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MmuPV1 infection of Tmc6/Ever1 or Tmc8/Ever2 deficient FVB mice as a model of βHPV in typical epidermodysplasia verruciformis.
PLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFIsolated Third Cranial Nerve Palsy As the Initial Presentation of Primary Central Nervous System Lymphoma: A Rare Case.
Cureus
December 2024
Department of Ophthalmology, Hospital Sultanah Nur Zahirah, Kuala Terengganu, MYS.
This is an unusual case of primary central nervous system lymphoma (PCNSL) with isolated third cranial nerve palsy as the initial manifestation. Neurolymphomatosis (NL) is a rare manifestation of PCNSL. While NL is a rare manifestation of PCNSL, primary vitreoretinal lymphoma (PVRL) can be the presenting feature or a later-involved manifestation.
View Article and Find Full Text PDFPediatric cervical Intravascular Papillary Endothelial hyperplasia (IPEH): A case report of an unusual presentation.
Radiol Case Rep
March 2025
University of Alberta, Department of Otolaryngology - Head & Neck Surgery.
Intravascular Papillary Endothelial hyperplasia (IPEH) are benign vascular lesions rarely described in the pediatric population. We present here the case and the management of a 11-year-old child with a lateral neck mass. The diagnosis of IPEH can be challenging for the clinician and the radiologist as it may mimic other pathologic entities.
View Article and Find Full Text PDFSynchronous primary aneurysmal bone cysts: A rare case report and literature review.
Radiol Case Rep
March 2025
Department of Radiology, John H. Stroger, Jr. Hospital of Cook County, 1969 West Ogden Avenue, Chicago, Illinois 60612, USA.
Aneurysmal bone cysts (ABCs) are rare benign osteolytic tumors which occur most frequently within the first two decades of life and can lead to pathological fractures. They have characteristic imaging and histologic features and have historically been classified into two types: primary ABCs, which are true neoplasms linked to specific oncogenes, and secondary ABCs, which are preceded by other bone lesions. The occurrence of multiple concurrent primary ABCs is exceedingly rare; with only a few cases reported in the published literature.
View Article and Find Full Text PDFA case of ischemic stroke in the basal ganglia presenting with fecal and urinary incontinence as initial clinical manifestations.
BMC Neurol
January 2025
Department of General Internal Medicine, The Nuclear Industry 417 Hospital, Xi'an, 710600, Shaanxi Province, China.
Limb disorders and slurred speech are common clinical symptoms associated with acute ischemic stroke. Although urinary incontinence is a known symptom in many cases of acute ischemic stroke, the simultaneous impairment of both bowel and bladder function is relatively rare. The occurrence of fecal and urinary incontinence as the primary clinical manifestation in minor acute ischemic stroke is especially uncommon.
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