• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제32권1호
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• pp.65-68
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• 2006

Muscular involvement in Behcet's disease is rare manifestation in spite of basic characteristic that is vasculitis can invade multi-organ of the entire body. A few cases has been announced involving the lower extremities, the arm and generalized weakness. Like our case, myositis involving the masticatory muscles with clinically diagnosed Behcet's disease was presented with the magnetic resonance imaging (MRI) and the clinical findings, which is, not yet documented in the literature.

• Journal of Korean Neurosurgical Society
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• 제48권6호
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• pp.547-550
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• 2010

Spinal cysticercosis is a very uncommon manifestation of neurocysticercosis which is caused by the larvae of Taenia solium. However, it can develop as a primary infection through blood stream or direct larval migration. It can result in high recurrence and severe neurologic morbidity if not treated appropriately. We report the case of a 43-year-old woman who presented with severe lower back pain and left leg radiating pain in recent 2 weeks. Magnetic resonance image (MRI) of lumbar spine demonstrated extruded disc at the L5-S1 level combined with intradural extramedullary cystic lesion. We performed the open lumbar microdiscectomy (OLM) at L5-S1 on the left with total excision of cystic mass. After surgery, the patient showed an improvement of previous symptoms. Diagnosis was confirmed by histopathological examination as intradural extramedullary cysticercosis. We discuss clinical features, diagnostic screening, and treatment options of spinal cysticercosis.

• Clinical and Experimental Pediatrics
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• 제49권2호
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• pp.129-135
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• 2006

Chronic recurrent abdominal pain is a common manifestation in children. Functional abdominal pain is the most common cause of chronic abdominal pain and can be diagnosed properly by the physician without the requirement of specific evaluation when there are no alarm symptoms or signs. Functional abdominal pain is categorized as functional dyspepsia, irritable bowel syndrome, functional abdominal pain, abdominal migraine, and aerophagia, according to the Rome II criteria for pediatric functional gastrointestinal disorders. New concepts on the pathogenesis of functional abdominal pain include brain-gut interaction, visceral hypersensitivity, gastrointestinal dysmotility, inflammation, autonomic dysfunction, genetic predisposition, and triggering factors including psycho-social stress.

• Journal of Korean Neurosurgical Society
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• 제53권6호
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• pp.374-376
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• 2013

The abducens nerve paresis generally can aid in the presumptive diagnosis of abducens schwannoma along with the typical radiological features of schwannomas. The authors present a case of a 76-year-old male patient with a abducens schwannoma without abducens nerve paresis. Peroperatively, abducens nerve located in the cerebellopontine cistern had normal in contour and diameter, despite the mass originated from this nerve. We hypothesize that anatomic location of abducens nerve may affect the vector of tumor growth to prevent destruction of its origin, the abducens nerve.

• Diabetes and Metabolism Journal
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• 제42권6호
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• pp.465-471
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• 2018

My professional journey to understand the glucose homeostasis began in the 1990s, starting from cloning of the promoter region of glucose transporter type 2 (GLUT2) gene that led us to establish research foundation of my group. When I was a graduate student, I simply thought that hyperglycemia, a typical clinical manifestation of type 2 diabetes mellitus (T2DM), could be caused by a defect in the glucose transport system in the body. Thus, if a molecular mechanism controlling glucose transport system could be understood, treatment of T2DM could be possible. In the early 70s, hyperglycemia was thought to develop primarily due to a defect in the muscle and adipose tissue; thus, muscle/adipose tissue type glucose transporter (GLUT4) became a major research interest in the diabetology. However, glucose utilization occurs not only in muscle/adipose tissue but also in liver and brain. Thus, I was interested in the hepatic glucose transport system, where glucose storage and release are the most actively occurring.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• Korean Circulation Journal
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• 제48권11호
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• pp.951-963
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• 2018

HMG-CoA reductase inhibitors, i.e. statins, are effective in reducing cardiovascular disease events but also in cardiac-related and overall mortality. Statins are in general well-tolerated, but currently the concerns are raised if statins may increase the risk of new-onset diabetes mellitus (NOD). In this review, the possible effects of statins on organs/tissues being involved in glucose metabolism, i.e. liver, pancreas, adipose tissue, and muscles, had been discussed. The net outcome seems to be inconsistent and often contradictory, which may be largely affected by in vitro experimental settings or/and in vivo animal conditions. The majority of studies point out statin-induced changes of regulations of isoprenoid metabolites and cellassociated cholesterol contents as predisposing factors related to the statin-induced NOD. On the other hand, it should be considered that dysfunctions of isoprenoid pathway and mitochondrial ATP production and the cholesterol homeostasis are already developed under (pre)diabetic and hypercholesterolemic conditions. In order to connect the basic findings with the clinical manifestation more clearly, further research efforts are needed.

• Journal of Medicine and Life Science
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• 제20권1호
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• pp.43-47
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• 2023

Streptococcus suis (S. suis) is an emerging zoonotic pathogen that causes bacterial meningitis in humans. S. suis is an encapsulated gram-positive facultative anaerobic bacterium and is an important pathogen in pigs. This infectious disease usually manifests in humans as meningitis, endocarditis, septicemia, and arthritis. Most cases originate in Southeast Asia, and human S. suis infections are often reported in countries with a high density of pigs. Meningitis is a common clinical manifestation of S. suis infection. Moreover, hearing loss is a common complication that can be bilateral, profound, and/or permanent. This report presents two cases of bacterial meningitis and hearing loss caused by S. suis in patients without a history of direct exposure to pigs in an intensive pork industry region.

• Journal of Oral Medicine and Pain
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• 제47권1호
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• pp.62-66
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• 2022

Recent case studies raised the possibility that cutaneous and oral mucosal manifestations may be associated with the coronavirus disease 2019 (COVID-19) vaccination. A healthy 43-year-old male presented an acute aphthous stomatitis following Moderna COVID-19 vaccination. This rare case draws attention to a potential etiologic effect for oral mucosal manifestation from COVID-19 vaccination. Further investigation to shed light on prevalence and pathophysiologic association of this oral lesion and COVID-19 vaccination deserve attention.

• Journal of Genetic Medicine
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• 제20권1호
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.