• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Asian Spine Journal
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• v.12 no.6
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• pp.1043-1052
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• 2018

Study Design: Level III retrospective cross-sectional study. Purpose: To define and characterize the presentation, symptom duration, and patient/surgical risk factors associated with 'post-decompressive neuropathy (PDN).' Overview of Literature: PDN is characterized by lower extremity radicular pain that is 'different' from pre-surgical radiculopathy or claudication pain. Although it is a common constellation of postoperative symptoms, PDN is incompletely characterized and poorly understood. We hypothesize that PDN is caused by an intraoperative neuropraxic event and may develop early (within 30 days following the procedure) or late (after 30 days following the procedure) within the postoperative period. Methods: Patients who consented to undergo lumbar laminectomy with or without an instrumented fusion for degenerative lumbar spine disease were followed up prospectively from July 2013 to December 2014. Relevant data were extracted from the charts of the eligible patients. Patient demographics and surgical factors were identified. Patients completed postoperative questionnaires 3 weeks, 3 months, 6 months, and 1 year postoperatively. Questions were designed to characterize the postoperative pain that differed from preoperative pain. A diagnosis of PDN was established if the patient exhibited the following characteristics: pain different from preoperative pain, leg pain worse than back pain, a non-dermatomal pain pattern, and nocturnal pain that often disrupted sleep. A Visual Analog Scale was used to monitor the pain, and patients documented the effectiveness of the prescribed pain management modalities. Patients for whom more than one follow-up survey was missed were excluded from analysis. Results: Of the 164 eligible patients, 118 (72.0%) completed at least one follow-up survey at each time interval. Of these eligible patients, 91 (77.1%) described symptoms consistent with PDN. Additionally, 75 patients (82.4%) described early-onset symptoms, whereas 16 reported symptoms consistent with late-onset PDN. Significantly more female patients reported PDN symptoms (87% vs. 69%, p=0.03). Patients with both early and late development of PDN described their leg pain as an intermittent, constant, burning, sharp/stabbing, or dull ache. Early PDN was categorized more commonly as a dull ache than late-onset PDN (60% vs. 31%, p=0.052); however, the difference did not reach statistical significance. Opioids were significantly more effective for patients with early-onset PDN than for those with late-onset PDN (85% vs. 44%, p=0.001). Gabapentin was most commonly prescribed to patients who cited no resolution of symptoms (70% vs. 31%, p=0.003). Time to symptom resolution ranged from within 1 month to 1 year. Patients' symptoms were considered unresolved if symptoms persisted for more than 1 year postoperatively. In total, 81% of the patients with early-onset PDN reported complete symptom resolution 1 year postoperatively compared with 63% of patients with late-onset PDN (p=0.11). Conclusions: PDN is a discrete postoperative pain phenomenon that occurred in 77% of the patients who underwent lumbar laminectomy with or without instrumented fusion. Attention must be paid to the constellation and natural history of symptoms unique to PDN to effectively manage a self-limiting postoperative issue.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.132-136
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• 2021

Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

• 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.

• 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.

• 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.

• 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.

• Neonatal Medicine
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• v.16 no.2
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• pp.163-171
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• 2009

Purpose: This study was conducted to determine the incidence, causative pathogens, risk factors and mortality for early onset sepsis in the first three days in very low birth weight infants. Methods: The medical records of 1,124 very low birth weight infants admitted to the neonatal intensive care unit of Samsung Medical Center between November 1994 and December 2008 were retrospectively reviewed. The incidence, causative pathogens, risk factors, and mortality for early onset sepsis in the first 3 days of life in very low birth weight infants were evaluated. Results: Early onset sepsis, as confirmed by positive blood cultures, was present in 17 of 1,124 infants (1.5%). Sixty-four percent of the isolated pathogens were gram-positive bacteria and 35% of the isolated pathogens were gram-negative bacteria. The dominant pathogens of early onset sepsis included Staphylococcus aureus (23.5%), Esherichia coli (23.5%), and Enterococcus (17.6%). Vaginal delivery (adjusted odds ratio [OR], 3.7; 95% confidence interval [CI], 1.3-10.3; P=0.01) was associated with early onset sepsis. The overall mortality (adjusted hazard ratio, 3.0; 95% CI, 1.4-6.5; adjusted P=0.0039) and mortality within 72 hours of life (adjusted hazard ratio, 6.5; 95% CI, 2.2-18.9; adjusted P=0.0005) of infants with early onset sepsis were higher than that of uninfected infants. Conclusion: Early onset sepsis remains an uncommon, but potentially lethal problem among very low birth weight infants. Knowledge of the likely causative organisms and risk factors for early onset sepsis can aid in instituting prompt and appropriate therapy, in order to minimize mortality.

• 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.

• 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.