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PURPOSE: We sought to develop a matrix assisted laser desorption ionization-time of flight (MALDI-TOF)-based, ovarian cancer (OVC), low-mass-ion discriminant equation (LOME) and to evaluate a possible supportive role for triple-TOF mass analysis in identifying metabolic biomarkers. MATERIALS AND METHODS: A total of 114 serum samples from patients with OVC and benign ovarian tumors were subjected to MALDI-TOF analysis and a total of 137 serum samples from healthy female individuals and patients with OVC, colorectal cancer, hepatobiliary cancer, and pancreatic cancer were subjected to triple-TOF analysis. An OVC LOME was constructed by reference to the peak intensity ratios of discriminatory low-mass ion (LMI) pairs. Triple-TOF analysiswas used to select and identify metabolic biomarkers for OVC screening. RESULTS: Three OVC LOMEs were finally constructed using discriminatory LMI pairs (137.1690 and 84.4119 m/z; 496.5022 and 709.7642 m/z; and 524.5614 and 709.7642 m/z); all afforded accuracies of > 90%. The LMIs at 496.5022 m/z and 524.5614 m/z were those of lysophosphatidylcholine (LPC) 16:0 and LPC 18:0. Triple-TOF analysis selected seven discriminative LMIs; each LMI had a specificity > 90%. Of the seven LMIs, fourwith a 137.0455 m/z ion atretention times of 2.04-3.14 minuteswere upregulated in sera from OVC patients; the ion was identified as that derived from hypoxanthine. CONCLUSION: MALDI-TOF–based OVC LOMEs combined with triple-TOF–based OVC metabolic biomarkers allow reliable OVC screening; the techniques are mutually complementary both quantitatively and qualitatively.
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Femenino , Humanos , Biomarcadores , Neoplasias Colorrectales , Hipoxantina , Lisofosfatidilcolinas , Tamizaje Masivo , Espectrometría de Masas , Neoplasias Ováricas , Neoplasias Pancreáticas , Sensibilidad y EspecificidadRESUMEN
PURPOSE: To study the usefulness of the procalcitonin (PCT) test in young febrile infants between 1 and 3 months of age. METHODS: We evaluated the medical records of 336 febrile infants between 1 and 3 months of age who visited the Emergency Department or outpatient department of Samsung Changwon Hospital from May 2015 to February 2017, and analyzed the clinical characteristics between infants in the serious bacterial infection (SBI) group and non-SBI group. RESULTS: Among the 336 infants, 38 (11.3%) had definitive SBI (bacteremia, n=3; meningitis, n=1; urinary tract infection, n=34). The mean PCT (6.4±11.9 ng/mL) and C-reactive protein (CRP) level (3.8±2.6 mg/dL), and the absolute neutrophil count (ANC) (6,984±4,675) for patients in the SBI group were significantly higher than those for patients in the non-SBI group (PCT, 0.3±1.2 ng/mL; CRP, 1.3±1.6 mg/dL; ANC, 4,888±3,661). PCT had lower sensitivity (43.6%), but higher specificity (92.6%) and accuracy (86.9%) than CRP (92.3%, 25.3%, and 33.0%) for identifying SBI. The area under the receiver operating characteristic curves (AUCs) for definitive SBI were PCT 77.0%, CRP 80.8%, WBC 56.8%, ANC 67.8%, and PLT 48.1%. The AUCs for definitive SBI were PCT+CRP 85.4%, PCT+WBC 77.2%, PCT+ANC 81.3%, CRP+WBC 80.1%, and CRP+ANC 81.6%. CONCLUSION: Our results suggest that the PCT test or a combination of PCT and CRP tests is a more accurate and specific biomarker to detect and rule out SBIs.
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Humanos , Lactante , Área Bajo la Curva , Infecciones Bacterianas , Proteína C-Reactiva , Servicio de Urgencia en Hospital , Fiebre , Registros Médicos , Meningitis , Neutrófilos , Pacientes Ambulatorios , Curva ROC , Sensibilidad y Especificidad , Infecciones UrinariasRESUMEN
Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63 gene. Six isoforms are generated from the TP63 gene mutation and the main isoform expressed in postnatal skin is Np63a, which functions as a key regulator of epidermal integrity. We have experienced a 1-day-old female baby with skin erosions, ankyloblepharosis, and cleft palate that require treatment for skin care and feeding difficulties. Missense mutation in TP63 1657(th) T → A transition was found in the genetic test performed in the patient, and this genotype has not been reported in a previously variant. The patient was found dead at 91days of birth and the cause of death was estimated by aspiration.
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Femenino , Humanos , Causas de Muerte , Fisura del Paladar , Displasia Ectodérmica , Genotipo , Labio , Mutación Missense , Hueso Paladar , Parto , Isoformas de Proteínas , Piel , Cuidados de la PielRESUMEN
PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is a rare paroxysmal movement disorder characterized by recurrent and brief dyskinesia attacks triggered by sudden voluntary movement. The diagnosis of PKD is based on clinical findings, and mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified as the cause of PKD. Two Korean cohorts have been reported on PRRT2 mutation analysis in PKD patients. The purpose of this study was to determine the mutation spectrum of the PRRT2 gene and to examine the clinical characteristics associated with PRRT2 mutations. METHODS: We studied 23 members of four families with familial PKD and two families with sporadic PKD which included 9 patients and 2 patients, respectively. Mutation analysis of the PRRT2 gene was performed using Sanger sequencing. Clinical features of PKD were compared between patients with a PRRT2 mutation and those with no detectable PRRT2 mutation. RESULTS: PRRT2 mutations were detected in three of four PKD families (75%), and in none of the two sporadic cases (0%). All detected PRRT2 mutations were c.649dupC (p.Arg217Profs*8). Subjects with detected PRRT2 mutations had earlier age at onset and longer duration of attacks. CONCLUSION: As previously reported in Korean PKD patients, our results confirmed that PRRT2 is a major causative gene for familial PKD, and the c.649dupC is the most frequent mutation. PRRT2 mutation analysis is required for the molecular diagnosis of familial PKD and for evaluating the clinical manifestations of PKD.
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Humanos , Edad de Inicio , Estudios de Cohortes , Diagnóstico , Discinesias , Distonía , Trastornos del MovimientoRESUMEN
We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB gene. Especially, we confirmed marked higher levels of C5-OH on breast milk spot by LC-MS/MS, in the case of maternal 3-MCC deficiency vs. controls.
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Femenino , Humanos , Lactante , Recién Nacido , Mama , Exones , Espectrometría de Masas , Leche Humana , Biología Molecular , Tamizaje NeonatalRESUMEN
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
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Humanos , Diagnóstico , Epilepsia , Servicios de Planificación Familiar , Estudios de Seguimiento , Heparitina Sulfato , Discapacidad Intelectual , Enfermedades por Almacenamiento Lisosomal , Mucopolisacaridosis , Mucopolisacaridosis III , NeumoníaRESUMEN
Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness. The seizures evolved into epilepsia partialis continua and were accompanied by epileptiform discharges from the left frontal area. Three weeks after admission, the patient's seizures were reduced with antiepileptic drugs; however, she developed sleep disturbances, cognitive decline, noticeable oro-lingual-facial dyskinesia, and choreoathetoid movements. Anti-NMDAR encephalitis was confirmed by positive detection of NMDAR antibodies in the patient's serum and cerebrospinal fluid, and her condition slowly improved with immunoglobulin, methylprednisolone, and rituximab. At present, the patient is no longer taking multiple antiepileptic or antihypertensive drugs. Moreover, the patient showed gradual improvement of motor and cognitive function. This case serves as an example that a diagnosis of anti-NMDAR encephalitis should be considered when children with uncontrolled seizures develop dyskinesias without evidence of malignant tumor. In these cases, aggressive immunotherapies are needed to improve the outcome of anti-NMDAR encephalitis.
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Niño , Preescolar , Femenino , Humanos , Encefalitis Antirreceptor N-Metil-D-Aspartato , Anticuerpos , Anticonvulsivantes , Antihipertensivos , Líquido Cefalorraquídeo , Cognición , Estado de Conciencia , Ácido D-Aspártico , Diagnóstico , Discinesias , Encefalitis , Epilepsia Parcial Continua , Fiebre , Inmunoglobulinas , Inmunoterapia , Corea (Geográfico) , Metilprednisolona , Rituximab , Convulsiones , VirosisRESUMEN
BACKGROUND: Changes in levels of trace elements have been proposed to underlie febrile seizures. Particularly, low zinc levels have been proposed as related factor of febrile seizure. In this study, we investigated whether mean serum zinc levels differed between children with febrile seizure and afebrile seizure. METHODS: Using inductively coupled plasma mass spectrometry, serum zinc levels were measured in 288 children who had been diagnosed with febrile seizures (N=248) and afebrile seizures (N=40). Mean serum zinc levels were compared between the 2 groups. RESULTS: Mean serum zinc level was 60.5+/-12.7 microg/dL in the febrile seizure group and 68.9 +/-14.5 microg/dL in the afebrile seizure group. A significant difference in serum zinc levels was observed between the febrile and afebrile seizure groups (P<0.001). CONCLUSIONS: Zinc levels in children with febrile seizure were significantly lower than those in children with afebrile seizure.
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Preescolar , Femenino , Humanos , Lactante , Masculino , Espectrometría de Masas , Convulsiones/sangre , Convulsiones Febriles/sangre , Zinc/sangreRESUMEN
OBJECTIVE: To investigate the prevalence of dementia and its correlates among people with poor socioeconomic status, poor social support systems, and poor performance on the Korean version of the Mini-Mental Status Exam (MMSE-KC). METHODS: We used 2006-2009 data of the National Early Dementia Detection Program (NEDDP) conducted on Jeju Island. This program included all residents >65 years old who were receiving financial assistance. We examined those who performed poorly (standard deviation from the norm of <-1.5) on the MMSE-KC administered as part of the NEDDP, using age-, gender-, and education-adjusted norms for Korean elders. A total of 1708 people were included in this category. RESULTS: The prevalence of dementia in this group was 20.5%. Multivariate logistic regression analysis revealed that the following factors were statistically significantly associated with dementia: age of 80 or older, no education, nursing home residence, and depression. CONCLUSION: The prevalence of dementia is very high among those with lower MMSE-KC scores, and significant correlates include older age, no education, living in a nursing home, and depression. Enhancing lifetime education to improve individuals' cognitive reserves by providing intellectually challenging activities, encouraging living at home rather than in a nursing home, and preventing and treating depression in its early phase could reduce the prevalence of dementia in this population.
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Reserva Cognitiva , Demencia , Depresión , Educación en Enfermería , Modelos Logísticos , Casas de Salud , Prevalencia , Clase SocialRESUMEN
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
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Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Análisis Mutacional de ADN , Distrofina/genética , Exones , Heterocigoto , Reacción en Cadena de la Ligasa , Reacción en Cadena de la Polimerasa Multiplex , Distrofia Muscular de Duchenne/genética , Mutagénesis Insercional , República de Corea , Análisis de Secuencia de ADN , Eliminación de SecuenciaRESUMEN
Several compounds and extracts isolated from a brown alga, Ishige (I.) okamurae, exhibit anti-oxidant and anti-inflammatory effects. The present study investigated whether the ethyl acetate (EtOAc) fraction of I. okamurae (EFIO) could ameliorate carbon tetrachloride (CCl4)-induced hepatotoxicity in rats. Sprague-Dawley rats were intraperitoneally (i.p.) administered with EFIO at 10 or 50 mg/kg per day for 2 consecutive days before CCl4 injection (3.3 mL/kg, i.p.). Twenty four hours later, the rats were anesthesized with diethyl ether and dissected. Pretreatment with EFIO significantly reduced the increased serum levels of alanine aminotransferase and aspartate aminotransferase in CCl4-treated rats. Pretreatment with EFIO also significantly inhibited the reduced activities of superoxide dismutase and catalase in the CCl4-injured liver. Histopathological evaluations showed that hemorrhage, hepatocyte necrosis, inflammatory cell infiltration, and fatty degeneration induced by CCl4 treatment were ameliorated by the administration of EFIO. Additionally, liver immunohistochemical analyses revealed the marked reduction in ED1-positive monocyte-like macrophages in EFIO-pretreated rats given CCl4. These results suggest that EFIO ameliorates CCl4-induced liver injury, possibly through the inhibition of oxidative stress.
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Animales , Ratas , Acetatos , Alanina Transaminasa , Aspartato Aminotransferasas , Carbono , Tetracloruro de Carbono , Catalasa , Éter , Hemorragia , Hepatocitos , Hígado , Macrófagos , Necrosis , Estrés Oxidativo , Ratas Sprague-Dawley , Superóxido DismutasaRESUMEN
Hypoglossal nerve palsy (HNP) is an uncommon neurological abnormality that can provoke characteristic clinical signs, including unilateral atrophy of the tongue musculature. We present the case of a healthy 11-year-old Korean male who was admitted to the outpatient department of our institution with acute onset dysarthria, tongue fasciculations, and right-sided tongue weakness upon awakening. His evaluation included a virology work-up, neck magnetic resonance imaging (MRI), brain MRI, and otorhinolaryngological physical examination; all tests were normal and showed no evidence of inflammation. Fifteen days after the onset of symptoms, the patient recovered completely. Herein, we report a case of idiopathic isolated HNP in a Korean male.
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Niño , Humanos , Masculino , Atrofia , Encéfalo , Disartria , Fasciculación , Nervio Hipogloso , Enfermedades del Nervio Hipogloso , Inflamación , Imagen por Resonancia Magnética , Cuello , Pacientes Ambulatorios , Parálisis , LenguaRESUMEN
PURPOSE: Juvenile dermatomyositis (JDM) is a common inflammatory myopathy in childhood. However, the diagnosis is often delayed because it frequently present with non-specific symptoms. In addition, there are conflicting opinions about the prognostic factors of JDM. The aim of this study is to delineate the initial clinical symptoms and prognostic factors of JDM. METHODS: We retrospectively reviewed the medical records of 15 patients who were diagnosed as JDM, in Samsung medical center between Dec 1994 and Aug 2011. RESULTS: We enrolled 15 patients (M:F=9:6). Among the 14 patients who were followed-up for more than six months, six patients were included in remission group, five in partial remission group, and the other three in non-remission group. The initial symptoms were skin lesions (80.0%), muscle weakness (53.3%), and pain of joint or muscle (46.7%). The interval between initial symptoms and clinical diagnosis was mean 0.4 (0.1-2.4) years. Nine patients (60%) were taken more than two months for diagnosis. The symptoms at diagnosis were motor weakness and skin rash in all patients, myalgia or arthralgia in 12 (75%) patients. The mood changes such as depression, irritability, easy fatigability were noted in 10 (66.7%) patients. There were no significant prognostic factors. CONCLUSION: Although JDM may initially present with nonspecific symptoms in children, it should be suspected in case of acute progressive motor weakness with symmetric skin rash and mood change. About three quarters of the patients were under control with treatment and there were no significant prognostic factors in this study.
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Niño , Humanos , Artralgia , Depresión , Dermatomiositis , Exantema , Articulaciones , Registros Médicos , Debilidad Muscular , Músculos , Miositis , Estudios Retrospectivos , PielRESUMEN
PURPOSE: Iodine is an essential component of thyroid hormones, and iodine deficiency disorder, including mental retardation, hypothyroidism, goiter, cretinism, and developmental abnormalities is the world's greatest single cause of preventable brain damage. Urine iodine (UI) is a sensitive indicator of recent changes in iodine intake. The objective of this study was to analyze the UI concentration in children younger than 7 years of age. METHODS: This population-based cross sectional study was conducted in four nurseries, three kindergartens, and the Samsung Changwon Hospital of Masan city in Korea from February to June 2010. Three hundred eighty-one samples of urine and 345 simple questionnaires were collected from normally developed preschool children less than 7 years of age. Urine samples were transferred to the Department of Laboratory Medicine at Samsung Seoul Hospital to measure UI concentration by inductively coupled plasma-mass spectrometry (ICP-MS) method. RESULTS: The median UI concentration was 327.9 microg/L (range 26.3-19,152.0 microg/L). There were 38 (10.0%) children with insufficient iodine intake (UI less than 100 microg/L). Of all children tested, the percentage of children with excessive iodine intake (UI over 300 microg/L) was 54.9%, and extremely high values exceeding 1,000 microg/L were found in 15.5% of investigated children. There was a significant difference in the median UI concentration between three age groups (P<0.05) but no significance between males and females. CONCLUSION: After measuring UI concentration, we report excessive iodine intake in preschool children less than 7 years of age in Masan city, Korea. In our population sample, we found that 10.0% of children had iodine deficiency.
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Anciano , Niño , Preescolar , Humanos , Masculino , Encéfalo , Hipotiroidismo Congénito , Bocio , Hipotiroidismo , Discapacidad Intelectual , Yodo , Corea (Geográfico) , Nitroimidazoles , Casas Cuna , Encuestas y Cuestionarios , Análisis Espectral , Sulfonamidas , Hormonas TiroideasRESUMEN
PURPOSE: The purpose of this study was to assess the current therapeutic status of attention deficit-hyperactivity disorder (ADHD) in children with epilepsy. METHODS: A cross-sectional survey of 178 patients aged 4-20 years from ten pediatric neurology clinics in eight cities in South Korea from January 2005 to July 2010 was used to assess clinical characteristics of ADHD patients with epilepsy and risk factors associated with ADHD. RESULTS: A total of 178 pediatric epileptic patients were recruited for this study. One hundred seventy-four subjects' (M:F=4:1, mean age: 12.2+/-3.3 yrs old) records were evaluated excluding four patients due to incomplete data. One hundred twenty-five of 174 patients (71.8%) had partial epilepsy and 45 had generalized epilepsy. Eighty of 112 patients showed ADHD combined type from the DSM IV. The mean prevalence rate of ADHD treatment among the epileptic patients was 1.9%. Over 45% of patients showed complete or persistent symptoms without difficulties in school life with CNS stimulants. Adverse reactions were reported in 19.8% of patients who received ADHD medication, and 18 patients discontinued ADHD medication due to severe adverse effects such as aggravated seizures (5.6%) or ADHD symptoms (3.7%). About 60% of children with ADHD and epilepsy had psychiatric comorbid disorders. CONCLUSION: The results indicate that ADHD treatment in epilepsy patients is safe and effective. However, these data also show that ADHD in pediatric epilepsy patients in Korea is under-diagnosed and under-treated.
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Anciano , Niño , Humanos , Trastorno por Déficit de Atención con Hiperactividad , Estudios Transversales , Epilepsias Parciales , Epilepsia , Epilepsia Generalizada , Corea (Geográfico) , Neurología , Prevalencia , República de Corea , Estudios Retrospectivos , Factores de Riesgo , ConvulsionesRESUMEN
PURPOSE: The purpose of this study was to evaluate the clinical course and prognosis of migraines in childhood and adolescence, and the influence of preventive therapy on them. METHODS: We recruited 110 children and adolescents with migraines who had been newly diagnosed and treated. Treatment was composed of observation after consultation, acute symptomatic treatment, and preventive therapy. We prescribed topiramate for preventive therapy. The recipients of preventive therapy were those patients who complained of disturbance in daily life due to severe headache. The clinical course was evaluated on the basis of changes in the frequency of migraine attack and was divided into three groups: complete recovery, partial recovery, and non-recovery. The prognosis of migraine was classified into those free from migraine attack, decreased, and persistant. RESULTS: Forty-six (41.8%) of 110 patients completely recovered, and 70 (63.6%) were free from migraine attack. In those suffering from migraines without aura, 38.3% of the patients completely recovered and 59.6% were free from migraine attack. Regarding migraines with aura, 58.5% of the patients completely recovered and 70.7% were free from migraine attack. With respect to cases of probable migraine, 18.2% completely recovered and 59.6% were free from migraine attack. In those receiving preventive treatment, 80.0% of all patients completely recovered and 85.0% were free from migraine. According to migraine type, 66.7% of patients with migraine without aura completely recovered and 80% were free from migraine. In those with migraine and aura, 88.8% of patients completely recovered and 88.8% were free from migraine attack. CONCLUSION: It was estimated that the clinical course and prognosis of migraine patients who were treated by pediatric neurologists were generally good. The clinical course was better in the preventive therapy group. In particular, the effect of preventive treatment and prognosis were optimal in patients with migraine with aura.
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Adolescente , Niño , Humanos , Epilepsia , Fructosa , Cefalea , Trastornos Migrañosos , Migraña con Aura , Migraña sin Aura , Pronóstico , Estrés PsicológicoRESUMEN
PURPOSE: Through a clinical and retrospective analysis of pediatric patients who visited the Regional Emergency Medical Center of Masan Samsung Hospital from January 2007 to December 2008, we characterized pediatric and adolescent emergency patients to improve emergency care in future. METHODS: We reviewed the medical records of 14,065 pediatric patients below 19 years of age. RESULTS: The male to female ratio was 1.5:1, and the most common age group was less than 3 years (49.6%). The peak month was May (10.0%), the peak day of the week was Sunday (24.7%), and the peak time of day was 20:00.20:59 (8.5%). There was no difference in the number of visits per day based on weather (sunny, rain [below 10 mm per day], snow, and fog) or daily temperature difference; however, visits increased on sandy, dusty days and decreased on rainy days with more than 10 mm of rain per day. Based on the international classification of disease (ICD)-10 system, the most common disease code was code R (symptoms, sign, and abnormal clinical laboratory finding) (31.5%), and the most common symptom was fever (13.1%). Final outcomes were discharged (73.8%), admitted (25.7%), transferred (0.4%), and expired (0.1%). In adolescent patients aged 15.19 years, the most common disease code was Injury & Poisoning (code S&T, 36.9%); the most common symptom was abdominal pain (9.6%). CONCLUSION: Pediatric patients visiting the emergency center were most likely to be male and under 3 years of age and to visit between 20:00 and 21:00 on Sundays and in May, and the most common symptom was fever. Differences between adolescents and pediatric patients showed that adolescents had a higher visiting rate with abdominal pain and a larger temperature difference.
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Adolescente , Anciano , Niño , Femenino , Humanos , Lactante , Masculino , Dolor Abdominal , Urgencias Médicas , Servicios Médicos de Urgencia , Fiebre , Hospitales Generales , Registros Médicos , Nitroimidazoles , Lluvia , Estudios Retrospectivos , Nieve , Sulfonamidas , Tiempo (Meteorología)RESUMEN
PURPOSE: The purpose of this study was to evaluate whether the therapeutic effects of topiramate differ according to the types of migraine. METHODS: We recruited 38 children and adolescents with migraine who had been treated with topiramate. The effect of topiramate was evaluated on the basis of the change in the frequency of migraine attacks after treatment. RESULTS: Among patients having migraine with aura, 85.7% showed complete recovery, 1 (7.1%) showed partial recovery, and 1 did not show any recovery. Among patients having migraine without aura, 47.1% showed complete recovery, 29.4 % showed partial recovery, and 23.5% showed no recovery. Among patients suspected with migraine, 1 (20%) showed complete recovery, 1 (20%) showed partial recovery, and 3 (60%) showed no recovery. CONCLUSION: Our results indicated that topiramate exhibited excellent therapeutic effects for migraine accompanied with aura, and it was effective in migraine without aura. However, the effect of topiramate in patients suspected with migraine was uncertain.
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Adolescente , Niño , Humanos , Epilepsia , Fructosa , Trastornos Migrañosos , Migraña con Aura , Migraña sin AuraRESUMEN
Meningococcal infections can be associated with abnormalities of the complement system, which contains 5 terminal complement proteins. Furthermore, deficiencies in 1 of these 5, complement component 7 (C7), leads to the loss of complement lytic function, and affected patients show increased susceptibility to recurrent meningococcal meningitis and systemic Neisseria gonorrhoeae infection. In September 2003, an 11-year-old female patient presented at our outpatient department with high fever, lower leg pain, headache, and petechiaes. She rapidly progressed to coma but later achieved full recovery due to prompt treatment. Her final diagnosis was meningococcal sepsis and arthritis. Her elder brother also had a similar bacterial meningoencephalitis history, which encouraged us to perform analyses for complement component and gene mutations. Resultantly, both the brother and sister were found to have the same mutation in the C7 gene. Subsequently, vaccinations of the meningococcal vaccine meningococcal vaccine (Menomune(R)) were administered. However, in September 2006, the brother expired due to acute micrococcus meningoencephalitis. At present, the 16-year-old female patient is healthy. Here, we report a Korean family with a hereditary C7 deficiency with susceptibility to meningococcal infections due to C7 gene mutation.
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Adolescente , Niño , Femenino , Humanos , Artritis , Coma , Complemento C7 , Proteínas del Sistema Complemento , Fiebre , Cefalea , Síndromes de Inmunodeficiencia , Pierna , Meningitis Meningocócica , Infecciones Meningocócicas , Vacunas Meningococicas , Meningoencefalitis , Micrococcus , Neisseria gonorrhoeae , Pacientes Ambulatorios , Sepsis , Hermanos , VacunaciónRESUMEN
Streptococcus pneumoniae is a major cause of serious invasive diseases in children, especially in young infants, but seven-valent pneumococcal conjugate vaccine (PCV7) is believed to prevent invasive pneumococcal pneumonia and meningitis in young children. However, recently, the incidence of non-PCV7 serotype has increased after PCV7 vaccination. A 14-month-old female patient presented at our emergency room with mental change and lethargy. Three days previously, she had developed fever and vomiting. After being admitted, she rapidly progressed to coma and brain death despite prompt and extensive supportive treatment. She expired 20 days after admission with a final diagnosis of pneumococcal 19A (non-PCV7 serotype) meningoencephalitis despite having received PCV7 (Prevenar(R)) vaccinations on three occasions. The author reports this first fatality due to pneumococcal 19A meningoencephalitis in Korea and provides a brief review of the literature.