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https://www.readbyqxmd.com/read/28922328/minor-salivary-gland-transplantation-for-severe-dry-eyes
#1
Tais Hitomi Wakamatsu, Ana Estela Besteti Pires Ponce SantʼAnna, Priscila Cardoso Cristovam, Venâncio Avancini Ferreira Alves, Alda Wakamatsu, José Alvaro Pereira Gomes
Dry eye is a multifactorial disease comprising a wide spectrum of ocular surface alterations and symptoms of discomfort. In most patients with aqueous-deficient dry eye, pharmaceutical tear substitutes are used to control symptoms and prevent ocular surface damage. However, in severe dry eye conditions caused by cicatricial disorders, such as Stevens-Johnson syndrome and ocular cicatricial mucous membrane pemphigoid, noninvasive treatments are insufficient, and patients are at risk of developing complications that can lead to blindness...
September 15, 2017: Cornea
https://www.readbyqxmd.com/read/28917373/efficacy-of-topical-rose-rosa-damascena-mill-oil-for-migraine-headache-a-randomized-double-blinded-placebo-controlled-cross-over-trial
#2
Maria Niazi, Mohammad Hashem Hashempur, Mohsen Taghizadeh, Mojtaba Heydari, Abdolhamid Shariat
AIM: To evaluate the effect of topical formulation of Rosa damascena Mill. (R. damascena) oil on migraine headache, applying syndrome diffrentiation model. METHODS AND MATERIALS: Forty patients with migraine headache were randomly assigned to 2 groups of this double-blind, placebo-controlled cross-over trial. The patients were treated for the first 2 consecutive migraine headache attacks by topical R. damascena oil or placebo. Then, after one week of washout period, cross-over was done...
October 2017: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/28913623/updated-strategies-for-the-management-pathogenesis-and-molecular-genetics-of-different-forms-of-ichthyosis-syndromes-with-prominent-hair-abnormalities
#3
REVIEW
Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Imran Afzal, Asma Gul, Sumbal Khalid
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features...
September 14, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28885867/clinical-characteristics-of-recessive-retinal-degeneration-due-to-mutations-in-the-cdhr1-gene-and-a-review-of-the-literature
#4
A P Bessette, M J DeBenedictis, E I Traboulsi
BACKGROUND: The clinical phenotype of patients presenting with autosomal recessive CDHR1-related retinopathy has not been well described. MATERIALS AND METHODS: This is a retrospective case series of patients presenting to a single institution. Clinical data, including age, visual acuity, dilated fundus exam, fundus photos, fundus autofluorescence (FAF), optical coherence tomography, full-field electroretinograms (ERGs), and results of genetic testing, were collected...
September 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28839390/ichthyosis-follicularis-alopecia-and-photophobia-syndrome
#5
Sunder Nagakeerthana, Murugaiyan Rangaraj, Kaliaperumal Karthikeyan
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic, oculocutaneous disorder. So far, about forty patients have been reported worldwide. This disorder results from mutations in the membrane-bound transcription factor protease site 2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this unique presentation has not been described earlier...
April 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28832739/tacrolimus-eye-drops-as-monotherapy-for-vernal-keratoconjunctivitis-a-randomized-controlled-trial
#6
Eduardo Gayger Müller, Myrna Serapião Dos Santos, Denise Freitas, José Álvaro Pereira Gomes, Rubens Belfort
PURPOSE: To assess the efficacy of monotherapy using tacrolimus eye drops versus sodium cromoglycate for the treatment of vernal keratoconjunctivitis (VKC). METHODS: Randomized double-masked controlled trial comparing the efficacy of tacrolimus 0.03% eye drops t.i.d. (Group 1) with sodium cromoglycate 4% eye drops t.i.d. (Group 2) for the symptomatic control of VKC at days 0, 15, 30, 45, and 90 of follow-up. Visual acuity, intraocular pressure, and other complications were evaluated to assess safety and side effects...
June 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/28829391/a-rare-form-of-retinal-dystrophy-caused-by-hypomorphic-nonsense-mutations-in-cep290
#7
Susanne Roosing, Frans P M Cremers, Frans C C Riemslag, Marijke N Zonneveld-Vrieling, Herman E Talsma, Francoise J M Klessens-Godfroy, Anneke I den Hollander, L Ingeborgh van den Born
PURPOSE: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. METHODS: Extensive clinical and ophthalmologic assessment was performed on two siblings with OT and long-term follow up data were analyzed. Subsequently, whole exome sequencing (WES) and Sanger sequence analysis of CEP290 was performed in the two siblings...
August 22, 2017: Genes
https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#8
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28815346/unilateral-cancer-associated-retinopathy-diagnosis-serology-and-treatment
#9
Dimitri Roels, Shinji Ueno, Cornelia D Talianu, Dafina Draganova, Mineo Kondo, Bart P Leroy
PURPOSE: To report a case of unilateral cancer-associated retinopathy (CAR) with clinical, serological and electroretinogram (ERG) normalization after aggressive cancer treatment combined with steroids and rituximab. METHODS: Work-up included extensive clinical and electrophysiological testing. Also, serological work-up for antiretinal antibodies and oncological screening was organized. RESULTS: A 45-year-old female presented with progressive photopsias, photophobia and relative central scotoma in the right eye since 6 weeks prior...
August 16, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28811849/meniere-s-disease-and-vestibular-migraine-updates-and-review-of-the-literature
#10
REVIEW
Paul Tabet, Issam Saliba
The diagnosis of Meniere's disease (MD) and vestibular migraine (VM) is primarily based on clinical criteria and their differentiation is often difficult. Currently, there are no known definitive diagnostic tests that can reliably distinguish the two conditions. Patients with MD and patients with VM are treated differently, therefore improving the diagnosis of these two pathologies should avoid errors in management. A systematic review was conducted according to PRISMA guidelines. Medline-Ovid and Embase databases were used to conduct a thorough search of English-language publications dating from 1948 to March 2016...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28806629/aseptic-meningitis-in-adults-and-children-diagnostic-and-management-challenges
#11
Bhavarth Shukla, Elizabeth A Aguilera, Lucrecia Salazar, Susan H Wootton, Quanhathai Kaewpoowat, Rodrigo Hasbun
BACKGROUND: Aseptic meningitis represents a common diagnostic and management dilemma to clinicians. OBJECTIVES: To compare the clinical epidemiology, diagnostic evaluations, management, and outcomes between adults and children with aseptic meningitis. STUDY DESIGN: We conducted a retrospective study from January 2005 through September 2010 at 9 Memorial Hermann Hospitals in Houston, TX. Patients age≥2months who presented with community-acquired aseptic meningitis with a CSF white blood cell count >5cells/mm(3) and a negative Gram stain and cultures were enrolled...
September 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28806382/orbital-cellulitis-following-orbital-blow-out-fracture
#12
Je Yeon Byeon, Hwan Jun Choi
Orbital cellulitis and abscess have been described in the literature as complication that usually occur secondary to infection in the maxillary, ethmoidal, and frontal sinuses. If left untreated, it can lead to blindness, cavernous sinus thrombosis, meningitis, or cerebral abscess. Orbital fractures are a common sequela of blunt orbital trauma, but are only rarely associated with orbital cellulitis. So, the authors present rare orbital cellulitis after orbital blow-out fracture. A 55-year-old Asian complains of severe orbital swelling and pain on the left side...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28803395/isolated-severe-microblepharon-in-a-neonate-a-rare-case
#13
Rachna Meel, Saranya Devi, Anita Ganger, Manasa S, Neelam Pushker
PURPOSE: To report a rare case of isolated severe microblepharon in a neonate. METHODS: A 27 days old male child was brought by parents with redness, photophobia and discharge for two weeks. Thorough ophthalmological and systemic examination was performed. RESULTS: The diagnosis of isolated severe microblepharon with infectious keratitis was made. After the appropriate management of infectious keratitis and achieving complete resolution, the child was subjected to bilateral lid reconstruction was done in the form of upper lid skin grafting and tarsorrhaphy and the patient is being followed up...
August 12, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28796589/the-role-of-migraine-headache-severity-associated-features-and-interactions-with-overweight-obesity-in-inhibitory-control
#14
Rachel Galioto, Kevin C O'Leary, John Gunstad, J Graham Thomas, Richard B Lipton, Jelena M Pavlović, Julie Roth, Lucille Rathier, Dale S Bond
AIM OF THE STUDY: While migraine and obesity are related and associated with reduced executive functioning, no study has examined whether obesity exacerbates executive dysfunction in migraine. This cross-sectional study examined whether overweight/obesity moderated associations of migraine severity and associated features with inhibitory control, one aspect of executive function. MATERIALS AND METHODS: Women (n = 124) aged 18-50 years old with overweight/obesity (body mass index (BMI) = 35...
August 10, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28795510/cngb3-mutation-spectrum-including-copy-number-variations-in-485-achromatopsia-patients
#15
Anja Kathrin Mayer, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, Susanne Kohl
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1,074 independent families clinically diagnosed with achromatopsia...
August 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28792180/bilateral-acute-anterior-uveitis-and-conjunctivitis-following-intravenous-zoledronic-acid
#16
Samrat Chatterjee, Deepshikha Agrawal
The ocular side-effects of bisphosphonates have the potential to escalate with their widespread use. We report a patient of osteoporosis who was treated with zoledronic acid infusion. He developed ocular pain, redness, watering, photophobia and swelling of both the eyes. He was diagnosed with acute anterior uveitis and conjunctivitis and treated with topical 1% prednisolone acetate and 1% atropine sulphate. The signs of inflammation abated by one week and the steroids were tapered over the next six weeks. There were no further recurrences...
July 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28749897/role-of-scleral-contact-lenses-in-management-of-coexisting-keratoconus-and-stevens-johnson-syndrome
#17
Varsha M Rathi, Mukesh Taneja, Srikanth Dumpati, Preeji S Mandathara, Virender S Sangwan
PURPOSE: To report the rare coexistence of keratoconus and Stevens-Johnson syndrome (SJS) managed with scleral contact lenses (ScCLs). METHODS: This is a retrospective case series. Five patients (9 eyes) who had coexisting SJS and corneal ectasia were identified from the database during the 2-year period. Diagnosis of SJS was based on a positive history of drug reactions, signs of ocular surface disease, and the presence of keratinization of lid margins. Keratoconus was diagnosed by slit-lamp biomicroscopy...
October 2017: Cornea
https://www.readbyqxmd.com/read/28746191/whole-exome-sequencing-unveils-a-frameshift-mutation-in-cngb3-for-cone-dystrophy-a-case-report-of-an-indian-family
#18
Shashank Gupta, Amit Chaurasia, Ekta Pathak, Rajeev Mishra, Vidya Nair Chaudhry, Prashaant Chaudhry, Ashim Mukherjee, Mousumi Mutsuddi
RATIONALE: Genetic elucidation of cone-dominated retinal dystrophies in Indian subcontinent is much needed to identify and catalog underlying genetic defects. In this context, the present study recruited a consanguineous Indian family affected with autosomal recessive cone dystrophy (CD). Considering the huge genetic heterogeneity and recessive inheritance of the disease, we chose to dissect out causal variant in this family by whole exome sequencing (WES). PATIENT CONCERNS: In the recruited family, three of the six siblings had complaints of poor visual acuity, photophobia, and disturbed colour vision since early childhood...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28732609/refractive-outcomes-after-multifocal-intraocular-lens-exchange
#19
Eric J Kim, Ahmar Sajjad, Ildamaris Montes de Oca, Douglas D Koch, Li Wang, Mitchell P Weikert, Zaina N Al-Mohtaseb
PURPOSE: To evaluate the refractive outcomes after multifocal intraocular lens (IOL) exchange. SETTING: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA. DESIGN: Retrospective case series. METHODS: Patients had multifocal IOL explantation followed by IOL implantation. Outcome measures included type of IOL, surgical indication, corrected distance visual acuity (CDVA), and refractive prediction error...
June 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28730326/infectious-diseases-causing-autonomic-dysfunction
#20
REVIEW
Francisco Javier Carod Artal
OBJECTIVES: To review infectious diseases that may cause autonomic dysfunction. METHODS: Review of published papers indexed in medline/embase. RESULTS: Autonomic dysfunction has been reported in retrovirus (human immunodeficiency virus (HIV), human T-lymphotropic virus), herpes viruses, flavivirus, enterovirus 71 and lyssavirus infections. Autonomic dysfunction is relatively common in HIV-infected patients and heart rate variability is reduced even in early stages of infection...
July 20, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
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