Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Purpose: Recently, there has been a rise in the interest to understand the composition of indoor dust due to its association with lung diseases such as asthma, chronic obstructive pulmonary disease (COPD) and lung cancer. Furthermore, it has been found that bacterial extracellular vesicles (EVs) within indoor dust particles can induce pulmonary inflammation, suggesting that these might play a role in lung disease. Methods: We performed microbiome analysis of indoor dust EVs isolated from mattresses in apartments and hospitals. We developed diagnostic models based on the bacterial EVs antibodies detected in serum samples via enzyme-linked immunosorbent assay (ELISA) in this analysis. Results: Proteobacteria was the most abundant bacterial EV taxa observed at the phylum level while Pseudomonas, Enterobacteriaceae (f) and Acinetobacter were the most prominent organisms at the genus level, followed by Staphylococcus. Based on the microbiome analysis, serum anti-bacterial EV immunoglobulin G (IgG), IgG1 and IgG4 were analyzed using ELISA with EV antibodies that targeted Staphylococcus aureus, Acinetobacter baumannii, Enterobacter cloacae and Pseudomonas aeruginosa. The levels of anti-bacterial EV antibodies were found to be significantly higher in patients with asthma, COPD and lung cancer compared to the healthy control group. We then developed a diagnostic model through logistic regression of antibodies that showed significant differences between groups with smoking history as a covariate. Four different variable selection methods were compared to construct an optimal diagnostic model with area under the curves ranging from 0.72 to 0.81. Conclusions The results of this study suggest that ELISA-based analysis of anti-bacterial EV antibodies titers can be used as a diagnostic tool for lung disease. The present findings provide insights into the pathogenesis of lung disease as well as a foundation for developing a novel diagnostic methodology that synergizes microbial EV metagenomics and immune assays.

Purpose: Recently, there has been a rise in the interest to understand the composition of indoor dust due to its association with lung diseases such as asthma, chronic obstructive pulmonary disease (COPD) and lung cancer. Furthermore, it has been found that bacterial extracellular vesicles (EVs) within indoor dust particles can induce pulmonary inflammation, suggesting that these might play a role in lung disease. Methods: We performed microbiome analysis of indoor dust EVs isolated from mattresses in apartments and hospitals. We developed diagnostic models based on the bacterial EVs antibodies detected in serum samples via enzyme-linked immunosorbent assay (ELISA) in this analysis. Results: Proteobacteria was the most abundant bacterial EV taxa observed at the phylum level while Pseudomonas, Enterobacteriaceae (f) and Acinetobacter were the most prominent organisms at the genus level, followed by Staphylococcus. Based on the microbiome analysis, serum anti-bacterial EV immunoglobulin G (IgG), IgG1 and IgG4 were analyzed using ELISA with EV antibodies that targeted Staphylococcus aureus, Acinetobacter baumannii, Enterobacter cloacae and Pseudomonas aeruginosa. The levels of anti-bacterial EV antibodies were found to be significantly higher in patients with asthma, COPD and lung cancer compared to the healthy control group. We then developed a diagnostic model through logistic regression of antibodies that showed significant differences between groups with smoking history as a covariate. Four different variable selection methods were compared to construct an optimal diagnostic model with area under the curves ranging from 0.72 to 0.81. Conclusions The results of this study suggest that ELISA-based analysis of anti-bacterial EV antibodies titers can be used as a diagnostic tool for lung disease. The present findings provide insights into the pathogenesis of lung disease as well as a foundation for developing a novel diagnostic methodology that synergizes microbial EV metagenomics and immune assays.

Ameloblastomaa are odontogenic benign tumors with epithelial origin, which are characterized by slow, aggressive, and invasive growth. Most ameloblastomas occur in the mandible, and their prevalence in the maxilla is low. A 27-year-old male visited our clinic with a chief complaint of the left side nasal airway obstruction. Three-dimensional computed tomography showed left maxillary sinus filled with a mass. Except for the perforated maxillary left edentulous area, no invaded or destructed bone was noted. The tumor was excised via Le Fort I osteotomy. The main mass was then sent for biopsy and it revealed acanthomatous ameloblastoma. The lesion in the left maxillary sinus reached the ethmoidal sinus through the nasal cavity but did not invade the orbit and skull base. The tumor was accessed through a Le Fort I downfracture in consideration of the growth pattern and range of invasion. The operation site healed without aesthetic appearances and functional impairments. However, further long-term clinical observation is necessary in the future for the recurrence of ameloblastoma. Conservative surgical treatment could be the first choice considering fast recovery after surgery and the patient's life quality.
Adult ; Ameloblastoma ; Biopsy ; Humans ; Male ; Mandible ; Maxilla ; Maxillary Sinus ; Nasal Cavity ; Nasal Obstruction ; Orbit ; Osteotomy ; Prevalence ; Quality of Life ; Recurrence ; Skull Base

BACKGROUND: Fibrous dysplasia (FD) is a benign bone lesion characterized by the progressive replacement of normal bone with fibro-osseous connective tissue. The maxilla is the most commonly affected area of facial bone, resulting in facial asymmetry and functional disorders. Surgery is an effective management option and involves removing the diseased bone via an intraoral approach: conservative bone shaving or radical excision and reconstruction. CASE PRESENTATION: This case report describes a monostotic fibrous dysplasia in which the patient’s right midface had a prominent appearance. The asymmetric maxillary area was surgically recontoured via the midfacial degloving approach under general anesthesia. Follow-up photography and radiographic imaging after surgery showed the structures were in a stable state without recurrence of the FD lesion. Furthermore, there were no visible scars or functional disability, and the patient reported no postoperative discomfort. CONCLUSIONS: In conclusion, the midfacial degloving approach for treatment of maxillary fibrous dysplasia is a reliable and successful treatment option. Without visible scars and virtually free of postoperative functional disability, this approach offers good exposure of the middle third of the face for treatment of maxillary fibrous dysplasia with excellent cosmetic outcomes.
Anesthesia, General ; Cicatrix ; Connective Tissue ; Facial Asymmetry ; Facial Bones ; Fibrous Dysplasia, Monostotic ; Follow-Up Studies ; Humans ; Maxilla ; Photography ; Recurrence

The social and economic burden of allergic rhinitis (AR) is increasing, with significant effects on the quality of life of patients suffering from AR. Therefore, physicians require evidence-based guidelines regarding the diagnosis, differential diagnosis and proper management management of patients with AR. The Korean Academy of Asthma, Allergy and Clinical Immunology developed new clinical guidelines for the appropriate management of AR, especially in Korean patients. For the core questions (i.e. questions that most practitioners were curious about), several experts in the field of allergology, pediatrics, and otorhinolaryngology developed a set of practical guidelines based on a systematic review of the literature. Furthermore, we determined the level of evidence associated with the recommendations for each answer. In this article, we suggest 15 answers for core questions about the medical treatment of AR.
Allergy and Immunology ; Asthma ; Diagnosis ; Diagnosis, Differential ; Humans ; Hypersensitivity ; Otolaryngology ; Pediatrics ; Quality of Life ; Rhinitis, Allergic*

As the prevalence and socioeconomic burden of allergic rhinitis is steadily increasing every year, it is essential that clinical practitioners diagnose and manage allergic rhinitis in an evidence-based manner. Therefore, the Korean Academy of Asthma, Allergy and Clinical Immunology developed new clinical guidelines for Korean patients and practitioners. We first performed a questionnaire survey to address the core questions, about which clinical practitioners are the most curious. A large group of physicians (allergists), pediatricians, and otorhinolaryngologists developed answers for those questions by performing a systematic literature review and determining the appropriate levels of recommendation. In this article, we propose 11 answers for core questions regarding the diagnosis and differential diagnosis of allergic rhinitis.
Allergy and Immunology ; Asthma ; Diagnosis* ; Diagnosis, Differential ; Humans ; Hypersensitivity ; Prevalence ; Rhinitis, Allergic*

As the prevalence and socioeconomic burden of allergic rhinitis is steadily increasing every year, it is essential that clinical practitioners diagnose and manage allergic rhinitis in an evidence-based manner. Therefore, the Korean Academy of Asthma, Allergy and Clinical Immunology developed new clinical guidelines for Korean patients and practitioners. We first performed a questionnaire survey to address the core questions, about which clinical practitioners are the most curious. A large group of physicians (allergists), pediatricians, and otorhinolaryngologists developed answers for those questions by performing a systematic literature review and determining the appropriate levels of recommendation. In this article, we propose 11 answers for core questions regarding the diagnosis and differential diagnosis of allergic rhinitis.
Allergy and Immunology ; Asthma ; Diagnosis* ; Diagnosis, Differential ; Humans ; Hypersensitivity ; Prevalence ; Rhinitis, Allergic*

In order to prevent sensitization to a new allergen and the development of asthma, practitioners may consider allergen-specific immunotherapy in patients with allergic rhinitis. Additionally, in patients with severe allergic rhinitis refractory to medication, practitioners can also consider surgical management for improving the patients' nasal symptoms. However, there are still no practical guidelines regarding the indications for immunotherapy, the appropriate selection of the allergen, and the optimal duration of therapy. Moreover, no clear indications exist for surgical treatment. Pregnant or lactating women frequently complain of symptoms of rhinitis. However, due to the fear of potential complications to their babies, they avoid medical treatment despite significant discomfort. Therefore, we present 14 answers to core questions about immunotherapy, surgical treatment, and considerations for special circumstances, such as pregnancy and lactation.
Asthma ; Female ; Humans ; Immunotherapy ; Lactation ; Pregnancy ; Rhinitis ; Rhinitis, Allergic*