• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.22 no.4
• /
• pp.392-399
• /
• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Journal of Physiology & Pathology in Korean Medicine
• /
• v.18 no.3
• /
• pp.680-687
• /
• 2004

A study on the correlation between four GCM types and Dam and Bangkwang types of Hyungsang medicine comes to the following conclusions : GCM I type is closely related to Bangkwang type in Hyungsang medicine. GCM II type corresponds to Dam type. In terms of obesity and emaciation, GCM I type is related to obesity and GCM II type to emaciation. In terms of Right and Left, GCM I type is more active in Left, GCM II type in Right. In terms of movement, GCM I and II types are kinetic and GCM III and IV types are static. In terms of Front and Back, the disease of GCM I type usually appears on Back but the treatment starts on Front. In GCM II type, disease mainly occurs on Front but the treatment starts on Back. GCM I type is susceptible to an alimentary disease and constitutionally predisposed to damp-phlegm in Hyungsang medicine. GCM II type is easily affected by a circulatory illness and very vulnerable to heat with blood deficiency and depression and stagnation of Ki.

• Journal of Interdisciplinary Genomics
• /
• v.1 no.2
• /
• pp.15-18
• /
• 2019

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in ${\beta}$-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.

• The Journal of Korean Society of Virology
• /
• v.29 no.2
• /
• pp.65-74
• /
• 1999

Reovirus was found to inhabit both the respiratory and the enteric tract of human and animals. The genome of reovirus comprises 10 segments of double-stranded RNA, total size 24 kbp. Nine strains of reovirus were isolated from human and field mice in Korea. Aseptically collected sera from human and lung tissues from field mice were used for virus isolation. For serotype determination, hemagglutination inhibition test was used, and three strains were confirmed to type 2 and six strains to type 3. To determine the genomic diversity and molecular phylogeny of reoviruses isolated in Korea, part of S4 genomic segment of reovirus was enzymatically amplified and directly sequenced. In nucleotide level, Apo98-35 strain showed 15.4%, 19.3%, and 14.4% differences compared to type 1 (T1L, Lang), type 2 (T2J), and type 3 reference strains, respectively. In amino acid level, Apo98-35 strain showed 10.5%, 13.7%, and 9.5% differences compared to type 1, type 2, and type 3 reference strains, respectively. Using the maximum parsimony method based on 285 bp spaning region of the S4 genomic segment, phylogenetic analysis indicated that Apo98-35 from Korea formed different phylogenetic branch. Our data obtained by sequence and phylogenetic analyses of reoviruses are consistent with the distinct geographically dependent evolution of reoviruses in Korea.

• Clinical and Experimental Pediatrics
• /
• v.48 no.1
• /
• pp.93-96
• /
• 2005

Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree from the proximal aorta to the small arteries but these changes are most common in the renal arteries, aorta, celiac arteries and mesenteric arteries. Of the many complications observed in neurofibromatosis type I, cerebrovascular lesions may be the least appreciated. About 40 cases of neurofibromatosis type I associated with occlusive cerebrovascular disorders have been reported in the literature, but MRI and angiographic findings typical of moyamoya disease are rarely described. We experienced a case of moyamoya disease associated with neurofibromatosis type I in a 3-year-old girl who of complained gait disturbance and paraparesis and showed findings typical of moyamoya disease on MRI and carotid angiogram.

• Korean Journal of Adult Nursing
• /
• v.28 no.1
• /
• pp.61-70
• /
• 2016

Purpose: This study aimed to identify the mediating effect of the resilience on the relationship between type D personality and compliance of Coronary Artery Disease (CAD) patients. Methods: The subjects were 236 CAD patients who visited the cardiology outpatient clinics of D University Medical Center in B City in Korea. The type D personality, resilience, and compliance of subjects were measured using structured questionnaires from July to August, 2014. The mediating effect was analyzed by a multiple hierarchical regression. Results: The subjects with type D personality accounted for 30.9% of all study subjects. The resilience and compliance of type D subjects were significantly lower than those of non type D subjects. There was a significant correlation between resilience and compliance. The direct effect of type D personality on compliance was not significant (${\beta}=-.07$, p=.243), while the indirect effect of type D personality on compliance via resilience was significant (${\beta}=.23$, p<.001). Conclusion: On the basis of above results, it can be concluded that the resilience had completely mediating effect on the relation between type D personality and compliance of CAD patients. Further studies need to be done to develop the intervention enhancing resilience of CAD patients with Type D personality.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.2
• /
• pp.108-112
• /
• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.

• The Journal of Korean Medicine
• /
• v.19 no.2
• /
• pp.177-193
• /
• 1998

It was the study on moxibustion-theraphy of Febrile-Disease to use clinical basic material date by the classic Literature, As a result The results were summerised as follows: 1. Principle of moxibustion-theraphy on fever of excess type is 'conducting heat with heat, (heat) had heat go out'. 2. Principle of moxibustion-theraphy on fever of defficiency type is 'Yin grows while yang is generating'. 3. The study on moxibustion-theraphy of Febrile - Disease is enable to use general term for manic-depressive psychosis, heat syndrome of febrile disease, heat (syndrome) of zang and fu(five solid organs and six hollow organs), jaundice, diabetes, hectic fever(due to yin-deficiency) etc. of medcine-disease. 4. The study on moxibustion-theraphy of Febrile-Disease is enable to using carbuncle, cellulitis, phlegmon, urticaria, disease due to noxious agents produced by various parasites, bite by dog, bite by snake etc. of surgical-disease. 5. The study on moxibustion-theraphy of Febrile-Disease is enable to using seven orfices of conjunctival congestion, blepharitis etc, of E.E.N.T-disease. 6. The study on moxibustion-theraphy of Febrile-Disease is enable to using epilepsy, infantile convulsion etc. of infantile-disease.

• Clinical and Experimental Pediatrics
• /
• v.49 no.7
• /
• pp.710-717
• /
• 2006

Type 2 diabetes mellitus in children and adolescents has been increasing for last 10 years. The increase in frequency of type 2 diabetes appears to parallel the increase in prevalence and severity of obesity in children and adolescents. The metabolic syndrome, cluster of potent risk factors for atherosclerotic cardiovascular disease and type 2 diabetes, consists of insulin resistance, obesity, hypertension and hyperlipidemia. The atherosclerotic cardiovascular disease are rarely seen in the young, but the pathologic processes and risk factors are associated its development have been shown to begin during childhood. In pediatrician it is important to recognize early and treat aggressively for prevention of future cardiovascular disease in children and adolescents with metabolic syndrome.

• Journal of Korean Academy of Nursing
• /
• v.34 no.1
• /
• pp.5-14
• /
• 2004

Purpose: The purpose of this study was to explore adjustment pattern of illness process of people with hemophilia in Korea. Method: 23 people with hemophilia had participated for this study. The data were collected through in-depth interviews and analyzed using Strauss & Corbin's grounded theory method. Results: 'would be free from' was emerged as a core category and it reflects that all participants wanted to be free from the constraints of the disease. The adjustment process was categorized into two stage, the ‘unstable stage’ and the ‘stable stage’. In the process of 'would be free from' four different patterns were identified: hopelessness type; appreciation type; challenge type; and transcendence type. These types were identified based on the degree of pursuing normal life and managing the disease, and social support. The most frequently occurring type was hopelessness type but the participants of this type suffered the most. The transcendence type was the most ideal type, but it occurred the least. Conclusion: The results of this study indicate that people with hemophilia in Korea still suffer from the disease and they need supports. The results would be useful for health care professionals in establishing education and counseling program for the people with hemophilia.