No abstract available.
Orbit*

No abstract available.
Chickenpox ; Polymerase Chain Reaction ; Pregnancy

No abstract available.
Porokeratosis*

No abstract available.
Acneiform Eruptions ; Bevacizumab

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.
Adenosine Triphosphate ; CHARGE Syndrome* ; Chromatin Assembly and Disassembly ; Coloboma ; Diagnosis ; Ear ; Genetic Counseling ; Heart ; Humans ; Mutation, Missense ; Nasopharynx ; Parturition

No abstract available.
Allografts* ; Kidney Transplantation* ; Risk Factors*

No abstract available.
Cystectomy* ; Lasers, Gas* ; Volatilization*

No abstract available.
Jaw* ; Osteoradionecrosis*

No abstract available.
Jaw* ; Osteoradionecrosis*

Orbital mesenchymal chondrosarcoma, first described by Luis et. al in 1971, is a very rare tumor of characteristic histologic features. A 21-year-woman was admitted with a 4-month histoiry of rapidly progressive proptosis and visual disturbance. Right orbital exenteration was performed under the clinical diagnosis of orbital calcifying tumor. Grossly, the tumor presented as a multibloblated, circumscribed mass that measures 5.5 cm in the greatest dimentsion. Cut sections resembled ordinary chonrosarcoma. Microscopically, the tumor was composed of undifferentiated mesenchymal cells, interspersed nodules of well differentated cartilagenous tissue, areas of gradual transition from undifferentiated mesenchymal cells to cartilage, and hemangiopericytoma-like areas. A brief summary of the histopathological aspect of this tumor and a review of literature are presented.
Female ; Humans