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Alicia Galindo-Ferreiro, Patricia Akaishi, Somaya Hanafi, Rajiv Khandekar, Alberto Galvez-Ruiz, Silvana Schellini, Augusto Cruz
PURPOSE: To compare outcomes of two techniques of frontalis silicone sling surgery. METHODS: This retrospective, nonrandomized chart review was performed on patients undergoing frontalis sling surgery between 2008 and 2011. Silicone rods were sutured to the tarsal plate through an eyelid crease incision (open method) or stab incisions (closed method). Data were collected on age, gender, type of surgery, preoperative and postoperative margin reflex distance (MRD), and complications...
October 25, 2016: Journal of Pediatric Ophthalmology and Strabismus
Carlo D'Aniello, Roberto Cuomo, Luca Grimaldi, Cesare Brandi, Andrea Sisti, Juri Tassinari, Giuseppe Nisi
BACKGROUND: After considerable weight loss, the breast suffers significant deformation. The ptotic breast is characterized by a lack of superior pole, tissue excess in the inferior pole, down-migration of nipple-areola complex (NAC) with redundancy to skin tissue. The authors describe a mastopexy technique based on a modulated and progressive reshaping, back rotation, and suspension of mammary gland parenchyma without parenchymal incisions. METHODS: Forty-five patients with bilateral moderate or severe breast ptosis underwent mastopexy from January 2011 to January 2014 with complete detachment of breast from the pectoralis major muscle and the plication line of parenchyma without any parenchymal incision...
October 26, 2016: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
A Camós-Carreras, S Fontana, S Ortiz-Pérez
Horner's syndrome (HS) occurs when there is disruption to the oculosympathetic pathway. Its features include eyelid ptosis, miosis and anhidrosis. The aetiology of this syndrome is varied and includes tumours, trauma, vascular disease and iatrogenic. Different pharmacologic tests are used for diagnosis, such as cocaine, hydroxyamphetamine and apraclonidine; while neuroimaging helps elucidating the aetiology. We present a case of a 63-year-old female referred to our service with a 4-month history of right eyelid ptosis...
October 20, 2016: Semergen
J M Koshy, S Mohan, D Deodhar, M John, A Oberoi, A Pannu
BACKGROUND: Though cryptococcal meningitis (CM) is recognized as a disease of the immunocompromised, studies have implicated that it also affect immunocompetent patients. METHODOLOGY: This was a cross sectional study conducted in the Department of Medicine of a tertiary teaching institution in North India. All the patients diagnosed with CM on the basis of detection of cryptococcal antigen or the presence of capsulated budding yeast cells on India ink preparation, from April 2009 to March2015 were included in the study...
October 2016: Journal of the Association of Physicians of India
A Schilimow, B Wiechens
In this article, a case of recurrent epithelial defects in neurotrophic keratopathy is described. Multiple abrasions of the corneal epithelium with a therapeutic contact lens, corneal stitches, and amniotic membrane transplantation in combination with artificial tears brought only short-term success. However, a botulinum toxin A induced protective ptosis could finally achieve permanent epithelial closure. As this case shows, protective ptosis can be a promising approach in spite of multiple previous ineffective therapeutic efforts...
October 20, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Elizabeth J Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
INTRODUCTION: RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing (NGS)-based panels have widespread acceptance as a diagnostic tool for RASopathies. MATERIALS AND METHODS: The first 126 patients evaluated by clinical examination and the NGS RASopathy panel at the Children's Hospital of Philadelphia were enrolled. We calculated diagnosis rate, correlated reported clinical findings with positive or negative test results, and identified final molecular diagnoses in 28/96 patients who tested negative for RASopathies...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Darren Yap, Hannah Fox, Julia Addams-Williams
Neurofibroma is a slow growing benign tumour of the peripheral nerve sheath which is frequently associated with neurofibromatosis type 1 (Prakash et al., 2014). Isolated solitary occurrence of neurofibroma in the maxillary sinus is rare with only 29 reported cases in the literature. We present a rare case of a 70-year-old gentleman who was referred to ENT with a right maxillary sinus neurofibroma with extension into the right inferior orbit. He has significant proptosis, ptosis, and limitation in abduction of the right eye...
2016: Case Reports in Pathology
Y Cui, B Li, T Chen, Y Zhao, D M Li
Objective: To study the clinical and pathological features and surgical outcome of eyelid/conjunctival amyloidosis. Methods: It was a retrospective case series study. The clinical and pathological records of 11 patients who were diagnosed as eyelid/conjunctival amyloidosis and had surgical treatment between February 2007 and October 2015 at Beijing Tongren Hospital were analyzed. Routine pathological examinations and Congo red staining were performed. All of the 11 patients received surgical treatment. Seven patients with ptosis underwent surgical excision and ptosis repair...
October 11, 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Euna B Koo, Aubrey L Gilbert, Deborah K VanderVeen
PURPOSE: Amblyopia is a leading cause of low vision and warrants timely management during childhood. We performed a literature review of the management of amblyopia and potential risk factors for amblyopia. METHODS: Literature review of the management of amblyopia and risk factors for amblyopia. RESULTS: Common amblyopia risk factors include anisometropic or high refractive error, strabismus, cataract, and ptosis. Often a conservative approach with spectacles is enough to prevent amblyopia...
October 17, 2016: Seminars in Ophthalmology
Francesco Demaria, Franco De Crescenzo, Anna Maria Caramadre, Adele D'Amico, Antonella Diamanti, Fabiana Fattori, Maria Pia Casini, Stefano Vicari
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder mainly caused by mutations in the nuclear gene TYMP, encoding thymidine phosphorylase. It generally appears in childhood and is clinically characterized by severe gastrointestinal dysmotility, cachexia, ptosis, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy on brain magnetic resonance imaging. The disease is clinically heterogeneous with the main symptoms being gastrointestinal, with an important weight loss...
October 12, 2016: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
J Stephen Huff, Everett W Austin
Understanding the anatomy and physiology of the eye, the orbit, and the central connections is key to understanding neuro-ophthalmologic emergencies. Anisocoria is an important sign that requires a systematic approach to avoid misdiagnosis of serious conditions, including carotid dissection (miosis) and aneurysmal third nerve palsy (mydriasis). Ptosis may be a sign of either Horner syndrome or third nerve palsy. An explanation should be pursued for diplopia since the differential diagnosis ranges from the trivial to life-threatening causes...
November 2016: Emergency Medicine Clinics of North America
Jessica Mani Penny Tevaraj, Evelyn Tai Li Min, Raja Azmi Mohd Noor, Azhany Yaakub, Wan Hazabbah Wan Hitam
Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye...
2016: Case Reports in Ophthalmological Medicine
Koichi Tomita, Kenji Yano, Akimitsu Nishibayashi, Shien Seike, Ko Hosokawa
BACKGROUND: When the inframammary fold (IMF) is excised in mastectomy procedures for oncologic reasons, it must be recreated to restore a natural breast shape. Despite refinements in surgical techniques, postoperative loss of a well-defined IMF can occur. This study aimed to assess the outcomes of IMF recreation after two-stage, implant-based breast reconstruction. METHODS: We retrospectively reviewed 75 consecutive patients who underwent unilateral, two-stage, implant-based breast reconstruction between 2013 and 2015 at the authors' institution...
2016: SpringerPlus
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Ji-Sun Paik, Su-Ah Kim, Shin Hae Park, Suk-Woo Yang
BACKGROUND: We examined the effect of surgical repair on the pattern of refractive errors in Korean patients with congenital blepharoptosis. METHODS: We reviewed the clinical records of 54 patients with congenital blepharoptosis who attended our hospital from 2006 to 2012 and underwent a detailed refractive examination before and after ptosis repair surgery. Among them, 21 of the patients whose refractive data was available for both before and after the surgery were included in order to observe the effect of ptosis repair surgery on refractive error characteristics...
October 8, 2016: BMC Ophthalmology
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Hui-Fang Wang, Juan Wang, Yan-Ling Wang, Jian-Jian Fan, Gui-Lin Mo, Feng-Yin Gong, Zhi-Ming Chai, Jin Zhang, Hua-Xing Meng, Chang-Xin Li, Jun-Hong Guo, Chuan-Qiang Pu
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. We studied the clinical and biochemical characteristics of a family with MNGIE. The proband was a 48-year-old male presenting with diarrhea and progressive weight loss. He also had ptosis and exhibited eyeball fixation...
October 5, 2016: Acta Neurologica Belgica
Fabrizio De Biasio, Nicola Zingaretti, Andrea Marchesi, Luca Vaienti, Daria Almesberger, Pier Camillo Parodi
BACKGROUND: Quadrantectomy is an oncologically safe procedure for the treatment of early-stage breast cancer, but it often results in poor aesthetic outcomes such as breast shape deformity, which is more visible if the tumour is located in the lower pole. We recommend the use of the transverse incision, which retains the oncological advantages of the quadrantectomy while leading to better aesthetical results. METHOD: We evaluated the clinical results of 24 patients with breast cancer who underwent quadrantectomy of the lower breast pole and volume replacement with remodelling through three posterior scorings from January 2012 to January 2014, with cosmetic evaluations performed according to the criteria set by the Japanese Breast Cancer Society...
October 4, 2016: Aesthetic Plastic Surgery
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
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