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https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#1
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28210037/a-study-on-asymmetry-in-infants-with-congenital-muscular-torticollis-according-to-head-rotation
#2
KyeongSoo Lee, EunJung Chung, Byoung-Hee Lee
[Purpose] The purpose of this study was to research asymmetry in infants with congenital muscular torticollis (CMT) according to head rotation. [Subjects and Methods] 70 infants with CMT were divided into grade I, grade II, and grade III according to the asymmetry of cervical rotation. Patients received ultrasound and massage therapy for 30 minutes, in conjunction with passive stretching exercises, 3 times a week. Repeated measurement results from interventions were presented from baseline, 3 months, and 6 months...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#3
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28178161/longitudinal-follow-up-of-muscle-echotexture-in-infants-with-congenital-muscular-torticollis
#4
Ching-Fang Hu, Tieh-Cheng Fu, Chung-Yao Chen, Carl Pai-Chu Chen, Yu-Ju Lin, Chih-Chin Hsu
Unilateral fibrous contracture of the sternocleidomastoid (SCM) muscle is the major pathophysiology in infants with congenital muscular torticollis (CMT). Physical examination is not always sufficient to detect minimal muscle fibrosis in involved SCM muscles.A prospective study for SCM muscle fibrosis in CMT infants by quantifying echotexture and muscle thickness during the course of treatment is highlighted in the study.Convenience samples of 21 female and 29 male infants with CMT, who were 1 to 12 months old, underwent physiotherapy for at least 3 months and were followed for 4...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28168567/extended-targeted-retinal-photocoagulation-versus-conventional-pan-retinal-photocoagulation-for-proliferative-diabetic-retinopathy-in-a-randomized-clinical-trial
#5
Homayoun Nikkhah, Hossein Ghazi, Mohammad Reza Razzaghi, Saeed Karimi, Alireza Ramezani, Masoud Soheilian
PURPOSE: To determine the clinical efficacy of extended targeted retinal photocoagulation (ETRP) compared to conventional panretinal photocoagulation (CPRP) in proliferative diabetic retinopathy (PDR). METHODS: In a single-masked randomized clinical trial, 270 eyes of 234 patients with naïve early or high-risk PDR were randomly assigned to receive either CPRP or ETRP (135 eyes, each treatment arm). Best-corrected visual acuity (BCVA) measurement, fundus examination, wide-field fluorescein angiography (WFFA) and optical coherence tomography were carried out before and 3 months after retinal photocoagulation...
February 6, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28165835/assessment-of-the-anterior-chamber-flare-and-macular-thickness-in-patients-treated-with-topical-antiglaucomatous-drugs
#6
Fırat Selen, Oya Tekeli, Özge Yanık
PURPOSE: To determine the changes in the anterior chamber flare and central macular thickness (CMT) under topical antiglaucomatous therapy. METHODS: This study included 121 eyes of 73 patients and 36 eyes of 18 controls. Glaucoma patients were divided into 3 groups (timolol maleate, latanoprost, and bimatoprost). Control eyes did not receive any medications. Flare and CMT measurements were performed at baseline and follow-up visits (15th day, and 1st, 3rd, 6th, and 12th month)...
February 6, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28165610/diabetic-macular-edema-outcomes-in-eyes-treated-with-fluocinolone-acetonide-0-2-%C3%A2%C2%B5g-d-intravitreal-implant-real-world-uk-experience
#7
Ibraheem El-Ghrably, David H W Steel, Maged Habib, Daniela Vaideanu-Collins, Sridhar Manvikar, Roxane J Hillier
PURPOSE: To conduct an observational, multicenter study to evaluate real-world clinical efficacy and safety of the 0.2 µg/day fluocinolone acetonide (FAc) implant in the treatment of patients with chronic diabetic macular edema (DME) in 3 large hospital ophthalmology departments in the United Kingdom. METHODS: Fluocinolone acetonide implants were inserted into the study eyes following a suitable washout period; phakic eyes received FAc implant following cataract surgery...
February 6, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28164329/charcot-marie-tooth-disease-type-1c-clinical-and-electrophysiological-findings-for-the-c-334g-a-p-gly112ser-litaf-simple-mutation
#8
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Charcot-Marie-Tooth Disease type 1 C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. METHODS: We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases...
February 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28161829/effect-of-oral-niacin-on-central-retinal-vein-occlusion
#9
Michael W Gaynon, Yannis M Paulus, Ehsan Rahimy, Janet L Alexander, Sam E Mansour
PURPOSE: Niacin, a treatment for dyslipidemia, is known to induce vasodilation as a secondary effect. Previous instances of patients with chronic central retinal vein occlusion (CRVO) and cystoid macular edema (CME) have been observed to spontaneously improve when placed on systemic niacin for hypercholesterolemia. The purpose of this study was to evaluate the effects of niacin on CRVO and associated ocular complications. METHODS: A prospective, single-center, non-randomized, interventional case series of niacin for CRVO was conducted...
February 4, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28155232/pax9-gene-mutations-and-tooth-agenesis-a-review
#10
REVIEW
Ondřej Bonczek, Vladimir J Balcar, Omar Šerý
Paired box 9 (PAX9) is one of the best known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth, CMT) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia...
February 2, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28154314/effectiveness-of-x-ray-computed-microtomography-to-determine-structureproperty-relationships-of-gutta-percha
#11
Liudi Zhang, Christopher Joubert, George Bruder, Kai Yang, Alexa Aseel-Fine, Keith Jones, Miriam Rafailovich
We have shown that Computed Microtomography (CMT) is able to map the internal distribution of the filler particles in ProTaper(TM), Lexicon(TM), and GuttaCore(TM) materials, and explain the differences in their tensile and ductility properties, prior to mechanical manipulation. Working of uncrosslinked ProTaper™ and Lexicon(TM) samples resulted in a five-fold increase in ductility and the tensile elongation at break. CMT mapping of the internal structure showed that large, periodic, striations formed across the interior of the sample corresponding to the formation of regions with low filler particle density...
February 1, 2017: Dental Materials Journal
https://www.readbyqxmd.com/read/28153012/kinetic-stability-analysis-of-protein-assembly-on-the-center-manifold-around-the-critical-point
#12
Tatsuaki Tsuruyama
BACKGROUND: Non-linear kinetic analysis is a useful method for illustration of the dynamic behavior of cellular biological systems. To date, center manifold theory (CMT) has not been sufficiently applied for stability analysis of biological systems. The aim of this study is to demonstrate the application of CMT to kinetic analysis of protein assembly and disassembly, and to propose a novel framework for nonlinear multi-parametric analysis. We propose a protein assembly model with nonlinear kinetics provided by the fluctuation in monomer concentrations during their diffusion...
February 2, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28150469/targeting-canine-mammary-tumours-via-gold-nanoparticles-functionalized-with-promising-co-ii-and-zn-ii-compounds
#13
L R Raposo, C Roma-Rodrigues, J Jesus, L M D R S Martins, A J Pombeiro, P V Baptista, A R Fernandes
BACKGROUND: Despite continuous efforts, the treatment of canine cancer has still to deliver effective strategies. For example, traditional chemotherapy with doxorubicin and/or docetaxel does not significantly increase survival in dogs with canine mammary tumors (CMTs). AIMS: Evaluate the efficiency of two metal compounds [Zn(DION)2 ]Cl (TS262, DION = 1,10-phenanthroline-5,6-dione) and [CoCl(H2 O)(DION)2 ][BF4 ] (TS265) and novel nanovectorizations designed to improve the anti-cancer efficacy of these compounds in a new CMT derived cell line (FR37-CMT)...
February 2, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28148572/the-predictive-validity-of-a-situational-judgement-test-a-clinical-problem-solving-test-and-the-core-medical-training-selection-methods-for-performance-in-specialty-training%C3%A2
#14
Fiona Patterson, Safiatu Lopes, Stephen Harding, Emma Vaux, Liz Berkin, David Black
The aim of this study was to follow up a sample of physicians who began core medical training (CMT) in 2009. This paper examines the long-term validity of CMT and GP selection methods in predicting performance in the Membership of Royal College of Physicians (MRCP(UK)) examinations. We performed a longitudinal study, examining the extent to which the GP and CMT selection methods (T1) predict performance in the MRCP(UK) examinations (T2). A total of 2,569 applicants from 2008-09 who completed CMT and GP selection methods were included in the study...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28142164/efficacy-of-vitrectomy-combined-with-subretinal-rtpa-injection-with-gas-or-air-tamponade
#15
M Waizel, M G Todorova, A Rickmann, B R Blanke, P Szurman
Background Functional and anatomical outcome after vitrectomy with rtPA combined with gas or air tamponade. Patients and methods Retrospective analysis of pseudophakic patients treated with subretinal rtPA and gas or air tamponade. The primary endpoint was displacement of haemorrhage six months after surgery. The secondary endpoints were visual acuity (BCVA), haemorrhage diameter (MHD) and central macular thickness (CMT), as measured by SD-OCT. Results 53 of 85 eyes were pseudophakic. 27 of these eyes were treated with air tamponade and 26 with gas tamponade...
January 31, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28141749/thickness-of-the-macula-retinal-nerve-fiber-layer-and-ganglion-cell-inner-plexiform-layer-in-the-age-related-macular-degeneration-the-repeatability-study-of-spectral-domain-optical-coherence-tomography
#16
Il-Hwan Shin, Woo-Hyuk Lee, Jong-Joo Lee, Young-Joon Jo, Jung-Yeul Kim
PURPOSE: To determine the repeatability of measuring the thickness of the central macula, retinal nerve fiber layer, and ganglion cell-inner plexiform layer (GC-IPL) using spectral domain optical coherence tomography (Cirrus HD-OCT) in eyes with age-related macular degeneration. METHODS: One hundred and thirty-four eyes were included. The measurement repeatability was assessed by an experienced examiner who performed two consecutive measurements using a 512 × 128 macular cube scan and a 200 × 200 optic disk cube scan...
January 30, 2017: Retina
https://www.readbyqxmd.com/read/28132977/mitochondrial-trifunctional-protein-deficiency-an-adult-patient-with-similar-progress-to-charcot-marie-tooth-disease
#17
Yuki Yamamoto, Naoko Matsui, Yu Hiramatsu, Yoshimichi Miyazaki, Hiroyuki Nodera, Yuishin Izumi, Hiroshi Takashima, Ryuji Kaji
A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization...
January 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28131382/occurrence-of-canine-hemotropic-mycoplasmas-in-domestic-dogs-from-urban-and-rural-areas-of-the-valdivia-province-southern-chile
#18
Francisco Soto, Romina Walker, Maximiliano Sepulveda, Pedro Bittencourt, Gerardo Acosta-Jamett, Ananda Müller
This is the first study to investigate the occurrence, risk factors and hematological findings of hemoplasmas in dogs from Chile. Complete blood count and 16S rRNA conventional PCR for Mycoplasma spp. were performed in 278 blood samples from rural (n=139) and urban (n=139) dogs in Valdivia. Real time 16S rRNA PCR (qPCR) allowed species identification. Mycoplasma spp. occurrence was 24.8%. 'Candidatus M. haematoparvum' (CMhp) was identified in 12.2% and Mycoplasma haemocanis (Mhc) in 11.9% dogs. It was not possible to identify species in two Mycoplasma spp...
February 2017: Comparative Immunology, Microbiology and Infectious Diseases
https://www.readbyqxmd.com/read/28125980/effect-of-combined-music-and-touch-intervention-on-pain-response-and-%C3%AE-endorphin-and-cortisol-concentrations-in-late-preterm-infants
#19
Jie Qiu, Yun-Fei Jiang, Fang Li, Qian-Hong Tong, Hui Rong, Rui Cheng
BACKGROUND: Preterm neonates undergo many painful procedures as part of their standard care in the neonatal intensive care unit. However, pain treatment is inadequate in many of these routine procedures. In the present study, we investigated the impact and mechanism of combined music and touch intervention (CMT) on the pain response in premature infants. METHODS: Sixty-two preterm neonates (gestational age of <37 weeks) were randomly assigned to either the experimental or control group...
January 26, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28119292/intravitreal-ziv-aflibercept-for-the-treatment-of-choroidal-neovascularisation-associated-with-conditions-other-than-age-related-macular-degeneration
#20
Imoro Zeba Braimah, Michael Stewart, Chetan Videkar, Chintan J Dedhia, Jay Chhablani
AIM: To report the short-term outcomes of eyes with choroidal neovascularisation (CNV) associated with causes other than age-related macular degeneration (AMD) after treatment with intravitreal ziv-aflibercept (IVZ) injections. METHODS: This retrospective study included eyes with non-AMD-related CNV that were treated with IVZ (1.25 mg/0.05 mL) on a pro re nata basis. The primary outcome measure is the mean change in best-corrected visual acuity (BCVA) and secondary outcome measures include the mean change in central macular thickness (CMT) and adverse events...
January 24, 2017: British Journal of Ophthalmology
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