• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.2
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• pp.37-41
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• 2018

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

• Journal of Breast Disease
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• v.6 no.2
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• pp.79-83
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• 2018

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.113-116
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• 2019

Myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) are distinct disorders. ALS affects motor neurons that control muscle movement, while MG controls communication between neurons and muscles, which occurs at neuromuscular junctions. However, on rare occasions, ALS develops after MG and vice versa. The coexistence of the two diseases represents a diagnostic challenge and requires thoughtful interpretation of clinical features. We present the case of a 53-year-old Korean male who developed ALS after MG, confirmed by clinical and electrophysiological follow-up.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.55-59
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• 2021

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

• Imaging Science in Dentistry
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• v.51 no.2
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• pp.195-201
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• 2021

Unusual radiographic findings of intraosseous ameloblastoma have been reported and discussed. In the case discussed herein, cone-beam computed tomography (CBCT) clearly showed many radiographic features that were ambiguous on conventional radiographs, including an ill-defined periphery, extensive superficial buccal extension with minimal lingual extension, obvious bucco-crestal expansion, and multiple triangular (Codman's triangle-like) areas of periosteal reaction. Based on the above-mentioned findings, the differential diagnosis was a long-term infected benign or low-grade malignant lesion. An incisional biopsy was performed, and the histopathologic diagnosis was acanthomatous ameloblastoma. Recurrence of the lesion was clearly detected on CBCT images at 4 and 8 years after surgery. These unusual radiographic findings have never been reported to be associated with ameloblastoma, and thus may contribute to novel concepts in radiographic interpretation in the future. This report also underscores the important role played by CBCT as a comprehensive diagnostic tool and for definite confirmation of recurrence.

• Journal of Species Research
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• v.10 no.3
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• pp.287-300
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• 2021

Three new species of Myzomolgus are described as associates of sipunculans from a tidal flat in Phuket, Thailand. As diagnostic features, Myzomolgus leptocercosus n. sp. has elongate caudal rami which are 10.7 times longer than wide, 5 setae and a conical process on the first antennular segment, an armature formula 1, 0, 1+sucker, and 6 of antenna, and an inner coxal seta on all swimming legs. Myzomolgus spatulatus n. sp. lacks a rostrum, but bears 4 setae and a spatulate process on the first antennular segment, an armature formula 0, 0, 2+sucker, and 6 of the antenna, the inner coxal seta on legs 1-3, and 5 armture elements on the third endopodal segment of legs 1-3. Myzomolgus cucullatus n. sp. has short caudal rami which are 1.60 times longer than wide, a broad, hood-like tergite of fouth pedigerous somite, 4 setae only on the first antennular segment, the armature formula 0. 0. 2+sucker, and 6 of the antenna, and no iiner coxal seta on the swimming legs.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.73-78
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• 2022

Some cases of myasthenia gravis (MG) with abnormal spontaneous activity (ASA) in needle electromyography (EMG) have been reported, but the associated clinical characteristics remain to be fully elucidated. We report the case of a 36-year-old male with MG in whom ASA was observed. This study highlights that ASA may appear in needle EMG in patients with severe MG who predominantly have bulbar and/or respiratory involvement. Care is needed because this often accompanies myopathic features and can be misdiagnosed as myopathy.

• Animal Systematics, Evolution and Diversity
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• v.22 no.2
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• pp.209-215
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• 2006

Two rare ciliates from soil under the oak tree and mosses in the top of mountain in Korea were identified as Gonostomum algicola Gellert, 1942 and G. gonostomoida (Hemberger, 1985), respectively. There is little information on their morphological features, therefore their detailed redescriptions are needed. The description was based on the observation of living and protargol impregnated specimens, and biometric analysis. Their diagnostic characteristics are as follows. Gonostomum algicola; $88-113\times30-40{\mu}m$ in vivo, colourless cortical granules, 20-31 adoral membranelles, two fronto-terminal cirri, five fronto-ventral cirri, no mid-ventral cirri, two transverse cirri, two to three micronuceli. Gonostomum gonostomoida; $60-121\times21-40{\mu}m$ in vivo, no cortical granules, 27-34 adoral membranelles, no fronto-terminal cirri, two fronto-ventral cirral rows with each row bearing three cirri, midventral cirral row with 11-14 cirri, two to three transverse cirri, one to six micronuceli. So far, total three species within the genus Gonostomum have been recorded from Korea by the present study.

• Journal of Yeungnam Medical Science
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• v.39 no.1
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• pp.3-11
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• 2022

Lymphoma is the most common primary tumor of the orbit, accounting for 55% of all orbital malignancies. When divided into histopathological subtypes, extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) comprises the largest proportion. Clinical manifestations are unspecific, but in patients with slow-growing painless orbital mass, or red conjunctival lesion suggestive of 'salmon patch', ocular adnexa lymphoma (OAL) should be suspected. Although the pathogenetic mechanism of ocular adnexal MALT lymphoma (OAML) is not yet fully understood, the relationship between OAML and Chlamydia psittaci has been hypothesized recently, similar to that between gastric MALT lymphoma and Helicobacter pylori. This suggests a new treatment option for OAML; bacterial eradication therapy with systemic antibiotics. Several other treatment methods for OAML have been introduced, but no treatment guidelines have been established yet. In this article, we summarize the current knowledge on the clinical features, pathogenesis, diagnostic methods, therapeutic strategies, and prognosis of OAML.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.