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https://www.readbyqxmd.com/read/28054101/management-of-bilateral-wilms-tumours
#1
REVIEW
Alastair J W Millar, Sharon Cox, Alan Davidson
Wilms tumour is named after Max Wilms. It is an embryonal tumour derived from the metanephros. It is the commonest childhood renal tumour and the third commonest paediatric malignancy. Synchronous bilateral Wilms tumours (BWT) represent 4-7% of all Wilms tumours (WT) and present at a younger age than unilateral Wilms tumours. At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash Syndrome, hemihypertrophy, or one of the other overgrowth syndromes...
January 4, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28018434/a-nonsense-pax6-mutation-in-a-family-with-congenital-aniridia
#2
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27989421/persistence-of-foveal-capillary-plexi-in-a-case-of-fovea-plana-evident-on-oct-angiography
#3
X Benouaich, L Mahieu, F Matonti, V Soler
We report the case of a 12-year-old boy with fovea plana discovered on a systematic work-up. His best-corrected visual acuity was limited to 20/25 in both eyes. Anterior segment examination showed no evidence of iris transillumination or aniridia. Macular OCT revealed persistence of the inner nuclear layers in the foveolar area and an absence of foveal pits, suggesting a diagnosis of fovea plana. Fluorescein angiography revealed that the foveal avascular zone (FAZ) was absent. OCT angiography revealed persistence of the superficial and deep capillary plexi...
December 15, 2016: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/27977037/a-high-prevalence-of-exotropia-in-patients-with-duane-retraction-syndrome-in-a-tertiary-eye-care-center-in-south-india
#4
Manjushree Bhate, Virender Sachdeva, Ramesh Kekunnaya
PURPOSE: To determine the prevalence and clinical characteristics of patients with Duane retraction syndrome presenting with exotropia in a tertiary eye care center. METHODS: Medical records of 140 patients with Duane retraction syndrome and exotropia (of the total 441 patients with Duane retraction syndrome) seen from 2000 to 2009 were reviewed. Characteristics studied included age at presentation, gender, laterality, manifest primary position, abnormal head posture, ocular motility, and overshoots...
December 8, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27975340/-history-of-aniridia
#5
J M Rohrbach
No abstract text is available yet for this article.
December 14, 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27929720/unclassified-axenfeld-rieger-syndrome-a-case-series-and-review-of-literature
#6
Aparna Rao, Debananda Padhy, Sarada Sarangi, Gopinath Das
PURPOSE: To report anterior segment features in unclassified anterior segment dysgenesis with overlapping features of Axenfeld-Rieger syndrome and other developmental anomalies. METHODS: This retrospective study included those with atypical or overlapping features in one or both eyes, which were identified as unclassified ASD. Typical ARS was defined as the presence of posterior embryotoxon with or without iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea with or without systemic features...
December 8, 2016: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/27919838/a-cgh-array-procedure-to-detect-pax6-gene-structural-defects
#7
Alessandra Franzoni, Patrizia Dello Russo, Federica Baldan, Angela Valentina D'Elia, Cinzia Puppin, Silvana Penco, Giuseppe Damante
Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. We generated a custom microarray kit using an oligonucleotide-based platform that allows high resolution molecular profiling of genomic aberrations in 20 Mb of the 11p13 chromosomal region, centered on the PAX6 gene...
December 2, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27882234/dysgerminoma-developing-from-an-ectopic-ovary-in-a-patient-with-wagr-syndrome-a-case-report
#8
Rie Miura, Yoshihito Yokoyama, Tatsuhiko Shigeto, Masayuki Futagami, Hideki Mizunuma, Akira Kurose, Kazushi Tsuruga, Shinya Sasaki, Kiminori Terui, Etsuro Ito
WAGR syndrome is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and mental retardation. We encountered a case of a dysgerminoma originating in an ectopic ovary in a woman with WAGR syndrome. Our patient was a 24-year-old nulliparous woman who was diagnosed with WAGR syndrome. The patient had undergone left nephrectomy for a Wilms' tumor and postoperative chemotherapy at the age of 7 months. She also had a history of glaucoma surgery in both eyes, and was followed up at the Department of Pediatrics for diabetes mellitus, hypertension, liver dysfunction and hyperuricemia...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27832328/-ophthalmological-rehabilitation-of-visually-impaired-children
#9
E K Altpeter, N X Nguyen
BACKGROUND: There are very few studies on visually impaired children in Germany; therefore, the aim of this study was to investigate the current spectrum of diseases of visually impaired children and the care of these children in schools and kindergartens with aids and integrative support. PATIENTS AND METHODS: In a retrospective study all children (n =303) who attended the outpatient department for the visually impaired of the University Eye Hospital Tübingen in 2013 and 2014 were evaluated...
November 10, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27829389/chronic-post-operative-iris-prosthesis-endophthalmitis-in-a-patient-with-traumatic-aniridia-a-case-report
#10
Kevin C Firl, Sandra R Montezuma
BACKGROUND: Post-operative endophthalmitis is a serious complication of intraocular surgery which may present acutely or chronically. Chronic post-operative endophthalmitis is characterized by decreased visual acuity, mild pain, and low-grade uveitis several weeks or months after intraocular surgery which may be responsive to corticosteroids, but recur upon tapering. Low virulence organisms such as Propionibacterium acnes are the most common culprit organisms, and treatment most often consists of both intravitreal antibiotic injections and surgery...
November 9, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27800256/transpupillary-argon-laser-cyclophotocoagulation-in-a-refractory-traumatic-glaucoma-patient-with-aphakia-and-aniridia
#11
Umut Duygu Uzunel, Berna Yüce, Tuncay Küsbeci, Halil Ateş
We present a case of transpupillary argon laser cyclophotocoagulation (TALC) in a patient with traumatic aniridia and aphakia secondary to blunt trauma who had previous bilateral trabeculectomy. Four months after the trauma the patient's intraocular pressure (IOP) rose to 35 mmHg despite topical antiglaucomatous medication. Inferior 180 degrees cyclophotocoagulation was performed with transpupillary argon laser in the first session and his IOP fell to values of 12-17 mmHg. Twelve weeks after TALC, his IOP rose to 22 mmHg and we had to apply TALC to the residual ciliary processes...
January 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/27771509/a-mouse-model-of-aniridia-reveals-the-in-vivo-downstream-targets-of-pax6-driving-iris-and-ciliary-body-development-in-the-eye
#12
Xia Wang, Xianghong Shan, Cheryl Y Gregory-Evans
The Pax6 transcription factor is essential for development of the brain, eye, olfactory and endocrine systems. Haploinsufficiency of PAX6 in humans and mice causes the congenital condition aniridia, with defects in each of these organs and systems. Identification of the PAX6 transcription networks driving normal development is therefore critical in understanding the pathophysiology observed with loss-of-function defects. Here we have focused on identification of the downstream targets for Pax6 in the developing iris and ciliary body, where we used laser capture microdissection in mouse eyes from E12...
January 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27768117/long-term-results-of-allogenic-penetrating-limbo-keratoplasty-20-years-of-experience
#13
S J Lang, D Böhringer, G Geerling, T Reinhard
AimThe objective of the study was to evaluate the long-term results of allogenic penetrating limbo-keratoplasy. This method allows simultaneous transplantation of a corneal graft and limbal stem cells of the donor by means of eccentric trephination of the donor button.MethodThe data of 192 consecutive cases of allogenic penetrating limbo-keratoplasty from 1995 to 2015 were reviewed. These had been performed exclusively in eyes with complete failure of the limbal stem cells, in combination with deep corneal scarring...
October 21, 2016: Eye
https://www.readbyqxmd.com/read/27668496/five-year-prose-treatment-for-aniridic-keratopathy
#14
Takashi Kojima, Asato Hasegawa, Tomoaki Nakamura, Naoki Isogai, Takahiro Kataoka, Kazuo Ichikawa
PURPOSE: Aniridic keratopathy is vision-threatening condition in patients with aniridia. The keratopathy occurs due to limbal stem cell deficiency. When conventional treatments fail, surgical treatments such as corneal limbal transplantation or cultivated oral mucosal epithelium transplantation are the alternatives. Here, we report our experience with the management and monitoring of the progress of a case with aniridic keratopathy treated with a scleral lens. CASE REPORT: We describe the case of a 30-year-old woman with aniridic keratopathy in both eyes...
October 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27630877/congenital-aniridia-with-ectopia-lentis
#15
Rakhi Kusumesh, Anita Ambastha
No abstract text is available yet for this article.
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27596598/denys-drash-syndrome-associated-wt1-glutamine-369-mutants-have-altered-sequence-preferences-and-altered-responses-to-epigenetic-modifications
#16
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27581449/a-novel-and-multivalent-role-of-pax6-in-cerebellar-development
#17
Joanna Yeung, Thomas J Ha, Douglas J Swanson, Dan Goldowitz
UNLABELLED: Pax6 is a prominent gene in brain development. The deletion of Pax6 results in devastated development of eye, olfactory bulb, and cortex. However, it has been reported that the Pax6-null Sey cerebellum only has minor defects involving granule cells despite Pax6 being expressed throughout cerebellar development. The present work has uncovered a requirement of Pax6 in the development of all rhombic lip (RL) lineages. A significant downregulation of Tbr1 and Tbr2 expression is found in the Sey cerebellum, these are cell-specific markers of cerebellar nuclear (CN) neurons and unipolar brush cells (UBCs), respectively...
August 31, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27556059/pax6-minipromoters-drive-restricted-expression-from-raav-in-the-adult-mouse-retina
#18
Jack W Hickmott, Chih-Yu Chen, David J Arenillas, Andrea J Korecki, Siu Ling Lam, Laurie L Molday, Russell J Bonaguro, Michelle Zhou, Alice Y Chou, Anthony Mathelier, Sanford L Boye, William W Hauswirth, Robert S Molday, Wyeth W Wasserman, Elizabeth M Simpson
Current gene therapies predominantly use small, strong, and readily available ubiquitous promoters. However, as the field matures, the availability of small, cell-specific promoters would be greatly beneficial. Here we design seven small promoters from the human paired box 6 (PAX6) gene and test them in the adult mouse retina using recombinant adeno-associated virus. We chose the retina due to previous successes in gene therapy for blindness, and the PAX6 gene since it is: well studied; known to be driven by discrete regulatory regions; expressed in therapeutically interesting retinal cell types; and mutated in the vision-loss disorder aniridia, which is in need of improved therapy...
2016: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/27467047/late-acute-rejection-after-allograft-limbal-stem-cell-transplantation-evidence-for-long-term-donor-survival
#19
Medi Eslani, Zeeshan Haq, Asadolah Movahedan, Adam Moss, Alireza Baradaran-Rafii, Gautham Mogilishetty, Edward J Holland, Ali R Djalilian
PURPOSE: To describe the clinical presentation and management of late (>3.0 years) acute graft rejection in keratolimbal allograft (KLAL) recipients. METHODS: This was a multicenter, retrospective observational case series. Six eyes of 6 patients with ocular surface transplant at a mean age of 36.2 years were seen at 3 tertiary referral centers for acute graft rejection between 2007 and 2013. Main outcome measures included strength of systemic immunosuppression (SI) at the time of rejection, time to rejection, and clinical presentation of rejection...
January 2017: Cornea
https://www.readbyqxmd.com/read/27463523/a-novel-homozygous-mutation-in-foxc1-causes-axenfeld-rieger-syndrome-with-congenital-glaucoma
#20
Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I den Hollander
BACKGROUND: Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders. METHODS: We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10) or aniridia (n = 5). All affected and unaffected family members underwent full ophthalmologic and general examinations...
2016: PloS One
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