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Blepharospasm

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https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#1
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29716720/clinical-experience-with-patients-with-spasmodic-dysphonia-and-primary-meige-syndrome
#2
María Fernanda Pedrero-Escalas, Isabel García-López, Susana Santiago-Pérez, Francisco Vivancos, Javier Gavilán
INTRODUCTION: Meige syndrome (MS) is part of the group of segmental cranial dystonias, which affect more than two cranial muscle groups. Specifically, blepharospasm is associated with another cranial dystonia (oromandibular, cervical or laryngeal). The aim of this paper was to report our experience in patients with spasmodic dysphonia (SD) associated with primary MS. MATERIAL AND METHODS: A retrospective study involving 8 patients between May 2010 and June 2015...
April 28, 2018: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/29673578/diagnosis-of-primary-hemifacial-spasm
#3
J-P Lefaucheur, N Ben Daamer, S Sangla, C Le Guerinel
The diagnosis of primary hemifacial spasm (pHFS), due to a benign compression of the facial motor nerve by a vessel, within or close to its root exit zone, is often made with delay. Misdiagnosis includes psychogenic spasm, tics, facial myokymia or blepharospasm, but in fact post-facial palsy synkinesis (post-paralytic HFS) is the closest clinical condition, because it is limited to the territory of the facial nerve of a single hemiface. The differential diagnosis between these two entities, whose pathophysiological mechanisms are very different, can be made by electroneuromyographic (ENMG) examination...
April 16, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29648477/acute-intensive-care-unit-management-of-mustard-gas-victims-the-turkish-experience
#4
Ertugrul Kilic, Mesut Ortatatli, Sermet Sezigen, Rusen Koray Eyison, Levent Kenar
Sulfur mustard (SM) is an highly toxic and vesicant chemical weapon that was used in various military conflicts several times in the history. The severity of ocular, dermal, and pulmonary symptoms that may appear following a characteristic asymptomatic period are depending on the SM concentration and exposure duration. The aim of this study is to present the clinical features and share the intensive care unit (ICU) experiences for the medical management of mustard gas victims. Thirteen Free Syrian Army soldiers near Al-Bab region of North Syria were reportedly exposed to oily blackish smoke with garlic smell due to the explosion of a trapped bomb without causing any blast or thermal effect on 26th November 2016...
April 12, 2018: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/29573222/concise-review-altered-versus-unaltered-amniotic-membrane-as-a-substrate-for-limbal-epithelial-cells
#5
REVIEW
Tor Paaske Utheim, Øygunn Aass Utheim, Panagiotis Salvanos, Catherine J Jackson, Stefan Schrader, Gerd Geerling, Amer Sehic
Limbal stem cell deficiency (LSCD) can result from a variety of corneal disorders, including chemical and thermal burns, infections, and autoimmune diseases. The symptoms of LSCD may include irritation, epiphora, blepharospasms, photophobia, pain, and decreased vision. There are a number of treatment options, ranging from nonsurgical treatments for mild LSCD to various forms of surgery that involve different cell types cultured on various substrates. Ex vivo expansion of limbal epithelial cells (LEC) involves the culture of LEC harvested either from the patient, a living relative, or a cadaver on a substrate in the laboratory...
March 23, 2018: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29568690/altered-functional-connectivity-in-blepharospasm-orofacial-dystonia
#6
Angela Jochim, Yong Li, Gina Gora-Stahlberg, Tobias Mantel, Maria Berndt, Florian Castrop, Christian Dresel, Bernhard Haslinger
Introduction: Blepharospasm is characterized by involuntary eyelid spasms. It can be associated with perioral dystonia (Meige's syndrome or orofacial dystonia). We aimed at studying resting-state functional brain connectivity in these patients and its potential modulation by therapeutic botulinum toxin injections. Methods: We performed resting-state functional MRI and a region of interest-based analysis of functional connectivity in 13 patients with blepharospasm/Meige's syndrome in comparison to 13 healthy controls...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29520917/the-use-of-hyaluronic-acid-subdermal-filler-for-entropion-in-canines-and-felines-40-cases
#7
Jessica E McDonald, Amy M Knollinger
PURPOSE: To evaluate the use of hyaluronic acid (HA) subdermal filler in canines and felines for entropion. METHODS: Complete ophthalmologic examination was performed by a board-certified veterinary ophthalmologist or ABVO-approved resident. Each case was characterized as primary, secondary, spastic or cicatricial entropion. HA subdermal filler, specifically Restylane® and Restylane Silk® , were utilized in dogs and cats, respectively. Subdermal injection was performed 1-2 mm from the eyelid margin in the affected area until normal eyelid conformation was achieved...
March 9, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29517148/traumatic-phacocele-in-an-american-miniature-horse
#8
Kelly E Knickelbein, Mallory Stock, Sebastian E Carrasco, Christopher M Reilly, Mary E Lassaline
An 18-year-old American Miniature Horse mare was presented with a complaint of a scleral swelling affecting the right eye and a history of suspected trauma 6 weeks prior to evaluation. Clinical findings included severe blepharospasm, a bulbous swelling of the dorsotemporal bulbar conjunctiva, and phthisis bulbi. Ocular ultrasound was recommended but declined. Enucleation was elected for the blind, painful eye and was performed standing. Gross and histopathologic examinations of the globe were consistent with extrusion of the lens to the episcleral space, which is classified as a traumatic phacocele when associated with naturally occurring trauma...
March 8, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29503330/botulinum-toxin-in-movement-disorders
#9
REVIEW
Priyanka Tater, Sanjay Pandey
Botulinum toxin has gained immense popularity since its introduction for therapeutic use. It is used in a variety of movement disorders like hemi-facial spasm, focal dystonias like blepharospasm, cervical dystonia, oromandibular dystonia, limb dystonias. It is also being used in patients with tremors, tics and for a variety of indications in Parkinson's disease as well. There are eight subtypes of toxins available, but type A and B are the ones used in movement disorder clinics. The toxin mainly acts by inhibiting the release of acetylcholine at the neuromuscular junction and causing weakness...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29480513/-myths-and-evidence-on-the-use-of-botulinum-toxin-neuropharmacology-and-dystonia
#10
P J Garcia-Ruiz, P Sanz-Cartagena, J C Martinez-Castrillo, B Ares-Pensado, I Aviles-Olmos, M Blazquez-Estrada, S Fanjul-Arbos, J Garcia-Caldentey, J Gazulla, J Gutierrez-Garcia, B Huete-Anton, C Lucas-Rodenas, M R Luquin, I Martinez-Torres, P Medialdea-Natera, A Mendoza-Rodriguez, P Mir-Rivera, I J Posada, J Ruiz-Martinez, P Sanchez-Alonso, J M Trejo-Gabriel Y Galan, L Vela, J L Pena-Segura
INTRODUCTION: Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. AIM: To analyze and summarize different questions about the use of BTA in our clinical practice. DEVELOPMENT: A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia...
March 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29479902/sensitivity-of-diagnostic-tests-for-dry-eye-in-patients-with-blepharospasm
#11
Dubravka Biuk, Maja Vinković, Suzana Matić, Mario Bradvica, Egon Biuk, Tvrtka Benašić
The aim of the study was to evaluate diagnostic tests for keratoconjunctivitis sicca (Schirmer test, tear break-up time (TBUT) test, and corneal staining with fluorescein and lissamine green dye) in patients with blepharospasm. This prospective study included 60 female patients older than 40 with blepharospasm, divided into two groups according to clinical symptoms. For fluorescein test, the surface under the ROC curve was 1.0 with standard error (SE) 0 and 95% confidence interval (95% CI) 0.940-1.0; for Schirmer test, the surface under the ROC curve was 0...
September 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29478149/botulinum-toxin-treatment-of-movement-disorders
#12
REVIEW
Yasaman Safarpour, Bahman Jabbari
Botulinum neurotoxins (BoNTs) are now among the most widely used therapeutic agents in clinical medicine with indications applied to the fields of movement disorders, pain disorders, and autonomic dysfunction. In this literature review, the efficacy and utility of BoNTs in the field of movement disorders are assessed using the criteria of the Guideline Development Subcommittee of the American Academy of Neurology. The literature supports a level A efficacy (established) for BoNT therapy in cervical dystonia and a level B efficacy (probably effective) for blepharospasm, hemifacial spasm, laryngeal dystonia (spasmodic dysphonia), task-specific dystonias, essential tremor, and Parkinson rest tremor...
February 24, 2018: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29434122/spinocerebellar-ataxia-type-31-with-blepharospasm
#13
Sakiko Itaya, Zen Kobayashi, Kokoro Ozaki, Nozomu Sato, Yoshiyuki Numasawa, Kinya Ishikawa, Takanori Yokota, Hiroshi Matsuda, Shuzo Shintani
A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). SPECT with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29411487/technique-postoperative-complications-and-visual-outcomes-of-phacoemulsification-cataract-surgery-in-21-penguins-27-eyes-2011-2015
#14
Melanie L Church, Daniel R Priehs, Heidi Denis, Lara Croft, Stacy DiRocco, Michelle Davis
OBJECTIVE: To describe surgical technique, postoperative complications, and visual outcome in penguins after phacoemulsification lens extraction surgery. ANIMALS STUDIED: Twenty-one penguins (27 eyes) that had phacoemulsification from 2011 to 2015 at Animal Eye Associates. Species included are as follows: 14 southern Rockhopper (18 eyes, 66.6%), 4 Gentoo (4 eyes, 19%), 2 King (3 eyes, 9.5%), and 1 Chinstrap penguin (2 eyes, 4.8%). Eleven of the penguins were females, and 10 were males with average age at the time of surgery being 27...
February 6, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29408357/evidence-on-botulinum-toxin-in-selected-disorders
#15
Elina Zakin, David Simpson
Botulinum toxin (BoNT) is a neurotoxin produced by the bacteria Clostridium botulinum that has become widely used for various neurologic indications. The four toxin formulations currently available for use in the United States (approved by the Food and Drug Administration) are onabotulinumtoxinA (Botox® ), abobotulinumtoxinA (Dysport® ), incobotulinumtoxinA (Xeomin® ), and rimabotulinumtoxinB (Myobloc® ). While the FDA-approved labels indicate that potency conversions should not be done, literature supports relative dose equivalents of approximately 1:1:2-4:50-100, respectively...
June 1, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29407165/towards-flexible-and-tailored-botulinum-neurotoxin-dosing-regimens-for-focal-dystonia-and-spasticity-insights-from-recent-studies
#16
Jörg Wissel
Botulinum neurotoxin (BoNT) is an effective, well-tolerated, and well-established option for the treatment of dystonic and spastic movement disorders. However, a single approach does not suit all patients, even within one disease indication. The degree of flexibility in treatment protocols is determined by individual product licenses, which often lag behind real-world clinical experience. A number of patient/practitioner surveys conducted recently have highlighted a desire for greater flexibility than that currently approved, both in BoNT doses and in the intervals between consecutive doses...
June 1, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29405250/botulinum-toxin-a-review-of-the-mode-of-action-in-migraine
#17
REVIEW
T P Do, J Hvedstrup, H W Schytz
Botulinum toxin serotype A (BoNT/A) was originally used in neurology for the treatment of dystonia and blepharospasms, but is now clinically used worldwide for the treatment of chronic migraine. Still, the possible mode of action of BoNT/A in migraine is not fully known. However, the mode of action of BoNT/A has been investigated in experimental pain as well as migraine models, which may elucidate the underlying mechanisms in migraine. The aim of this study was to review studies on the possible mode of action of BoNT/A in relation to chronic migraine treatment...
May 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29376224/long-term-efficacy-of-botulinum-neurotoxin-a-treatment-for-essential-blepharospasm
#18
Seunghyun Lee, Sangrye Park, Helen Lew
PURPOSE: In the present study, we investigated the treatment efficacy and clinical outcomes of botulinum neurotoxin-A (BoNT-A) administered for longer than 5 years to patients with essential blepharospasm. METHODS: We retrospectively reviewed 19 patients (male : female = 8 : 11) diagnosed with essential blepharospasm between March 2006 and July 2016 who underwent BoNT-A injections for over 5 years and were followed. Efficacy of 297 injections of Botox (n = 162), Meditoxin (n = 75), Hugel-tox (n = 40), or Dysport (n = 20) was based on the symptom improvement score at the final injection (-1, worse; 0, same; 1, better)...
February 2018: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/29373869/-tarsal-kink-pathognomonic-presentation-and-therapy-of-a-rare-congenital-upper-eyelid-malformation
#19
Ulrich Schaudig, Matthias Keserü
BACKGROUND: Presentation of a congenital abnormality that is rare, but follows a distinct course and can be diagnosed and cured promptly if the pathognomonic presentation is recognized. A congenital tarsal kink leads to a malposition of the upper eyelid margin that must not be missed, as it will lead to ulcerative keratitis if it is not treated. CASE PRESENTATION: An otherwise healthy newborn was presented after delivery with forceps with marked unilateral purulent secretion and blepharospasm...
January 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29350600/long-term-outcome-of-pallidal-stimulation-for-meige-syndrome
#20
Shiro Horisawa, Taku Ochiai, Shinichi Goto, Takeshi Nakajima, Nobuhiko Takeda, Takakazu Kawamata, Takaomi Taira
OBJECTIVE Meige syndrome is characterized by blepharospasm and varied subphenotypes of craniocervical dystonia. Current literature on pallidal surgery for Meige syndrome is limited to case reports and a few small-scale studies. The authors investigated the clinical outcomes of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with Meige syndrome. METHODS Sixteen patients who underwent GPi DBS at the Tokyo Women's Medical University Hospital between 2002 and 2015 were included in this study...
January 19, 2018: Journal of Neurosurgery
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