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Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes

  • Hwang, Su-Kyeong;Kwon, Soonhak
    • Clinical and Experimental Pediatrics
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    • v.58 no.11
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    • pp.407-414
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    • 2015
  • Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging. If primary biochemical investigations exclude precipitating conditions, a trial with the administration of a vitaminic compound (pyridoxine, pyridoxal-5-phosphate, or folinic acid) can then be initiated regardless of presumptive seizure causes. Patients with unclear etiologies should be considered for a further workup, which should include an evaluation for inherited metabolic defects and genetic analyses. Targeted next-generation sequencing panels showed a high diagnostic yield in patients with epileptic encephalopathy. Mutations associated with the emergence of epileptic encephalopathies can be identified in a targeted fashion by sequencing the most likely candidate genes. Next-generation sequencing technologies offer hope to a large number of patients with cryptogenic encephalopathies and will eventually lead to new therapeutic strategies and more favorable long-term outcomes.

Regional Cerebral Perfusion Abnormalities Assessed with Brain SPECT in Early-onset Schizophrenia : Statistical Parametric Mapping Analysis (조기발병 정신분열병 환아에서 SPECT로 측정한 국소 뇌혈류량 이상 : SPM(Statistical Parametric Mapping) 분석)

  • Cho, Soo-Churl;Hwang, Jun-Won;Kim, Boong-Nyun;Kim, Jae-Won;Shin, Min-Sup;Lee, Dong-Soo;Lee, Ho-Young;Kim, Yang-Yeol;Kim, Hyo-Won
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.18 no.1
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    • pp.31-37
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    • 2007
  • Objectives : A voxel based investigation of cerebral blood flow was conducted to identify functional differences during resting state between children with early-onset schizophrenia and normal controls. Methods : 19 children and adolescents with early-onset schizophrenia(8 boys and 11 girls, mean age $14.0{\pm}1.7$ years old) and 17 comparison children(13 boys and 4 girls, mean age $11.0{\pm}1.9$ years old) were examined by HMPAO-SPECT. The SPECT images were compared using statistical parametric mapping analyses, controlling for age and sex. Results : Increased cerebral blood flow in left medial and inferior frontal gyrus, right superior and middle frontal gyrus, both inferior temporal gyrus, and right cerebellar tonsil was found in children and adolescents with early-onset schizophrenia compared to control subjects. In addition, decreased cerebral blood flow in right thalamus, left posterior cingulate gyrus, right anterior cingulate gyrus and relatively wide areas from left medical frontal gyrus to superior parietal lobule were found in children and adolescents with early-onset schizophrenia compared to control subjects. Conclusion : The results of the current study provide additional evidences for brain areas involving the onset of schizophrenia in early age.

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BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

  • Cao, Yu-Wen;Fu, Xin-Ge;Wan, Guo-Xing;Yu, Shi-Ying;Cui, Xiao-Bin;Li, Li;Jiang, Jin-Fang;Zheng, Yu-Qin;Zhang, Wen-Jie;Li, Feng
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.11
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    • pp.4513-4518
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    • 2014
  • The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

Application of Detrended Fluctuation Analysis of Electroencephalography during Sleep Onset Period (수면발생과정의 뇌파를 대상으로한 탈경향변동분석의 적용)

  • Park, Doo-Heum;Shin, Chul-Jin
    • Korean Journal of Biological Psychiatry
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    • v.19 no.1
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    • pp.65-69
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    • 2012
  • Objectives : Much is still unknown about the neurophysiological mechanisms or dynamics of the sleep onset process. Detrended fluctuation analysis (DFA) is a new tool for the analysis of electroencephalography (EEG) that may give us additional information about electrophysiological changes. The purpose of this study is to analyze long-range correlations of electroencephalographic signals by DFA and their changes in the sleep onset process. Methods : Thirty channel EEG was recorded in 61 healthy subjects (male:female=34:27, age=$27.2{\pm}3.0$ years). The scaling exponents, alpha, were calculated by DFA and compared between four kinds of 30s sleep-wakefulness states such as wakefulness, transition period, early sleep, and late sleep (stage 1). These four states were selected by the distribution of alpha and theta waves in O1 and O2 electrodes. Results : The scaling exponents, alpha, were significantly different in the four states during sleep onset periods, and also varied with the thirty leads. The interaction between the sleep states and the leads was significant. The means (${\pm}$ standard deviation) of alphas for the states were 0.94 (${\pm}0.12$), 0.98 (${\pm}0.12$), 1.10 (${\pm}0.10$), 1.07 (${\pm}0.07$) in the wakefulness, transitional period, early sleep and late sleep state respectively. The mean alpha of anterior fifteen leads was greater than that of posterior fifteen leads, and the two regions showed the different pattern of changes of the alpha during the sleep onset periods. Conclusions : The characteristic findings in the sleep onset period were the increasing pattern of scaling exponent of DFA, and the pattern was slightly but significantly different between fronto-temporal and parieto-occipital regions. It suggests that the long-range correlations of EEG have a tendency of increasing from wakefulness to early sleep, but anterior and posterior brain regions have different dynamical process. DFA, one of the nonlinear analytical methods for time series, may be a useful tool for the investigation of the sleep onset period.

Impact of an Early Hospital Arrival on Treatment Outcomes in Acute Ischemic Stroke Patients (급성 뇌경색 환자의 증상 발현 후 응급실 도착까지의 시간이 치료 결과에 미치는 영향)

  • Kwon, Young-Dae;Yoon, Sung-Sang;Chang, Hye-Jung
    • Journal of Preventive Medicine and Public Health
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    • v.40 no.2
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    • pp.130-136
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    • 2007
  • Objectives : Recent educational efforts have concentrated on patient's early hospital arrival after symptom onset. The purpose of this study was to evaluate the time interval between symptom onset and hospital arrival and to investigate its relation with clinical outcomes for patients with acute ischemic stroke. Methods : A prospective registry of patients with signs or symptoms of acute ischemic stroke, admitted to the OO Medical Center through emergency room, was established from September 2003 to December 2004. The interval between symptom onset and hospital arrival was recorded for each eligible patient and analyzed together with clinical characteristics, medication type, severity of neurologic deficits, and functional outcomes. Results : Based on the data of 256 patients, the median interval between symptom onset and hospital arrival was 13 hours, and 22% of patients were admitted to the hospital within 3 hours after symptom onset. Patients of not-mild initial severity and functional status showed significant differences between arrival hours of 0-3 and later than 3 in terms of their functional outcomes on discharge. Logistic regression models also showed that arrival within 3 hours was a significant factor influencing functional outcome (OR=5.6; 95% CI=2.1, 15.0), in addition to patient's initial severity, old age, cardioembolism subtype, and referral to another hospital. Conclusions : The time interval between symptom onset and hospital arrival significantly influenced treatment outcome for patients with acute ischemic stroke, even after controlling for other significant clinical characteristics. The findings provided initiatives for early hospital arrival of patients and improvement of emergency medical system.

Feasibility of the Korean version of the Bipolar Depression Rating Scale in Adolescents with Early-Onset Bipolar Disorder

  • Lee, Da-Young;Won, Eun-Kyung;Choi, Jung-Won;Min, Hye Ji;Kim, Jayoun;Ha, Kyooseob;Lee, Yunglyul;Chang, Jae Seung;Kim, Yeni
    • Psychiatry investigation
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    • v.14 no.5
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    • pp.585-594
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    • 2017
  • Objective This study explores the feasibility and psychometric properties of the Korean version of the Bipolar Depression Rating Scale (BDRS) in adolescents with Early-onset bipolar disorders. Methods Fifty-three participants (aged 13-18) with early-onset bipolar disorders (40 depressed and 18 euthymic, 5 patients were assessed at depressed state and reassessed after remission) were recruited. All participants were assessed using the BDRS, the Hamilton Depression Rating Scale (HAM-D), the Montgomery-Asperg Depression Rating Scale (MADRS), the Young Mania Rating Scale (YMRS), and the Modified Overt Aggression scale (MOAS). Results BDRS exhibited good internal validity and significant correlations with the HAM-D and the MADRS. In item to scale correlations, all items on the BDRS were significantly correlated with the BDRS total scores except for 'increased motor drive' and 'increased speech', 'depressed mood' and 'worthlessness' showed the highest mean scores and endorsement rates. BDRS score of the depressed group was significantly higher compared with the euthymic group. Three factors (i.e., psychosomatic, mood, and mixed) were identified in the principal component analysis and hierarchical cluster analysis of the BDRS. Conclusion In this study, we report that the Korean version of BDRS is a feasible and reliable tool for the assessment of depression in adolescents with Early-onset bipolar disorders.

Fecal Microbiota Transplantation to Patients with Refractory Very Early Onset Ulcerative Colitis

  • Yodoshi, Toshifumi;Hurt, Thomas L.
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.21 no.4
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    • pp.355-360
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    • 2018
  • Recently, fecal microbiota transplantation (FMT) has been attracting attention as a possible medical treatment of ulcerative colitis (UC). A randomized controlled trial of FMT for children with UC is currently underway. Therapeutic effects of FMT for adults with UC remain controversial. We report two cases of early-onset UC in children. A patient was diagnosed with UC at age 1-year 9-month and underwent FMT at age 2-year 3-month. He attained clinical remission for three weeks after FMT, but then relapsed at four weeks, ultimately undergoing a total colectomy. Another child was diagnosed with UC at 2-year 10-month and she underwent FMT at age 5 years. She has remained in clinical remission following FMT for 24 months and her UC has been maintained without complications with tacrolimus and azathioprine. We report that FMT for early-onset UC appears to be safe and potentially effective.

Deep Brain Stimulation of the Globus Pallidus in a 7-Year-Old Girl with DYT1 Generalized Dystonia

  • Jin, Seon Tak;Lee, Myung Ki;Ghang, Ju Young;Jeon, Seong Man
    • Journal of Korean Neurosurgical Society
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    • v.52 no.3
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    • pp.261-263
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    • 2012
  • The experience of pediatric deep brain stimulation (DBS) of the globus pallidus internus (GPi) in the treatment of early-onset DYT1 generalized dystonia is still limited. Here, we report the surgical experience of bilateral GPi-DBS under general anesthesia by using microelectrode recording in a 7-year-old girl with early-onset DYT1 generalized dystonia. Excellent improvement of her dystonia without neurological complications was achieved. This case report demonstrates that GPi-DBS is an effective and safe method for the treatment of medically refractory early-onset DYT1 generalized dystonia in children.

Effects of early prepubertal exposure to bisphenol A on the onset of puberty, ovarian weights, and estrous cycle in female mice

  • Nah, Won-Heum;Park, Mi-Jung;Gye, Myung-Chan
    • Clinical and Experimental Reproductive Medicine
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    • v.38 no.2
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    • pp.75-81
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    • 2011
  • Objective: Bisphenol A (BPA) is a chemical used extensively to manufacture plastics and epoxy resin liners for food and beverage cans. BPA, with properties similar to estrogen, has endocrine-disrupting effects. In the present study, we examined the effects of early prepubertal BPA exposure on the onset of puberty and reproductive parameters such as estrous cycle and reproductive organ weights in female mice. Methods: Female mice were injected subcutaneously at postnatal day (PND) 8 with BPA (0.1, 1, 10, 100 mg/kg) in sesame oil or with sesame oil alone. Body weight was measured from PND 10 to 70. Vaginal opening and estrous cycle were monitored from PND 20 to 29. Animals were sacrificed at PND 25, 30, and 70, and the ovary and uterus weights were measured. Results: Early prepubertal exposure to BPA (10 and 100 mg/kg) significantly decreased body weight from PND 18 to 30. BPA treated mice at testing dose levels showed early opening of the vagina compared to the control group. The number of estrous cycle and days of estrus were significantly decreased in high dose (100 mg/kg) BPA treated mice. The ovary weight at PND 25 and 30 was significantly decreased in all BPA treatment groups. Conclusion: Early prepubertal exposure to BPA accelerated the onset of puberty but decreased reproductive parameters in female mice.

Functional Connectivity of the Hippocampus in Early- and vs. Late-Onset Alzheimer's Disease

  • Park, Kee Hyung;Noh, Young;Choi, Eun-Jung;Kim, Hyungsik;Chun, Sohyun;Son, Young-Don
    • Journal of clinical neurology
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    • v.13 no.4
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    • pp.387-393
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    • 2017
  • Background and Purpose Early-onset Alzheimer's disease (EOAD) and late-onset Alzheimer's disease (LOAD) have different clinical and neuroimaging characteristics, but memory decline is usually present in both types. However, there have been few functional studies focused on the hippocampus in Alzheimer's disease. We therefore investigated the functional connectivity between the hippocampus and other brain regions using resting-state fMRI and compared the findings between EOAD and LOAD. Methods We recruited 13 patients with EOAD and 19 patients with LOAD at the early disease stage. Twenty-one young controls and ten old controls were also recruited. Each participant completed a standardized neuropsychological battery of tests and underwent T1-weighted structural MRI. fMRI data were acquired during the resting state using 3-T MRI. The functional connectivity to the hippocampus was calculated based on automated anatomical labeling templates. Results The functional connectivity from the hippocampus to other brain regions differed between patients with EOAD and LOAD. The LOAD patients showed decreased hippocampal connectivity to cortical regions, such as to the middle temporal cortex, orbitofrontal cortex, postcentral cortex, supramarginal cortex, and rolandic operculum. In contrast, EOAD patients showed smaller functional changes of the cortical regions connected to the hippocampus, such as the middle frontal cortex. Conclusions EOAD and LOAD patients exhibited different hippocampal connectivity. The memory decline in EOAD may be due to brain areas other than the hippocampus.