• 대한소아신경학회지
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• 제26권4호
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• pp.197-204
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• 2018

목적: 미토콘드리아 질환은 산화적 인산화의 결함으로 인한 세포에너지의 부족으로 발생하는 이질적인 질환이다. 이 질환은 소아에서 대사질환의 중요한 원인이며 임상증상으로는 경련이 대표적이다. 웨스트 증후군은 영아기에 특징적으로 보이는 뇌전증 증후군이다. 우리는 미토콘드리아 질환에서 웨스트 증후군 환자의 임상 양상을 비교분석하였다. 방법: 본 연구는 2006년부터 2016년까지의 의무기록을 통해 후향적 연구를 진행하였다. 미토콘드리아 질환으로 진단 된 환자 중 웨스트 증후군으로 확인 된 54명의 소아를 대상으로 하였다. 환자군을 경련 발생 연령 6개월을 기준으로 조기 발병 그룹과 후기 발병 그룹으로 나누었고 이들의 임상 양상을 비교분석하였다. 결과: 첫 임상증상으로 경련을 보이는 경우가 조기 발병 그룹에서 90.9%, 후기 발병 그룹에서는 65% 였으며(P=0.046), 발달 지연은 조기 발병 그룹에서는 9.1%, 후기 발병 그룹에서는 35% 였다(P=0.023). 또한 조기 발병 그룹에서 젖산 혈증은 45%, 초기 MRI 이상 소견은 67.6%, 마지막 MRI 이상 소견은 94.1%에서 나타났고 후기 발병 그룹에서 젖산 혈증은 75%, 초기 MRI 이상 소견은 40%, 마지막 MRI 이상 소견은 90%에서 나타났다. 케톤생성 식이요법은 미토콘드리아 질환을 가진 웨스트 증후군 환자 31명에서 시행하였고 22명의 환자에서 경련 횟수가 50% 이상 감소하는 효과가 있었다. 결론: 미토콘드리아 질환에서 웨스트 증후군 환자들을 경련 발생연령을 기준으로 비교분석 했을 때 경련 관련 요인에 대해서는 큰 차이를 보이지 않았다. 하지만 미토콘드리아 질환 관련 요인과 MRI에 대해서는 일부 의미 있는 차이가 있었다. 또한 케톤생성 식이요법은 미토콘드리아 질환을 가진 웨스트 증후군 환자에서도 효과가 있었다.

• Asian Spine Journal
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• 제12권6호
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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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• 제18권2호
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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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• 제18권1호
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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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• 제15권11호
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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.

• 생물정신의학
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• 제19권1호
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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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• 제40권2호
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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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• 제16권2호
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• pp.163-171
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• 2009

목 적 : 15년간 VLBWI에서 생후 3일내 발생한 조기 패혈증의 발생률과 원인균 및 위험인자를 분석하고 사망률에 대해 알아보고자 하였다. 방 법 : 1994년 11월부터 2008년 12월까지 삼성서울병원 신생아집중치료실에 입원한 출생체중 1,500 g 미만의 VLBWI 1,124명을 대상으로 의무기록을 후향적으로 분석하여 조기 패혈증의 발생률, 원인균, 위험인자 및 사망률에 대해 조사하였다. 결 과 : VLBWI의 3일내 조기 패혈증의 발생률은 1.5% (17명)였다. 조기 패혈증 원인균은 그람 양성균이 64.7% (11종), 그람 음성균 35.2% (6종)보다 높게 나타났고 Staphylococcus aureus (23.5%, 4명), Escherichia coli (23.5%, 4명), Enterococcus (17.6%, 3명) 순으로 많았다. 조기 패혈증과 관련된 위험인자는 질식 분만 (adjusted OR, 3.7; 95% CI, 1.3-10.3; P=0.01)이었고 전체 사망률은 조기 패혈증 군이 대조군에 비해 3.0배 높았고(adjusted hazard ratio, 3.0; 95% CI, 1.4-6.5; adjusted P=0.0039) 특히 3일 내 사망률은 조기 패혈증 군이 대조군에 비해 6.5배 높았다(adjusted hazard ratio, 6.5; 95% CI, 2.2 18.9; adjusted P=0.0005). 결 론 : VLBWI의 조기 패혈증은 흔하지 않지만 사망률이 매우 높다. 조기 패혈증의 원인균 및 위험인자를 밝혀 적절한 항생제 사용 및 주산기 관리로 조기 패혈증 사망률을 낮출 수 있도록 노력해야 할 것이다.

• Journal of Korean Neurosurgical Society
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• 제52권3호
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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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• 제21권4호
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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.