• Journal of Genetic Medicine
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• v.11 no.2
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.3 no.1
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• pp.32-37
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• 2003

Ornithine transcarbamylase(OTC) deficiency is the most common of all the urea cycle disorders. In this X-linked disorder, the hemizygote males are more severely affected than heterozygote females. The Heterozygote female may have mild episodic hyperammonemia symptoms in late infancy or childhood(late onset) or no clinical manifestations. Here we report a 6 year-old girl with late onset OTC deficiency who showed recurrent episodic lethargy, mental confusion and ataxia. On mutation analysis using DNA sequencing after PCR amplification of the 10 exons of OTC gene, G to T transversion in codon 221, causing substitution of asparagine for lysine was detected in exon 6.

• Journal of Veterinary Clinics
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• v.37 no.1
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• pp.1-8
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• 2020

Canine otitis externa is a common disorder in small animal practice with prevalence up to 20%. In a large percentage of cases, canine otitis externa is a chronic and recurrent disease also associated with drug-resistant bacteria that is difficult to treat with traditional antibiotics. Photodynamic therapy (PDT) is a new strategy to exterminate pathogenic microorganisms such as bacteria and fungi. The purpose of this study was to investigate the effectiveness of photodynamic therapy against canine otitis externa using three photosensitizer (PS); 5-Aminolevulinic acid (5-ALA) and Methyl aminolevulinic acid (MAL) with semiconductor laser diode (SLD, 635nm of wave length), Chlorophyll-lipoid complex (CLC) with light-emitting diode (LED, 660nm of wave length). After PDT, dogs showed improved Otitis Index Score (OTIS) in swelling, exudate, odor, and pain. A result of the cytology test revealed decrease of bacteria and malassezia count in the oil immersion field and colony forming units count. PDT was effective as a bacteriocide of methicillin-resistant Staphylococcus pseudintermedius (MRSP) and a fungicide of Malassezia pachydermatis. MAL and 5-ALA were more effective PS against canine otitis externa than CLC. These results suggest that PDT is a new strategy to exterminate pathogenic microorganisms such as bacteria and fungi. PDT can be considered as a new therapeutic approach for canine recurrent otitis externa and a countermeasure to drug resistance that is a disadvantage of traditional antibiotic and antifungal therapy.

• Journal of Radiation Industry
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• v.3 no.1
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• pp.25-29
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• 2009

Microarrays can be used to screen thousands of binding events in a parallel and high throughput fashion and are of major importance in disease diagnosis and drug discovery. The use of radioisotope is conventionally regarded as one of the most sensitive detection methods. Atherosclerosis is a common disorder affecting arterial blood vessels. It happens when fat, cholesterol, and other substances made in the arterial blood vessels form a hard substances called plaque. Lipoprotein-associated phospholipase $A_2$ ($Lp-PLA_2$), a phospholipase $A_2$ enzyme, is used as a marker for cardiac disease. The detection of $Lp-PLA_2$ was accomplished by using radioactive [$^3H-acetyl$] PAF as a substrate and a feasibility study on RI biochip application to detection of $Lp-PLA_2$, a risk factors of atherosclerosis was performed. Inhibitive activity of a native plant extract was also determined by using the RI biochip. It was found to be applicable to a high-throughput screening of inhibitors for developing atherosclerosis therapeutic agents.

• The Korean Journal of Legal Medicine
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• v.40 no.2
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• pp.61-64
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• 2016

Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling.

• Journal of Dental Anesthesia and Pain Medicine
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• v.19 no.5
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• pp.289-294
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• 2019

Background: Pain, limitations in opening, asymmetrical jaw movements, and temporomandibular joint (TMJ) sounds are the most common findings in temporomandibular joint disorders (TMDs), which causes excruciating pain, inflammation of the surrounding muscles, posterior fibers, and synovial fluid. This study aimed to evaluate and compare the effects of ultrasound heat therapy and low-level laser therapy (LLLT) in reducing TMD-related pain. Methods: This prospective study included 42 patients (age range, 25-45 years), who were divided into two groups of 21 patients each. All patients were prescribed a non-steroidal anti-inflammatory drug (NSAID) twice a day for 5 days for temporary relief of pain prior to the commencement of treatment. Patients were kept on a soft diet and asked to restrict mouth opening during the same period. Fifteen sessions of LLLT (Group A) or ultrasound therapy (Group B) were administered to the affected side. Results: Post-therapy, the mean visual analog scale score for group A and group B was 4.81 (2.01) and 6.19 (1.20), respectively; the difference was statistically significant and favoring the LLLT group. Similarly, the mean mouth opening for group A and group B was 3.99 (0.40) and 3.65 (0.41), respectively; the difference was statistically significant and favoring the LLLT group. Conclusion: Our study recommends LLLT for treating TMD-related pain with no underlying bony pathology.

• Journal of the Society of Cosmetic Scientists of Korea
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• v.28 no.1
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• pp.99-115
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• 2002

Tests of stability and toxicity, and clinical evaluation of anti-acne activity suggest that cryptotanshinone, a constituent of the roots of Salvia miltiorrhiza Bunge, is an effective active ingredient for acne vulgaris treatments. Acne vulgaris, called acne or pimples, is the most common disease of the pilosebaceous follicle unit of the skin. It affects nearly 80% of people between the ages of 11 and 30. Approximately 30% of teenagers have acne of sufficient severity to require medical treatment. Acne is a follicular disorder of the skin. It occurs in specialized pilosebaceous units on the face and body. Acne develops when these specialized follicles undergo pathologic alterations that result in the formation of non-inflammatory lesions (comedones) and inflammatory lesions (papules, pustules and nodules). An abnormality of keratinizing epithelium of these follicles, thought to be due to the action of sebum synthesized and secreted by the androgen-sensitive sebaceous glands, leads to inflammation induced by the follicular bacterium Propionibacterium acnes. Therapy involves treatments that modify these pathogenic factors and includes drugs with antikeratinizing, antibacterial and antiseborrheic actions. Acne vulgaris is a very frequent disease, seen primarily in adolescents, involving the sebaceous follicles. Acne vulgaris is characterized by a great variety of clinical inflammatory and non-inflammatory lesions: comedones, papules, pustules, nodules, cysts and scars. Acne vulgaris is a multi-factorial disease. Although its pathogenicity is unclear, extensive studies have shown that hyperseborrhea, superinfection by P. acnes and endocrinologic androgenic changes play a role in the development of acne vulgaris.

• Journal of Ginseng Research
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• v.45 no.6
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• pp.706-716
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• 2021

Background: Irritable bowel syndrome (IBS), the most common functional gastrointestinal disorder, is characterized by chronic abdominal pain and bowel habit changes. Although diverse complicated etiologies are involved in its pathogenesis, a dysregulated gut-brain axis may be an important factor. Red ginseng (RG), a traditional herbal medicine, is proven to have anti-inflammatory effects and improve brain function; however, these effects have not been investigated in IBS. Methods: Three-day intracolonic zymosan injections were used to induce post-infectious human IBS-like symptoms in mice. The animals were randomized to receive either phosphate-buffered saline (CG) or RG (30/100/300 mg/kg) for 10 days. Amitriptyline and sulfasalazine were used as positive controls. Macroscopic scoring was performed on day 4. Visceral pain and anxiety-like behaviors were assessed by colorectal distension and elevated plus maze and open field tests, respectively, on day 10. Next-generation sequencing of gut microbiota was performed, and biomarkers involved in gut-brain axis responses were analyzed. Results: Compared to CG, RG significantly decreased the macroscopic score, frequency of visceral pain, and anxiety-like behavior in the IBS mice. These effects were comparable to those after sulfasalazine and amitriptyline treatments. Moreover, RG significantly increased the proliferation of beneficial microbes, including Lactobacillus johnsonii, Lactobacillus reuteri, and Parabacteroides goldsteinii. RG significantly suppressed expression of IL-1β and c-fos in the gut and prefrontal cortex, respectively. Further, it restored the plasma levels of corticosterone to within the normal range, accompanied by an increase in adrenocorticotropic hormone. Conclusion: RG may be a potential therapeutic option for the management of human IBS.

• Asian Spine Journal
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• v.12 no.6
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• pp.1117-1122
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• 2018

Study Design: Prospective study. Purpose: To assess the prevalence of periodontoid calcification and its associations with acute cervical pain. Overview of Literature: Calcium pyrophosphate dihydrate (CPPD) deposition disease is a common rheumatological disorder that occurs especially in elderly patients. Although CPPD crystals induce acute arthritis, these crystals are not usually symptomatic. Calcification surrounding the odontoid process (periodontoid calcification) has been reported to induce inflammation, resulting in acute neck pain. This disease is called crowned dens syndrome. Whether calcification induces inflammation or whether the crystals are symptomatic remains unclear. Methods: The prevalence of periodontoid calcification at the atlas transverse ligament was examined by computed tomography of the upper cervical spine in patients suspected of brain disease but no cervical pain (control group, n=296), patients with pseudogout of the peripheral joints but no cervical pain (arthritis group, n=41), and patients with acute neck pain (neck pain group, n=22). Next, the correlation between the prevalence of periodontoid calcification and symptoms was analyzed. Results: In the control group, 40 patients (13.5%) showed periodontoid calcification with no significant difference in the prevalence with gender. The prevalence of calcification increased significantly with age (p=0.002). In the arthritis group, 26 patients (63.4%) reported periodontoid calcification. In the neck pain group, 14 patients (63.6%) reported periodontoid calcification. Multiple logistic regression analysis by age and group revealed that higher age, inclusion in the arthritis group, and inclusion in the neck pain group significantly affected the prevalence of calcification. Conclusions: Our results cumulatively suggest that periodontoid calcification is an aging-related reaction and that calcification per se does not always cause neck pain. Periodontoid calcification was observed more frequently in patients with pseudogout of the peripheral joints and in those with acute neck pain than in asymptomatic control patients.

• Asian Spine Journal
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• v.12 no.6
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• pp.1017-1027
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• 2018

Study Design: This retrospective study was conducted including 18 patients who underwent posterior-only stabilization and fusion procedure for pseudoarthrosis in the ankylosed spine from October 2007 to May 2015. Purpose: This study aimed to describe the treatment outcomes in 18 patients with Andersson lesion (AL) who were managed using the posterior-only approach. Literature Review: AL is an unstable, localized, vertebral, or discovertebral lesion of the spine. It is observed in patients with ankylosing spondylitis. The exact etiology of this disorder remains unclear, and the treatment guidelines are not clearly described. Methods: We analyzed 18 patients with AL who were treated with posterior long segment spinal fusion without any anterior interbody grafting or posterior osteotomy. Pre- and postoperative radiography, computed tomography, and recent follow-up images were examined. The pre- and postoperative Visual Analog Scale score and the Oswestry Disability Index score were evaluated for all patients. Whiteclouds' outcome analysis criteria were applied at the follow-up. Moreover, at study completion, patient feedback was collected; all the patients were asked to provide their opinion regarding the surgery and were asked whether they would recommend this procedure to other patients and them self undergo the same procedure again if required. Results: The most common site was the thoracolumbar junction. The symptom duration ranged from 1 month to 10 years preoperatively. Most patients experienced fusion by the end of 1 year, and the fusion mass could be observed as early as 4 months. Pseudoarthrosis void of up to 2.5 cm was noted to be healed in subsequent imaging. In addition, clinically, the patients reported good symptomatic relief. No patient required revision surgery. Whiteclouds' outcome analysis score at the latest follow-up revealed goodto-excellent outcomes in all patients. Conclusions: ALs can be treated using the posterior-only approach with long segment fixation and posterior spinal fusion. This is a safe, simple, and quick procedure that prevents the morbidity of anterior surgery.