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https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#1
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David Fitz Patrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28545735/retinoblastoma-vitreous-seed-clouds-class-3-a-comparison-of-treatment-with-ophthalmic-artery-chemosurgery-with-or-without-intravitreous-and-periocular-chemotherapy
#2
Jasmine H Francis, Saipriya Iyer, Y Pierre Gobin, Scott E Brodie, David H Abramson
PURPOSE: To compare the efficacy and toxicity of treating class 3 retinoblastoma vitreous seeds with ophthalmic artery chemosurgery (OAC) alone versus OAC with intravitreous chemotherapy. DESIGN: Retrospective cohort study. PARTICIPANTS: Forty eyes containing clouds (class 3 vitreous seeds) of 40 retinoblastoma patients (19 treated with OAC alone and 21 treated with OAC plus intravitreous and periocular chemotherapy). METHODS: Ocular survival, disease-free survival and time to regression of seeds were estimated with Kaplan-Meier estimates...
May 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28540013/infantile-periocular-hemangioma
#3
REVIEW
Mehdi Tavakoli, Saeid Yadegari, Mahnaz Mosallaei, Maryam Aletaha, Hossein Salour, Wendy W Lee
Infantile periocular hemangiomas (IPH) are common benign vascular tumors that present early in childhood. They typically show a rapid nonlinear growth pattern a few weeks after birth during a proliferative phase, then continue with an involution phase and may result in serious ocular or systemic complications. Theses tumors may present in a range of small isolated lesions to multiple, diffuse involvements. Understanding the nature of the disease, the natural course, complications, indications for intervention, and treatment modalities would be helpful for ophthalmologists, who will likely be consulted for periocular cases...
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28538612/scleral-contact-lenses-in-an-academic-oculoplastics-clinic-epidemiology-and-emerging-considerations
#4
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/28528356/operating-room-fires-in-periocular-surgery
#5
Michael A Connor, Anne M Menke, Ivan Vrcek, John W Shore
AIM: A survey of ophthalmic plastic and reconstructive surgeons as well as seven-year data regarding claims made to the Ophthalmic Mutual Insurance Company (OMIC) is used to discuss operating room fires in periocular surgery. METHODS: A retrospective review of all closed claim operating room fires submitted to OMIC was performed. A survey soliciting personal experiences with operating room fires was distributed to all American Society of Oculoplastic and Reconstructive Surgeons...
May 20, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28524055/risk-factors-associated-with-relapse-of-eyelid-basal-cell-carcinoma-results-from-a-retrospective-study-of-142-patients
#6
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/28512124/use-of-propranolol-in-a-remote-region-of-rural-guatemala-to-treat-a-large-facial-infantile-haemangioma
#7
Vera Goldberg, Boris Martinez, Katia Cnop, Peter Rohloff
We present a female infant with a right-sided facial and neck haemangioma, from a remote, resource-poor community in rural Guatemala. She received first-line treatment, propranolol, with marked reduction in tumour size and erythema. Treatment was stopped after 35 weeks due to recurrent diarrhoea and sustained weight loss. Propranolol can be used to safely treat infants with haemangiomas in remote, rural communities if there is adequate follow-up, education and communication. Periocular haemangiomas should be treated promptly to avoid visual impairment...
May 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28507440/ocular-basal-cell-carcinoma-a-brief-literature-review-of-clinical-diagnosis-and-treatment
#8
REVIEW
Yingyun Shi, Renbing Jia, Xianqun Fan
Basal cell carcinoma (BCC) is a common malignant tumor throughout the world. One of the known risk factors of BCC is intense exposure to ultraviolet radiation. More than 50% of BCCs of the eyelid initially occur on the lower lid. The gold standard of diagnosis of BCC is histopathology. Treatment options for BCC consist of surgery, vismodegib, radiotherapy and imiquimod. Surgical excision using Mohs micrographic surgery or wide surgical excision with frozen section margin control is the first consideration for treatment of periocular BCC...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28500693/the-clinical-spectrum-of-xanthomatous-lesions-of-the-eyelids
#9
REVIEW
Can Baykal, Algun Polat Ekinci, Kurtulus D Yazganoglu, Nesimi Buyukbabani
Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Among these, Langerhans cell histiocytosis, diffuse normolipemic xanthoma, and non-Langerhans cell histiocytoses (papular xanthoma, juvenile xanthogranuloma, xanthoma disseminatum, adult-onset xanthogranuloma, adult-onset asthma and periocular xanthogranuloma, necrobiotic xanthogranuloma, Erdheim-Chester disease, Rosai-Dorfman disease, and reticulohistiocytosis) can be listed...
May 13, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28491440/marginal-resection-and-adjuvant-strontium-plesiotherapy-in-the-management-of-feline-eyelid-malignant-peripheral-nerve-sheath-tumours-two-cases
#10
Davide Berlato, Ana Rita Serras, Marian Matas Riera, Roberta Rasotto
CASE SERIES SUMMARY: Two cats with a marginally resected eyelid malignant peripheral nerve sheath tumour were treated with adjuvant strontium plesiotherapy a few weeks after surgery. The dose applied in both cases was 200 Gy to the surface, in five fractions, on a Monday-Wednesday-Friday basis. The treatment aimed to achieve a clinical margin of approximately 1 cm around the surgical scar and multiple application fields were required to cover such an area. Local recurrence was not seen in either case after 1330 and 645 days, respectively...
July 2016: JFMS Open Rep
https://www.readbyqxmd.com/read/28472008/syndromic-and-nonsyndromic-systemic-associations-of-congenital-lacrimal-drainage-anomalies-a-major-review
#11
Mohammad Javed Ali, Friedrich Paulsen
PURPOSE: To review and summarize the syndromic, nonsyndromic, and systemic associations of congenital lacrimal drainage anomalies. METHODS: The authors performed a PubMed search of all articles published in English on congenital lacrimal anomalies (1933-2016). Patients of these articles were reviewed along with the literature of direct references to syndromes and other systemic associations. Data reviewed included syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes...
May 2, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28467283/pigmented-tumors-in-fallow-deer-dama-dama-11-cases
#12
Kelly L Hughes, Rob J Bildfell, Benjamin Alcantar
Pigmented tumors have been reported infrequently in captive deer. We document herein the clinical progression and gross and histopathologic features of pigmented tumors diagnosed as melanoma and pigmented schwannoma in 11 white fallow deer ( Dama dama). Affected animals were part of a captive herd maintained at a drive-through park in southern Oregon and were 5-17 y of age during the study period (2004-2013). Primary lesion locations included periocular, perineal, and neck tissues, with cutaneous and internal metastases later identified at autopsy in some cases of malignant melanoma...
May 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28458509/reduction-in-bacterial-load-using-hypochlorous-acid-hygiene-solution-on-ocular-skin
#13
David W Stroman, Keri Mintun, Arthur B Epstein, Crystal M Brimer, Chirag R Patel, James D Branch, Kathryn Najafi-Tagol
PURPOSE: To examine the magnitude of bacterial load reduction on the surface of the periocular skin 20 minutes after application of a saline hygiene solution containing 0.01% pure hypochlorous acid (HOCl). METHODS: Microbiological specimens were collected immediately prior to applying the hygiene solution and again 20 minutes later. Total microbial colonies were counted and each unique colony morphology was processed to identify the bacterial species and to determine the susceptibility profile to 15 selected antibiotics...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28438086/feline-leprosy-due-to-candidatus-mycobacterium-tarwinense
#14
Carolyn R O'Brien, Richard Malik, Maria Globan, George Reppas, Christina McCowan, Janet A Fyfe
OBJECTIVES: This paper, the first in a series of three on 'feline leprosy', provides a detailed description of disease referable to Candidatus 'Mycobacterium tarwinense', the most common cause of feline leprosy in Victoria, Australia. METHODS: Cases were sourced retrospectively and prospectively for this observational study, describing clinical, geographical and molecular microbiological data for cats definitively diagnosed with Candidatus 'M tarwinense' infection...
May 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28433444/risk-of-ocular-hypertension-in-adults-with-noninfectious-uveitis
#15
Ebenezer Daniel, Maxwell Pistilli, Srishti Kothari, Naira Khachatryan, R Oktay Kaçmaz, Sapna S Gangaputra, H Nida Sen, Eric B Suhler, Jennifer E Thorne, C Stephen Foster, Douglas A Jabs, Robert B Nussenblatt, James T Rosenbaum, Grace A Levy-Clarke, Nirali P Bhatt, John H Kempen
PURPOSE: To describe the risk and risk factors for ocular hypertension (OHT) in adults with noninfectious uveitis. DESIGN: Retrospective, multicenter, cohort study. PARTICIPANTS: Patients aged ≥18 years with noninfectious uveitis seen between 1979 and 2007 at 5 tertiary uveitis clinics. METHODS: Demographic, ocular, and treatment data were extracted from medical records of uveitis cases. MAIN OUTCOME MEASURES: Prevalent and incident OHT with intraocular pressures (IOPs) of ≥21 mmHg, ≥30 mmHg, and increase of ≥10 mmHg from documented IOP recordings (or use of treatment for OHT)...
April 19, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28432437/an-italian-multicentre-study-on-adult-atopic-dermatitis-persistent-versus-adult-onset-disease
#16
Matteo Megna, Cataldo Patruno, Anna Balato, Franco Rongioletti, Luca Stingeni, Nicola Balato
Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin disease which predominantly affects children. However, AD may persist until adulthood (persistent AD), or directly start in adults (adult-onset AD). AD often shows a non-flexural rash distribution, and atypical morphologic variants in adults and specific diagnostic criteria are lacking. Moreover, adult AD prevalence as well as detailed data which can characterize persistent vs adult-onset subtype are scant. The aim of this study was to investigate on the main features of adult AD particularly highlighting differences between persistent vs adult-onset form...
April 21, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28410769/-granulomatous-periocular-eruption
#17
M Moncourier, P Pralong, N Pinel, I Templier, M-T Leccia
BACKGROUND: Herein, we report a case of atypical periorificial dermatitis in a patient that had been receiving treatment for some time for atopic dermatitis. The specific feature of this rash was its periocular predominance with no perioral involvement, its clinical aspect and its histological picture evocative of sarcoidosis. PATIENTS AND METHODS: A 33-year-old man was being treated for a atopic dermatitis limited to the face and poorly responsive to dermal corticosteroids...
April 11, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28405487/giant-hidrocystoma-of-the-orbit-presenting-with-inversion-and-ptosis-of-the-upper-eyelid
#18
Melis Palamar, Banu Yaman, Taner Akalın, Ayşe Yağcı
A case of giant hidrocystoma of the orbit in a 57-year-old female causing pain, epiphora and ptosis is reported. The cystic mass was totally excised as a whole. Histopathologic examination revealed eccrine hidrocystoma of the orbit. Hidrocystoma must be considered in the differential diagnosis of patients presenting with periocular masses causing pain and ptosis.
April 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28399340/what-s-new-in-eyelid-tumors
#19
Nora Silverman, Roman Shinder
Eyelid malignancies represent between 5% and 10% of all skin cancers. Basal cell carcinoma is the most common, followed by squamous cell carcinoma, sebaceous cell carcinoma, Merkel cell carcinoma, and melanoma. The gold standard treatment for periocular epithelial malignancies is surgical excision. Given the constraints of the anatomy and function of the eyelids, excision with negative margins and reconstruction can be challenging. In cases of significant tissue invasion or metastasis, complete tumor removal may not be possible...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28397860/whole-exome-sequencing-of-congenital-glaucoma-patients-reveals-hypermorphic-variants-in-gpatch3-a-new-gene-involved-in-ocular-and-craniofacial-development
#20
Jesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, Juan-Manuel Bonet-Fernández, Carmen-Dora Méndez-Hernández, Laura Morales-Fernández, Marta Corton, María-José Cabañero-Valera, Marta Gut, Raul Tonda, Carmen Ayuso, Miguel Coca-Prados, Julián García-Feijoo, Julio Escribano
Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing of 26 unrelated CG patients. In one patient we identified two rare, recessive and hypermorphic coding variants in GPATCH3, a gene of unidentified function, and 5% of a second group of 170 unrelated CG patients carried rare variants in this gene. The recombinant GPATCH3 protein activated in vitro the proximal promoter of CXCR4, a gene involved in embryo neural crest cell migration...
April 11, 2017: Scientific Reports
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