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https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#1
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
January 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29341972/ocular-surface-and-tear-film-characteristics-in-a-sclerodermatous-chronic-graft-versus-host-disease-mouse-model
#2
Jingliang He, Mio Yamane, Shinsuke Shibata, Masaki Fukui, Eisuke Shimizu, Tetsuya Yano, Shin Mukai, Yutaka Kawakami, Shaowei Li, Kazuo Tsubota, Yoko Ogawa
PURPOSE: To report the characteristics of the ocular surface in a previously established sclerodermatous chronic graft-versus-host disease (cGVHD) mouse model. METHODS: The ocular surface features and tear film parameters of the mouse model were assessed by histopathology, immunohistochemistry, electron microscopy, quantitative polymerase chain reaction, and flow cytometry. RESULTS: The mice exhibited loss of body weight and decreased tear secretion (P < 0...
January 16, 2018: Cornea
https://www.readbyqxmd.com/read/29320451/the-pathogenesis-of-staphylococcus-aureus-eye-infections
#3
REVIEW
Richard J O'Callaghan
Staphylococcus aureus is a major pathogen of the eye able to infect the tear duct, eyelid, conjunctiva, cornea, anterior and posterior chambers, and the vitreous chamber. Of these infections, those involving the cornea (keratitis) or the inner chambers of the eye (endophthalmitis) are the most threatening because of their potential to cause a loss in visual acuity or even blindness. Each of these ocular sites is protected by the constitutive expression of a variety of antimicrobial factors and these defenses are augmented by a protective host response to the organism...
January 10, 2018: Pathogens
https://www.readbyqxmd.com/read/29283119/demodex-and-rosacea-is-there-a-relationship
#4
Diana Gonzalez-Hinojosa, Alejandro Jaime-Villalonga, Gustavo Aguilar-Montes, Lorena Lammoglia-Ordiales
PURPOSE: The objective of the study is to compare the frequency of Demodex on the eyelash follicle of patients with rosacea and referents without rosacea or ophthalmological disorders. METHODS: This is a comparative, open, observational, and cross-sectional study that included 41 patients diagnosed with rosacea and 41 referents without rosacea diagnosis or ophthalmic alterations. The individuals underwent a slit-lamp examination in which two eyelashes per eyelid were removed with fine forceps...
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29232760/the-association-of-keratoconus-with-blepharitis
#5
Dina Mostovoy, Shlomo Vinker, Michael Mimouni, Yakov Goldich, Shmuel Levartovsky, Igor Kaiserman
BACKGROUND: Identifying potentially treatable risk factors for the progression of keratoconus is of great importance. The purpose of this study was to determine the association between blepharitis and keratoconus. METHODS: In this prospective, comparative, observational study, 50 keratoconus participants from the central district of the Clalit Health Services Health Maintenance Organization in Israel underwent comprehensive eye examination. Seventy-two healthy medical personnel of similar ages were randomly chosen as a control group...
December 12, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/29199865/changes-in-the-meibomian-gland-after-exposure-to-intense-pulsed-light-in-meibomian-gland-dysfunction-mgd-patients
#6
Yue Yin, Ninghua Liu, Lan Gong, Nan Song
PURPOSE: To observe (1) changes in meibomian gland (MG) after exposure to intense pulsed light (IPL) and (2) to understand the mechanism by which IPL treats meibomian gland dysfunction (MGD) in patients. METHODS: A cohort study, including 35 MGD patients, was conducted. IPL treatment was administered in one group (IPL group; n = 18), and eyelid hygiene in another (control group; n = 17) for 3 months. All patients were given artificial tears during the treatment period...
December 4, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29133634/immunohistochemical-expression-of-x-linked-inhibitor-of-apoptosis-in-eyelid-sebaceous-gland-carcinoma-predicts-a-worse-prognosis
#7
Perumal Jayaraj, Seema Sen, P S Dhanaraj, Romika Jhajhria, Shalu Singh, Vijay Kumar Singh
PURPOSE: Overexpression of the inhibitors of apoptosis proteins have been demonstrated in a variety and of solid tumors including melanomas and nonmelanomas skin cancers. X-linked inhibitor of apoptosis protein (XIAP) is an inhibitor of apoptosis which prevents apoptosis by inhibiting caspases 9, 7, and 3. The prognostic value of XIAP in sebaceous gland carcinoma (SGC) remains unexplored. METHODS: The immunohistochemical expression of XIAP was evaluated in 29 SGC cases...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29128682/randomized-double-masked-trial-of-eyelid-cleansing-treatments-for-blepharitis
#8
Justin Sung, Michael T M Wang, Sang H Lee, Isabella M Y Cheung, Salim Ismail, Trevor Sherwin, Jennifer P Craig
PURPOSE: To compare the efficacy of a dedicated eyelid cleanser and diluted baby shampoo in the management of blepharitis. METHODS: Forty-three participants with clinical blepharitis signs were enrolled in a prospective, randomized, double-masked, paired-eye trial. A dedicated eyelid cleanser (TheraTears® SteriLid®) was applied to the eyelids of one eye (randomized) and diluted baby shampoo (Johnson's® No More Tears®) to the fellow eye, twice daily for 4 weeks...
November 8, 2017: Ocular Surface
https://www.readbyqxmd.com/read/29054722/the-eyelids-and-tear-film-in-contact-lens-discomfort
#9
Jaya Sowjanya Siddireddy, Ajay Kumar Vijay, Jacqueline Tan, Mark Willcox
PURPOSE: To investigate characteristics of the eyelid margins, meibomian glands and the tear film of contact lens wearers, and to determine whether these characteristics were related to symptoms of contact lens discomfort. METHODS: A cross sectional study was performed on thirty existing daily wear soft contact lens wearers (6 male; 24 female) with median age of 23 years (range 18-41). Eyelid signs and tear film characteristics were evaluated during a single visit and subjects completed the contact lens and dry eye questionnaire (CLDEQ-8) to evaluate ocular discomfort...
October 17, 2017: Contact Lens & Anterior Eye: the Journal of the British Contact Lens Association
https://www.readbyqxmd.com/read/29052604/effect-of-topical-loteprednol-etabonate-with-lid-hygiene-on-tear-cytokines-and-meibomian-gland-dysfunction-in-prosthetic-eye-wearers
#10
J S Ko, Y Seo, M K Chae, S Y Jang, J S Yoon
PurposeTo assess tear cytokine levels and clinical outcomes in meibomian gland dysfunction (MGD) in the blind eye of patients wearing an ocular prosthesis after 2 months of treatment with topical loteprednol etabonate and eyelid scrubs with warm compresses.Patients and methodsThis study included patients with MGD wearing a unilateral ocular prosthesis for more than 1 year. All patients topically received 0.5% loteprednol etabonate and were instructed to scrub their eyelids with warm compresses on the prosthetic eye for 2 months...
October 20, 2017: Eye
https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#11
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28943255/keratin-14-positive-precursor-cells-spawn-a-population-of-migratory-corneal-epithelia-that-maintain-tissue-mass-throughout-life
#12
Alexander Richardson, Erwin P Lobo, Naomi C Delic, Mary R Myerscough, J Guy Lyons, Denis Wakefield, Nick Di Girolamo
The dynamics of epithelial stem cells (SCs) that contribute to the formation and maintenance of the cornea are poorly understood. Here, we used K14CreER(T2)-Confetti (Confetti) mice, sophisticated imaging, and computational modeling to trace the origins and fate of these cells during embryogenesis and adult life. We show that keratin-14 (K14(+))-expressing progenitors are defined and widely distributed across the E16.5 cornea, after which they undergo cycles of proliferation and dispersal prior to eyelid opening...
October 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28926885/-evaluation-of-short-term-effect-of-intense-pulsed-light-combined-with-meibomian-gland-expression-in-the-treatment-of-meibomian-gland-dysfunction
#13
B Rong, P Tu, Y Tang, R X Liu, W J Song, X M Yan
Objective: To explore short-term effect of intense pulsed light (IPL) combined with meibomian gland expression in treating meibomian gland dysfunction (MGD). Methods: This study was a prospective, randomized, double-masked, controlled study. Forty-four MGD patients were enrolled in the study and received three consecutive IPL treatments with an interval of 4 weeks. One eye of each patient was randomly assigned as the study eye receiving the IPL therapy with an energy of 14-16 J/cm(2), and the fellow eye was as the control eye receiving a placebo therapy with 0 J/cm(2)...
September 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28902011/meibomian-gland-dysfunction-associated-with-periocular-radiotherapy
#14
Young Jun Woo, JaeSang Ko, Yong Woo Ji, Tae-Im Kim, Jin Sook Yoon
PURPOSE: To investigate the influence of periocular radiotherapy on meibomian glands. METHODS: We evaluated 28 patients (40 eyes) who received radiotherapy (RT group) for conjunctival or orbital lymphoma and 30 age-matched control subjects (60 eyes). Subjects underwent slit-lamp examination of the eyelids, Schirmer test, meibography, and evaluation of tear film breakup time (TBUT), Ocular Surface Disease Index (OSDI) scores, meibomian glands evaluation (meiboscore, meibum expressibility, and lid margin abnormality scores), and tear film lipid layer thickness using an ocular surface interferometer...
December 2017: Cornea
https://www.readbyqxmd.com/read/28887117/analysis-of-cytokine-levels-in-tears-and-clinical-correlations-after-intense-pulsed-light-treating-meibomian-gland-dysfunction
#15
RANDOMIZED CONTROLLED TRIAL
Ruixing Liu, Bei Rong, Ping Tu, Yun Tang, Wenjing Song, Rolando Toyos, Melissa Toyos, Xiaoming Yan
PURPOSE: To investigate the change from baseline of inflammatory markers in tears of dry eye disease (DED) subjects owing to meibomian gland dysfunction (MGD) after intense pulsed light (IPL) treatment and meibomian gland expression (MGE) compared to sham treatment, and the correlations with ocular surface parameters. DESIGN: Randomized, double-masked, controlled study. METHODS: Those randomized into the active treatment arm received 3 consecutive treatments (14∼16 J/cm2) approximately 4 weeks apart in the periocular region...
November 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28812919/comparison-of-primary-and-secondary-enucleation-for-uveal-melanoma
#16
Chau M Pham, Philip L Custer, Steven M Couch
We investigated operative course and post-operative findings of patients undergoing primary enucleation for uveal melanoma versus those requiring secondary enucleation after brachytherapy. A retrospective chart review was performed with IRB approval on patients receiving treatment for uveal melanoma. Patients with enucleation as initial treatment and patients enucleated after plaque brachytherapy were analyzed for demographic data, operative course, and post-enucleation outcome. Further cause analysis for secondary enucleations was investigated...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812417/lacrimal-gland-abscesses-case-series-and-literature-review
#17
Brian Savoie, Rand Rodgers, Matthew Gorski
Acute dacryoadenitis with abscess formation has been rarely described. We describe four cases that resolved with incision and drainage. This includes a retrospective case series of four patients with radiologically confirmed lacrimal gland abscesses and a review of the reported cases in the literature. Computed tomography showed characteristic rim enhancing collections with central attenuation in all four cases. All patients presented with ptosis, upper eyelid erythema, and severe pain similar to scleritis...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28724810/updates-on-upper-eyelid-blepharoplasty
#18
REVIEW
Kasturi Bhattacharjee, Diva Kant Misra, Nilutparna Deori
The human face is composed of small functional and cosmetic units, of which the eyes and periocular region constitute the main point of focus in routine face-to-face interactions. This dynamic region plays a pivotal role in the expression of mood, emotion, and character, thus making it the most relevant component of the facial esthetic and functional unit. Any change in the periocular unit leads to facial imbalance and functional disharmony, leading both the young and the elderly to seek consultation, thus making blepharoplasty the surgical procedure of choice for both cosmetic and functional amelioration...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28695824/a-multi-scale-model-for-hair-follicles-reveals-heterogeneous-domains-driving-rapid-spatiotemporal-hair-growth-patterning
#19
Qixuan Wang, Ji Won Oh, Hye-Lim Lee, Anukriti Dhar, Tao Peng, Raul Ramos, Christian Fernando Guerrero-Juarez, Xiaojie Wang, Ran Zhao, Xiaoling Cao, Jonathan Le, Melisa A Fuentes, Shelby C Jocoy, Antoni R Rossi, Brian Vu, Kim Pham, Xiaoyang Wang, Nanda Maya Mali, Jung Min Park, June-Hyug Choi, Hyunsu Lee, Julien M D Legrand, Eve Kandyba, Jung Chul Kim, Moonkyu Kim, John Foley, Zhengquan Yu, Krzysztof Kobielak, Bogi Andersen, Kiarash Khosrotehrani, Qing Nie, Maksim V Plikus
The control principles behind robust cyclic regeneration of hair follicles (HFs) remain unclear. Using multi-scale modeling, we show that coupling inhibitors and activators with physical growth of HFs is sufficient to drive periodicity and excitability of hair regeneration. Model simulations and experimental data reveal that mouse skin behaves as a heterogeneous regenerative field, composed of anatomical domains where HFs have distinct cycling dynamics. Interactions between fast-cycling chin and ventral HFs and slow-cycling dorsal HFs produce bilaterally symmetric patterns...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28610808/sarcoidosis-of-the-lacrimal-gland-as-a-first-manifestation
#20
M Y Peralta-Gómez, K A Ávila-Ocampo, S Huerta-Velázquez, M I Rivera-Salgado
OBJECTIVE/METHOD: The first manifestation of sarcoidosis is usually at the pulmonary level. The case is described of a 40-year-old female patient, who presented with an increased volume of the lacrimal gland and mechanical ptosis of upper left eyelid as the first expression of this disease. RESULT/CONCLUSION: The diagnosis of systemic sarcoidosis with primary presentation of the lacrimal gland was made after performing several immunological studies with negative results, imaging studies, and taking of glandular and lymph node biopsies...
June 10, 2017: Archivos de la Sociedad Española de Oftalmología
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