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https://www.readbyqxmd.com/read/28551389/mutation-analysis-of-ctnnb1-gene-and-the-ras-pathway-genes-kras-nras-braf-and-pik3ca-in-eyelid-sebaceous-carcinomas
#1
Mi Jung Kwon, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Ji-Young Choe
Sebaceous carcinoma (SC) represents a rare, aggressive eyelid malignancy with poor prognosis and is a possible component of Muir-Torre syndrome. However, genetic features as driver mutations or potential therapeutic targets are not fully elucidated. Recent a few studies have shown that SCs have concurrently multiple mutations including RAS/RAF/MAPK and PI3K/Akt pathways via next-generation sequencing in western population. Because we recently demonstrated absence of KRAS mutations in Korean eyelid SCs, we extended our previous study to the analysis of NRAS, BRAF, PIK3CA, and CTNNB1 mutations, and the examination of related protein expressions in 15 eyelid SCs...
March 1, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28549901/degradation-of-proteoglycan-4-lubricin-by-cathepsin-s-potential-mechanism-for-diminished-ocular-surface-lubrication-in-sj%C3%A3-gren-s-syndrome
#2
Suresh C Regmi, Michael L Samsom, Miriam Heynen, Gregory D Jay, Benjamin D Sullivan, Sruthi Srinivasan, Barbara Caffery, Lyndon Jones, Tannin A Schmidt
Sjögren's syndrome (SS) is an autoimmune disease affecting the lacrimal and salivary glands with hallmark clinical symptoms of dry eye and dry mouth. Recently, markedly increased cathepsin S (CTSS) activity has been observed in the tears of SS patients. Proteoglycan 4 (PRG4), also known as lubricin, is an effective boundary lubricant that is naturally present on the ocular surface. While PRG4 is susceptible to proteolytic digestion, the potential effect of CTSS on PRG4 remains unknown. The objective of this study was to assess the ability of CTSS to enzymatically degrade purified PRG4, and PRG4 naturally present in human tears, and alter ocular surface boundary lubricating properties...
May 23, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28546693/disseminated-rhinosporidiosis-with-conjunctival-involvement-in-an-immunocompromised-patient
#3
Deepa John, Satheesh S T Selvin, Aparna Irodi, Pushpa Jacob
Rhinosporidiosis is a granulomatous infection of mucocutaneous tissue caused by Rhinosporidium seeberi that most commonly occurs in the nasal cavity. Ocular rhinosporidiosis affects primarily the conjunctiva. Diagnosis of rhinosporidiosis is based on strong clinical suspicion and is confirmed by histopathological examination. We report a rare case of conjunctival rhinosporidiosis in an immunocompromised patient (human immunodeficiency virus) with disseminated cutaneous rhinosporidiosis. A 44-year-old male presented with a swelling in the right upper eyelid for 6 months...
January 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28542033/utility-of-prose-device-in-the-management-of-complex-oculoplastic-pathology
#4
Stacy M Scofield-Kaplan, Kristen E Dunbar, Ashley A Campbell, Michael Kazim
PURPOSE: To describe the use of Prosthetic Replacement of the Ocular Surface Ecosystem (PROSE) device in the management of complex oculoplastic pathology. METHODS: The authors retrospectively reviewed the records of individuals over 18 years of age who were referred and successfully fit with the PROSE scleral device between January 1995 and June 2015. RESULTS: Nine cases were identified that had complex oculoplastic disease and severe corneal surface disease...
May 24, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28541267/choroidal-melanoma-sector-melanocytosis-and-retinal-pigment-epithelial-microdetachments-in-birt-hogg-dub%C3%A3-syndrome
#5
Charlotte L Marous, Molly R Marous, R Joel Welch, Jerry A Shields, Carol L Shields
PURPOSE: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, "flecked chorioretinopathy," and one report of choroidal melanoma...
May 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#6
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28540015/trichoblastoma-of-the-upper-eyelid
#7
Bahram Eshraghi, Hamid Riazi-Esfahani, Ramon Katoozpour, Pasha Anvari, Mehdi Mortazavi, Fahaimeh Asadi Amoli
PURPOSE: To describe a case of trichoblsatoma on the eyelid. CASE REPORT: A 45-year-old woman presented with a recurring mass on her upper right eyelid. Histopathological examination revealed well-circumscribed tissue composed of an aggregation of basaloid cells. Immunohistochemistry showed positive staining for CD34 and CD10. The patient underwent total excision of the recurrent mass. CONCLUSION: Although rare, trichoblastoma should be considered in differential diagnosis of skin masses of the eyelids...
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28540005/post-photorefractive-keratectomy-pain-and-corneal-sub-basal-nerve-density
#8
Masoumeh Mohebbi, Amin Rafat-Nejad, Seyed-Farzad Mohammadi, Kosar Asna-Ashari, Maryam Kasiri, Saeed Heidari-Keshel, Farshad Askarizadeh
PURPOSE: The perceived and reported pain of patients receiving photorefractive keratectomy (PRK) widely varies. We assessed the potential role of the subbasal nerve plexus density as a predictor of postoperative pain level. Consecutive patients scheduled to undergo PRK at the Refractive Surgery Clinic of Farabi Eye Hospital, Tehran, were approached. METHODS: Forty-nine myopic left eyes from 49 patients who consented to undergo scanning slit confocal microscopy assessments preoperatively were included...
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28539879/multiple-neural-networks-malfunction-in-primary-blepharospasm-an-independent-components-analysis
#9
Xiao-Feng Huang, Meng-Ru Zhu, Ping Shan, Chen-Hui Pei, Zhan-Hua Liang, Hui-Ling Zhou, Ming-Fei Ni, Yan-Wei Miao, Guo-Qing Xu, Bing-Wei Zhang, Ya-Yin Luo
Primary blepharospasm (BPS) is a focal dystonia characterized by involuntary blinking and eyelid spasms. The pathophysiology of BPS remains unclear. Several neuroimaging studies have suggested dysfunction of sensory processing and sensorimotor integration, but the results have been inconsistent. This study aimed to determine whether patients with BPS exhibit altered functional brain connectivity and to explore possible correlations between these networks and clinical variables. Twenty-five patients with BPS and 25 healthy controls were enrolled...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28538612/scleral-contact-lenses-in-an-academic-oculoplastics-clinic-epidemiology-and-emerging-considerations
#10
Harinder S Chahal, Marcela Estrada, Christine W Sindt, Jacob A Boehme, Mark A Greiner, Jeffrey A Nerad, Keith D Carter, Richard C Allen, Erin M Shriver
PURPOSE: To describe the role and efficacy of scleral contact lenses (SCLs) in the treatment of progressive keratopathy in patients who have undergone periocular surgical procedures, to investigate the financial impact of these surgical interventions, and to demonstrate the role of oculoplastic surgery in improving scleral contact lens fit. METHODS: A retrospective medical record review was performed to identify patients who both received SCLs and were examined by the oculoplastics service at the University of Iowa between January 1990 and December 2015...
May 22, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538610/diagnosis-treatment-and-surgical-repair-in-a-case-of-isolated-conjunctival-lichen-planus-causing-cicatricial-entropion
#11
Elizabeth A Cretara, Robert T Swan, Robert H Hill
A 50-year-old male presented with bilateral cicatricial entropion with subepithelial fibrosis and fornix foreshortening. Conjunctival biopsy showed lymphocytic infiltrate along the interface of the epithelium and lamina propria with linear, shaggy fibrinogen deposition along the epithelial basement membrane zone, supporting a diagnosis of lichen planus. The patient was treated with commercially available topical cyclosporine for 5 months after which bilateral lower eyelid splitting procedure with recession of the anterior lamella and complete excision of the lower eyelid lashes was performed...
May 22, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28537014/usefulness-of-pet-ct-for-early-detection-of-internal-malignancies-in-patients-with-muir-torre-syndrome-report-of-two-cases
#12
Yui Ishiguro, Shigenori Homma, Tadashi Yoshida, Yosuke Ohno, Nobuki Ichikawa, Hideki Kawamura, Hiroo Hata, Satoru Kase, Susumu Ishida, Hiromi Okada-Kanno, Kanako C Hatanaka, Akinobu Taketomi
BACKGROUND: Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. We herein report two cases in which PET/CT was useful for the diagnosis and follow-up of internal malignancies in patients with MTS...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28535271/measuring-trachomatous-inflammation-intense-ti-when-prevalence-is-low-provides-data-on-infection-with-chlamydia-trachomatis
#13
Andrea I Zambrano, Beatriz E Muñoz, Harran Mkocha, Laura Dize, Charlotte A Gaydos, Thomas Quinn, Sheila K West
Purpose: Clinical trachoma is the current measure of effectiveness of antibiotic and environmental improvements in trachoma endemic communities. Impact assessments measure only trachomatous inflammation-follicular (TF). Trachomatous inflammation-intense (TI) is not used for decisions on stopping mass drug administration (MDA) or achieving intervention goals. We tested the supposition that TI was not associated with Chlamydia trachomatis when disease prevalence is low. Methods: In 35 communities undergoing MDA as part of a larger project, 110 children ages 1 to 9 years were randomly selected in each community for surveys at baseline, 6, and 12 months...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28530256/can-the-onset-of-orbital-cancer-be-the-result-of-a-prosthetic-eye
#14
A Croce, V Mastronardi, M Laus, E Festa Kotelnikova
Orbital exenteration is a disfiguring procedure performed for unresponsive orbital infections and control of recurrent benign tumours and malignancies arising from the eyelids (basal cell carcinoma, squamous cell carcinoma, conjunctival malignant melanoma), lachrymal glands (adenoid cystic carcinoma) or surrounding sinuses. In extremely rare cases the use of a prosthetic eye after enucleation can lead to anophthalmic socket tumours. We report the case of a 54-year-old man who had left eye enucleation due to recurring events of retinal detachment and who developed an invasive fast growing epidermoid carcinoma 30 years later...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28529498/eyelid-retraction-in-isolated-unilateral-congenital-blepharoptosis
#15
Michael S Salman, Ian H Clark
Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28528830/eyelid-sebaceous-gland-carcinoma-with-extensive-pagetoid-spread
#16
Arpine Barsegian, Roman Shinder
No abstract text is available yet for this article.
June 2017: Ophthalmology
https://www.readbyqxmd.com/read/28526427/atypical-presentations-of-cutaneous-leishmaniasis-a-systematic-review
#17
REVIEW
Camilla Barros Meireles, Laís Chaves Maia, Gustavo Coelho Soares, Ilara Parente Pinheiro Teodoro, Maria do Socorro Vieira Gadelha, Cláudio Gleidiston Lima da Silva, Marcos Antonio Pereira de Lima
Cutaneous Leishmaniasis (CL) is endemic in 88 countries, showing relevant prevalences. The aim of this study was to perform a systematic review on atypical lesions of CL around the world, addressing clinico-epidemiological, immunological and therapeutic aspects. A search of the literature was conducted via electronic databases Scopus and PubMed for articles published between 2010 and 2015. The search terms browsed were "cutaneous leishmaniasis", "atypical" and "unusual". Based on the eligibility criteria, 34 out of 122 articles were included in the final sample...
May 17, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28524145/-orbital-case-of-ocular-dirofilariasis
#18
M B Gushсhina, E V Egorova, N S Yuzhakova, S A Mal'kov
AIM: to report a clinical case of orbital dirofilariasis with attention to peculiarities of disease presentation, diagnostic measures, and treatment results. MATERIAL AND METHODS: A patient with a history of spontaneously subsiding recurrent oedema of the lower eyelid suspicious of parasitic cyst formation. The diagnosis was confirmed preoperatively by orbital ultrasound. Surgical intervention included orbitotomy with microsurgical excision of the parasitic cyst via a percutaneous approach through the lower eyelid skin crease...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28524055/risk-factors-associated-with-relapse-of-eyelid-basal-cell-carcinoma-results-from-a-retrospective-study-of-142-patients
#19
Giusy Fatigato, Silvano Capitani, Daniela Milani, Silvia Grassilli, Ayman Am Alameen, Marco Candiani, Carlo Riberti, Marco Galasso, Maurizio Previati
Of skin cancers, 9% arise at the periocular level, constituting a significant threat due to the proximity to intracranial structures, such as the eyes, nerve endings and proximal tissues. Tumour recurrence can be frequent and represents a primary clinical challenge for the surgeon. To present a retrospective study on the treatment of eyelid tumours at a tertiary care centre in Italy over an eight-year period and, in particular, to underline the risk factors associated with tumour relapse. Among a cohort of 205 patients, a retrospective study was conducted on 142 basal cell carcinoma (BCC) patients with eyelid tumours treated with surgical excision...
May 19, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28520629/blepharoplasty-effect-on-a-described-algorithmic-approach-to-external-ptosis-repair-is-it-time-for-unbundling
#20
Tal J Rubinstein, Daniel J Repp, Bryan S Sires
PURPOSE: To investigate the effects of performing a previously described algorithmic levator resection for involutional ptosis with a blepharoplasty instead of through a small incision. METHODS: Eyelids with involutional ptosis and normal levator function were included in the study. An upper blepharoplasty was performed first. An external levator resection was then performed based on a described technique involving 2 mm resection of aponeurosis for 1 mm of desired lift, consistent tension on the aponeurosis between surgical cases, and standardized suture placement...
May 17, 2017: Ophthalmic Plastic and Reconstructive Surgery
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