• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.29 no.3
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• pp.27-41
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• 2016

Objectives : The purpose of this research is to understand melanin with both Korean and Western medicine.Methods : We investigated the comprehension of melanin in both western and Korean medicine through literature review and studied relationships between melanin and five viscera(五臟), especially liver(肝), spleen(脾), kidney(腎). We Also studied representative pigmentary disorders(melasma, vitiligo) in western and Korean medicine to figure out how to understand pigmentary disorders in oriental medicine.Results : The results are as follows. 1. Melanin is associate with liver, because free coursing(疎泄) function of liver is the origin of transport melanin to keratinocyte from melanocyte. Also, melanogenesis factors like MITF and CREB are closely associated with liver and pigmentary disorders occur frequently after stress conditions or women. 2. Melanin is absorbed and scattered in keratinocytes by the function of spleen. Pigmentary disorders result from failure of spleen and formation of phlegm-retained fluid(痰飮). 3. Kidney essence(腎精) is the origin of melanin formation. In addition, corticosteroid, the major hormone of melanogenesis is secreted by adrenalin and adrenalin belongs to kidney(腎) in Korean medicine. 4. Melasma is created by disorder of melanin transport and absorbtion, so melasma is associated liver (肝) and spleen(脾). Therefore the treatment for melasma may focus on improvement function of liver and spleen. 5. The destruction of melanocyte or abnormal melanogenesis by disorder of the immune system, metabolic and affective disorders can make vitiligo, so vitiligo is associated with liver and kidney which are major part of melanin formation. Therefore the treatment of vitiligo can focus on improvement function of liver(肝) and kidney(腎).Conclusion : We compared Korean and western medicine to understand melanin. We also interpreted the mechanism of melanin and pigmantary disorders in western medicine and considered the relationship with visceral manifestation theory(臟象論) in traditional Korean medicine. Further studies are needed to apply comprehension of melanin to clinical stage.

• Mood & Emotion
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• v.16 no.3
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• pp.134-139
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• 2018

Objectives : Treatment for bipolar disorder is often complicated by various clinical situations. We undertook a survey of expert opinions to facilitate clinical decisions in special situations such as weight gain, metabolic syndrome, hyperprolactinemia, genetic counseling, and treatment adherence. Methods : A written survey that asked treatment strategies related to safety and tolerability, was prepared focused on weight gain, antipsychotic related hyperprolactinemia, lamotrigine related skin rash, treatment non-adherence and genetic counseling. Sixty-one experts of the review committee completed the survey. Results : In the case of weight gain related to medications, experts preferred exercise and education for diet-control. First chosen medications were lamotrigine, aripiprazole and ziprasidone. Recommendations based on expert survey results for treatment of bipolar patients in other special situations are outlined. Conclusion : With limitation of expert opinions, authors hope that results of this study provide valuable information to make clinical decisions about treatment of bipolar disorder in complicated situations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.109-114
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• 2016

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to $2,325{\mu}mol/L$, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than $100{\mu}mol/L$ at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last follow-up at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del ($p.Gly510Alafs^*5$) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient's mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.165-170
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• 2015

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder of urea synthesis in newborns. It is the most common urea cycle disorder and leads to elevated levels of ammonia in the blood. Excessive ammonia can cause various symptoms, including vomiting, lethargy, and coma. Boys have a more serious form of OTC deficiency than girls. If not treated immediately, severe OTC deficiency can lead to neurologic abnormalities, hyperammonemic coma, and death. Because late-onset OTC deficiency, which is more common in girls, presents mild symptoms, it is easy to miss diagnosis and prompt treatment. We describe an 11-month-old girl who presented periodic vomiting, intermittent lethargy, and seizure. She was diagnosed with OTC deficiency by elevated serum ammonia and urine orotic acid levels. Genetic analysis of the OTC gene revealed a missense mutation in exon 5 (c.418G>C). We reported an experience of exact diagnosis and successful treatment of late-onset OTC deficiency in our patient.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.148-154
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• 2016

A urea cycle disorder is a condition caused by a defect of the enzymes in the urea cycle, and deficiency of ornithine transcarbamylase (OTC), which converts carbamoyl phosphate and ornithine into citrulline, is the most common type of the disorder. OTC deficiency induces the accumulation of precursors of urea, ammonia, and glutamine, leading to neurological symptoms including hypotonia, respiratory failure, seizure, lethargy, and coma and sometimes to death. Because OTC deficiency is inherited in an X-linked manner, typical symptoms such as vomiting, poor feeding, and lethargy appear mainly in male neonates. We recently had a case that presented with neonatal onset lethargy, vomiting, and apnea in a 4-day-old boy. He was diagnosed with OTC deficiency by biochemical phenotype, including hyperammonemia and an increased orotic acid level in the urine. Genetic analysis of the OTC gene showed a novel mutation c.780_781insCAGGCAGTGT (p.Ile261Glnfs*35). He was treated for hyperammonemia using continuous venovenous hemofiltration (CVVH) at 118 hours after birth. After 4 days of CVVH, his consciousness and blood ammonia concentration were normalized, and he was discharged at the age of 53 days. At around 12 months of age, bilateral femur fractures and osteomyelitis occurred in this patient. Two months after the fracture, he died of septic shock, insulin-resistant hyperglycemia, and multi-organ failure.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.23-29
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• 2018

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.

• Korean Journal of Clinical Laboratory Science
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• v.47 no.3
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• pp.97-104
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• 2015

Sleep is not only an essential physiological function, but also serves important roles in promoting growth, maturation, and overall health of humans. There is increasing interest regarding the impact of sleep and its disorders on the regulation of inflammatory processes and end-organ morbidities, particularly in the context of metabolic and cardiovascular diseases (CVD) and their complications. Obstructive sleep apnea syndrome (OSAS) is an increasingly common health problem in children. In the last decade, the emergence of increasing obesity rates has further led to remarkable increases in the prevalence of OSAS, along with more prominent neurocognitive, behavioral, cardiovascular and metabolic morbidities. Although the underlying mechanisms leading to OSAS-induced morbidities are likely multifactorial and remain to be fully elucidated, activation of inflammatory pathways by OSAS has emerged as an important pathophysiological component of the end-organ injury associated with this disorder. To this effect, it would appear that OSAS could be viewed as a chronic, low-grade inflammatory disorder. Furthermore, the concurrent presence of obesity and OSAS poses a theoretically increased risk of OSAS-related complications. In this study, we will critically review the current state of research regarding the impact of insufficient and disrupted sleep and OSAS on the immune processes and inflammatory pathways that underlie childhood OSAS as a distinctive systemic inflammatory condition in children, and will explore potential interactions between OSAS and obesity.

• Korean Journal of Community Nutrition
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• v.6 no.1
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• pp.97-107
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• 2001

The clustering of insulin resistance with hypertension, glucose intolerance, hyperinsulinemia, increased triglyceride and decreased HDL cholesterol levels, and central and overall obesity has been called syndrome X, or the insulin resistance syndrome(IRS). To develop a nutrition service for IRS, this study was performed to evaluate the prevalence of each component of the metabolic abnormalities of IRS and analyze the clustering pattern of IRS among subjects living in the Taegu community. Participants in this study were 9234(mean age ; M/F 48/40yrs);63.5% were men, 24.4% were obese, 13.3% had hypertension. 3.7% had hyperglycemia, and 32.4% had hyperlipidemia. The IRS was defined as the coexistence of two or more components among metabolic abnormalities; obesity, hypertension. hyperglucemia and hyperlipidemia. The prevalence of IRS in Taegu was 19.2%(M/F:20.8%/16.4%), the clustering of these fisk variables was higher in advanced age group. Among the subjects of IRS having two of more diseases, 75.6% were obese, the pattern were similar in men and women. The younger, the higher the prevalence of obesity associated clustering patterns. The prevalence of obesity associated patterns among the hyperglycemia associated clustering patterns was 44.5%. The samples of the representative clustering patterns were obesity and hyperlipidemia (8.0%), hypertension and hyperlipidemia(3.2%), hypertension, obesity and hyperlipiemia(3.1%), hypertension and obesity(2.3%), and hyperglycemia and hyperlipidemia(0.8%). The clustering of obesity and hyperlipidemia until 50 year old groups, and the clustering of hypertension and hyperlipidemia in the 60 and 70 age groups were the most prevalent. We concluded that insulin resistance syndrome was a relatively common disorder in the Taegu community, and prevalence and the characteristics of the intervention strategies for IRS are desired, an effective improvement will be achieved.

• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.