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https://www.readbyqxmd.com/read/28527386/gait-patterns-of-children-and-adolescents-with-charcot-marie-tooth-disease
#1
Elizabeth Wojciechowski, Amy Sman, Kayla Cornett, Jacqueline Raymond, Kathryn Refshauge, Manoj P Menezes, Joshua Burns
Gait abnormalities reported in childhood Charcot-Marie-Tooth disease (CMT) include foot-drop, reduced ankle power at push-off and increased knee and hip flexion for swing clearance ('steppage-gait'). The purpose of this study was to describe the gait patterns of 60 children aged 6-17 years with CMT (CMTall) and distinguish differences based on functional weakness using the CMT Pediatric Scale (CMTPedS). Data were captured using Vicon Nexus system and compared to 50 healthy norms. Data were subdivided into three groups denoting increasing severity of dorsiflexion and plantarflexion weakness from the CMTPedS: no difficulty heel or toe walking (CMTND), difficulty heel walking (CMTDH), difficulty toe and heel walking (CMTDTH)...
May 8, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28525976/the-adaptation-of-colorectal-cancer-cells-when-forming-metastases-in-the-liver-expression-of-associated-genes-and-pathways-in-a-mouse-model
#2
Derya Bocuk, Alexander Wolff, Petra Krause, Gabriela Salinas, Annalen Bleckmann, Christina Hackl, Tim Beissbarth, Sarah Koenig
BACKGROUND: Colorectal cancer (CRC) is the second leading cause of cancer-related death in men and women. Systemic disease with metastatic spread to distant sites such as the liver reduces the survival rate considerably. The aim of this study was to investigate the changes in gene expression that occur on invasion and expansion of CRC cells when forming metastases in the liver. METHODS: The livers of syngeneic C57BL/6NCrl mice were inoculated with 1 million CRC cells (CMT-93) via the portal vein, leading to the stable formation of metastases within 4 weeks...
May 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28520748/inflammation-related-microrna-expression-level-in-the-bovine-milk-is-affected-by-mastitis
#3
Yu-Chang Lai, Takuro Fujikawa, Tadashi Maemura, Takaaki Ando, Go Kitahara, Yasuyuki Endo, Osamu Yamato, Masateru Koiwa, Chikara Kubota, Naoki Miura
MicroRNA (miRNA) in tissue and liquid samples have been shown to be associated with many diseases including inflammation. We aimed to identify inflammation-related miRNA expression level in the bovine mastitis milk. Expression level of inflammation-related miRNA in milk from mastitis-affected and normal cows was analyzed using qPCR. We found that expression level of miR-21, miR-146a, miR-155, miR-222, and miR-383 was significantly upregulated in California mastitis test positive (CMT+) milk. We further analyzed these miRNA using a chip-based QuantStudio Digital PCR System...
2017: PloS One
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#4
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28504820/using-propensity-score-matching-to-evaluate-the-effect-of-complementary-medicine-on-clinical-and-embryologic-outcomes-of-in-vitro-fertilization
#5
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/28501821/genetic-and-clinical-characteristics-of-nefl-related-charcot-marie-tooth-disease
#6
Alejandro Horga, Matilde Laurà, Zane Jaunmuktane, Nivedita U Jerath, Michael A Gonzalez, James M Polke, Roy Poh, Julian C Blake, Yo-Tsen Liu, Sarah Wiethoff, Conceição Bettencourt, Michael Pt Lunn, Hadi Manji, Michael G Hanna, Henry Houlden, Sebastian Brandner, Stephan Züchner, Michael Shy, Mary M Reilly
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28501676/does-the-implementation-of-evidence-based-and-culturally-competent-practices-reduce-disparities-in-addiction-treatment-outcomes
#7
Erick G Guerrero, Bryan R Garner, Benjamin Cook, Yinfei Kong
RATIONALE: Research is limited on the extent to which implementation of evidence-based and culturally responsive practices reduces outcome disparities in substance use disorder treatment. We examined the role of contingency management treatment (CMT), medication-assisted treatment (MAT), and culturally competent practices on Mexican Americans' rate of successful completion of treatment. METHODS: We analyzed a concatenated dataset from 153 publicly funded substance use disorder treatment programs in Los Angeles County, California, in 2011 and 2013...
May 9, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/28500667/magnetic-resonance-neurography-and-diffusion-tensor-imaging-of-the-peripheral-nerves-in-patients-with-cmt-type-1a
#8
Michael Vaeggemose, Signe Vaeth, Mirko Pham, Steffen Ringgaard, Uffe B Jensen, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Henning Andersen
INTRODUCTION: Investigation of peripheral neuropathies by magnetic resonance neurography (MRN) may provide increased diagnostic accuracy when performed in combination with diffusion tensor imaging (DTI). The aim of this study was to evaluate DTI in the detection of neuropathic abnormalities in Charcot-Marie-Tooth-type-1A (CMT1A). METHODS: MR imaging of the sciatic and tibial nerves, including MRN and DTI, was prospectively performed in 15 CMT1A patients and 30 healthy-controls (HC)...
May 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28497317/role-of-radiation-therapy-in-the-treatment-of-hodgkin-lymphoma
#9
REVIEW
Victor J Gonzalez
Radiation therapy has historically been the pillar of curative treatment for Hodgkin lymphoma (HL). With improved efficacy of systemic therapy and the ever-increasing recognition of treatment-related morbidity in long-term survivors, the role of radiotherapy has evolved significantly. Modern combined modality therapy (CMT) with multi-agent chemotherapy followed by involved site radiation therapy (ISRT) to initially involved sites of disease remains the gold standard for the majority of patients with HL. Reduction of long-term treatment-related toxicity has become the major driver in clinical trial design for early-stage HL while improved disease-specific survival remains the goal in patients with more advanced and unfavorable disease...
May 11, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28496301/short-term-outcomes-in-patients-with-branch-retinal-vein-occlusion-who-received-intravitreal-aflibercept-with-or-without-intravitreal-ranibizumab
#10
Yoshihito Sakanishi, Ayumi Usui-Ouchi, Kazunori Tamaki, Keitaro Mashimo, Rei Ito, Nobuyuki Ebihara
PURPOSE: The purpose of this study was to determine the short-term outcomes for patients who received intravitreal aflibercept (IVA) with or without intravitreal ranibizumab (IVR) for macular edema (ME) due to branch retinal vein occlusion (BRVO). PATIENTS AND METHODS: Patients received IVA for ME due to BRVO. Patients who initially received IVA were defined as the treatment-naïve group and those who were switched from IVR to IVA after ME recurrence were defined as the switching group...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#11
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495045/deterioration-in-gait-and-functional-ambulation-in-children-and-adolescents-with-charcot-marie-tooth-disease-over-12-months
#12
Rachel Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Jennifer L McGinley
Children and adolescents with Charcot-Marie-Tooth disease (CMT) report problems with gait. Little is known about gait changes over time in children with this degenerative disease. This prospective longitudinal study investigated change in spatio-temporal gait parameters and functional ambulation. Two assessments were conducted 12 months apart. Assessments included: barefoot gait on an electronic walkway; functional ambulation with a six minute walk test and the Functional Mobility Scale; and disease severity with the CMT Pediatric Scale...
April 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28493438/deficient-activity-of-alanyl-trna-synthetase-underlies-an-autosomal-recessive-syndrome-of-progressive-microcephaly-hypomyelination-and-epileptic-encephalopathy
#13
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R Andriola, R Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J Barry, Jennifer N Partlow, A James Barkovich, Jiqiang Ling, Ganeshwaran H Mochida
Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth (CMT) disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. Here we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy and spasticity...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28463846/visual-outcomes-of-pars-plana-vitrectomy-with-epiretinal-membrane-peeling-in-patients-with-asteroid-hyalosis-a-matched-cohort-study
#14
Ali Mouna, Jean-Paul Berrod, Jean-Baptiste Conart
BACKGROUND: The study aimed to evaluate outcomes of epiretinal membrane (ERM) peeling in patients with asteroid hyalosis (AH) and to compare them with those from controls without AH. METHODS: This is a retrospective matched cohort study of 1,104 consecutive patients who underwent surgery for ERM between January 2004 and February 2014. Patients with AH were included in the study group and were matched for preoperative visual acuity, age, gender, date of surgery, and axial length with control patients without AH selected from the same cohort...
May 3, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28457232/the-evolution-of-chromomethylases-and-gene-body-dna-methylation-in-plants
#15
Adam J Bewick, Chad E Niederhuth, Lexiang Ji, Nicholas A Rohr, Patrick T Griffin, Jim Leebens-Mack, Robert J Schmitz
BACKGROUND: The evolution of gene body methylation (gbM), its origins, and its functional consequences are poorly understood. By pairing the largest collection of transcriptomes (>1000) and methylomes (77) across Viridiplantae, we provide novel insights into the evolution of gbM and its relationship to CHROMOMETHYLASE (CMT) proteins. RESULTS: CMTs are evolutionary conserved DNA methyltransferases in Viridiplantae. Duplication events gave rise to what are now referred to as CMT1, 2 and 3...
May 1, 2017: Genome Biology
https://www.readbyqxmd.com/read/28455519/calcium-sensing-receptor-antagonist-nps-2143-restores-amyloid-precursor-protein-physiological-non-amyloidogenic-processing-in-a%C3%AE-exposed-adult-human-astrocytes
#16
Anna Chiarini, Ubaldo Armato, Daisong Liu, Ilaria Dal Prà
Physiological non-amyloidogenic processing (NAP) of amyloid precursor holoprotein (hAPP) by α-secretases (e.g., ADAM10) extracellularly sheds neurotrophic/neuroprotective soluble (s)APPα and precludes amyloid-β peptides (Aβs) production via β-secretase amyloidogenic processing (AP). Evidence exists that Aβs interact with calcium-sensing receptors (CaSRs) in human astrocytes and neurons, driving the overrelease of toxic Aβ42/Aβ42-os (oligomers), which is completely blocked by CaSR antagonist (calcilytic) NPS 2143...
April 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#17
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28445194/successful-treatment-of-stable-vitiligo-by-low-density-cultured-autologous-melanocyte-transplantation-combined-with-narrowband-ultraviolet-b-therapy
#18
Lei Yao, Yuanyuan Liu, Yang Song, Shuxia Zhong, Shanshan Li
BACKGROUND: Cultured autologous melanocyte transplantation (CMT) is an effective treatment for stable vitiligo, but the current method is time consuming and expensive because of the requirement of a large number of melanocytes. OBJECTIVE: To assess the clinical effect of low-density CMT combined with narrowband ultraviolet B (NB-UVB) in treating stable vitiligo. MATERIALS AND METHODS: The authors treated 8 patients with CMT at a low cell density (less than 2...
April 24, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28441077/comparison-of-conbercept-with-ranibizumab-for-the-treatment-of-macular-edema-secondary-to-branch-retinal-vein-occlusion
#19
Fengjiao Li, Ming Sun, Jianlian Guo, Aihua Ma, Bojun Zhao
PURPOSE: To confirm the therapeutic efficacy of conbercept for the treatment of macular edema (ME) secondary to branch retinal vein occlusion (BRVO). METHODS: In this prospective, randomized, and comparative study, patients were randomized and divided into conbercept (n = 18) and ranibizumab (n = 17) groups. After an initial intravitreal injection of either conbercept or ranibizumab, a pro re nata (PRN) strategy was adopted based on loss of visual acuity (VA) or increase in central macular thickness (CMT)...
April 25, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28438772/severe-vincristine-induced-polyneuropathy-in-a-teenager-with-anaplastic-medulloblastoma-and-undiagnosed-charcot-marie-tooth-disease
#20
Yasmin Aghajan, Janet M Yoon, John Ross Crawford
Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis...
April 24, 2017: BMJ Case Reports
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