• 생물치료정신의학
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• 제24권3호
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• pp.202-208
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• 2018

Objectives : The purpose of this study was to investigate the differences in forensic demographic characteristics, interpersonal problems and personality disorder between early and late onset criminal patients with schizophrenia. Methods : The participants included 187 inpatients with schizophrenia who had committed crimes. They filled out the Korean Inventory of Interpersonal Problem Personality Disorder Scales and Psychopathic Personality Inventory-Revised. They were divided into early onset group and late onset group according to onset age of schizophrenia at 26 years old(under 26 versus 26 and older) and forensic demographic characteristics, interpersonal problem and personality disorders including psychopathy were compared between two groups. Results : There were no differences in gender, education years and family history between the two groups. Early onset group was associated with lower age, earlier onset of age and earlier age at the time of the crime. Duration from onset to diagnosis was not different between the two groups. Duration from onset to crime and after diagnosis to crime was shorter in late onset group. There were no differences between the two groups in the interpersonal problems, personality disorder and psychopathic personality evaluation. Conclusion : These results suggested that there may be forensic demographic differences related to crime between early and later onset schizophrenia. Psychiatrists should consider the age at onset of schizophrenia when assessing the risk of violence in patients with schizophrenia. In the future. it will be needed other study of age classification such as admixture analysis.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

• 말소리와 음성과학
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• 제9권4호
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• pp.115-122
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• 2017

This study attempts to determine the extent to which late talkers are at the risk of delayed phonological development, in order to identify groups at risk and to find factors affecting delayed phonological development. A group of 1,452 children (51% boys, 49% girls) were recruited from the nationwide Panel Study on Korean Children. The current study collected data from 418 children who were previously identified as late-talkers (LT) at their age of three on average (Time 1: expressive vocabulary test) and three years later (Time 2: phonological test). Their phonological outcomes of the Time 2 were analyzed and then compared to those of a group of 1,056 children with typical language development (NLT: no late-talkers) at the age of three in terms of the number of incorrect consonants, and the speech sound disorders rating scores. LT showed a lower articulation score than NLT, and boys showed a lower score than girls. These findings indicate that the late onset of speech and the gender of young children could be potential risk factors of speech sound disorders.

• 대한불안의학회지
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• 제7권1호
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• pp.34-39
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• 2011

Objectives : An early age at onset of obsessive compulsive symptoms in family studies has been strongly associated with a more familial form of obsessive compulsive disorder (OCD). Further, many reports have suggested that early- and late- onset OCD represent separate subtypes of the disorder. The aim of this study was to investigate the associations between the glutamate receptor, the ionotropic, n-methyl-d-aspartate (NMDA) subunit 2B gene (GRIN2B) polymorphisms, and onset of OCD in the Korean population. Methods : We recruited 109 OCD patients and classified them into early- (age of onset <18 years) and late-onset groups (age of onset${\geq}$18). Genomic DNA was extracted from their blood after which the genotypes and allelic frequencies of the two GRIN2B polymorphisms (5072T/G and 5988T/C) were compared in the two groups. We also compared genetic data between child- (age of onset${\leq}$15) and adult-onset groups (age of onset${\geq}$19) using the same protocol. Results : There were no significant differences between the early- and late-onset groups with respect to genotype. Moreover, we could not find any differences in genotype frequencies between child and adult-onset groups. Conclusions : Our study suggested that GRIN2B polymorphisms (5072T/G and 5988T/C) do not affect the onset of OCD in Koreans. However, this finding has resulted from a preliminary study and thus, further study is required.

• 대한불안의학회지
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• 제10권2호
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• pp.108-114
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• 2014

Objective : The correlation between age of onset and symptoms/severity of panic disorder has not yet been determined. The aim of this research is to determine the different clinical features of panic disorder according to the age of onset. Methods : Patients diagnosed with panic disorder were placed into two groups according to onset of age. The subjects were checked for 13 different panic symptoms presented in the DSM-IV. The investigation was also executed by severity, the anxiety sensitivity index, the scale for depression and anxiety. Results : The early onset group had significantly higher frequencies than the late onset group in the areas of "choking feeling" and "derealization or paresthesia". It was found that only "choking feeling" was statically significant as a risk factor of early onset panic disorder. Among the objective anxiety scale, the subscale of psychological anxiety was higher in the early onset group compared to the late onset group. Conclusion : "Choking feeling" was the only panic symptom that showed a significant difference in accordance with onset age. Earlier onset patients tend to experience a more frequent "choking feeling," which is related to respiratory symptoms. This could mean that earlier onset patients are more likely to have higher psychological anxiety.

• Clinical and Experimental Pediatrics
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• 제49권12호
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• pp.1257-1262
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• 2006

The age of puberty represents a very critical time in the life history of every young woman. The menarche stands as primary indicator of the onset of sexual maturation in females. By late adolescence, 75% of girls experience some problem associated with menstruation. Delayed, irregular, painful, and heavy menstrual bleeding are leading reasons for physician office visits by adolescents, and dysmenorrhea is the leading reason for school absenteeism among girls. This article discusses normal menstrual function during adolescence, then reviews the clinical presentation, evaluation, and management of adolescent dysmenorrhea, dysfunctional uterine bleeding, amenorrhea, and polycystic ovary syndrome.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.32-37
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• 2003

저자들은 반복적이며 간헐적인 기면, 정신착란과 운동실조를 주소로 내원한 6세 여아에서, 고암모니아혈증과 혈장 glutamine, 요 orotic acid의 증가를 보여 지발형 OTC 결핍증으로 진단하고, 분자유전학적 검사상 exon 6에서 221번째 아미노산 lysine에 해당하는 염기 AAG가 AAT(asparagine)로 치환된 돌연변이를 이형접합자(heterozygote)로 보인하였던 1례를 경험하였기에 보고하는 바이다.

• 생물정신의학
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• 제16권1호
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• pp.37-45
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• 2009

Objectives : It is reported that panic disorder is frequently comorbid with other psychiatric illnesses. The aim of this study was to investigate differences of psychiatric comorbidity according to age of onset of panic disorder. Methods : Three hundred-two patients participated in the study. All the patients were evaluated by clinical instruments for the assessment the presence of other comorbid psychiatric disorders and various clinical features; Korean version of Mini International Neuropsychiatric Interview, Self-report questionnaires(Beck Anxiety Inventory, Beck Depression Inventory, Anxiety Sensitivity Index and State-Trait Anxiety Inventory) and clinical rating scale (Hamilton Anxiety Scale, Hamilton Depression Scale and Global Assessment of Functional score). Chi-square test was used to determine the difference between early onset and late onset panic disorder. Results : Forty percent of panic patients were found to have at least one comorbid psychiatric diagnosis. There were no differences among the groups divided by number of comorbidity in sex, agoraphobia comorbidity, duration of panic disorder, except onset age of panic disorder. Early onset group had more comorbidy with social phobia, agoraphobia, PTSD. We also found that Early onset panic disorder patients were more likely to experience derealization, nausea, parethesia than late onset panic disorder patients. Conclusion : The results of our study are in keeping with previous data from other parts of the world. Our finding suggest that earier onset of panic disorder related to more psychiatric comorbidity.

• Clinical and Experimental Pediatrics
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• 제54권1호
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• pp.22-28
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• 2011

Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD), and the relationship between certain types of electroencephalography (EEG) abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS). Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259), age of epilepsy diagnosis (P=0.237), associated family history (P=0.074), and positive abnormal magnetic resonance image (MRI) findings (P=0.084). The severe EEG group tended to have more neuropsychological problems (P=0.074). The severe group statistically showed more electrographic seizures in EEG (P=0.000). Rett syndrome was correlated with more severe EEG abnormalities (P=0.002). Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent's questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.1-8
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• 2022

Long-chain fatty acid oxidation disorders (LC-FAOD) are an autosomal recessive inherited rare disease group that result in an acute metabolic crisis and chronic energy deficiency owing to the deficiency in an enzyme that converts long-chain fatty acids into energy. LC-FAOD includes carnitine palmitoyltransferase type 1 (CPT1), carnitine-acylcarnitine translocase (CACT), carnitine palmitoyltransferase type 2 (CPT2), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and trifunctional protein (TFP) deficiencies. Common symptoms of LC-FAOD are hypoketotic hypoglycemia, cardiomyopathy, and myopathy. Depending on symptom onset, the disease can be divided as neonatal period, late infancy and early childhood, adolescence, or adult onset, but symptoms can appear at any time. The neonatal screening test (NBS) can be used to identify the characteristic plasma acylcarnitine profiles for each disease and confirmed by deficient enzyme analysis or molecular testing. Before introduction of NBS, the mortality rate of LC-FAOD was very high. With NBS implementation as routine neonatal care, the mortality rate was dramatically decreased, but severe symptoms such as rhabdomyolysis recur frequently and affect the quality of life. Triheptanoin (Dojolvi^®), the first drug for pediatric and adult patients with molecularly confirmed LC-FAOD, has recently been approved by the US Food and Drug Administration in 2020. In this review, the diagnosis of LC-FAOD and treatment including triheptanoin are summarized.