keyword
MENU ▼
Read by QxMD icon Read
search

aniridia

keyword
https://www.readbyqxmd.com/read/28516188/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...
May 17, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28510772/prevalence-incidence-and-risk-factors-for-the-development-of-glaucoma-in-patients-with-aniridia
#2
Shantha Balekudaru, Nandhini Sankaranarayanan, Sumita Agarkar
PURPOSE: To assess the prevalence, incidence, and risk factors for the development of glaucoma in patients with aniridia. METHODS: Retrospective analysis of case records of patients diagnosed as having congenital aniridia between January 1986 and December 2011 was performed. Patients with a follow-up of more than 12 months were included. RESULTS: Ninety-one patients (180 eyes) with the diagnosis of aniridia were identified from the case records...
May 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28488383/pax6-allelic-heterogeneity-in-mexican-congenital-aniridia-patients-expanding-the-mutational-spectrum-with-7-novel-pathogenic-variants
#3
Sofía Pérez-Solórzano, Oscar F Chacón-Camacho, Mirena C Astiazarán, Gerardo Ledesma-Gil, Juan Carlos Zenteno
IMPORTANCE: To describe the clinical characteristics and mutational analysis of Mexican patients with aniridia and PAX6 mutations. BACKGROUND: Aniridia is a panocular hereditary eye disease caused by mutations in the PAX6 transcription factor. Mutation detection rate is highly variable ranging from 30 to 90% in different populations. Very few studies have been published about the PAX6 mutational analysis in aniridia patients from Mexico. In order to establish a more representative PAX6 mutational frequency in the country, a cohort of 22 Mexican unrelated aniridia probands were analyzed in this study...
May 9, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28448293/trabeculectomy-or-transscleral-cyclophotocoagulation-as-initial-treatment-of-secondary-childhood-glaucoma-in-northern-tanzania
#4
Achim Fieß, Peter Shah, Freda Sii, Furahini Godfrey, Joe Abbott, Richard Bowman, Jacqueline Bauer, Stefan Dithmar, Heiko Philippin
PURPOSE: The purpose is to describe the outcome of trabeculectomy with transscleral cyclophotocoagulation (TSCPC) as an initial intervention for secondary childhood glaucoma in Northern Tanzania. METHODS: A retrospective, consecutive case series was analyzed of all children with secondary childhood glaucoma who underwent initial trabeculectomy or TSCPC between 2000 and 2013 at a referral eye unit in Northern Tanzania. Retrospective data were collected on causes of glaucoma, intraocular pressure (IOP), visual acuity, complications, and subsequent interventions...
April 26, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28398607/wagr-syndrome-and-congenital-hypothyroidism-in-a-child-with-a-mosaic-11p13-deletion
#5
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran, Heidi Tampere, Delphine Ceraso, Sylvie Manouvrier, Gérard Tachdjian, Catherine Roche-Lestienne, Catherine Vincent-Delorme
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed...
April 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28321846/molecular-analysis-of-patients-with-aniridia-in-russian-federation-broadens-the-spectrum-of-pax6-mutations
#6
Tatyana A Vasilyeva, Anna A Voskresenskaya, Barbara Käsmann-Kellner, Olga V Khlebnikova, Nadezhda A Pozdeyeva, Gulnara M Bayazutdinova, Sergey I Kutsev, Evgeny K Ginter, Elena V Semina, Andrey V Marakhonov, Rena A Zinchenko
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with WAGR syndrome. The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75...
March 21, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28300742/newly-identified-paired-box-6-mutation-of-variant-familial-aniridia-congenital-iris-ectropion-with-foveal-hypoplasia
#7
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28263264/value-of-intravitreal-gas-injection-with-ahmed-valve-implantation-in-the-prevention-of-suprachoroidal-hemorrhage-in-aphakic-aniridic-and-vitrectomized-glaucomatous-eyes-a-pilot-study
#8
Heba M A El-Saied, Abdussalam M Adullatif
PURPOSE: The aim of this study was to assess the value of intravitreal injection of nonexpansile C3F8 12% in the prevention of suprachoroidal hemorrhage (SCH) after Ahmed valve implantation for the treatment of secondary glaucoma in vitrectomized, aphakic, and aniridic eyes following blunt trauma. PATIENTS AND METHODS: This is a case series of 5 patients who presented with traumatic secondary glaucoma in vitrectomized, aphakic, and aniridic eyes. Vitrectomy was performed in all eyes after trauma for the treatment of the vitreous hemorrhage...
March 3, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28250050/a-novel-mouse-model-of-anterior-segment-dysgenesis-asd-conditional-deletion-of-tsc1-disrupts-ciliary-body-and-iris-development
#9
Anna-Carin Hägglund, Iwan Jones, Leif Carlsson
Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively...
March 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#10
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28157223/novel-variants-in-pax6-gene-caused-congenital-aniridia-in-two-chinese-families
#11
R Zhang, S Linpeng, X Wei, H Li, Y Huang, J Guo, Q Wu, D Liang, L Wu
PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time quantitative PCR was used to explore pathologic mechanisms of the two variants.ResultsAniridia, cataract, and oscillatory nystagmus were observed in patients of the two families...
February 3, 2017: Eye
https://www.readbyqxmd.com/read/28089284/-bilateral-congenital-aniridia-in-ureteropelvic-junction-syndrome
#12
O R Matsanga, M Laghmari, O Lezrek, C Daoudi, Z Bettich, N Boutimzine, R Daoudi
No abstract text is available yet for this article.
February 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28054101/management-of-bilateral-wilms-tumours
#13
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...
April 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28018434/a-nonsense-pax6-mutation-in-a-family-with-congenital-aniridia
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
19447
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"