil-in-rats
#10
Kyung-Min Baek, Oh-Dae Kwon, Soo-Jin Park, Chang-Hyun Song, Sae-Kwang Ku
Chongmyungtang (CMT) is a famous Korean herbal medicine for improving learning and memory, which has been reported to have anti-cholinergic and neuroprotective effects. Therefore, drug-drug interactions were examined between CMT and donepezil as a first screening of combination therapy for cognitive deficits. Rats received oral co-administration of donepezil with distilled water as a control or donepezil with CMT as a combination. The distilled water or CMT was co-administered at intervals within 5min after donepezil or 1...
January 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#11
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28601465/evaluation-of-an-automated-milk-leukocyte-differential-test-and-the-california-mastitis-test-for-detecting-intramammary-infection-in-early-and-late-lactation-quarters-and-cows
#12
S M Godden, E Royster, J Timmerman, P Rapnicki, H Green
Study objectives were to (1) describe the diagnostic test characteristics of an automated milk leukocyte differential (MLD) test and the California mastitis test (CMT) to identify intramammary infection (IMI) in early- (EL) and late-lactation (LL) quarters and cows when using 3 different approaches to define IMI from milk culture, and (2) describe the repeatability of MLD test results at both the quarter and cow level. Eighty-six EL and 90 LL Holstein cows were sampled from 3 Midwest herds. Quarter milk samples were collected for a cow-side CMT test, milk culture, and MLD testing...
June 7, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28600854/impact-of-intramammary-tilmicosin-infusion-as-a-dry-cow-therapy
#13
M Mohammadsadegh
Three hundred subclinically infected quarters of 259 Holstein cows infected with gram-positive bacteria were selected via quota sampling based on the California Mastitis Test (CMT) result and were divided randomly and equally into treatment and test groups. Quarters of test group (n = 150 in 128 cows) were treated with an intramammary infusion of tilmicosin, and quarters of the control group (n = 150 in 131 cows) were treated with cloxacillin as a traditional intramammary infusion of dry cow (DC) ointment...
June 10, 2017: Journal of Veterinary Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28598500/using-propensity-score-matching-to-evaluate-the-effect-of-complementary-medicine-on-clinical-and-embryologic-outcomes-of-in-vitro-fertilization
#14
Anat Porat-Katz, Talia Eldar-Geva, Arik Kahane, Ora Paltiel
OBJECTIVE: To evaluate associations between using complementary medical therapies (CMTs) and embryologic and clinical outcomes of in vitro fertilization (IVF). METHODS: The present prospective questionnaire-based cohort study enrolled women aged 18-44 years undergoing their first, second, or third IVF cycle using their own oocytes at a large IVF clinic in Israel between February 1, 2013, and July 31, 2015. Clinical and embryologic data were obtained from patient records and patients completed a self-administered questionnaire that included details of any CMTs used to treat infertility...
May 15, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28596286/one-year-outcome-of-intravitreal-ziv-aflibercept-therapy-for-non-responsive-neovascular-age-related-macular-degeneration
#15
Imoro Zeba Braimah, Komal Agarwal, Ahmad Mansour, Jay Chhablani
AIM: To evaluate 12-month outcome of intravitreal ziv-aflibercept (IVZ) therapy in eyes with neovascular age-related macular degeneration (nAMD) that are non-responsive to bevacizumab and ranibizumab. METHODS: This retrospective study included 16 eyes (14 patients) with nAMD who were on prior treatment with bevacizumab and ranibizumab and were treated with as-needed IVZ (1.25 mg/0.05 mL) for 12 months. The primary outcome measure was the mean change in best corrected visual acuity (BCVA) and secondary outcome measures included mean change in central macular thickness (CMT), retinal pigment epithelial detachment (RPED) heights, longest treatment free interval, presence of subretinal fluid (SRF) and intraretinal fluid (IRF) and adverse events...
June 8, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#16
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28595321/mitochondrial-deficits-and-abnormal-mitochondrial-retrograde-axonal-transport-play-a-role-in-the-pathogenesis-of-mutant-hsp27-induced-charcot-marie-tooth-disease
#17
Bernadett Kalmar, Amy Innes, Klaus Wanisch, Alicia Koyen Kolaszynska, Amelie Pandraud, Gavin Kelly, Andrey Y Abramov, Mary M Reilly, Giampietro Schiavo, Linda Greensmith
Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and mutant Hsp27. We found significantly slower retrograde transport of mitochondria in Ser135Phe, Pro39Leu and Arg140Gly mutant Hsp27 expressing motor neurons than in wild type Hsp27 neurons, although anterograde movement velocities remained normal...
June 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28587902/involvement-of-charcot-marie-tooth-disease-gene-mitofusin-2-expression-in-paclitaxel-induced-mechanical-allodynia-in-rats
#18
Yuta Yamashita, Keiichi Irie, Akane Kochi, Nami Kimura, Toshinobu Hayashi, Koichi Matsuo, Takayuki Myose, Kazunori Sano, Takafumi Nakano, Yumi Takase, Yoshihiko Nakamura, Tomomitsu Satho, Kenji Mishima, Kenichi Mishima
Paclitaxel induces peripheral neuropathy, which is dose-limiting and results in loss of quality of life. Therefore, the prevention and treatment of paclitaxel-induced peripheral neuropathy are major concerns in clinical cancer therapy. However, the detailed mechanisms have not been fully elucidated. It has recently been reported that allelic variability in the Charcot-Marie-Tooth disease (CMT) genes, mitofusin 2 (MFN2), Rho guanine nucleotide exchange factor 10 (ARHGEF10), and periaxin (PRX), affected paclitaxel-induced peripheral neuropathy in clinical cases...
June 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28587275/a-high-speed-target-free-vision-based-sensor-for-bus-rapid-transit-viaduct-vibration-measurements-using-cmt-and-orb-algorithms
#19
Qijun Hu, Songsheng He, Shilong Wang, Yugang Liu, Zutao Zhang, Leping He, Fubin Wang, Qijie Cai, Rendan Shi, Yuan Yang
Bus Rapid Transit (BRT) has become an increasing source of concern for public transportation of modern cities. Traditional contact sensing techniques during the process of health monitoring of BRT viaducts cannot overcome the deficiency that the normal free-flow of traffic would be blocked. Advances in computer vision technology provide a new line of thought for solving this problem. In this study, a high-speed target-free vision-based sensor is proposed to measure the vibration of structures without interrupting traffic...
June 6, 2017: Sensors
https://www.readbyqxmd.com/read/28581500/hyperactivation-of-hush-complex-function-by-charcot-marie-tooth-disease-mutation-in-morc2
#20
Iva A Tchasovnikarova, Richard T Timms, Christopher H Douse, Rhys C Roberts, Gordon Dougan, Robert E Kingston, Yorgo Modis, Paul J Lehner
Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing by the HUSH complex. HUSH recruits MORC2 to target sites in heterochromatin. We exploited a new method, differential viral accessibility (DIVA), to show that loss of MORC2 results in chromatin decompaction at these target loci, which is concomitant with a loss of H3K9me3 deposition and transcriptional derepression...
June 5, 2017: Nature Genetics
keyword
keyword
37387
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"