نتایج جستجو برای: microphthalmos
تعداد نتایج: 826 فیلتر نتایج به سال:
We investigated the potential melanogenic effect of compounds from Zingiber cassumunar Roxb. Our data revealed that chloroform-soluble extract of Z. cassumunar enhanced melanin synthesis in B16F10 melanoma cells. Among the components of the chloroform extract, (E)-4-(3,4-dimethoxyphenyl)but-3-en-1-ol (DMPB) increased melanogenesis in both B16F10 cells and human primary melanocytes. In B16F10 ce...
We performed a pars plicata lensectomy-vitrectomy on 32 patients (47 eyes) with congenital cataracts. Ocular abnormalities, mainly nystagmus, strabismus, and microphthalmia, were present in 29 patients. No complications occurred intraoperatively or postoperatively in 39 eyes with up to 8 1/2 years' follow-up (average 2.2 years). The pars plicata approach is a good surgical technique for the man...
Proteins involved in genetic stability maintenance and safeguarding DNA replication act not only against cancer initiation but could also play a major role in sustaining cancer progression. Here, we report that the FANC pathway is highly expressed in metastatic melanoma harboring the oncogenic microphthalmia-associated transcription factor (MiTF). We show that MiTF downregulation in melanoma ce...
An Oldenburg colt with wry nose was autopsied after having lived for only 30 min. It presented cyanotic oral mucosae, underdeveloped eyes and a right-sided temporal osseous mass. The applicable nomenclature for the defects is discussed, and the potential etiopathogenesis is explored by describing the normal embryonic development of the affected body parts.
Purpose To study the demographic profile, severity and causes of visual impairment among registered patients in a tertiary care hospital in north Kolkata, eastern India, and to assess the magnitude of under-registration in that population. Methods This is a retrospective analytical study. A review of all visually impaired patients registered at our tertiary care hospital during a ten-year per...
Purpose To report the clinical and histopathological findings of atypical intravitreal growth of a retinoblastoma with a multi-branching configuration. Observations A 7-month-old boy was referred to our hospital due to leukocoria in the right eye. Ophthalmic examinations identified multi-branching vessels surrounded by diaphanous tissue behind the lens in the right eye. Imaging modalities sho...
Nanophthalmos, uveal effusion syndrome, and acute angle closure glaucoma (ACG) can present as a continuum in a patient, as is described here. This patient's angle closure was thought to be caused by idiopathic uveal effusion syndrome, and while there are no generally accepted diagnosis criteria for nanophthalmos, our patient fulfilled the criteria as defined by Wu.10 To prevent development of f...
Genes with common profiles of the presence and absence in disparate genomes tend to function in the same pathway. By mapping all human genes into about 1000 clusters of genes with similar patterns of conservation across eukaryotic phylogeny, we determined that sets of genes associated with particular diseases have similar phylogenetic profiles. By focusing on those human phylogenetic gene clust...
Cellular neurothekeoma is a rare cutaneous tumor that occurs more frequently in women. A 68-year-old female with a history of left nasal alar basal cell carcinoma and Guillain-Barré syndrome presented to the clinic with a 3-mm firm skin-colored papule with scattered telangiectasias. Histopathologic examination with immunochemistry of the lesion was consistent with cellular neurothekeoma. It sta...
Mice harboring a mutation in the microphthalmia (mi) gene display a variety of abnormalities, including microphthalmia, depletion of skin melanocytes, deafness, a defect in osteoclasts, and a major decrease in mast cell number and function. However, despite the possible critical role played by this protein in mast cell development and function, characterization of its mRNA and protein synthesis...
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