• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• Journal of Korean Neurosurgical Society
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• v.63 no.6
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• pp.730-737
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• 2020

Objective : Spinal degeneration is a progressive disease, worsening over time. Lumbar degenerative disease (LDD) is a major spinal disease in elderly patients. Surgical treatment is considered for medically intractable patients with LDD and reoperation after primary surgery is not uncommon. The surgical outcome is occasionally unpredictable because of comorbidities. In the present study, the relationship between comorbidities and the incidence of reoperation for LDD over time was determined. Methods : The claims data of the health insurance national database were used to identify a cohort of patients who underwent spinal surgery for LDD in 2009. The patients were followed up until 2016. Medical comorbidity was assessed according to the Charlson comorbidity index (CCI). Cox proportional hazard regression modeling was used to identify significant differences in sex, surgery, age, causative disease, and comorbidity. Results : The study cohort included 78241 patients; 10328 patients (13.2%) underwent reoperation during the observation period. The reoperation rate was statistically higher (p<0.01) in males, patients 55-74 years and 65-74 years of age, and patients with decompression or discectomy. Significant association was found between increasing reoperation rate and CCI score (p<0.01). Based on multivariate analysis of comorbidities, the significantly higher reoperation rates were observed in patients with peripheral vascular disease, pulmonary lung disease, peptic ulcer, diabetes, and diabetes complications (p<0.01). Conclusion : The study results indicate the reoperation rate for LDD is associated with patient comorbidities. The comorbidities identified in this study could be helpful in future LDD studies.

• The Korean Journal of Nuclear Medicine
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• v.22 no.1
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• pp.27-31
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• 1988

In Graves' disease, changes in orbital tissue and structure are casued by inflammatory infiltation, which induces increase of capillary permeability and breakdown of blood-tissue barriers. Using the uptake of $^{99m}Tc-DTPA$ in inflammatory lesion, Eye/Brain radioactivity ratios in brain scintigraphy were evaluated in 15 normal controls and 40 Graves' patients. The results were as follows; 1) Eye/Brain radioactivity ratio was significantly higher in Graves' ophthalmopthy group than in control group (p < 0.005). 2) In Graves' ophthalmopathy, Eye/Brain radioactivity ratio was significantly higher in active (progressive) group than in inactive (non-progressive) group (p < 0.05). 3) There was no correlation between class of ATA classification of Graves' ophthalmopathy and Eye/Brain radioactivity ratio. 4) There was no correlation between Eye/Brain radioactivity ratio and serum activity of TBII. In conclusion, Eye/Brain radioactivity ratio using $^{99m}Tc-DTPA$ brain scintigraphy may be useful to determine the activity of Graves' ophthalmopathy and whether treatment of Graves' ophthalmopathy is necessary or not.

• Physical Therapy Korea
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• v.22 no.3
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• pp.98-105
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• 2015

Muscular dystrophy is a hereditary musculoskeletal disorder caused by a mutation in the dystrophin gene. Duchenne muscular dystrophy (DMD) is one of the most common, and progresses relatively faster than other muscular dystrophies. It is characterized by progressive myofiber degeneration, muscle weakness and ultimately ambulatory loss. Since it is an X-linked recessive inheritance, DMD is mostly expressed in males and rarely expressed or less severe in females. The most effective measurement tool for DMD is magnetic resonance imaging (MRI), which allows non-invasive examination of longitudinal measurement. It can detect progressive decline of skeletal muscle size by measuring a maximal cross-sectional area of skeletal muscle. Additionally, other techniques in MRI, like $T_2$-weighted imaging, assess muscle damage, including inflammation, by detecting changes in $T_2$ relaxation time. Current MRI techniques even allow quantification of metabolic differences between affected and non-affected muscles in DMD. There is no current cure, but physical therapist can improve their quality of life by maintaining muscle strength and function, especially if treatment (and other forms of medical intervention) begins in the early stages of the disease.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1165-1169
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• 2002

Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with intravenous gammaglobulin and Prednisolone. Painful muscle cramps were gradually improved, but the scalp condition did not change. Satoyoshi syndrome should be considered in children with unexplained muscle spasms and alopecia.

• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.63-68
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• 2010

Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease that is associated with mutation in the tuberous sclerosis genes, renal angiomyolipomas, lymphatic spread and a remarkable female gender predilection. The pathology of LAM is represented by the proliferation of immature smooth muscle cells in the walls of airways, and venules and lymphatic vessels in the lung. The clinical course of LAM is characterized by progressive dyspnea on exertion, recurrent pneumothorax and collections of chylous fluid. The diagnosis of pulmonary LAM can be made on chest X-ray, a high-resolution CT scan and lung biopsy. We experienced a case of pulmonary lymphangioleiomyomatosis in a 28-years-old female patient who had suffered from progressive dyspnea on exertion, so we report on it along with a brief review of the relevant literature.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.5
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• pp.2021-2023
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• 2012

Purpose: DBC2 (Deleted in Breast Cancer 2) has been indicated to be a tumor suppressor gene in many cancers including lung adenocarcinoma recently. In this study, we aimed to explore the expression status of DBC2 in different subtypes of lung adenocarcinoma (from pre-invasive to invasive lesions), and to determine if downregulation becomes more marked with pathological progression. Methods: We collected 172 tissue samples from different subtypes of lung adenocarcinoma and investigated the frequency of DBC2 loss by immunohistochemistry. Results: Our results indicated that DBC2 downregulation is a relatively frequent event in lung adenocarcinoma. Moreover, as the adenocarcinoma subtype turns to be more invasive, more downregulation occurred. Conclusion: We conclude that loss of DBC2 expression is an early and progressive event in the pathogenesis of lung adenocarcinoma. Positive DBC2 immunohistochemistry may become an indicator for early stage disease and better prognosis of lung adenocarcinomas.

• Journal of Korean Neurosurgical Society
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• v.53 no.6
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• pp.323-330
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• 2013

Objective : To develop a simple, reproducible model of disc degeneration in rabbits through percutaneous annular puncture and to confirm the degree of degeneration over time. Methods : Fifteen New Zealand white rabbits (4 to 5 months old and weighing approximately 3 to 3.5 kg each) underwent annular puncture of the L2-L3, L3-L4, and L4-L5 discs. Rabbits were sacrificed at 4, 8, or 20 weeks after puncture. For a longitudinal study to assess changes in disc height over time, serial X-rays were performed at 0, 2, 4, 8, and 20 weeks for rabbits in the 20-week group. Upon sacrifice, the whole spinal column and discs were extracted and analyzed with magnetic resonance imaging (MRI), real time reverse transcriptase-polymerase chain reaction, and histological staining. Results : The X-rays showed a slow, progressive decrease in disc height over time. Significant disc space narrowing compared to preoperative disc height was observed during the time period (p<0.001). The MRI grade, aggrecan, and matrix metalloprotease-13 mRNA expression and hematoxylin and eosin/safranin O/anti-collagen II staining were consistently indicative of degeneration, supporting the results of the X-ray data. Conclusion : Percutaneous annular puncture resulted in slow, reproducible disc degeneration that was confirmed by radiology, biochemistry, and histology. This in vivo model can be used to study and evaluate the safety and efficacy of biologic treatments for degenerative disc disease.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.1
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• pp.75-80
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• 2021

Purpose: Appendicitis is the most frequent urgency in pediatric age; the aim of this study was to investigate the association of quarantine for severe acute respiratory syndrome coronavirus 2 pandemic and the incidence of pediatric appendicitis in a specific macro area. Methods: We retrospectively analyzed the medical records of consecutive patients who underwent surgical exploration for acute appendicitis in the period March-April since 2014. This specific quarantine period was divided into two phases as indicated by National government. Patient data, demographics, characteristics and outcomes were studied and evaluated comparing patients treated during quarantine especially phase 1 vs. phase 2 (March-April 2020). Results: After reviewing medical charts following the inclusion and exclusion criteria, 155 patients were studied; focusing on the final outcome, it is possible to show a decreased amount of appendicitis during phase 1 and a progressive increase during phase 2; respect to previous years, there was a statistical increase in severity of appendicitis during quarantine (gangrenous vs. phlegmonous appendicitis). Conclusion: During this specific quarantine there was a reduction in appendicitis and a progressive increase during phase 2. These results offer new perspective among disease incidences during lockdown.