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https://www.readbyqxmd.com/read/29153916/a-case-with-cmtx1-disease-showing-transient-ischemic-attack-like-episodes
#1
Zehra Aktan, Nihan Hande Akcakaya, Pinar Tekturk, Engin Deniz, Bahar Koyuncu, Zuhal Yapici
Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents...
November 9, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29151433/role-of-strategic-human-resource-management-in-crisis-management-in-australian-greenfield-hospital-sites-a-crisis-management-theory-perspective
#2
Madeleine Iris Kendrick, Timothy Bartram, Jillian Cavanagh, John Burgess
Objective This study examined strategic human resource management (SHRM) activities in two case hospitals relative to their approach to greenfield site success.Methods A comparative case study analysis approach was used, with documents sourced from public, open-access sites. The theoretical framework of crisis management theory's (CMT) proactive management and open communication channels was used to examine the documents, which were annual reports addressing both hospitals' first year of performance, union publications and transcripts of relevant parliamentary inquiries...
November 20, 2017: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/29142567/outcomes-of-intravitreal-bevacizumab-and-macular-photocoagulation-for-treatment-of-diabetic-macular-edema-in-a-tertiary-care-eye-hospital-karachi
#3
Adil Salim Jafri, Aziz-Ur-Rehman, Abdul Haleem Mirani, Saleh Memon
Objective: To study the outcomes of intravitreal injection of Bevacizumab and laser photocoagulation in the treatment of diabetic macular edema (DME). Methods: Seventy-two eyes of 59 patients with diabetic macular edema were divided into two groups of 41 eyes (Group-A) and 31 eyes (Group-B). Subjects in group-A were treated with three intravitreal injections of Bevacizumab (IVB), and that of group-B with macular photocoagulation. Duration of study was 9 months. Follow up pattern for both groups was1, 2, 3 and 6 months...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29140735/factors-associated-with-visual-acuity-in-patients-with-cystoid-macular-oedema-and-retinitis-pigmentosa
#4
Gerald Liew, Anthony T Moore, Patrick D Bradley, Andrew R Webster, Michel Michaelides
PURPOSE: Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials. METHODS: We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012...
November 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/29136549/the-spectrum-of-charcot-marie-tooth-disease-due-to-myelin-protein-zero-an-electrodiagnostic-nerve-ultrasound-and-histological-study
#5
Gian Maria Fabrizi, Stefano Tamburin, Tiziana Cavallaro, Ilaria Cabrini, Moreno Ferrarini, Federica Taioli, Francesca Magrinelli, Giampietro Zanette
OBJECTIVE: Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology. METHODS: We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy. RESULTS: According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as "demyelinating" CMT1B, 17 as "axonal" CMT2I/J, and 10 as dominant "intermediate" CMTDID...
October 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29135478/contralateral-involvement-of-congenital-muscular-torticollis-and-clavicular-fracture
#6
Shin-Young Yim, Kihong Chang, Ah-Reum Ahn, Eun Ji Park, Jongwoo Kim
Congenital muscular torticollis (CMT) is known to concur with some conditions such as developmental dysplasia of the hip or brachial plexus injury, which gives us some insights for pathogenesis of CMT. While clavicular fracture is the most common fracture in newborns, little is known about concurrence of CMT and clavicular fracture. Our clinical experience led us to realize that concurrence of CMT and clavicular fracture tended to occur on the contralateral side for each other rather than the ipsilateral side...
November 10, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29134182/high-dose-2-5-mg-intravitreal-bevacizumab-as-rescue-therapy-for-persistent-postradiation-cystoid-macular-edema
#7
Mohammed Ali Khan, Arman Mashayekhi, Kyle Ferguson, Jerry A Shields, Carol L Shields
Background/Aims: To investigate the efficacy of intravitreal high-dose (2.5 mg/0.1 mL) bevacizumab as rescue therapy for postradiation cystoid macular edema (CME) resistant to standard-dose (1.25 mg/0.05 mL) bevacizumab. Methods: Retrospective, interventional case series. Results: Fifteen eyes of 15 patients were included. Eyes were treated with a mean of 10 standard-dose (1.25 mg) bevacizumab injections but failed to show CME resolution. Following 3 monthly treatments of high-dose (2...
September 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29133339/decreased-ceramide-underlies-mitochondrial-dysfunction-in-charcot-marie-tooth-2f
#8
Nicholas U Schwartz, Ryan W Linzer, Jean-Philip Truman, Mikhail Gurevich, Yusuf A Hannun, Can E Senkal, Lina M Obeid
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurologic disorder, but its molecular mechanisms remain unclear. One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27). As bioactive sphingolipids have been implicated in neurodegenerative diseases, we sought to determine if their dysregulation is involved in CMT. Here, we show that Hsp27 knockout mice demonstrated decreases in ceramide in peripheral nerve tissue and that the disease-associated Hsp27 S135F mutant demonstrated decreases in mitochondrial ceramide...
November 13, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29130753/in-vitro-and-in-vivo-evaluation-of-controlled-release-matrix-tablets-of-highly-water-soluble-drug-applying-different-mw-polyethylene-oxides-peo-as-retardants
#9
Haoyang Wen, Xue Li, Yuenan Li, Haiying Wang, Wang Yanyan, Wang Tuanjie, Weisan Pan, Xinggang Yang
The aim of the work presented is to prepare a controlled-release hydrophilic matrix tablet (CMT) controlling release of highly water-soluble drug applying pure combination of high and low Mw PEO as matrix materials, to avoid the lag time of drug release, and to overcome incomplete release in later stages. The influences of types and amounts of different Mw PEOs used, drug loading, pH of release medium and agitation rate on drug release were evaluated. The study of uptake and erosion of matrix was conducted and mechanism of improving drug release was discussed...
November 13, 2017: Drug Development and Industrial Pharmacy
https://www.readbyqxmd.com/read/29127354/clinical-and-molecular-characterization-of-pmp22-point-mutations-in-taiwanese-patients-with-inherited-neuropathy
#10
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee
Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121365/irvine-gass-macular-edema-responding-to-the-combination-of-oral-mineralocorticoid-receptor-antagonist-with-dexamethasone-drops
#11
Alexandre Matet, Alejandra Daruich, Francine Behar-Cohen
Long-lasting postoperative macular edema is a therapeutic challenge. The authors report an efficient combination therapy of oral mineralocorticoid receptor antagonists (eplerenone [Inspra; Pfizer, New York City, NY] or spironolactone, 25 mg/day to 50 mg/day) and topical dexamethasone (four times/day and progressive dose tapering) in three refractory cases following complex cataract or retinal detachment surgery. In Case 1, central macular thickness (CMT) decreased from 523 μm to 214 μm and visual acuity (VA) improved from 20/200 to 20/50 during a 6-month period...
November 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29121036/correlation-based-analysis-of-semg-signals-during-complex-muscle-activity-feasibility-study-of-new-methodology
#12
Michał Nowakowski, Paulina Trybek, Łukasz Machura
Assessment of complex motor task (CMT) competency is still very prone to bias. Objective assessment is based either on outcomes leaving the process out of the equitation or on checklists with all their limitations. We tested the hypothesis that muscular recruitment patterns assessed with surface Electromyography (sEMG) will be different between novices and skilled trainees. sEMG signals of the muscles that potentially are characterized by the highest level of engagement at complex motor task were submitted to comprehensive correlation analysis...
2017: Folia Medica Cracoviensia
https://www.readbyqxmd.com/read/29120248/the-evaluation-of-anatomic-and-functional-changes-in-unilateral-moderate-amblyopic-eyes-using-optical-coherence-tomography-and-pupil-cycle-time
#13
Tuncay Kusbeci, Omer Karti, Eyyup Karahan, Mustafa Oguztoreli
PURPOSE: To investigate whether macular anatomic structure and afferent visual system function differ among amblyopic eyes, non-amblyopic fellow eyes, and controls, using spectral-domain optical coherence tomography (SD-OCT), and pupil cycle time (PCT). METHODS: This observational, cross-sectional study included 30 patients with unilateral amblyopia and 30 healthy subjects. Optical coherence tomography (OCT) and pupil cycle time (PCT) were used to evaluate patients with unilateral amblyopia and were compared with their non-amblyopic fellow eyes and age- and gender-matched healthy eyes (30 participants)...
November 9, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29119052/synergistic-anticancer-activity-of-a-novel-oral-chemotherapeutic-agent-containing-trifluridine-and-tipiracil-in-combination-with-anti-pd-1-blockade-in-microsatellite-stable-type-murine-colorectal-cancer-cells
#14
Norihiko Suzuki, Hiroshi Tsukihara, Fumio Nakagawa, Takashi Kobunai, Teiji Takechi
Trifluridine/tipiracil (FTD/TPI) is a combination of FTD, an antineoplastic thymidine-based nucleoside analog, and TPI, which acts to enhance the bioavailability of FTD in vivo. It is used to treat patients with unresectable advanced or recurrent colorectal cancer that is refractory to standard therapies. We investigated the anticancer activity of FTD/TPI combined with anti-mouse programed cell death 1 (PD-1) monoclonal antibody (mAb) against CMT-93 cells, which are microsatellite stable (MSS)-type murine colorectal cancer cells...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29111421/substitution-impact-of-highly-conserved-arginine-residue-at-position-75-in-gjb1-gene-in-association-with-x-linked-charcot-marie-tooth-disease-a-computational-study
#15
Ashish Kumar Agrahari, Amit Kumar, Siva R, Hatem Zayed, George Priya Doss C
X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell abnormalities and peripheral neuropathy. CMTX1 is considered as the second most common form of CMT disease. The aim of this study is to computationally predict the potential impact of different single amino acid substitutions at position 75 of Cx32, from arginine (R) to proline (P), glutamine (Q) and tryptophan (W)...
October 28, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29109896/outcomes-of-intravitreal-dexamethasone-implant-in-the-treatment-of-recalcitrant-diabetic-macular-edema
#16
Dorukcan Akıncıoğlu, Murat Küçükevcilioğlu, Ali Hakan Durukan, Seçkin Aykaş, Önder Ayyıldız, Fazıl Cüneyt Erdurman
Objectives: To investigate the efficacy and safety of intravitreal dexamethasone (OZURDEX®) implantation in patients with recalcitrant diabetic macular edema. Materials and Methods: This is a retrospective non-randomized study of patients who underwent intravitreal dexamethasone implantation for recalcitrant diabetic macular edema. Main outcome measures included changes in best corrected visual acuity (BCVA), central macular thickness (CMT), and incidence of ocular side effects...
October 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29101144/charcot-marie-tooth-disease-in-denmark-a-nationwide-register-based-study-of-mortality-prevalence-and-incidence
#17
Signe Vaeth, Michael Vaeth, Henning Andersen, Rikke Christensen, Uffe Birk Jensen
OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark. DESIGN: We used the Danish National Patient Registry to select all records with primary diagnostic codes for CMT between 1977 and 2012 given at a neurological, neurophysiological, paediatric or clinical genetic clinic...
November 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29095325/charcot-marie-tooth-disease-1x-simulating-paraparetic-guillain-barre-syndrome
#18
Dimitrios Parissis, Panagiotis Ioannidis, Georgios Papadopoulos, Dimitrios Karacostas
X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropathy. It is established that patients suffering from CMT 1X can have episodes of hemiparesis, paraparesis, quadriparesis, ataxia, aphasia, and dysarthria, which can be fully reversible, and 'trigger' factors for these episodes are usually febrile illness, high altitudes, hyperventilation, and physical activity. We describe a 22-year-old patient with a history of viral infection and sleep deprivation who presented to our department because of acute difficulty in walking and neurophysiological findings suggesting Guillain-Barre syndrome...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29089356/spironolactone-versus-observation-in-the-treatment-of-acute-central-serous-chorioretinopathy
#19
Xinghong Sun, Yuanlu Shuai, Wangyi Fang, Jia Li, Weizhong Ge, Songtao Yuan, Qinghuai Liu
PURPOSE: To evaluate the efficacy of oral spironolactone in patients with acute central serous chorioretinopathy (CSC). METHODS: This is a prospective, randomised controlled clinical study. Thirty patients with acute CSC were the participants, including 18 patients who were treated with spironolactone (40 mg orally, twice daily) for 2 months in the experimental group and 12 patients who received observation in the control group. Main outcome measures included the proportion of eyes achieving complete resolution of subretinal fluid (SRF), changes in central macular thickness (CMT), the height of SRF (SRFH), best corrected visual acuity (BCVA) and subfoveal choroidal thickness (SFCT)...
October 31, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29082448/aflibercept-in-diabetic-macular-edema-refractory-to-previous-bevacizumab-outcomes-and-predictors-of-success
#20
Rita Laiginhas, Marta Inês Silva, Vitor Rosas, Susana Penas, Vitor Adriano Fernandes, Amândio Rocha-Sousa, Ângela Carneiro, Fernando Falcão-Reis, Manuel Sousa Falcão
PURPOSE: To evaluate functional and anatomical outcomes after aflibercept in patients with diabetic macular edema (DME) with poor response to bevacizumab. METHODS: We retrospectively reviewed patients with DME recalcitrant to bevacizumab who were switched to aflibercept between January and December 2015. All patients had a minimal follow-up of three months before the conversion and underwent at least three injections of bevacizumab. Functional outcome consisted in best corrected visual acuity (VA)...
October 29, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
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