• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.24-28
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• 2020

Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.102-107
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• 2014

This study was conducted to analyze the results of inhalation anesthesia performed at the equine hospital of Korea Racing Authority (KRA) and to find out the influencing factors on mortality during and/or after inhalation anesthesia. Among 585 cases of anesthesia, orthopedic surgery (410) was performed the most frequently, followed by colic surgery (85) and upper airway surgery (45). Twenty out of 585 horses were either euthanized or died during and/or after anesthesia. Among those twenty horses, fourteen horses received colic surgery, three received orthopedic surgery, and three others received upper airway surgery. The major causes of mortality were rupture of intestine in colic surgery and airway obstruction during recovery in upper airway surgery. Myopathy, refracture, laminitis were the causes of mortality in orthopedic surgery. Consequently, the horses that received colic and upper airway surgeries showed significantly high mortality rate rather than horses that received orthopedic surgery (p < 0.01). According to the results, horses that received colic surgery showed the highest mortality rate from euthanasia due to poor and grave prognosis. To reduce the perioperative mortality of horses, it is recommended to perform perioperative intensive care for colic surgery and careful monitoring for upper airway surgery during recovery.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.771-774
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• 2008

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

• Investigative Magnetic Resonance Imaging
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• v.10 no.2
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• pp.63-69
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• 2006

Purpose : Marrow edema and fatty degeneration of the hip joint bones could be initial and late signs in hip joint and its bone diseases respectively, which might be differentiated from age-related marrow conversion pattern. So authors have investigated normal marrow conversion pattern of the femur and acetabulum around the hip joints. Materials and methods : Three coronal MR images of 288 hip joint bones in 144 subjects, aged 2 days to 76 years divided to 8 groups every 10 years, were retrospectively analysed for the location and appearance of the converted yellow marrow. The converted yellow marrow were divided to head, neck, and trochanter in the proximal femur and below and above 50% in acetabulum of the hip. Results : The most common type of marrow conversion is the converted yellow marrow in the entire proximal femur and below 50% of acetabulum of the hip. We observed the start of marrow conversion in just before and after 2 years old and stopped at just before and after 20 years old. Conclusion : The understanding of age-related marrow conversion pattern of the hip joint bones would provide some information for differentiation from pathologic condition of them such as edema, fatty degeneration, metastasis, or leukemia.

• Pediatric Infection and Vaccine
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• v.18 no.1
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• pp.68-79
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• 2011

Purpose : This post-marketing surveillance study (NCT00750360) assessed the safety and reactogenicity of an inactivated, trivalent split-virion influenza vaccine licensed for use in the Korea since 2002. Methods : Eight hundred and eighty three subjects aged 6 months received a single dose of the ${\geq}$ vaccine; an additional dose was administered to those aged <9 years and unprimed with an influenza vaccine. Four hundred and eleven subjects used diary cards to record safety information; this report presents data from these subjects. Incidence of solicited local, general and unsolicited adverse events (4-days and 21-days post-vaccination follow-up periods, respectively) were recorded. Serious adverse events (SAEs) were recorded throughout the study period. Results : Injection site pain (subjects aged <6 years: 12.6% of subjects, ${\geq}$6 years: 34.7%), fever (<6 years: 1.3%) and myalgia (${\geq}$6 years: 13.9%) were the most frequently recorded solicited local and general adverse events. Grade 3 solicited adverse events were reported by ${\leq}$4.0% subjects. No vaccine-related SAEs were recorded (KFDA criteria). Conclusion : Considering the vaccine's well-established immunogenicity and its favourable safety and reactogenicity profile across all age groups and its high coverage rate in Korea, it may be recommended as a candidate to facilitate annual seasonal influenza vaccination for all ages as part of the Korean National Immunization Program.

• Journal of the Korean Society of Radiology
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• v.12 no.3
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• pp.427-433
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• 2018

Because of the expectation of the non-invasive treatment effect, Various studies on the treatment of varicose veins using focused ultrasound are reported. In this study, the bio-tissue phantom and tissue equivalent phantom that can be applied to estimation of ultrasonic varicose veins treatment effect. Each phantom was evaluated for its usefulness by evaluating the acoustic characteristics and the shrinkage rate according to the ultrasonic irradiation. A multi-layer structure phantom with three layers of skin, fat, and muscle was constructed considering the structure of the tissue where the varicose veins occurred. The materials constituting each layer were made to have characteristics similar to human body. In addition, the multi-layered phantoms with blood vessel mimic tube, with bovine blood vessel, and with animal tissue were fabricated. The degree of shrinkage of blood vessel mimic material and vascular tissue according to ultrasonic irradiation was evaluated using B-mode image. As the results of this study, it was thought that the proposed phantom could be used effectively in the evaluation of ultrasonic varicose veins treatment. In addition, it is thought that these phantoms could be applied to the development of varicose vein treatment device using the focused ultrasound and the verification of the therapeutic effect.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.19 no.5
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• pp.346-356
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• 2018

Overweight and abdominal obesity caused by sedentary lifestyle may induce deconditioned and atrophied extensor musculature of the lumbar spine and be a potential risk factor for low back pain (LBP). Therefore, this study was conducted to evaluate the validity of high intensity circuit training (HICT) on weight loss and subsequent alleviation of spine curvature (SC) and visual analog scale (VAS) among middle aged men with abdominal obesity. The training program (1 exercise session for 30 minutes, three times a week for 12 weeks) consisted of 12 different functional exercises based on core strengthening multiple joint circuit training. Portions of the obesity index related to body composition were positively changed, which improved the angles of thoracic kyposis and lumbar lordosis, which appeared to effectively reduce lower back pain. Taken together, HICT specifically designed for LBP effectively decreased obesity related body composition and was superior to other treatments for decreasing aggravation of the spine curvature and LBP caused by abdominal obesity; however, weight loss should be the primary treatment target for LBP patients.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.4
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• pp.253-263
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• 2006

Objective: Identification of the regulatory mechanism for arrest and initiation of primordial follicular growth is crucial for female fertility. Previously, we found 15 expressed sequence tags (ESTs) that were specifically abundant in the day-S-subtracted cDNA library and that the B357 clone was novel. The present study was conducted to obtain the whole sequence of the novel gene including B357 and to characterize its mRNA and protein expression in mouse ovary and testis. Methods: The extended sequence of the 2,965-bp cDNA fragment for the clone B357 was named ${\underline{5}}-{\underline{d}}ay-{\underline{o}}vary-{\underline{s}}pecific\;gene-{\underline{1}}$ (5DOS1) and submitted to GenBank (accession number ${\underline{AY751521}}$). Expression of 5DOS1 was characterized in both female and male gonads at various developmental stages by Northern blotting, real-time RT-PCR, in situ hybridization, Western blotting, and immunohistochemistry. Results: The 5DOS1 transcript was highly expressed in the adult testis, brain, and muscle as compared to the other tissues. In the ovary, the 5DOS1 transcript was detected in all oocytes from primordial to antral follicles, and highly expressed at day 5 after birth and decreased thereafter. In contrast, expression of 5DOS1 showed a gradual increase during testicular development and its expression was limited to various stages of male germ cells except spermatogonia. Conclusions: This is the first report on the expression and characterization of the 5DOS1 gene in the mouse gonads. Further functional analysis of the 5DOS1 protein will be required to predict its role in gametogenesis.

• Journal of Yeungnam Medical Science
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• v.3 no.1
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• pp.221-227
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• 1986

Ventricular septal defect is most common congenital cardiac anomaly in Korea and worldwide. And its clinical spectrum is well known. The anatomic classification had been undertaken by several authors, but recently Dr. Soto and Anderson's classification is widely used instead of Dr. Kirklin's it. From April. 1984 to December 1986, 99 cases of ventricular septal defects had been taken surgical repair under direct vision using conventional cardiopulmonary bypass technique at Yeungnam university hospital. The clinical spectrum was similar to other hospital, and the postoperative mortality was 2%, The most common associated anomaly was patent foramen ovale, and the most common postoperative complication was incomplete or complete right bundle branch block. The rank of defects was as followings: 45 perimembranous inlet type, 21 doubly commited subarterial type, 17, perimembranous trabecular type, and 16 perimembranous outlet type. There was no muscular and mixed type.