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1.
Korean J Ophthalmol ; 34(2): 158-165, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32233150

RESUMO

PURPOSE: We sought to provide a new classification system for Duane retraction syndrome (DRS) according to type and angle of strabismus during primary gaze and to analyze the clinical features of each DRS type. METHODS: The medical records of 65 DRS patients who visited the department of pediatric ophthalmology at Seoul National University Children's Hospital between 2010 and 2017 were retrospectively analyzed. Patients whose angle of exotropia at primary gaze exceeded 3 prism diopters (PDs) were classified as "Exo-Duane," those whose angle of strabismus at primary gaze did not exceed 3 PDs were classified as "Ortho-Duane," and those whose angle of esotropia at primary gaze exceeded 3 PDs were classified as "Eso-Duane." RESULTS: Among 65 DRS patients, Ortho-Duane was the most common (53.8%) type, followed by Eso-Duane (33.8%) and Exo-Duane (12.3%). The mean age at diagnosis was significantly higher in the Exo-Duane group than the Ortho-Duane or Eso-Duane group (p = 0.003 and p < 0.001, respectively). A predominance of left eye involvement was observed in the Ortho-Duane (62.9%) and Eso-Duane (90.9%) groups. The frequencies of upshoot, downshoot, fissure narrowing, and globe retraction were not significantly different among the subgroups. Head-turn was more frequent in Eso-Duane patients than in Exo-Duane or Ortho-Duane patients (p = 0.001 and p < 0.001, respectively). Myopia accounted for the most common refractive error among Exo-Duane patients (71.4%), while hyperopia was found more often in both Ortho-Duane (64.7%) and Eso-Duane (85.0%) patients. The majority of patients showed gross stereoacuity (93.1%), and a large proportion had good stereoacuity (Exo-Duane 60.0%, Ortho-Duane 81.3%, Eso-Duane 87.5%). CONCLUSIONS: Our newly proposed classification of DRS according to type and angle of strabismus at primary gaze was practically useful and showed potential for use as an objective guideline in the clinical setting.

3.
Clin Exp Pediatr ; 2020 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-32024331

RESUMO

Accurate localization of the seizure onset zone is important for better seizure outcome and preventing deficits following epilepsy surgery. Recent advances in neuroimaging techniques have increased the understanding of the underlying etiology and improved the ability to identify the seizure onset zone noninvasively. With epilepsy-specific magnetic resonance imaging (MRI) protocols, structural MRI allows a better detection of the seizure onset zone, particularly when it is interpreted by experienced neuroradiologists. Ultra-high-field imaging and post-processing analysis with automated machine learning algorithms can detect subtle structural abnormalities in MRI-negative patients. Tractography derived from diffusion tensor imaging can delineate white matter connections associated with epilepsy or eloquent function, thus preventing deficits after epilepsy surgery. Arterial spin labeling perfusion MRI, simultaneous electroencephalography-functional MRI (EEG-fMRI), and magnetoencephalography (MEG) are non-invasive imaging modalities that can be used to localize the epileptogenic foci and assist in planning epilepsy surgery with positron emission tomography, ictal single-photon emission computed tomography, and intracranial EEG monitoring. fMRI and MEG can localize and lateralize the area of the cortex essential for language, motor, and memory function and identify its relationship with planned surgical resection sites to reduce the risk of neurological impairment. All these advanced structural and functional imaging modalities can be combined with post-processing methods to better understand the epileptic network and obtain valuable clinical information for predicting long-term outcome in pediatric epilepsy.

4.
Metab Syndr Relat Disord ; 18(1): 47-55, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31770074

RESUMO

Background: Obesity, a chronic low-grade inflammatory state, increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) levels are associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. This study aimed to determine the association of hs-CRP and cardiometabolic risk factors, including obesity, prediabetes, hypertension, and dyslipidemia, in the nationally representative data of Korean youth. Methods: Anthropometric, biochemical, physical activity (PA), and nutritional survey data were collected for 1,723 youths (918 boys, 53.5%), aged 10-18 years, from the Korea National Health and Nutrition Examination Survey (2015-2017). Participants were classified into three groups according to hs-CRP tertile. Abdominal obesity, impaired fasting glucose, elevated triglyceride, decreased high-density lipoprotein (HDL) cholesterol and elevated blood pressure, and prediabetes [glycated hemoglobin (HbA1c) 5.7%-6.4%] were compared according to sex and hs-CRP tertile. Results: The ranges of each hs-CRP tertile were ≤0.3, 0.31-0.5, and >0.5 mg/L, respectively. hs-CRP was positively associated with body mass index (BMI) z-score (P < 0.001) and HbA1c (P = 0.012), and negatively with HDL cholesterol (P = 0.029), after adjusting confounding variables, including age, sex, BMI, white blood cell count, PA, and nutritional factors. The upper tertile of hs-CRP was associated with obesity [adjusted odds ratio (aOR) 12.07, P < 0.001] and prediabetes (aOR 3.08, P = 0.002). Conclusions: Elevated hs-CRP is associated with high BMI z-score and HbA1c, and low HDL cholesterol in Korean children and adolescents. Hence, hs-CRP could be a reliable indicator for adiposity, prediabetes, and abnormal lipid metabolism in the pediatric population.

5.
Sci Rep ; 9(1): 18204, 2019 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-31796811

RESUMO

To evaluate histopathological characteristics of conjunctival pigmented lesions and analyze clinical features related to histologic classification in Asian population, we analyzed medical records, anterior segment photographs, and histological specimen of 85 eyes who had undergone biopsy for pigmented conjunctival lesions at Seoul National University Hospital between 1999 and 2018. Compound nevus was the most common type of conjunctival pigmented lesions (67.1%), followed by conjunctival melanocytic intraepithelial neoplasia (primary acquired melanosis)(11.8%), subepithelial nevus (8.2%), and malignant melanoma (MM)(7.1%). Patients with compound nevus were younger than those with non-compound nevus (22.1 ± 17.0 vs 39.9 ± 18.8 years, p < 0.001), while patients with MM were older than those without melanoma (55.7 ± 18.2 vs 25.8 ± 18.0 years, p = 0.001). The lesion in compound nevus tended to be more frequently located on the temporal conjunctiva than that in the non-compound nevus group (54.4% vs 32.1%, p = 0.053), and feeder vessels were associated with most of compound nevus (98.2% vs 78.6% of non-compound nevus, p = 0.005). The lesion in MM was larger, involved multiple quadrants, and had extrabulbar location than lesions without melanoma (p < 0.001, p < 0.001, and p = 0.002, respectively). Together, the results would help clinicians to distinguish benign conjunctival pigmentations from malignant counterparts in clinical practice without biopsy.

6.
Arch Pharm Res ; 42(12): 1101-1106, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31820397

RESUMO

Zolpidem is extensively metabolized by CYP3A4, CYP2C9 and CYP1A2. Previous studies demonstrated that pharmacokinetics of zolpidem was affected by CYP inhibitors, but not by short-term treatment of clarithromycin. The objective of this study was to investigate the effects of steady-state clarithromycin on the pharmacokinetics of zolpidem in healthy subjects. In the control phase, 33 subjects received a single dose of zolpidem (5 mg). One week later, in the clarithromycin phase, the subjects received clarithromycin (500 mg) twice daily for 5 days to reach steady state concentrations, followed by zolpidem (5 mg) and clarithromycin (500 mg). In each phase, plasma concentrations of zolpidem were evaluated up to 12 h after drug administration by using liquid chromatography-tandem mass spectrometry method. In the clarithromycin phase, mean total area under the curve of zolpidem (AUCinf) was 1.62-fold higher and the time to reach peak plasma concentration of zolpidem (tmax) was prolonged by 1.95-fold compared to the control phase. In addition, elimination half-life (t1/2) of zolpidem was 1.40-fold longer during co-administration with clarithromycin and its apparent oral clearance (CL/F) was 36.2% lower with clarithromycin administration. The experimental data demonstrate the significant pharmacokinetic interaction between zolpidem and clarithromycin at steady-state.

7.
Medicine (Baltimore) ; 98(42): e17629, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626147

RESUMO

The potential relationship between coronary artery calcium (CAC) and colorectal adenoma has been widely indicated. This study aimed to investigate the relationship between the risk of colorectal adenoma and CAC progression in asymptomatic Korean adults who underwent serial assessments by colonoscopy and CAC scan.A total of 754 asymptomatic participants, who had undergone serial CAC scans and colonoscopies for screening, were enrolled. Changes in CAC were assessed according to the absolute change between baseline and follow-up results. CAC progression was defined using Multi-Ethnic Study of Atherosclerosis method. Risk for adenoma at follow-up colonoscopy was determined using hazard ratio (HR) by Cox regression. The area under the receiver operating characteristic (ROC) curve was measured.The mean follow-up duration was 3.4 ± 2.5 years. CAC progression was found in 215 participants (28.5%). Participants with adenoma at index colonoscopy showed a higher rate of CAC progression than those without (38.8% vs 23.6%, P < .01). In participants with adenoma at index colonoscopy, CAC progression significantly increased the cumulative risk for adenoma at follow-up colonoscopy (HR = 1.48, 95% confidence interval [CI] 1.06-2.06, log-rank P = .021). In multivariate analysis, male sex (HR = 2.57, 95% CI 1.22-5.42, P = .013), ≥3 adenomas at index colonoscopy (HR = 2.60, 95% CI 1.16-5.85, P = .021), and CAC progression (HR = 2.74, 95% CI 1.48-5.08, P = .001) increased the risk of adenoma at follow-up colonoscopy. In participants without adenoma at index colonoscopy, neither baseline CAC presence nor CAC progression increased the risk of adenoma at follow-up colonoscopy. The interaction between CAC progression and adenoma at index colonoscopy was significant in multivariable model (P = .005). In the ROC analysis, AUC of CAC progression for adenoma at follow-up colonoscopy was 0.625 (95% CI 0.567-0.684, P < .001) in participants with adenoma at index colonoscopy.Participants with CAC progression, who are at high risk of coronary atherosclerosis, may need to be considered for follow-up evaluation of colorectal adenoma, especially those with adenoma at index colonoscopy.


Assuntos
Adenoma/complicações , Cálcio/metabolismo , Neoplasias Colorretais/complicações , Doença da Artéria Coronariana/etiologia , Vasos Coronários/diagnóstico por imagem , Medição de Risco/métodos , Calcificação Vascular/etiologia , Adenoma/diagnóstico , Doenças Assintomáticas , Colonoscopia , Neoplasias Colorretais/diagnóstico , Angiografia Coronária/métodos , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/epidemiologia , Vasos Coronários/metabolismo , Progressão da Doença , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores , Curva ROC , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Calcificação Vascular/diagnóstico , Calcificação Vascular/epidemiologia
8.
PLoS One ; 14(8): e0220240, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31442229

RESUMO

OBJECTIVE: We evaluated frequency and risk factors of delayed TSH elevation (dTSH) and investigated follow-up outcomes in the dTSH group with venous TSH (v-TSH) levels of 6-20 mU/L according to whether late preterm infants born at gestational age (GA) 35-36 weeks had risk factors. METHODS: The medical records of 810 neonates (414 boys) born at Seoul National University Hospital who had a normal neonatal screening test (NST) and underwent the first repeat venous blood test at 10-21 days post birth were reviewed. RESULTS: Seventy-three (9.0%) neonates showed dTSH, defined as a v-TSH level ≥6.0 mU/L, 12 of whom (1.5%) were started on levothyroxine medication. A multivariate-adjusted model indicated that a low birth weight (LBW <2,000 g), a congenital anomaly, and exposure to iodine contrast media (ICM) were significant predictors for dTSH (all p < 0.05). Among these 73 dTSH infants, all 5 infants with TSH levels ≥20 mU/L began levothyroxine medication, and 6 of 16 infants with v-TSH levels of 10-20 mU/L were indicated for levothyroxine, regardless of coexisting risk factors. However, only 1 of 52 infants with v-TSH levels of 6-10 mU/L who had a congenital anomaly was indicated for levothyroxine. All healthy late preterm infants, including LBW and multiple births, with v-TSH levels of 6-10 mU/L exhibited normal thyroid function. CONCLUSIONS: dTSH was detected in 9.0% and levothyroxine was indicated in 1.5% of infants born at GA 35-36 weeks, particularly those with a LBW, a congenital anomaly, or history of ICM exposure. Either levothyroxine or retesting is indicated for late preterm neonates with TSH levels ≥10 mU/L regardless of risk factors. If healthy preterm neonates show v-TSH levels of 6-10 mU/L, a second repeat test may not be necessary; however, further studies are required to set a threshold for retesting.


Assuntos
Idade Gestacional , Recém-Nascido Prematuro/metabolismo , Tireotropina/metabolismo , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Fatores de Risco , Tiroxina/farmacologia , Fatores de Tempo
9.
Neuropediatrics ; 50(5): 322-326, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31319424

RESUMO

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We described a pediatric case of extremely early onset TTR-FAP with a TTR Leu55Pro mutation. A 17-year-old boy began to suffer from lower limb weakness, gait disturbance, and decreased sensation from 14 years of age onward. He presented with hypertrophic cardiomyopathy, periorbital and scleral ecchymosis, anhidrosis, orthostatic intolerance, and gastrointestinal autonomic dysfunction including nausea, vomiting, and diarrhea alternating with constipation. The patient's older sister had developed similar gastrointestinal symptoms from 20 years of age onward and was diagnosed as having hypertrophic cardiomyopathy. The boy's biopsy results showed infiltrated amyloid deposition on subcutaneous fat tissue and endocardium. Genetic analysis of the TTR gene demonstrated that both the patient and his sister had a pathogenic mutation, c.224T > C (Leu55Pro). Both patients were prescribed tafamidis, a TTR stabilizing agent. Although a majority of TTR-FAPs occur during adulthood, it should be suspected, even in pediatric populations, when symmetric length dependent neuropathy occurs in conjunction with a family history of neuropathy, autonomic neuropathy, and/or cardiomyopathy.

10.
Ann Pediatr Endocrinol Metab ; 24(2): 78-91, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261471

RESUMO

Over the last decades, the onset of puberty in girls has occurred earlier, but the tempo of pubertal progression has been relatively slower, resulting in a younger age at puberty onset without a change in age at menarche. Sufficient energy availability and adiposity contribute to early pubertal development, and environmental factors, such as endocrine-disrupting chemicals (EDCs), may affect not only the control of energy balance, but also puberty and reproduction. EDCs are hormonally active substances that can perturb puberty by acting both peripherally on target organs, such as adipose tissue or adrenal glands, and/or centrally on the hypothalamic-pituitary-gonadal (HPG) axis. Depending on whether the exposure takes place earlier during fetal and neonatal life or later during early childhood, EDCs can lead to different outcomes through different mechanisms. Evidence of associations between exposures to EDCs and altered pubertal timing makes it reasonable to support their relationship. However, human epidemiologic data are limited or inconsistent and cannot provide sufficient evidence for a causal relationship between EDC exposure and changes in pubertal timing. Further investigation is warranted to determine the overall or different effects of EDCs exposure during prenatal or childhood windows on pubertal milestones and to reveal the underlying mechanisms, including epigenetic marks, whereby early-life exposure to EDCs affect the HPG-peripheral tissue axis.

11.
J Clin Pharm Ther ; 44(5): 685-692, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31290163

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Angioedema (AE) caused by angiotensin-converting enzyme inhibitors (ACEIs) requires prompt and appropriate management, but current treatment options are limited to symptomatic treatment. Icatibant is a bradykinin receptor antagonist approved for hereditary AE treatment. Some recent studies showed a potential role for icatibant on ACEI-induced AE while others have shown no promising effect. This meta-analysis of randomized controlled trials (RCTs) was conducted to provide evidence for the use of icatibant in the treatment of ACEI-induced AE. METHODS: Relevant RCTs that examined the effects of icatibant for ACEI-induced AE were retrieved from EMBASE, PubMed and Cochrane Library (Central). Included articles for the meta-analysis were assessed using the Cochrane risk of bias tool. For meta-analysis, the pooled mean differences (MD) with 95% CIs and the pooled relative risk (RR) with 95% CIs were calculated using RevMan 5.3. The systematic review was performed in accordance with the PRISMA statement. RESULTS AND DISCUSSION: A total of 234 records were identified after searching the databases. In total, three RCTs involving 179 patients were included in the meta-analysis. The three RCTs had a low risk of bias and the characteristics of the participants and the outcome measures were similar among the RCTs. Treatment with icatibant shortened the time to achieve complete resolution of ACEI-induced AE symptoms compared to placebo or conventional treatments. However, the difference was not statistically significant (MD: -7.77 hours; 95% CI: -25.18-9.63 hours). There were no differences between groups in terms of drug-related adverse effects, apart from the reactions at the site of injection (RR: 1.35; 95% CI: 0.53-3.45). WHAT IS NEW AND CONCLUSION: This meta-analysis evaluated the effectiveness and tolerability of icatibant therapy for ACEI-induced AE, but the benefit of icatibant therapy over placebo or conventional treatment strategies could not be shown.


Assuntos
Angioedema/induzido quimicamente , Angioedema/tratamento farmacológico , Inibidores da Enzima Conversora de Angiotensina/efeitos adversos , Bradicinina/análogos & derivados , Bradicinina/uso terapêutico , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
12.
Int J Clin Oncol ; 24(12): 1515-1525, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31352632

RESUMO

BACKGROUND: High-dose chemotherapy (HDC) and autologous stem-cell transplantation (auto-SCT) are used to improve the survival of children with high-risk brain tumors who have a poor outcome with the standard treatment. This study aims to evaluate the outcome of HDC/auto-SCT with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin (TTC/MEC) regimens in pediatric brain tumors. METHODS: We retrospectively analyzed the data of 33 children (median age 6 years) who underwent HDC/auto-SCT (18 tandem and 15 single) with uniform conditioning regimens. RESULTS: Eleven patients aged < 3 years at diagnosis were eligible for HDC/auto-SCT to avoid or defer radiotherapy. In addition, nine patients with high-risk medulloblastoma (presence of metastasis and/or postoperative residual tumor ≥ 1.5 cm2), eight with other high-risk brain tumor (six CNS primitive neuroectodermal tumor, one CNS atypical teratoid/rhabdoid tumor, and one pineoblastoma), and five with relapsed brain tumors were enrolled. There were three toxic deaths, and two of which were due to pulmonary complications. The main reason for not performing tandem auto-SCT was due to toxicities and patient refusal. The event-free survival (EFS) and overall survival (OS) rates of all patients were 59.4% and 80.0% at a median follow-up with 49.1 months from the first HDC/auto-SCT, respectively. The EFS/OS rates of patients aged < 3 years at diagnosis, high-risk medulloblastoma, other high-risk brain tumor, and relapsed tumors were 50.0/81.8%, 87.5/85.7%, 66.7/88.9%, and 20.0/60.0%, respectively. CONCLUSIONS: Although tandem HDC/auto-SCT with TTC/MEC regimens showed promising survival rates, treatment modifications are warranted to reduce toxicities. The survival rates with relapsed brain tumors were unsatisfactory despite HDC/auto-SCT, and further study is needed.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/terapia , Transplante de Células-Tronco/métodos , Adolescente , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Carboplatina/administração & dosagem , Criança , Pré-Escolar , Etoposídeo/administração & dosagem , Feminino , Humanos , Lactente , Masculino , Melfalan/administração & dosagem , Estudos Retrospectivos , Transplante de Células-Tronco/efeitos adversos , Transplante de Células-Tronco/mortalidade , Taxa de Sobrevida , Tiotepa/administração & dosagem , Topotecan/administração & dosagem , Transplante Autólogo/efeitos adversos , Transplante Autólogo/mortalidade , Resultado do Tratamento
13.
Brain Dev ; 41(9): 820-825, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31208818

RESUMO

BACKGROUND: Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders (EBV-T/NK-LPD) is a group of rare disorders resulting from EBV-infected T/NK-cells. It manifests as a broad spectrum of clinical symptoms according to immunologic status and viral load of an infected patient. Here, we report a boy who developed central nervous system (CNS) vasculitis and myelopathy as possible neurologic manifestations of EBV-T/NK-LPD. CASE REPORT: A 16-year-old boy came to our hospital with a necrotic skin lesion on his right shoulder. He suffered from local skin reactions with high fevers after mosquito bites since he was 10 years old. During the evaluation of his skin lesion, he suddenly developed left facial palsy. Brain magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed acute infarctions of the pons and middle cerebellar peduncle and irregularities of both anterior inferior cerebellar arteries. Serologic testing showed an elevation of total Ig E levels, anti-VCA IgG levels, and anti-EA IgG titers. EBV DNA copy numbers of the whole blood and cerebrospinal fluid (CSF) were elevated. Biopsy of the right shoulder skin showed extranodal NK/T-cell lymphoma. According to clinical features and laboratory findings, he was diagnosed with EBV-T/NK-LPD. He was treated with chemotherapy and hematopoietic stem cell transplantation but developed recurrent infarctions during treatment. CONCLUSION: This case showed the diagnostic challenge of neurologic manifestations of EBV-T/NK-LPD. EBV-T/NK-LPD-associated CNS vasculitis needs to be considered as a differential diagnosis of CNS vasculitis, when it is accompanied by the typical clinical spectrum of EBV-T/NK-LPD such as severe mosquito bite allergy, extranodal NK/T-cell lymphoma.


Assuntos
Infecções por Vírus Epstein-Barr/complicações , Transtornos Linfoproliferativos/etiologia , Vasculite do Sistema Nervoso Central/etiologia , Adolescente , Diagnóstico Diferencial , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/terapia , Humanos , Células Matadoras Naturais/virologia , Transtornos Linfoproliferativos/diagnóstico , Transtornos Linfoproliferativos/terapia , Masculino , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/terapia , Vasculite do Sistema Nervoso Central/diagnóstico , Vasculite do Sistema Nervoso Central/terapia
14.
J Korean Med Sci ; 34(19): e143, 2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31099193

RESUMO

BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis. METHODS: Twelve children with ANE were included in the study. The diagnosis was made by clinical and radiological characteristics from January 1999 to December 2017 and their clinical data were retrospectively analyzed. RESULTS: A total of 12 children aged 6 to 93 months at onset (5 male: 7 female) were evaluated. The etiology was found in 4 of them (influenza A, H1N1; coxsackie A 16; herpes simplex virus; and RANBP2 gene/mycoplasma). The most common initial presentations were seizures (67%) and altered mental status (58%). The majority of the subjects showed elevation of aspartate aminotransferase/alanine aminotransferase with normal ammonia and increased cerebrospinal fluid protein without pleocytosis. Magnetic resonance imaging revealed increased T2 signal density in bilateral thalami in all patients, but the majority of the subjects (67%) also had lesions in other areas including tegmentum and white matter. Despite the aggressive immunomodulatory treatments, the long-term outcome was variable. One child and two sisters with genetic predisposition passed away. CONCLUSION: ANE is a distinctive type of acute encephalopathy with diverse clinical spectrum. Even though the diagnostic criteria are available, they might not be watertight. In addition, treatment options are still limited. Further studies for better outcome are needed.


Assuntos
Doença de Leigh/diagnóstico , Doença Aguda , Alanina Transaminase/metabolismo , Aspartato Aminotransferases/metabolismo , Criança , Pré-Escolar , Infecções por Coxsackievirus/complicações , Infecções por Coxsackievirus/diagnóstico , Feminino , Humanos , Lactente , Influenza Humana/complicações , Influenza Humana/diagnóstico , Doença de Leigh/etiologia , Imagem por Ressonância Magnética , Masculino , Chaperonas Moleculares/genética , Infecções por Mycoplasma/complicações , Infecções por Mycoplasma/diagnóstico , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Estudos Retrospectivos
15.
Clin Endocrinol (Oxf) ; 91(1): 156-162, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31001842

RESUMO

OBJECTIVE: Patients with Turner syndrome (TS) are at high risk for cardiovascular morbidity and mortality due to aortic dilation. We evaluated the prevalence of hypertension and its risk factors and investigated the relationship between systolic hypertension and aortic diameter in young patients with TS. DESIGN: Observational, cross-sectional study. PATIENTS AND MEASUREMENTS: Forty-two patients with TS (15-35 years) who had achieved final adult heights underwent 24-h ambulatory blood pressure monitoring (ABPM). Fasting glucose, insulin and lipid profiles were measured. The homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. Echocardiography was performed to evaluate aortic diameters (aortic annulus, aortic root at the sinuses of Valsalva, sinotubular junction and ascending aorta), which were converted into Turner-specific z-scores. RESULTS: Systolic and/or diastolic hypertension was identified in 71.4% (n = 30) of patients, as assessed by 24-hour ABPM. Twenty-eight patients (66.7%) were nondippers. Patients with systolic hypertension (n = 8, 19.0%) had a higher weight, waist circumference and HOMA-IR levels than those without hypertension (P < 0.05 for all). After adjusting for covariates, HOMA-IR was independently associated with systolic hypertension (odds ratio 10.1, P = 0.043). After adjusting for age and bicuspid aortic valve, systolic hypertension was independently related to increased aortic diameter at the aortic annulus (ß = 1.064, P = 0.009) and sinotubular junction (ß = 1.124, P = 0.016). CONCLUSIONS: Hypertension is highly prevalent and independently associated with IR in young patients with TS. The significant relationship between systolic hypertension and aortic diameters underscores the importance of BP and IR control.

16.
Cells ; 8(4)2019 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-30935019

RESUMO

Autophagy is a cellular process that disrupts and uses unnecessary or malfunctioning components for cellular homeostasis. Evidence has shown a role for autophagy in tumor cell survival, but the molecular determinants that define sensitivity against autophagic regulation in cancers are not clear. Importantly, we found that breast cancer cells with low expression levels of a zinc-finger protein, ZNF143 (MCF7 sh-ZNF143), showed better survival than control cells (MCF7 sh-Control) under starvation, which was compromised with chloroquine, an autophagy inhibitor. In addition, there were more autophagic vesicles in MCF7 sh-ZNF143 cells than in MCF7 sh-Control cells, and proteins related with the autophagic process, such as Beclin1, p62, and ATGs, were altered in cells with less ZNF143. ZNF143 knockdown affected the stability of p53, which showed a dependence on MG132, a proteasome inhibitor. Data from proteome profiling in breast cancer cells with less ZNF143 suggest a role of NAD(P)H quinone dehydrogenase 1(NQO1) for p53 stability. Taken together, we showed that a subset of breast cancer cells with low expression of ZNF143 might exhibit better survival via an autophagic process by regulating the p53⁻Beclin1 axis, corroborating the necessity of blocking autophagy for the best therapy.


Assuntos
Proteína Beclina-1/metabolismo , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , NAD(P)H Desidrogenase (Quinona)/metabolismo , Transdução de Sinais , Estresse Fisiológico , Transativadores/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Apoptose , Autofagia , Neoplasias da Mama/ultraestrutura , Linhagem Celular Tumoral , Sobrevivência Celular , Intervalo Livre de Doença , Feminino , Humanos , Estabilidade Proteica , Vacúolos/metabolismo , Vacúolos/ultraestrutura
17.
Gene ; 705: 177-180, 2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-30986449

RESUMO

Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases.


Assuntos
Coloboma/patologia , Nistagmo Congênito/patologia , Nervo Óptico/anormalidades , Fator de Transcrição PAX6/genética , Mutação Puntual , Sequenciamento Completo do Exoma/métodos , Pré-Escolar , Coloboma/genética , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Nistagmo Congênito/genética , Disco Óptico/patologia , Nervo Óptico/patologia , Linhagem , Fenótipo , Gravação em Vídeo
18.
Orphanet J Rare Dis ; 14(1): 68, 2019 03 20.
Artigo em Inglês | MEDLINE | ID: mdl-30894207

RESUMO

BACKGROUND: The Korean Undiagnosed Diseases Program (KUDP) was launched in January 2017 as a one-year pilot project to address the increasing global interest in patients with undiagnosed rare diseases. The purpose of this paper is to summarize the project results and emphasize the unmet research needs among patients with undiagnosed rare diseases in Korea. RESULTS: Patient enrollment, assessment, and diagnostic processes were determined by the KUDP clinical expert consortium. Patients followed a diagnostic workflow after being categorized into one of four groups: I) insufficient clinical information or lack of standard diagnostic processes; II) undiagnosed due to low disease awareness; III) clinically diagnosed but unconfirmed genetically due to genetic heterogeneities; or IV) unknown disease due to complex, atypical clinical presentations. After excluding two patients from group I, 97 patients were enrolled, including 10 in group II, 67 in group III, and 20 in group IV. Most of them (92 of 97, 94.8%) were pediatric patients (< 18 years old) and 59 (60.8%) were male. The primary symptoms for 80 patients (82.5%) were neurologic. During the one-year pilot study, 72 patients completed a diagnostic assessment including clinical and molecular genetic analyses; some patients also underwent pathological or biochemical analysis. Twenty-eight of these patients (28/72, 38.9%) achieved molecular genetic diagnosis. Thirteen patients were diagnosed based on traditional tests, including biochemical assay, single or targeted genetic analysis, and chromosomal microarray. We performed whole exome sequencing on 52 patients, among whom 15 (28.8%, 15/52) reached a final diagnosis. One new disorder was identified via international collaboration. CONCLUSIONS: Using an efficient clinical diagnostic workflow, this KUDP pilot study resulted in a fair diagnostic success rate, improving the potential for additional diagnoses and new scientific discovery of complex and rare diseases. KUDP also satisfied unmet needs for rare diseases with multisystem involvement, highlighting the value of emerging genomic technologies for further research into rare and still-undiagnosed conditions.


Assuntos
Programas Nacionais de Saúde/estatística & dados numéricos , Doenças Raras/epidemiologia , Humanos , Projetos Piloto , República da Coreia/epidemiologia
19.
Environ Res ; 172: 446-453, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30831434

RESUMO

BACKGROUND: Pyrethroid pesticides are reported to be the most commonly used residential insecticides worldwide. We aimed to investigate the relationship between prenatal and postnatal 3-phenoxybenzoic acid (3-PBA) concentrations, and growth and adiposity parameters in 4-year-old children. METHOD: We obtained data from 578 children who participated in the prospective Environment and Development of Children (EDC) study at around 4 years of age (45-55 months) between August 2008 and July 2011. Anthropometric measurements were obtained at age 4 years. Prenatal and postnatal urinary 3-PBA concentration was measured in maternal urine samples at around 20 weeks of gestation, and in the 4-year-old children, respectively. RESULT: The detection frequency of urinary 3-PBA (geometric mean concentration) was 98-99% (0.98 µg/g Cr) in maternal urine, and almost 99-100% (1.34 µg/g Cr) in 4-year-old children. Prenatal urinary3-PBA concentration was not associated with height, weight, or body mass index (BMI) z-scores at 4 years of age, regardless of sex. Postnatal urinary3-PBA concentration was not related to height z-scores, but was positively associated with weight z-scores with marginal significance among only girls (p = 0.058). Analyzed by sex, there was a significant relationship between postnatal urinary 3-PBA concentration and BMI z-scores (p = 0.015) among girls, after adjusting for covariates. CONCLUSION: Childhood urinary 3-PBA concentration measured at 4 years of age was positively associated with BMI z-scores in 4-year-old girls, but prenatal urinary 3-PBA concentration at midterm pregnancy exhibited no association.


Assuntos
Adiposidade , Benzoatos , Poluentes Ambientais , Benzoatos/efeitos adversos , Benzoatos/urina , Pré-Escolar , Poluentes Ambientais/efeitos adversos , Poluentes Ambientais/urina , Feminino , Humanos , Obesidade/induzido quimicamente , Obesidade/epidemiologia , Gravidez , Estudos Prospectivos
20.
Seizure ; 65: 151-158, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30718217

RESUMO

PURPOSE: Arterial spine labeling (ASL) magnetic resonance imaging (MRI) is the non-invasive measurement of cerebral blood flow that can localize the seizure focus in patients with epilepsy. The aim of this study was to identify its utility for localizing the seizure focus in children with no structural lesion on MRI. METHODS: Forty-three consecutive children who underwent electroencephalography (EEG) and structural MRI, along with ASL for evaluation of newly developed seizures, were included. ASL abnormalities were classified as hypo/hyperperfusion, based on visual assessment, and compared with the seizure focus determined by clinical information and EEG. RESULTS: Among the 43 patients (M 17: F 26, mean age, 6.3 ± 3.3 years), the seizure type was focal in 36 patients and generalized in seven patients. Twenty-five (58.1%) patients showed perfusion change. Out of 36 patients with focal seizure, 24 (66.7%) showed ASL abnormalities, and 19 (52.8%) showed concordance between ASL and clinical focus. Out of seven patients with generalized seizure, only one patient showed ASL abnormalities. The overall concordance revealed moderate agreement (k = 0.542). ASL acquisition within one day from seizure onset was the only significant associating factor with the concordance between the two (p = 0. 014). CONCLUSION: To our knowledge, this is the first study to assess the usefulness of ASL MRI to assist in localizing the seizure focus in MR-negative children with new onset seizures. The combined use of ASL with EEG and structural MRI may play an important role in the evaluation of pediatric epilepsy.


Assuntos
Imagem por Ressonância Magnética , Convulsões/diagnóstico por imagem , Adolescente , Mapeamento Encefálico , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Masculino , Marcadores de Spin , Estatísticas não Paramétricas
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