نتایج جستجو برای: anophthalmos

تعداد نتایج: 207  

2013
Aparna Barabde Shailesh M. Barabde Ashish Bhagat Amar Thakare

To be human is great; to look human is wonderful! It is nature's greatest gift! Mother nature's womb is the safest place on earth for any life, but the calamity strikes and no one knows how Hence, Treasure your exceptions!, since nature seems nowhere accustomed more openly to display, its secret mysteries than in cases where it shows traces of its workings apart from the beaten path. A dismorph...

Journal: :Nippon Ganka Gakkai zasshi 1997
H Ozeki S Shirai

To clarify the relationship between neural crest cells and various developmental eye abnormalities, pregnant mice were administered an intraperitoneal injection of 12.5 mg/kg retinoic acid (RA) suspended in corn oil on day 7 of pregnancy (RA group). Control mice received an equal volume of corn oil only (control group). The fetuses were removed by laparotomy on day 18 of gestation. The fetal mo...

Journal: :The British journal of ophthalmology 1985
G E Trope J L Jay J Dudgeon G Woodruff

Severe corneal ulceration related to self-inflicted injury in the presence of congenital corneal anaesthesia is described in four boys under 2 1/2 years of age. The ulcers had failed to heal until it was recognised that the children were scratching their own eyes. The application of arm splints allowed rapid healing. Although corneal ulceration is a recognised complication of congenital corneal...

2009
Bo-Yie Chen Han-Hsin Chang Shyan-Tang Chen Zih-Jay Tsao Shang-Min Yeh Chia-Yung Wu David Pei-Cheng Lin

PURPOSE Congenital eye malformations are a leading cause of blindness in children. Influenza virus infections prevail worldwide and have been implicated in congenital defects. Infections acquired during gestation may disrupt eye morphogenesis. We investigated the effects of influenza B virus infection on eye malformations during early embryogenesis. METHODS Chick embryos were exposed to influ...

2008
Panigrahi Inusha Kulkarni Ketan Prasad

Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. 6. Amiel J, Attiee-Bitach T, Marianowski R. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124-7. 7. Al Frayh AR, Haque KN. Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive and developme...

2011
Sara Llorente-González J Peralta-Calvo JM Abelairas-Gómez

OBJECTIVE To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients. METHODS A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases) and nontreated patients (controls) was carried out...

Journal: :Investigative ophthalmology & visual science 2004
Saima Aijaz Brian J Clark Kathleen Williamson Veronica van Heyningen Danny Morrison David Fitzpatrick Richard Collin Nicola Ragge Andrea Christoforou Alison Brown Isabel Hanson

PURPOSE To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RES...

Journal: :Cell reports 2015
Hyoung-Tai Kim Soung Jung Kim Young-In Sohn Sun-Sook Paik Romain Caplette Manuel Simonutti Kyeong Hwan Moon Eun Jung Lee Kwang Wook Min Mi Jeong Kim Dong-Gi Lee Antonio Simeone Thomas Lamonerie Takahisa Furukawa Jong-Soon Choi Hee-Seok Kweon Serge Picaud In-Beom Kim Minho Shong Jin Woo Kim

OTX2 (orthodenticle homeobox 2) haplodeficiency causes diverse defects in mammalian visual systems ranging from retinal dysfunction to anophthalmia. We find that the retinal dystrophy of Otx2(+/GFP) heterozygous knockin mice is mainly due to the loss of bipolar cells and consequent deficits in retinal activity. Among bipolar cell types, OFF-cone bipolar subsets, which lack autonomous Otx2 gene ...

2005

Frontonasal Dysplasia (FND) is a rare disorder characterized by deformities of variable severity affecting the craniofacial region. FND with bilateral anophthalmia has not been reported yet in the literature. Maxillofacial surgery should be considered for all patients for whom improvement is possible. But in countries like Pakistan where there are considerable limitations in provision of social...

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