The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.
Coat Protein Complex I ; Disease Susceptibility ; Genetic Variation ; Genome, Human ; Humans ; Mass Screening ; Polymorphism, Single Nucleotide ; Biomarkers

The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.
Coat Protein Complex I ; Disease Susceptibility ; Genetic Variation ; Genome, Human ; Humans ; Mass Screening ; Polymorphism, Single Nucleotide ; Biomarkers

Reconstruction of calvarial bone defects from congenital anomaly or from bone loss due to traumatic or neoplastic processes remains a significant problem in craniofacial surgery and neurosurgery. To facilitate bone regeneration, there have been many trials such as autologous bone graft or allograft, and the addition of demineralized bone matrix and matrix-derived growth factor. Guided bone regeneration is one of the methods to accelerate bone healing for calvarial bone defects especially in children. Pericranium is one of the most usable structure in bone regeneration. It protects the dura and sinus, and provides mechanical connection between bone fragments. It supplies blood to bone cortex and osteoprogenitor cells and enhances bone regeneration. For maximal effect of pericranium in bone regeneration, authors used pericranium as a flap for covering calvarial defects in surgeries of 11 craniosynostosis patients and achieved satisfactory results: The bone regeneration of original cranial defect in one year after operation was 74.6%(+/-8.5%). This pericranial flap would be made more effectively by individual dissection after subgaleal dissection rather than subperiosteal dissection. In this article, we reviewed the role of pericranium and reported its usefulness as a flap in surgery of craniosynostosis to maximize bone regeneration.
Allografts ; Bone Matrix ; Bone Regeneration ; Child ; Craniosynostoses* ; Equipment and Supplies ; Humans ; Neoplastic Processes ; Neurosurgery ; Transplants

No abstract available.
Chromosome Aberrations ; Comparative Genomic Hybridization*

BCG (Bacillus Calmette-Guerin), which produces resistance to tuberculosis infection, is a vaccine containing live, attenuated Mycobacterium bovis. It induces specific and nonspecific dermatologic complications. The specific reactions include scrofuloderma-like, lupus vulgaris-like, lichen nitidus-like, lymphadenitis and tuberculid. We report a case of papular tuberculid, which was presented as 3-5mm sized erythematous papules on the extremities and face, and BCGitis had developed around the vaccination site after BCG vaccination. Histopathologic examination of the papule and lymph node showed granuloma, consisting of epithelioid cells and lymphocytes.
Epithelioid Cells ; Extremities ; Granuloma ; Lichens ; Lymph Nodes ; Lymphadenitis ; Lymphocytes ; Mycobacterium bovis* ; Tuberculosis ; Tuberculosis, Cutaneous* ; Vaccination*

Neurofibroma may present as multiple or solitary lesions. Although there is no predilection site of solitary lesion, the occurrence on hands is rare. We herein report a case of solitary neurofibroma in 33-year-old female patient, who presented with a 0.5 x 0.5 cm sized, soft, dome-shaped papule on the left palm with typical histologic findings.
Adult ; Female ; Hand ; Humans ; Neurofibroma*

In November 2013, the US Food and Drug Administration (FDA) sent a warning letter to 23andMe, Inc. and ordered the company to discontinue marketing of the 23andMe Personal Genome Service (PGS) until it receives FDA marketing authorization for the device. The FDA considers the PGS as an unclassified medical device, which requires premarket approval or de novo classification. Opponents of the FDA's action expressed their concerns, saying that the FDA is overcautious and paternalistic, which violates consumers' rights and might stifle the consumer genomics field itself, and insisted that the agency should not restrict direct-to-consumer (DTC) genomic testing without empirical evidence of harm. Proponents support the agency's action as protection of consumers from potentially invalid and almost useless information. This action was also significant, since it reflected the FDA's attitude towards medical application of next-generation sequencing techniques. In this review, we followed up on the FDA-23andMe incident and evaluated the problems and prospects for DTC genetic testing.
Classification ; Genetic Testing* ; Genome ; Genomics ; Human Rights ; Humans ; Marketing ; Stifle ; United States Food and Drug Administration

Human genetic variation is represented by the genetic differences both within and among populations, and most genetic variants do not cause overt diseases but contribute to disease susceptibility and influence drug response. During the last century, various genetic variants, such as copy number variations (CNVs), have been associated with diverse human disorders. Here, we review studies on the associations between CNVs and autoimmune diseases to gain some insight. First, some CNV loci are commonly implicated in various autoimmune diseases, such as Fcgamma receptors in patients with systemic lupus erythemoatosus or idiopathic thrombocytopenic purpura and beta-defensin genes in patients with psoriasis or Crohn's disease. This means that when a CNV locus is associated with a particular autoimmune disease, we should examine its potential associations with other diseases. Second, interpopulation or interethnic differences in the effects of CNVs on phenotypes exist, including disease susceptibility, and evidence suggests that CNVs are important to understand susceptibility to and pathogenesis of autoimmune diseases. However, many findings need to be replicated in independent populations and different ethnic groups. The validity and reliability of detecting CNVs will improve quickly as genotyping technology advances, which will support the required replication.
Animals ; Autoimmune Diseases/ethnology/*genetics/immunology ; Autoimmunity/*genetics ; *DNA Copy Number Variations ; *Gene Dosage ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Phenotype ; Population Groups/genetics ; Risk Factors

BACKGROUND: This study aimed to research on how adherence and blood control could make a difference when it comes to develop complications. METHODS: The study's subjects were 255,916 patients who were newly diagnosed with hypertension in 2009 using data collected by National Health Insurance Cooperation. Patients are considered as a group under adherence if visit days and prescription days are more than 300 days. Patients are considered to have successfully controled their hypertension based on actual value measured by National Health Insurance Cooperation and the study takes a look at whether they were diagnosed with complications of cerebrocardiovascular disease in 2012. Chi-square test and logistic regression was used to analyze. RESULTS: Patients who were able to control their hypertension show 0.80 times chance of developing cerebrovascular disease, and 0.89 times chance of developing cardiocerebrovascular disease. The group of adherence shows lower chance of developing complication in general than the group of non-adherence. CONCLUSION: The study revealed that hypertension's constant treatment could control the blood pressure and prevent complications. It is important that encourages patients to effort for persistent treatment for reducing complication.
Blood Pressure ; Humans ; Hypertension* ; Logistic Models ; National Health Programs ; Prescriptions

Solitary fibrous tumor (SFT) belongs to a group of mesenchymal tumors, first described as a primary spindle cell tumor of the pleura in 1931. Recently, SFT has been reported in various locations with no relation to serosal surface, such as the mediastinum, head and neck, orbit and urogenital system. Histopathologically, the tumors have a disorganized or "patternless" arrangement of spindle cells in a collagenous background and prominent vascular channels of varing size. To date, only 22 cases of SFT arising from the nasal cavity and paranasal sinuses have been reported in the world literature. We report a case of SFT localized in the right nasal cavity with extension to the right ethmoid sinus with a review of literature.
Collagen ; Ethmoid Sinus ; Head ; Mediastinum ; Nasal Cavity* ; Neck ; Orbit ; Paranasal Sinuses ; Pleura ; Solitary Fibrous Tumors* ; Urogenital System