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https://www.readbyqxmd.com/read/29160548/botulinum-toxin-for-treating-unilateral-apraxia-of-eyelid-opening-in-a-patient-with-congenital-myotonia
#1
Estrella Fernández, Marta Latasiewicz, Laura Pelegrin, Manuel Romera, Silvana Schellini, Alicia Galindo-Ferreiro
A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid...
September 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#2
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#3
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29145329/new-onset-of-myasthenia-gravis-after-intravesical-bacillus-calmette-guerin-a-case-report-and-literature-review
#4
Tsubasa Takizawa, Marenori Kojima, Shigeaki Suzuki, Takashi Osada, Satoshi Kitagawa, Jin Nakahara, Shinichi Takahashi, Norihiro Suzuki
RATIONALE: Recently, drug-related myasthenia gravis (MG) has received attention, because the number of reported cases involving MG associated with immune checkpoint inhibitors, a new immunotherapy, is increasing. We present a case involving the new onset of MG, in which the symptoms started shortly after intravesical Bacillus Calmette-Guerin (BCG) for bladder cancer. PATIENT CONCERNS: A 69-year-old male with bladder cancer developed ptosis and diplopia 4 days after the completion of a treatment regimen with intravesical BCG weekly for 6 weeks...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145322/ptosis-as-the-only-manifestation-of-diabetic-superior-division-oculomotor-nerve-palsy-a-case-report
#5
Ping-Yin Chou, Kun-Han Wu, Poyin Huang
RATIONALE: Diabetic oculomotor nerve palsies, also called ischemic third nerve palsies, are the most common etiologic subset of oculomotor nerve palsy in adults. Diabetic oculomotor nerve palsies typically present with ptosis and diplopia, but pupillary function is often spared. The oculomotor nerve separates into superior division and inferior division, with the superior division innervating the superior rectus and levator palpebrae superioris. The diabetic oculomotor nerve palsy may affect isolated superior or inferior division of the oculomotor nerve, but diplopia usually exists...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#6
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29134445/ptosis-and-bulbar-onset-an-unusual-phenotype-of-familial-als
#7
Fabiola De Marchi, L Corrado, E Bersano, M F Sarnelli, V Solara, S D'Alfonso, R Cantello, L Mazzini
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.
November 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29124373/-the-chignon-mastopexy-a-double-glandular-suspended-flaps-for-an-auto-augmentation-effect
#8
Bouraoui Kotti
BACKGROUND: Many mastopexy techniques have been described in the literature focusing on the new nipple areolar complex position and the breast deflation treatment, but only few of them detailed the glandular volume redistribution to avoid the use of implants. We describe a mastopexy procedure that brings the maximum of the volume to the central part of the breast. We compare the procedure to a "chignon" hair style way to vulgarize the technique and simplify its comprehension. METHODS: Breast volume is reshaped by the use of a vertical mastopexy and two deepithelized glandular flaps sutured for the first one to the pectoralis major fascia and for the second one to the contralateral flap...
November 9, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29118959/congenital-myasthenic-syndrome-due-to-dok7-mutations-in-a-family-from-chile
#9
Jorge A Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vázquez, Ricardo A Maselli
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29114305/frontal-mucocele-mimicking-a-frontal-subcutaneous-tumor
#10
Ellath Valappil Bijith, Shaju Mathew, Krishnaswamy Mahadevan
Mucoceles are chronic, expanding, mucosa lined pathology of the paranasal sinuses. Frontal mucocele usually presents with the visual complaints such as diplopia, diminution of vision, visual field defect, ptosis, orbital swelling, retro-orbital pain, displacement of eye globe, and proptosis. Very rarely, it can be present as a subcutaneous swelling. This article presents a 58-year-old male patient presenting with an asymptomatic periorbital swelling and a painless forehead mass of 3 years duration. There was a partial ptosis, and an elongated, soft, subcutaneous mass over the forehead...
October 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29111026/a-retrospective-study-of-acetylcholine-receptor-antibody-positive-ocular-myasthenia-in-the-west-of-scotland
#11
Maria E Farrugia, Marie Cleary, Caroline Carmichael
Ocular myasthenia is the milder end of the myasthenia gravis spectrum but treatment can be challenging especially in older patients. We retrospectively studied all patients on our database with ocular myasthenia (OMG), positive for acetylcholine receptor (AChR) antibodies. We identified 93 patients (64 men and 29 women). The mean age at disease onset was 63y, median 68y. Most (72%) experienced ptosis with diplopia; 19% experienced ptosis alone, while 7.5% complained of diplopia without ptosis. As expected, pyridostigmine was commenced early at diagnosis in the majority (69%) and 20% were still receiving pyridostigmine at final review...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29110125/-laser-assisted-blepharoplasty
#12
REVIEW
R Thiesmann
Blepharoplasty is one of the most frequently performed plastic cosmetic interventions. For this purpose the CO2 laser is an instrument that can be used as a laser scalpel to cut as well as in its ablative function to remove skin irregularities, such as scars and tumors and also to treat changes of the skin due to aging. Fractionated laser irradiation reduces the duration of skin redness and the postoperative rehabilitation time after a resurfacing. The advantages of the CO2 laser are a gentle intraoperative preparation and less postoperative swelling due to an additional cauterization of blood vessels...
November 6, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29110123/-acute-onset-of-ptosis-in-a-23-year-old-female-patient
#13
C Le Blanc, A C Rokohl, R S Grajewski, M Ortmann, K R Koch, L M Heindl
No abstract text is available yet for this article.
November 6, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29106437/does-increasing-the-dose-of-abobotulinumtoxina-impact-the-duration-of-effectiveness-for-the-treatment-of-moderate-to-severe-glabellar-lines
#14
John H Joseph, Laura L Eaton, James Robinson, Allison Pontius, Edwin F Williams Iii
OBJECTIVE: To evaluate the duration of effect of a single dose of 120 units of abobotulinumtoxinA for the treatment of moderate to severe glabellar lines. DESIGN: Investigator-initiated, prospective, multi-center, open-label study. MATERIAL AND METHODS: This open-label trial of thirty subjects with moderate to severe glabellar lines at maximum frown was per- formed at 2 private plastic surgery clinics. 120 units of abobotulinumtoxinA was injected in 5 equal aliquots (24 units each) into each of 5 injection sites in the glabellar complex...
December 1, 2016: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29098368/what-neurotoxins-have-taught-us-about-the-brow-the-reintroduction-and-review-of-the-transpalpebral-browpexy
#15
Michael Patrick Ogilvie, Julius Warren Few, Alec James Semersky, Natasha Tamagni Kulick, Mary Katherine Vorisek
INTRODUCTION: The use of neuromodulators has grown substantially in our society, particularly in the temporary treatment of brow ptosis. This study revisits the use of the transpalpebral browpexy for upper face and brow rejuvenation in the context of what has been learned from neuromodulators. METHODS: A retrospective review of 97 subjects was conducted who had transpalpebral browpexy performed for lateral brow ptosis. Qualitative degree of brow elevation after the procedure was determined by examining before and after photographs for each patient...
November 2, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29096852/therapeutic-plasma-exchange-in-a-rare-case-myasthenic-crisis-after-botox-injection
#16
Azita Chegini
BACKGROUND AND AIMS: Botulinum toxin (Botox) injections are used as a cosmetic treatment to decrease wrinkles in face and chin. Being a neurotoxic agent it minimizes muscle activity, while side effects are usually rare. This article subsequently presents one case of these rare effects. CASE: A 30-year-old woman presenting with ptosis, diplopia, dysarthria, dysphagia and muscle weakness was admitted to our hospital. She had no history of disease. For cosmetic reasons, she had three Botox injections during the preceding months...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096522/phenotypic-and-treatment-outcome-data-on-sunct-and-suna-including-a-randomised-placebo-controlled-trial
#17
Hsing-Yu Weng, Anna S Cohen, Christoph Schankin, Peter J Goadsby
Background Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) are two rare headache syndromes classified broadly as Trigeminal Autonomic Cephalalgias (TACs). Methods Here, 65 SUNCT (37 males) and 37 SUNA (18 males) patients were studied to describe their clinical manifestations and responses to treatment. Results Pain was almost always unilateral and side-locked...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29093409/myasthenic-crisis-complicated-with-myxedema-positive-for-both-anti-acetylcholine-receptor-and-anti-muscle-specific-tyrosine-kinase-antibodies-a-case-report
#18
Kazuhiro Horiuchi, Azusa Nagai, Masahiro Wakita, Shotaro Ito, Kei Takamura, Hideki Houzen
We herein report the case of myasthenic crisis occurring in a 51-year-old man. He had experienced ptosis, increased body weight with edema, and fatigue with dyspnea. He presented at our emergency department with disturbed consciousness. He was originally diagnosed with myxedema coma, and he required artificial respiration. Because his weakness persisted and he was positive for anti-acetylcholine receptor antibodies and anti-muscle-specific tyrosine kinase antibodies, we diagnosed myasthenic crisis after various examinations...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29090049/orbital-volume-augmentation-with-calcium-hydroxyapatite-filler-in-anophthalmic-enophthalmos
#19
Maryam Aletaha, Hossein Salour, Saied Yadegary, Yousef Fekri, Mehdi Tavakoli
PURPOSE: To report the long-term results of orbital volume augmentation using calcium hydroxyapatite filler injections in patients with anophthalmic sockets. METHODS: Twelve eligible patients with post-enucleation socket syndrome (PESS) and small orbital volumes were included in our study. In this investigation, 1.5 mL injectable calcium hydroxyapatite (Radiesse) was utilized in an off-label application under local anesthesia. We evaluated the effect of orbital volume augmentation for correction of enophthalmos...
October 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/29089738/spectrum-of-eye-disorders-seen-in-a-pediatric-eye-clinic-south-east-nigeria
#20
Eberechukwu O Achigbu, Ngozi C Oguego, Kingsley Achigbu
PURPOSE: This study aims to determine the prevalence, pattern, and time of presentation for the ocular disorders seen among children attending a pediatric eye clinic in Nigeria. MATERIALS AND METHODS: A retrospective chart review of all first-time patients at a pediatric eye clinic, within 2005-2007 was carried out. Data on cohort demographics, duration of illness before the presentation, and types of ocular disorders were collected and analyzed. Statistical significance was indicated by P < 0...
July 2017: Nigerian Journal of Surgery: Official Publication of the Nigerian Surgical Research Society
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