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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a girl with a de novo pure partial trisomy 21 with some clinical features of Down syndrome. The girl patient presented a flat broad face, brachycephaly, and a flat nasal bridge. She also had upwardly slanted palpebral fissures, epicanthal folds, blepharitis, brushfield spots, and strabismus. Her mouth was wide with downturned corners, prominent lower lip, narrow and furrowed tongue, and short palate. G-banded chromosomal analysis of metaphases in cells from both skin and blood showed a 46,XX karyotype with additional chromosomal material on the distal short arm of one chromosome 21. Parental chromosomes were normal. Molecular analyses with the short-tandem-repeat (STR) marker D21S2039 (interferon-alpha/beta receptor [IFNAR]) (21q22.1) showed a triallelic pattern. Subtelomeric fluorescent in situ hybridization (FISH) analyses, LSI 13 (retinoblastoma 1 [RB1])/LSI 21(21q22.13-q22.2), and whole chromosome painting probes specific for chromosome 21 showed trisomy for the segment 21q22.13-21q22.2 due to a de novo intrachromosomal duplication. A 500K SNP microarray analysis was then performed and revealed a 13-Mb duplication of 21q22.11-qter. This duplicated material had been translocated onto the end of the "p" arm of one of the chromosome 21s. The karyotype was provisionally defined as 46,XX,add(21)(p12).ish der (21)t(21;21)(p12;q22.11)(WCP21q+,PCP21q++,D215259/D21S341/D21S342++)dn. At the age of 4 years and 10 months, a comprehensive psychological examination was performed and the diagnostic criteria for mental retardation were not fulfilled. In comparison with previously published cases of pure partial trisomy 21, this is a rare finding. Additional studies of such rare patients should aid in the study of the pathogenesis of Down syndrome.
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PMID:Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. 2014 12

The purpose of this study was to report significant alterations in orbital vasculature following combined systemic chemoreduction/laser ablation and periocular carboplatin treatment and to discuss treatment implications in two cases of advanced retinoblastoma. Assessment of orbital and ophthalmic vasculature was done following nine cycles of systemic chemotherapy. Intra-arterial chemotherapy was provided 6 months following completion of systemic chemoreduction, when the tumor was clearly active and progressive. Orbital angiography of both eyes, performed prior to the intra-arterial melphalan injection, documented sclerosis of the ophthalmic artery vasculature with delayed transit time, decreased choroidal blush, and anomalous vessels in the eye receiving periocular carboplatin injections. The orbital vasculature in the contralateral eye was not affected. Orbital and ophthalmic vascular alterations may occur with the use of combined systemic chemotherapy and periocular carboplatin. Systemic chemotherapy and focal transpupillary laser tumor ablation, alone, did not appear to impact the orbital and ophthalmic vascular supply. Impaired vascular supply may have significant influence on the impact of the efficacy of standard and future experimental therapeutic options.
J Pediatr Ophthalmol Strabismus 2010 Sep 22
PMID:Ophthalmic vasculature alterations following systemic chemotherapy and periocular Carboplatin treatment of advanced retinoblastoma. 2088 9

A 6-year-old boy presented with neovascular glaucoma secondary to total retinal detachment. Magnetic resonance imaging findings suggested diffuse infiltrating retinoblastoma. Enucleation was subsequently performed and led to a final histopathological diagnosis of advanced Coats' disease. Diffuse infiltrating retinoblastoma and advanced Coats' disease can be indistinguishable from each other on magnetic resonance imaging.
J Pediatr Ophthalmol Strabismus 2010 Aug 23
PMID:A magnetic resonance imaging diagnostic dilemma: diffuse infiltrating retinoblastoma versus Coats' disease. 2115 70

Retinal dysplasia is a rare non-neoplastic congenital disorder characterized by aberrant differentiation of the retina with formation of abnormal tubular and rosette-like structure. Clinically, the lesion presents with leukocoria and mimics a retinoblastoma. One such case is described that occurred unilaterally in a 9-month-old boy.
J Pediatr Ophthalmol Strabismus 2010 Aug 23
PMID:Unilateral retinal dysplasia clinically mimicking retinoblastoma. 2115 72

The authors report a case of advanced retinoblastoma (group E) with iris neovascularization. A 30-month-old girl was diagnosed as having group B retinoblastoma in the right eye and group E retinoblastoma and iris neovascularization with an intraocular pressure of 13 mm Hg in the left eye. The tumors were treated with six cycles of chemotherapy using vincristine (0.9 mg/m(2)), carboplatin (336 mg/m(2)), and etoposide (90 mg/m(2)). At 1 month of follow-up, there was dramatic regression of the retinoblastoma in the left eye and complete resolution of the iris neovascularization, which remained stable at 3 months of follow-up. Chemotherapy is an effective conservative treatment for advanced retinoblastoma and can successfully salvage eyes with neovascularization, particularly before the onset of glaucoma.
J Pediatr Ophthalmol Strabismus 2010 Oct 21
PMID:Resolution of iris neovascularization following chemoreduction of retinoblastoma. 2116 63

The authors report a case of retinocytoma showing no response to chemoreduction. A 30-month-old girl presented with Group B multifocal retinoblastoma in the right eye and Group E retinoblastoma in the left eye. After the first cycle of chemotherapy (vincristine [0.9 mg/m(2)], carboplatin [336 mg/m(2)], and etoposide [90 mg/m(2)]), there was remarkable reduction in the tumor size in the left eye, whereas the right eye tumors did not regress and were diagnosed as retinocytomas/retinomas. Retinocytoma/retinoma shows little to no response to chemoreduction.
J Pediatr Ophthalmol Strabismus 2010 Dec 22
PMID:Retinocytoma shows lack of response to chemoreduction. 2117 16

A 5-month-old infant with bilateral advanced retinoblastoma underwent six cycles of systemic chemotherapy. In an attempt to salvage the second eye, three serial injections of periocular carboplatin were given for persistent vitreous seeding. Following the third injection, the patient developed periocular ecchymosis and magnetic resonance imaging demonstrated abnormal signal characteristics at the site of injection. An orbital biopsy did not demonstrate extraocular tumor extension, but histopathologic examination revealed severe orbital fibrosis and fat necrosis. Following the biopsy, the patient developed an intraocular tumor recurrence at the same location where the carboplatin injections had been given and enucleation was performed to prevent tumor spread. In this case, a child developed orbital scarring and intraocular tumor recurrence at the site of injection following treatment with periocular carboplatin.
J Pediatr Ophthalmol Strabismus 2010 May 21
PMID:Orbital fibrosis and intraocular recurrence of retinoblastoma following periocular carboplatin. 2121 47

Because in children the neurological connections of sight are still plastic, any condition that is able to cause a reduction of visual acuity will also cause cortical suppression of the input from that eye. Early management of amblyopia is essential to its effective treatment. Prompt recognition of strabismus, nystagmus, dyslexia, retinoblastoma and albinism will also lead to an improved visual prognosis for the affected child. In the child with retinoblastoma, it will also vastly improve the prognosis for life.
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PMID:Common problems in pediatric ophthalmology. 2125 72

The authors report a case of diffuse anterior retinoblastoma with ciliary body origin and no retinal involvement. This again raises a question of the cell origin of retinoblastoma. The child was treated with enucleation of the presenting eye.
J Pediatr Ophthalmol Strabismus 2011 Feb 15
PMID:Diffuse anterior retinoblastoma with undetectable retinal involvement. 2132 7

A 22-month-old girl with Group C unilateral retinoblastoma demonstrated dramatic tumor regression after two infusions of 5 mg of intra-arterial melphalan as primary therapy. Complete tumor control without recurrence was noted at 1 year. Retinal and choroidal perfusion was intact and the electroretinogram improved following therapy.
J Pediatr Ophthalmol Strabismus 2011 Jun 07
PMID:Complete regression of retinoblastoma following intra-arterial chemotherapy. 2163 61


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