Integrated genomics refers to the use of large-scale, systematically collected data from various sources to address biological and biomedical problems. A critical ingredient to a successful research program in integrated genomics is the establishment of an effective computational infrastructure. In this review, we suggest that the computational infrastructure challenges include developing tools for heterogeneous data organization and access, innovating techniques for combining the results of different analyses, and establishing a theoretical framework for integrating biological and quantitative models. For each of the three areas - data integration, analyses integration, and model integration - we review some of the current progress and suggest new topics of research. We argue that the primary computational challenges lie in developing sound theoretical foundations for understanding the genome rather than simply the development of algorithms and programs.
Computational Biology ; Foundations ; Genome ; Genomics*

Relapsing polychondritis is a rare multisystem rheumatic disease,characterized by recurrent and potentially destructive inflammatory lesions of cartilaginous structures.All types of cartilage & other proteoglycan-rich structures may be involved,resulting in auricular chondritis,laryngotracheal chondritis,ocular symptoms,vasculitis,cardiac abnormalities,skin lesions and glomerulonephritis. The disease may be associated with another connective tissue and autoimmune diseases such as rheumatoid arthritis,systemic lupus erythematosus,Sjogren's syndrome and systemic vasculitis. We experienced a 69-year-old female patient who had been previously diagnosed as Sjogren's syndrome,presenting respiratory tract involvement,episcleritis,auricular chondritis and vestibular dysfunction.
Aged ; Autoimmune Diseases ; Cartilage ; Connective Tissue ; Female ; Glomerulonephritis ; Humans ; Polychondritis, Relapsing* ; Respiratory System ; Sjogren's Syndrome* ; Systemic Vasculitis

Heart failure is a clinical syndrome comprised of a number of symptoms and signs associated with congestion and/or hypoperfusion. Specific pharmacologic therapies have been developed to slow disease progression from early to more advanced stages. Once symptoms have developed, aggressive multimodality interventions are instituted to alleviate symptoms and improve clinical status and quality of life; especially in those patients that present symptoms. Recently, an evolving adjunctive therapeutic modality, that involves using implanted electrical devices: cardiac resynchronization with or without implantable cardioverter defibrillators (ICD). has been used for management. Cardiac resynchronization therapy (CRT) is a proven treatment for selected patients with heart failure-induced conduction disturbances and ventricular dyssynchrony. When used in combination with stable, optimal medical therapy, CRT is designed to reduce symptoms and improve cardiac function by restoring the mechanical sequence of ventricular activation and contraction. This review summarizes the rationale, procedure, clinical trials, and clinical indications for CRT.
Cardiac Resynchronization Therapy* ; Defibrillators, Implantable ; Disease Progression ; Estrogens, Conjugated (USP) ; Heart ; Heart Failure ; Humans ; Quality of Life

OBJECTIVE: Although a high incidence of chronic subdural hematoma (CSDH) following traumatic subdural hygroma (SDG) has been reported, no study has evaluated risk factors for the development of CSDH. Therefore, we analyzed the risk factors contributing to formation of CSDH in patients with traumatic SDG. METHODS: We retrospectively reviewed patients admitted to Hallym University Hospital with traumatic head injury from January 2004 through December 2013. A total of 45 patients with these injuries in which traumatic SDG developed during the follow-up period were analyzed. All patients were divided into two groups based on the development of CSDH, and the associations between the development of CSDH and independent variables were investigated. RESULTS: Thirty-one patients suffered from bilateral SDG, whereas 14 had unilateral SDG. Follow-up computed tomography scans revealed regression of SDG in 25 of 45 patients (55.6%), but the remaining 20 patients (44.4%) suffered from transition to CSDH. Eight patients developed bilateral CSDH, and 12 patients developed unilateral CSDH. Hemorrhage-free survival rates were significantly lower in the male and bilateral SDG group (log-rank test; p=0.043 and p=0.013, respectively). Binary logistic regression analysis revealed male (OR, 7.68; 95% CI 1.18–49.78; p=0.033) and bilateral SDG (OR, 8.04; 95% CI 1.41–45.7; p=0.019) were significant risk factors for development of CSDH. CONCLUSION: The potential to evolve into CSDH should be considered in patients with traumatic SDG, particularly male patients with bilateral SDG.
Craniocerebral Trauma ; Follow-Up Studies ; Hematoma, Subdural, Chronic* ; Humans ; Incidence ; Logistic Models ; Male ; Retrospective Studies ; Risk Factors* ; Subdural Effusion* ; Survival Rate

Contrast-induced encephalopathy after cerebral angiography is a rare complication and until now, only few cases have been reported. This paper reports on contras-induced encephalopathy mimicking meningoencephalitis after cerebral angiography by using iodixanol, an iso-osmolar non-ionic contrast agent. A 58-year-old woman underwent cerebral angiography for the evaluation of multiple intracranial aneurysms. A few hours later, she had persistent headache, vomiting, fever, and seizures. Brain computed tomography (CT) showed sulcal obliteration of right cerebral hemisphere and cerebrospinal fluid profile was unremarkable. The next day, she developed left side hemiparesis, sensory loss, and left-sided neglect with drowsy mentality. Brain magnetic resonance imaging (MRI) showed cerebral swelling with leptomeningeal enhancement in the right parieto-occipital lobe without sign of ischemia or hemorrhage. The patient was managed with intravenous dexamethasone, mannitol and anticonvulsant. There was a progressive neurological improvement with complete resolution of the symptoms at day 6. This observation highlights that contrast-induced encephalopathy can be caused by an iso-osmolar non-ionic contrast agent. This rare entity should be suspected if neurologic deterioration after cerebral angiography is not explained by other frequent causes such as acute infarction or hemorrhage.
Angiography ; Brain ; Brain Diseases* ; Cerebral Angiography* ; Cerebrospinal Fluid ; Cerebrum ; Dexamethasone ; Female ; Fever ; Headache ; Hemorrhage ; Humans ; Infarction ; Intracranial Aneurysm ; Ischemia ; Magnetic Resonance Imaging ; Mannitol ; Meningoencephalitis ; Middle Aged ; Paresis ; Seizures ; Vomiting

Objective: : The adaptive immune response following subarachnoid hemorrhage (SAH) is not well understood. We evaluated and compared the T cell receptor (TCR) immune repertoire of good-grade and poor-grade SAH patients to elucidate the T cell immunology after ictus. Methods: : Peripheral blood from six SAH patients was collected at two different times, admission and at the 7-day follow-up. Composition and variation of the TCR β-chain (TCRB) complimentary determining regions (CDR) 3 repertoire was examined using high-throughput sequencing; the analysis was based on sampling time and disease severity (good vs. poor-grade SAH). Results: : Clonality at admission and follow-up were 0.059 (0.037–0.038) and 0.027 (0.014–0.082) (median, 25th–75th percentile). Poor-grade SAH (0.025 [0.011–0.038]) was associated with significantly lower clonality than good-grade SAH (0.095 [0.079–0.101]). Poor-grade SAH patients had higher diversity scores than good-grade SAH patients. CDR length was shorter in good-grade SAH vs. poor-grade SAH. Differences in clonotype distribution were more prominent in TCRBV gene segments than TCRBJ segments. TCRBV19-01/TCRBJ02-04 and TCRBV28-01/TCRBJ02-04 were the most increased and the most decreased V-J pairs in the 7-day follow-up compared to admission in good-grade SAH. The most increased and decreased V-J pairs in poor-grade SAH patients were TCRBV28-01/TCRBJ02-06 and TCRBV30-01/TCRBJ02-04, respectively. Conclusion : The TCRB repertoire is dynamic in nature following SAH. TCRB repertoire may facilitate our understanding of adaptive immune response according to SAH severity.

Objective: : The adaptive immune response following subarachnoid hemorrhage (SAH) is not well understood. We evaluated and compared the T cell receptor (TCR) immune repertoire of good-grade and poor-grade SAH patients to elucidate the T cell immunology after ictus. Methods: : Peripheral blood from six SAH patients was collected at two different times, admission and at the 7-day follow-up. Composition and variation of the TCR β-chain (TCRB) complimentary determining regions (CDR) 3 repertoire was examined using high-throughput sequencing; the analysis was based on sampling time and disease severity (good vs. poor-grade SAH). Results: : Clonality at admission and follow-up were 0.059 (0.037–0.038) and 0.027 (0.014–0.082) (median, 25th–75th percentile). Poor-grade SAH (0.025 [0.011–0.038]) was associated with significantly lower clonality than good-grade SAH (0.095 [0.079–0.101]). Poor-grade SAH patients had higher diversity scores than good-grade SAH patients. CDR length was shorter in good-grade SAH vs. poor-grade SAH. Differences in clonotype distribution were more prominent in TCRBV gene segments than TCRBJ segments. TCRBV19-01/TCRBJ02-04 and TCRBV28-01/TCRBJ02-04 were the most increased and the most decreased V-J pairs in the 7-day follow-up compared to admission in good-grade SAH. The most increased and decreased V-J pairs in poor-grade SAH patients were TCRBV28-01/TCRBJ02-06 and TCRBV30-01/TCRBJ02-04, respectively. Conclusion : The TCRB repertoire is dynamic in nature following SAH. TCRB repertoire may facilitate our understanding of adaptive immune response according to SAH severity.

Mazabraud syndrome (MS) is a rare and sporadic disorder. It is mainly characterized by fibrous dysplasia (FD) of single or multiple bones and intramuscular myxomas (IM). Data on the prevalence since it was first reported, clinical features, and prognosis are extremely scarce. We report a case of a 59-year-old woman with IM and polyostotic FD. She also had multiple cafe’-au-lait spots suggestive of McCune-Albright syndrome (MAS). On magnetic resonance imaging, there are masses with well-defined heterogeneous enhancement, accompanied by an inner cyst in the vastus lateralis muscle and femur. These radiological results are identical to those of FD. After surgical intervention with excision of intramuscular soft-tissue mass, a diagnosis of IM of MS was confirmed. Given that cafe’-au-lait spots also appeared, the patient was diagnosed with a variant of MS with some of the clinical characteristics of MAS.

OBJECTIVES: In this study, we assessed soft tissue asymmetry that occurred after open reduction of unilateral zygomaticomaxillary complex (ZMC) fractures. We proposed a simple method to assess soft tissue asymmetry after reduction surgery by evaluating the symmetry between the affected and the unaffected sides. The factors affecting soft tissue contour after surgery were also analyzed. MATERIALS AND METHODS: Subjects included patients admitted to Wonkwang University Dental Hospital from 2008 to 2013. Cone-beam computed tomography (CBCT) images of asymmetric patients who underwent open reduction at least 3 months prior were compared with healthy patients. RESULTS: The degree of asymmetry was measured in both the open reduction and control groups. Landmarks that showed a statistically significant difference between the two groups were zygion (1.73+/-0.24 mm), bucclae (1.08+/-0.26 mm), point of cheek (2.05+/-0.33 mm) and frontozygomatic point (1.30+/-0.31 mm). CONCLUSION: When compared with the normal group, asymmetry can occur in the affected side, which usually shows depression of overlying soft tissue and is statistically significantly different. Evaluation of soft tissue asymmetry with CBCT images after open reduction of ZMC fracture is useful.
Cheek ; Cone-Beam Computed Tomography* ; Depression ; Facial Asymmetry ; Humans ; Zygomatic Fractures

PURPOSE: The aim of this study was to investigate matrix metalloproteinase 1 (MMP-1) gene polymorphism (1G/2G at -1607 and A/G at -519) in Korean subject and to assess the association between polymorphism and periodontal status. METHODS: Forty nine generalized aggressive periodontitis (GAP) patients and 57 periodontally healthy children were recruited and genomic DNA was extracted from buccal swab. The polymorphisms of MMP-1 promoter genes were determined by polymerase chain reaction and restriction fragment length product (PCR-RFLP) method. The distribution of genotype and allele frequency was compared between 2 groups by chi-square test. RESULTS: There was a significant difference in the distribution of genotypes and frequency of alleles between the GAP and reference groups at the position - 519 of MMP-1 gene promoter (P< 0.05). Allele G carrier rate was significantly lower in GAP group than that of the reference group (P< 0.001). At the position -1607 of MMP-1 gene promoter, genotype distribution and allele frequency showed no statistically significant difference between the groups. However, in the female group, a significant difference was observed between the groups for the genotype distribution, allele frequency and allele 1G carrier rate (P< 0.05). CONCLUSIONS: The DNA polymorphism at the MMP-1 gene promoter might be associated with GAP in Korean.
Aggressive Periodontitis ; Alleles ; Child ; DNA ; Female ; Gene Frequency ; Genotype ; Humans ; Matrix Metalloproteinase 1 ; Polymerase Chain Reaction ; Polymorphism, Genetic