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https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#1
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334720/intravitreal-dexamethasone-implant-versus-intravitreal-ranibizumab-for-the-treatment-of-macular-edema-secondary-to-retinal-vein-occlusion-in-a-chinese-population
#2
Xiaoya Gu, Xiaobing Yu, Shuang Song, Hong Dai
BACKGROUND: The aim of this work was to compare the efficacy of intravitreal dexamethasone implant (Ozurdex) and intravitreal ranibizumab (Lucentis) in the treatment of macular edema (ME) caused by retinal vein occlusion (RVO). METHODS: Thirty-two ME cases treated with Ozurdex and 32 ME cases treated with ranibizumab were enrolled, with 26 central (C)RVO and 6 branch (B)RVO subjects in each group. We compared the results of best-corrected visual acuity (BCVA), central retinal thickness, number of injections, and intraocular pressure (IOP) at 1, 2, 3, and 6 months after injection...
March 24, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28332983/radical-cystectomy-compared-to-combined-modality-treatment-for-muscle-invasive-bladder-cancer-a-systematic-review-and-meta-analysis
#3
Vishal Vashistha, Hanzhang Wang, Andrew Mazzone, Michael A Liss, Robert S Svatek, Mary Schleicher, Dharam Kaushik
PURPOSE: To perform a comprehensive comparison of overall survival (OS), disease-specific survival (DSS), progression-free survival (PFS), and treatment-related complications between radical cystectomy (RC) and combined modality treatment (CMT-radiation therapy, concurrent chemotherapy, and maximal transurethral resection of bladder tumor) in the setting of muscle-invasive bladder cancer. METHODS AND MATERIALS: We searched 7 databases (PubMed, Scopus, EMBASE, Proquest, CINAHL, and ClinicalTrials...
April 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28332470/adult-onset-demyelinating-neuropathy-associated-with-fbln5-gene-mutation
#4
Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Xin Shi, Wei Liang, Yun Yuan
Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother...
March 23, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28322030/melatonin-and-il-25-modulate-apoptosis-and-angiogenesis-mediators-in-metastatic-cf-41-and-non-metastatic-cmt-u229-canine-mammary-tumour-cells
#5
G B Gelaleti, T F Borin, L B Maschio-Signorini, M G Moschetta, E Hellmén, A M Viloria-Petit, D A P C Zuccari
BACKGROUND: Melatonin has oncostatic actions and IL-25 is active in inflammatory processes that induce apoptosis in tumor cells AIM: The aim of this study was to evaluate melatonin and IL-25 in metastatic (CF-41) and non-metastatic (CMT-U229) canine mammary tumor cells cultured as monolayers and tridimensional structures. MATERIALS AND METHODS: The cells were treated with melatonin, IL-25 and IL-17B silencing gene and performed cell viability, gene and protein expression of caspase-3 and VEGFA (Vascular endothelial growth factor A) and an apoptosis membrane protein array...
March 20, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28318718/-treatment-of-macular-edema-comparison-of-efficacy-and-tolerability-of-subconjunctival-triamcinolone-injections-sub-tenon-s-triamcinolone-injections-and-intravitreal-dexamethasone-implant
#6
C Carbonnière, C Couret, A Blériot, O Lebreton, H Massé, G Le Meur, P Lebranchu, M Weber
The area of uveitis is related to numerous pathological entities. One of the main causes of decreased visual acuity in these patients is macular edema. One aspect of the treatment includes cortosteroids used peri- and intra-ocularly. MATERIALS AND METHODS: The goal of our work was to estimate the criteria of efficacy (on improvement in visual acuity and macular edema, as well as time to recurrence) and safety (on intraocular pressure and cataract) of these various routes of administration of corticosteroid after a single injection...
March 16, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28316835/clinical-characteristics-of-patients-with-newly-diagnosed-diabetic-macular-edema-in-turkey-a-real-life-registry-study-turk-dem
#7
Bora Eldem, Sengul Ozdek, Ali Osman Saatci, Emin Ozmert, Esat Ulay, Gulsah Nomak
Purpose. To evaluate the clinical and diagnostic characteristics of patients with newly diagnosed diabetic macular edema (DME) in Turkey in a real-life setting. Methods. A total of 945 consecutive patients (mean (SD) age: 61.3 (9.9) years, 55.2% male) with newly diagnosed DME were included. Data on patient demographics, comorbidities, ocular history, ophthalmic examination findings including type of DME, central macular thickness (CMT) via time domain (TD) and spectral domain (SD) optical coherence tomography (OCT), and planned treatments were recorded...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28315518/real-world-outcomes-of-anti-vegf-treatment-for-retinal-vein-occlusion-in-portugal
#8
Sara Vaz-Pereira, Inês P Marques, João Matias, Filipe Mira, Lígia Ribeiro, Rita Flores
PURPOSE: Retinal vein occlusion (RVO) is an important cause of visual disability in the modern world. We aim to evaluate the real-world outcomes of patients with RVO treated with anti-vascular endothelial growth factor (VEGF) in Portugal. METHODS: We performed a retrospective, observational, multicenter study including 8 centers across Portugal and 200 patients treated with either ranibizumab or bevacizumab. Data were collected at 3 time points: time of diagnosis (0 time point) and 6 and 12 months after initiating treatment...
February 28, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28314834/internal-limiting-membrane-peeling-or-not-a-systematic-review-and-meta-analysis-of-idiopathic-macular-pucker-surgery
#9
Xiao-Ling Fang, Yao Tong, Ya-Li Zhou, Pei-Quan Zhao, Zhao-Yang Wang
PURPOSE: To determine whether internal limiting membrane (ILM) peeling improves anatomical and functional outcomes in idiopathic macular pucker (IMP)/epiretinal membrane (ERM) surgery in this systematic review and meta-analysis. METHODS: We searched the PubMed, Medline, Web of Science, Cochrane, Ovid MEDLINE, ClinicalTrials.gov and CNKI databases for studies published before 15 September 2016. The eligibility criteria included studies comparing ILM peeling versus no-peeling for IMP surgery...
March 17, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28286897/charcot-marie-tooth-disease-genetic-subtypes-in-the-sardinian-population
#10
Lorefice Lorena, Murru M Rita, Coghe Giancarlo, Fenu Giuseppe, Corongiu Daniela, Frau Jessica, Tranquilli Stefania, Tacconi Paolo, Vannelli Alessandro, Marrosu Giovanni, Mamusa Elena, Cocco Eleonora, Marrosu M Giovanna
Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7...
March 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28285597/prevalence-study-and-risk-factor-analysis-of-selected-bacterial-protozoal-and-viral-including-vector-borne-pathogens-in-cats-from-cyprus
#11
Charalampos Attipa, Kostas Papasouliotis, Laia Solano-Gallego, Gad Baneth, Yaarit Nachum-Biala, Elpida Sarvani, Toby G Knowles, Sena Mengi, David Morris, Chris Helps, Séverine Tasker
BACKGROUND: Feline infectious agent studies are lacking in Cyprus. The aims of this study were to determine the prevalence and risk factors for various feline infectious agents, including feline vector-borne pathogens (FVBP), in cats from Cyprus. METHODS: A cross-sectional, descriptive, multicentre study was performed on 174 feline samples [138 owned and 36 shelter-feral, including both healthy (43) and non-healthy (131), cats] from private veterinary clinics from all six districts of Cyprus...
March 13, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28283593/mutations-in-noncoding-regions-of-gjb1-are-a-major-cause-of-x-linked-cmt
#12
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laura, Julian C Blake, Roy Poh, James Polke, Henry Houlden, Mary M Reilly
OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). METHODS: Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3' untranslated region (UTR) sequence in patients in whom mutations in the coding region had been excluded...
March 10, 2017: Neurology
https://www.readbyqxmd.com/read/28281038/effect-of-intramammary-infusion-of-recombinant-bovine-gm-csf-and-il-8-on-cmt-score-somatic-cell-count-and-milk-mononuclear-cell-populations-in-holstein-cows-with-staphylococcus-aureus-subclinical-mastitis
#13
Yoshio Kiku, Tomomi Ozawa, Hideyuki Takahashi, Shiro Kushibiki, Shigeki Inumaru, Hiroyuki Shingu, Yuya Nagasawa, Atsushi Watanabe, Eiji Hata, Tomohito Hayashi
The effect of intramammary infusion of recombinant bovine granulocyte-macrophage colony-stimulating factor (rbGM-CSF) and interleukin-8 (rbIL-8) on mononuclear cell populations in quarters, somatic cell count (SCC) and the California Mastitis Test (CMT) score were investigated. From the selected cows with naturally occurring Staphylococcus aureus subclinical mastitis, one quarter of each cow were selected for the infusions of rbGM-CSF (400 μg/5 mL/quarter, n = 9), rbIL-8 (1 mg/5 mL/quarter, n = 9), and phosphate-buffered saline (5 mL/quarter, n = 7)...
March 9, 2017: Veterinary Research Communications
https://www.readbyqxmd.com/read/28271089/total-knee-arthroplasty-in-severe-unstable-knee-case-report-and-literature-review
#14
Mohammad Naghi Tahmasebi, Gholamreza Ghorbani Amjad, Mohammad Hassan Kaseb, Kaveh Bashti
Multiplanar or global laxity in arthritic knee is rare, most of this patients have neuromuscular disorder (post poliomyelitis, spinal dystrophy) or history of knee trauma. Ligament insufficiency and severe bone loss is significant in this patient. The estimated prevalence for the concurrence of charcot marie-tooth (CMT) with myasthenia gravis (MG) suggests an extremely rare event. We have presented a 54-year-old female patient with CMT and MG complaining of progressive pain, swelling, and crepitation of the knee joints who had been undergone total knee arthroplasty (TKA) with rotating hinge prosthesis...
January 2017: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/28270488/aqueous-cytokine-and-growth-factor-levels-indicate-response-to-ranibizumab-for-diabetic-macular-oedema
#15
Masahiko Shimura, Kanako Yasuda, Ryosuke Motohashi, Osamu Kotake, Hidetaka Noma
BACKGROUND/AIMS: To investigate the relations between aqueous humour levels of cytokines/growth factors and treatment response to intravitreal ranibizumab (IVR) for diabetic macular oedema (DME) METHODS: Sixty-eight eyes of 68 patients with treatment-naïve centre-involved DME, central macular thickness (CMT) greater than 400 μm and visual acuity (VA) worse than logMAR 0.3 were recruited. Each patient received monthly IVR injection (0.5 mg/0.05 mL) until CMT was reduced to below 300 μm...
March 7, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28270485/long-term-safety-and-efficacy-of-ziv-aflibercept-in-retinal-diseases
#16
Ahmad M Mansour, Mohammed Ashraf, Chintan J Dedhia, Abdulrazzak Charbaji, Ahmed A R Souka, Jay Chhablani
AIMS: To investigate the long-term safety of intravitreal ziv-aflibercept in eyes receiving six or more intravitreal injections of ziv-aflibercept, an off-label substitute to the approved aflibercept. METHODS: Consecutive patients with retinal disease receiving six or more of intravitreal 0.05 mL ziv-aflibercept (1.25 mg) injections were followed monthly in three centres. Outcome measures were best-corrected visual acuity (BCVA) (logarithm of the minimum angle of resolution (logMar)) and central macular thickness (CMT) on spectral domain optical coherence tomography and monitoring for ocular inflammation, progression of lens opacities and intraocular pressure rise...
March 7, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28268238/role-of-chemically-modified-tetracyclines-in-the-management-of-periodontal-diseases-a-review
#17
Archit A Ghangurde, Kiran Kumar Ganji, Manohar L Bhongade, Bhumika Sehdev
Researchers have found that Chemically Modified Tetracyclines (CMTs) act through multiple mechanisms, affecting several parameters of osteoclast function and consequently inhibit bone resorption by altering intracellular calcium concentration and interacting with the putative calcium receptor; decreasing ruffled border area; diminishing acid production; diminishing the secretion of lysosomal cysteine proteinases (cathepsins); inducing cell retraction by affecting podosomes; inhibiting osteoclast gelatinase activity; selectively inhibiting osteoclast ontogeny or development; and inducing apoptosis or programmed cell death of osteoclasts...
March 7, 2017: Drug Research
https://www.readbyqxmd.com/read/28264542/a-case-series-study-on-the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#18
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is CMT1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the Literature is still poor of evidences on this subject...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28263726/prevalence-and-predictors-of-breastfeeding-after-childhood-abuse
#19
Meghan Eagen-Torkko, Lisa Kane Low, Ruth Zielinski, Julia S Seng
OBJECTIVE: To describe the prevalence and predictors of breastfeeding intent and outcomes in women with histories of childhood maltreatment trauma (CMT), including those with posttraumatic stress disorder (PTSD). DESIGN: Secondary analysis of a prospective observational cohort study of the effects of PTSD on perinatal outcomes. SETTING: Prenatal clinics in three health systems in the Midwestern United States. PARTICIPANTS: Women older than 18 years expecting their first infants, comprising three groups: women who experienced CMT but did not have PTSD (CMT-resilient), women with a history of CMT and PTSD (CMT-PTSD), and women with no history of CMT (CMT-nonexposed)...
March 2, 2017: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
https://www.readbyqxmd.com/read/28260856/measurement-of-peripapillary-retinal-nerve-fiber-layer-thickness-and-macular-thickness-in-anisometropia-using-spectral-domain-optical-coherence-tomography-a-prospective-study
#20
Neha Singh, Jolly Rohatgi, Ved Prakash Gupta, Vinod Kumar
PURPOSE: To study whether there is a difference in central macular thickness (CMT) and peripapillary retinal nerve fiber layer (RNFL) thickness between the two eyes of individuals having anisometropia >1 diopter (D) using spectral domain optical coherence tomography (OCT). MATERIAL AND METHODS: One hundred and one subjects, 31 with myopic anisometropia, 28 with astigmatic anisometropia, and 42 with hypermetropic anisometropia, were enrolled in the study. After informed consent, detailed ophthalmological examination was performed for every patient including cycloplegic refraction, best corrected visual acuity, slit lamp, and fundus examination...
2017: Clinical Ophthalmology
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