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1.  MHC associations with clinical and autoantibody manifestations in European SLE 
Genes and immunity  2014;15(4):210-217.
Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease affecting multiple organ systems and characterized by autoantibody formation to nuclear components. Although genetic variation within the major histocompatibility complex (MHC) is associated with SLE, its role in the development of clinical manifestations and autoantibody production is not well defined. We conducted a meta-analysis of four independent European SLE case collections for associations between SLE sub-phenotypes and MHC single-nucleotide polymorphism genotypes, human leukocyte antigen (HLA) alleles and variant HLA amino acids. Of the 11 American College of Rheumatology criteria and 7 autoantibody sub-phenotypes examined, anti-Ro/SSA and anti-La/SSB antibody subsets exhibited the highest number and most statistically significant associations. HLA-DRB1*03:01 was significantly associated with both sub-phenotypes. We found evidence of associations independent of MHC class II variants in the anti-Ro subset alone. Conditional analyses showed that anti-Ro and anti-La subsets are independently associated with HLA-DRB1*0301, and that the HLA-DRB1*03:01 association with SLE is largely but not completely driven by the association of this allele with these sub-phenotypes. Our results provide strong evidence for a multilevel risk model for HLA-DRB1*03:01 in SLE, where the association with anti-Ro and anti-La antibody-positive SLE is much stronger than SLE without these autoantibodies.
PMCID: PMC4102853  PMID: 24598797
Sub-phenotype analysis; MHC; meta-analysis; genetics; systemic lupus erythematosus; Europeans
3.  Giant Cell Tumor of the Mandible 
A 53-year-old woman presented with left mandibular area pain, trismus, and facial numbness that had persisted for 4 years. Physical examination revealed a 3×5 cm, hard, non-tender, and round mass on the left mandibular area. Computed tomography and magnetic resonance imaging revealed an expansile tumor involving the left mandibular ramus and temporomandibular joint area with bone destruction, extending to the base of middle cranial fossa and left zygomatic bone. The mass at the segment of left mandible and zygomatic bone, and base of middle cranial fossa was removed. Pathological examination of the mass revealed a giant cell tumor. The defect was reconstructed with iliac bone for the mandible and temporal bone and fascia for the cranial bone and dura. The case is described along with a review of the literature.
PMCID: PMC3314806  PMID: 22468203
Giant cell tumor; Skull; Mandible
4.  Clinical Presentation and Management of Jugular Foramen Paraganglioma 
Jugular foramen paraganglioma is a locally invasive, benign tumor, which grow slowly and causes various symptoms such as pulsatile tinnitus and low cranial nerve palsy. Complete surgical resection is regarded as the ideal management of these tumors. The goal of this study is to identify the clinical characteristics and most effective surgical approach for jugular foramen paraganglioma.
Retrospective analysis of 9 jugular foramen paraganglioma patients who underwent surgical resection between 1986 and 2005 was performed. Clinical records were reviewed for analysis of initial clinical symptoms and signs, audiological examinations, neurological deficits, radiological features, surgical approaches, extent of resection, treatment outcomes and complications.
Most common initial symptom was hoarseness, followed by pulsatile tinnitus. Seven out of 9 patients had at least one low cranial nerve palsy. Seven patients were classified as Fisch Type C tumor and remaining 2 as Fisch Type D tumor on radiologic examination. Total of 11 operations took place in 9 patients. Total resection was achieved in 6 cases, when partial resection was done in 3 cases. Two patients with partial resection received gamma knife radiosurgery (GKS), when remaining 1 case received both GKS and two times of revision operation. No mortality was encountered and there were few postoperative complications.
Neurologic examination of low cranial nerve palsy is crucial since most patients had at least one low cranial nerve palsy. All tumors were detected in advanced stage due to slow growing nature and lack of symptom. Angiography with embolization is crucial for successful tumor removal without massive bleeding. Infratemporal fossa approach can be considered as a safe, satisfactory approach for removal of jugular foramen paragangliomas. In tumors with intracranial extension, combined approach is recommended in that it provides better surgical view and can maintain the compliance of the patients.
PMCID: PMC2671826  PMID: 19434288
Jugular foramen paraganglioma; Infratemporal approach; Intracranial extension; Combined approach

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