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1.
Keimyung Medical Journal ; : 97-100, 2020.
Artículo en Coreano | WPRIM | ID: wpr-901484

RESUMEN

Acute confusional migraine (ACM) is a rare type of migraine variant. It is primary seen in adolescent with migraine history. The specific symptom is an acute confusional mental change after acute onset headache. Symptoms include decreased alertness, disorientation, speech disturbance, agitation, difficulty in recognizing family and familiar locations, and amnesia. Patients mainly visit to emergency department due to acute mental problems. But there are no specific findings in neuroradiologic examinations and laboratory tests in ACM patients. And ACM is not widely known disease to physicians. So it takes long time to exclude other disorders and dysfunctions until to reach the diagnosis. Patient’s history of migraine, family history, and spontaneous relief of symptoms after deep sleep without medication can be helpful in diagnosis. We experienced a rare case of ACM of 13-year-old male patient, therefore we report the case with literature review.

2.
Keimyung Medical Journal ; : 97-100, 2020.
Artículo en Coreano | WPRIM | ID: wpr-893780

RESUMEN

Acute confusional migraine (ACM) is a rare type of migraine variant. It is primary seen in adolescent with migraine history. The specific symptom is an acute confusional mental change after acute onset headache. Symptoms include decreased alertness, disorientation, speech disturbance, agitation, difficulty in recognizing family and familiar locations, and amnesia. Patients mainly visit to emergency department due to acute mental problems. But there are no specific findings in neuroradiologic examinations and laboratory tests in ACM patients. And ACM is not widely known disease to physicians. So it takes long time to exclude other disorders and dysfunctions until to reach the diagnosis. Patient’s history of migraine, family history, and spontaneous relief of symptoms after deep sleep without medication can be helpful in diagnosis. We experienced a rare case of ACM of 13-year-old male patient, therefore we report the case with literature review.

3.
Keimyung Medical Journal ; : 33-38, 2019.
Artículo en Coreano | WPRIM | ID: wpr-917017

RESUMEN

To prevent the spread of influenza among infants and adolescents attending kindergartens and schools, proper quarantining of those who are ill is necessary. In this study, the rapid antigen test (RAT) was performed in patients to investigate the factors affecting the duration of virus shedding. The study included pediatric patients who were diagnosed with influenza by RAT at Daedong Hospital between November 2016 and April 2019. We identified the influenza subtype, age, gender, fever duration, oseltamivir medications, and time gap between fever subsided and RAT examination through chart review. A total of 330 patients were examined at discharge. The average age for RAT positive and negative patients was 6.32 ± 4.26 years and 8.47 ± 4.54 years, respectively. The average duration of fever for the RAT positive patients was 3.84 ± 1.09 days, and for those who were RAT negative was 4.191 ± 1.39. The average number of doses oseltamivir for RAT positive and negative patients was 7.68 ± 1.57 and 8.72 ± 1.37, respectively. The RAT was performed 24 to 48 hours after fever subsided (TG 24–48H group). At this time, 60 patients were positive and the rate of positive expression was 55.56%. Of the TG 48–72H group, 36 patients (26.09%) were positive. Of the TG 72–96H group, 18 patients (21.43%) were positive. Age, fever duration, number of doses oseltamivir and time gap after fever subsided were the factors that influenced the duration of influenza virus shedding. These factors should be considered during the quarantining influenza patients.

4.
Keimyung Medical Journal ; : 33-38, 2019.
Artículo en Coreano | WPRIM | ID: wpr-917009

RESUMEN

To prevent the spread of influenza among infants and adolescents attending kindergartens and schools, proper quarantining of those who are ill is necessary. In this study, the rapid antigen test (RAT) was performed in patients to investigate the factors affecting the duration of virus shedding. The study included pediatric patients who were diagnosed with influenza by RAT at Daedong Hospital between November 2016 and April 2019. We identified the influenza subtype, age, gender, fever duration, oseltamivir medications, and time gap between fever subsided and RAT examination through chart review. A total of 330 patients were examined at discharge. The average age for RAT positive and negative patients was 6.32 ± 4.26 years and 8.47 ± 4.54 years, respectively. The average duration of fever for the RAT positive patients was 3.84 ± 1.09 days, and for those who were RAT negative was 4.191 ± 1.39. The average number of doses oseltamivir for RAT positive and negative patients was 7.68 ± 1.57 and 8.72 ± 1.37, respectively. The RAT was performed 24 to 48 hours after fever subsided (TG 24–48H group). At this time, 60 patients were positive and the rate of positive expression was 55.56%. Of the TG 48–72H group, 36 patients (26.09%) were positive. Of the TG 72–96H group, 18 patients (21.43%) were positive. Age, fever duration, number of doses oseltamivir and time gap after fever subsided were the factors that influenced the duration of influenza virus shedding. These factors should be considered during the quarantining influenza patients.

5.
Keimyung Medical Journal ; : 33-38, 2019.
Artículo en Coreano | WPRIM | ID: wpr-786188

RESUMEN

To prevent the spread of influenza among infants and adolescents attending kindergartens and schools, proper quarantining of those who are ill is necessary. In this study, the rapid antigen test (RAT) was performed in patients to investigate the factors affecting the duration of virus shedding. The study included pediatric patients who were diagnosed with influenza by RAT at Daedong Hospital between November 2016 and April 2019. We identified the influenza subtype, age, gender, fever duration, oseltamivir medications, and time gap between fever subsided and RAT examination through chart review. A total of 330 patients were examined at discharge. The average age for RAT positive and negative patients was 6.32 ± 4.26 years and 8.47 ± 4.54 years, respectively. The average duration of fever for the RAT positive patients was 3.84 ± 1.09 days, and for those who were RAT negative was 4.191 ± 1.39. The average number of doses oseltamivir for RAT positive and negative patients was 7.68 ± 1.57 and 8.72 ± 1.37, respectively. The RAT was performed 24 to 48 hours after fever subsided (TG 24–48H group). At this time, 60 patients were positive and the rate of positive expression was 55.56%. Of the TG 48–72H group, 36 patients (26.09%) were positive. Of the TG 72–96H group, 18 patients (21.43%) were positive. Age, fever duration, number of doses oseltamivir and time gap after fever subsided were the factors that influenced the duration of influenza virus shedding. These factors should be considered during the quarantining influenza patients.


Asunto(s)
Adolescente , Animales , Niño , Humanos , Lactante , Ratas , Fiebre , Gripe Humana , Orthomyxoviridae , Oseltamivir , Pediatría , Esparcimiento de Virus
6.
Pediatric Infection & Vaccine ; : 69-74, 2015.
Artículo en Coreano | WPRIM | ID: wpr-20247

RESUMEN

PURPOSE: In this study, doctors were surveyed with a questionnaire to determine whether they performed simultaneous vaccination and whether there were any concerns about safety or anxiety. The purpose of this study was to determine any problems associated with doctors readily performing simultaneous vaccination. METHODS: A trained surveyor visited 241 doctors from every institution registered with the National Immunization Program (NIP) located within six districts (gu) in the City of Busan (Dongnae-gu, Geumjeong-gu, Yeonje-gu, Suyeong-gu, Busanjin-gu, Haeundae-gu); a total of 155 (64%) valid responses were obtained. RESULTS: Of the 155 respondents, 144 (93%) were already performing simultaneous immunizations and 141 (91%) had a positive view of the practice. However, among the 144 doctors performing simultaneous immunizations, 67 (47%) were not confident about its safety; side effects were seen after simultaneous immunization by 86 doctors, 35 (41%) of whom believed that the frequency or possibility of side effects in simultaneous immunizations was higher than that in sequential immunizations. CONCLUSIONS: The use of simultaneous immunization is expanding quickly. However, among the doctors performing simultaneous immunizations, a high percentage had concerns over its unproven safety and potential side effects, indicating the need for academic societies or government institutions to present evidence to address such concerns.


Asunto(s)
Ansiedad , Encuestas y Cuestionarios , Inmunización , Programas de Inmunización , Vacunación
7.
Kosin Medical Journal ; : 37-45, 2014.
Artículo en Coreano | WPRIM | ID: wpr-124655

RESUMEN

OBJECTIVES: To compare the mortality rate of children under ages five from different countries by their causes and to explore the cause of death that is relatively higher in South Korea and came up with measures for resolution. METHODS: The statistics were based from section ICD(International Classification of Diseases)-10 of WHO(World Health Organization) Mortality Database. Among the OECD(Organization for Economic Cooperation and Development) countries, 15 countries with higher GDP(Gross Domestic Product) than South Korea were studied by the mortality rate from 2005 to 2010 sorted into two groups: 0 year group and 1-4 years group. Then the cause of death investigated in detail. RESULTS: Among the 15 countries, average mortality of 0 year group in Korea ranked 8th and the average mortality of 1-4 years group ranked 4th out of 15. There were no significance in the mortality of 0 year group caused by any specific disease, but unnatural death was ranked 2nd after the United States. The natural death of 1-4 years group was ranked 6th, and the unnatural death was ranked 2nd after the Unites States. Among the natural deaths of 1-4 years group, the cause of death significantly higher was found to be disease G(nervous system disease). Among the subgroups of disease G, the orders went epilepsy, cerebral palsy, paralysis, and inflammatory disease. CONCLUSIONS: We have identified major causes of death of children under age 5. The highest proportion of cause of death in 1-4 years group was nervous system disease and we have proposed resolution. Henceforth, this data will be used as a foundational data for formulating policies relation to the Mother-Child Health.


Asunto(s)
Niño , Humanos , Causas de Muerte , Parálisis Cerebral , Mortalidad del Niño , Clasificación , Epilepsia , Corea (Geográfico) , Mortalidad , Enfermedades del Sistema Nervioso , Parálisis , Estados Unidos , Organización Mundial de la Salud
8.
Kosin Medical Journal ; : 17-24, 2012.
Artículo en Coreano | WPRIM | ID: wpr-98971

RESUMEN

OBJECTIVES: Nowadays most infants on exclusively breast feeding have vitamin D deficiency due to the increase of breast feeding. However, domestic research lacks appropriate materials. Therefore, we researched practical clinical aspects of vitamin D deficiency related to breast milk feeding for infants who have a high amount of alkaline phosphatase (> 500 IU/L). METHODS: The subjects of the study were 31 infants with high alkaline phosphatase level. We tested with 25-hydroxycholecalciferol (25-OHD3), parathyroid hormone, calcium, ionized calcium, phosphorus in their blood and with a wrist x-ray. Then, we divided them into two groups of breast feeding and formula feeding and compared the results. RESULTS: Eighteen infants (58%) out of 31 infants that have high alkaline phosphatase were vitamin D insufficiency or deficiency, and 16 (100%) breast feeding infants of them showed vitamin D deficiency or insufficiency. However, only 2 (13%) of 15 formula feeding infants were at insufficiency. There was a correlation between alkaline phosphatase and 25-OHD3 concentration in multiple regression analysis, but no correlation in other variables was found in group of breast milk feeding infants. There was neither correlation between vitamin D concentration and alkaline phosphatase nor other correlated variables in the group of formula milk feeding infants. CONCLUSIONS: In this study, there was a high probability of vitamin D deficiency in the breast feeding infants with a high alkaline phosphatase level. Therefore, it is considered to be worth utilizing alkaline phosphatase as a screening test for vitamin D deficiency or rickets for breast feeding infants.


Asunto(s)
Humanos , Lactante , Fosfatasa Alcalina , Lactancia Materna , Calcifediol , Calcio , Tamizaje Masivo , Leche , Leche Humana , Hormona Paratiroidea , Fósforo , Raquitismo , Vitamina D , Deficiencia de Vitamina D , Vitaminas , Muñeca
9.
Journal of the Korean Child Neurology Society ; (4): 244-249, 2012.
Artículo en Coreano | WPRIM | ID: wpr-100025

RESUMEN

Cerebral Venous Sinus Thrombosis (CVST) in children is rare and its cause is multifactorial. The clinical manifestations of CVST vary and may cause long-term neurological sequelae and even death on rare occasion. In this case, a 15 year old boy presented with severe headache and vomiting for 1 day. Brain MRI with venography revealed multiple lesions of CVST in superior sagittal sinus and the left transverse sinus. Anticoagulation therapy was performed for 3 months, which led to the complete resolution in superior sagittal sinus and partial resolution in left transverse sinus.


Asunto(s)
Adolescente , Niño , Humanos , Encéfalo , Cefalea , Flebografía , Trombosis de los Senos Intracraneales , Seno Sagital Superior , Vómitos
10.
Journal of the Korean Child Neurology Society ; (4): 8-17, 2011.
Artículo en Coreano | WPRIM | ID: wpr-171524

RESUMEN

PURPOSE: The purpose of this study was to evaluate the clinical characteristics of children who had been diagnosed as specific language impairment as outpatients. METHODS: One hundred twenty-five speech- or language-delayed patients were enrolled in Dae-Dong Hospital from July 2007 to June 2008. Fifty-one of 125 children were diagnosed as specific language impairment in whom clinical factors such as duration of therapy and progress after therapy were evaluated. Data were obtained from telephone or direct personal interviews. RESULTS: Among 51 children diagnosed as specific language impairment, 39 (76.5%) had mixed receptive-expressive-type language disorder and 12 (23.5%) had expressive-type language disorder. Thirty children in total were studied as ten children were unavailable for follow-up and eleven dropped out during treatment. The final 30 children consisting of 23 with mixed receptive-expressive type language disorder and seven children with expressive-type language disorder were treated after diagnosis. Total average treatment duration of children with mixed receptive-expressive-type and expressive-type language disorder were 18.1 months and 8.6 months, respectively, a statistically significant difference (P = 0.014). Thirteen (57%) of 23 children with mixed receptive-expressive-type language disorder and all (100%) seven children with expressive-type language disorder completed speech therapy with an average treatment duration of 12.2 and 8.6 months, respectively; however, this difference was not statistically significant(P = 0.287). CONCLUSION: Classifying patients with specific language impairments into mixed receptive-expressive-type and expressive-type language disorder in an outpatient department can be useful for predicting duration of and prognostic effects of language therapy, as our study and other previous articles have shown. More attention is needed from pediatricians to ensure the effective assessment and management of specific language impairment.


Asunto(s)
Niño , Humanos , Sacarosa en la Dieta , Estudios de Seguimiento , Trastornos del Lenguaje , Terapia del Lenguaje , Pacientes Ambulatorios , Trastornos del Habla , Logopedia , Teléfono
11.
Journal of the Korean Society of Neonatology ; : 53-58, 2007.
Artículo en Coreano | WPRIM | ID: wpr-16827

RESUMEN

PURPOSE: Neonatal hyperbilirubinemia has benign courses in most cases, but the possibility of toxicity of hyperbilirubinemia required courses examination of every newborn infant to identify the severity of hyperbilirubinemia progress. This study aims to see how the body surface area of newborns influences the decline rate of serum bilirubin level in conventional phototherapy. METHODS: Based on the charts of the Pediatrics Department, Dae-Dong Hospital from January 2003 to December 2006, we analyzed 168 neonates diagnosed as neonatal hyperbilirubinemia (serum bilirubin > or =15 mg/dL) in retrospective way. We excluded newborn infants under 37 weeks of gestation and under 2,500 g birth weight and classified neonates into four groups by the calculation results of body surface area:males above 75 percentile (group A), males below 25 (group B), females above 75 (group C), and females below 25 (group D). RESULTS: Out of 168 samples, the number of group A, B, C, D was 30, 20, 20, 15 respectively. In conventional phototherapy, the mean decline rates of serum bilirubin of group B and D recording 2.09 mg/dL/day and 1.77 mg/dL/day, were significantly faster than those of group A and C recording 1.63 mg/dL/day and 1.41 mg/dL/day (P<0.01). No significant differences were found in different duration of phototherapy between groups below 25 percentile and those above 75 in both genders. CONCLUSION: In conclusion, body surface area influences of infants the decline rate of serum bilirubin level in conventional phototherapy.


Asunto(s)
Femenino , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Bilirrubina , Peso al Nacer , Superficie Corporal , Hiperbilirrubinemia , Hiperbilirrubinemia Neonatal , Pediatría , Fototerapia , Estudios Retrospectivos
12.
Experimental & Molecular Medicine ; : 119-125, 2006.
Artículo en Inglés | WPRIM | ID: wpr-15700

RESUMEN

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- 15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3+23C>G) was newly identified in three of the patients. IVS3+23C>G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymorphisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.


Asunto(s)
Masculino , Humanos , Femenino , Síndrome de Rett/diagnóstico , Polimorfismo de Nucleótido Simple , Polimorfismo de Longitud del Fragmento de Restricción , Reacción en Cadena de la Polimerasa , Mutación , Datos de Secuencia Molecular , Proteína 2 de Unión a Metil-CpG/genética , Corea (Geográfico) , Análisis Mutacional de ADN , Secuencia de Bases
13.
Korean Journal of Pediatrics ; : 260-265, 2005.
Artículo en Coreano | WPRIM | ID: wpr-192633

RESUMEN

PURPOSE: During epidemics, influenza induces a high mortality and morbidity, and when influenza is prevalent, it is revealed by increased pneumonia, hospitalization due to influenza-like illness, and mortality in community. We aimed at the isolation of influenza virus and prevalence period in Busan from 2000 to 2002. METHODS: For 3 years from 2000 to 2002, we analyzed the patterns of influenza virus, the occurrence distribution of influenza by age and sex and the prevalence period after cultivating the examined materials from throat smears and snivel, collected from patients in St. Benedict Hospital Pediatrics Department, from 10 monitoring hospitals, and from 16 public health centers. RESULTS: For three years, a total of 209 strains of influenza virus were isolated. In 2000, there were A/sydney/05/97(H3N2)-like, A/Beijing/262/95(H1N1)-like and B/Harbin/07/94-like. In 2001, there were A/Panama/2007/99(H3N2)-like and A/Newcaledonia/20/99(H1N1)-like. In 2002, there were A/Panama/ 2007/99(H3N2)-like, A/Newcaledonia/20/99(H1N1)-like, B/Beijing/243/97, B/Honkong/22/2001 and B/ Sichuam/379/99. The occurrence distribution by sexes were 14 males and 25 females in 2000, 23 males and 33 females in 2001, 57 males and 57 females in 2002. As for the occurrence distribution by ages, 0-10 years made up 48.4 percent in 2000, 11-20 years 33.93 percent in 2001, and below 10 years was 64.91 percent in 2002. As for the occurrence distribution by month, the rate was once high in January and somewhat high in April and by June, when there happened to be various viruses, though there was a low rate in 2000. On the other hand, the virus was concentrated in February and March in 2001. And in 2002, it happened high twice, in March and November. CONCLUSION: Influenza virus revealed frequent antigenic changes and infect children, especially those below 10 years of age from late fall to early spring. So we should consider appropriate prevention in children.


Asunto(s)
Niño , Femenino , Humanos , Masculino , Mano , Hospitalización , Gripe Humana , Mortalidad , Orthomyxoviridae , Pediatría , Faringe , Neumonía , Prevalencia , Salud Pública , Estudios Retrospectivos
14.
Korean Journal of Pediatrics ; : 1293-1299, 2004.
Artículo en Coreano | WPRIM | ID: wpr-46070

RESUMEN

PURPOSE: This study was performed to determine the relation between cord blood plasma cytokines responses and development of cerebral palsies in premature infants. METHODS: Interleukin-1beta(IL-1beta), Interleukin-6(IL-6), Tumor necrosis factor-alpha(TNF-alpha) were measured using ELISA kits in premature infants(n=60) who were admitted to St. Benedict Hospital from September 2001 to June 2003. Retrospective study was done by review of medical records. RESULTS: Cord blood levels of IL-1beta, IL-6 and TNF-alpha in the cerebral palsy group were higher, especially IL-6 but were not significant, compared with the control group. Cord blood levels of IL-6 in the cerebral palsy without asphyxia, sepsis, PROM, RDS and pneumonia were significantly different, compared with the control group. CONCLUSION: Cord blood levels of IL-1beta, IL-6 and TNF-alpha in the cerebral palsy group were increased, but concentrations of IL-6 increased significantly. Cord blood levels of IL-6 may be a useful value to predict the development of cerebral palsy, because they are related to IL-6 rather than to TNF-alpha & IL-1beta in this study.


Asunto(s)
Humanos , Recién Nacido , Asfixia , Parálisis Cerebral , Citocinas , Ensayo de Inmunoadsorción Enzimática , Sangre Fetal , Recien Nacido Prematuro , Interleucina-6 , Registros Médicos , Necrosis , Parálisis , Plasma , Neumonía , Estudios Retrospectivos , Sepsis , Factor de Necrosis Tumoral alfa
15.
Journal of the Korean Pediatric Society ; : 673-678, 2002.
Artículo en Coreano | WPRIM | ID: wpr-223340

RESUMEN

Mycoplasma pneumoniae is the most common pathogen of the respiratory tract among school- aged children and young adults. The incidence of CNS complication is reported as 0.1-7% of Mycoplasma pneumoniae infections. We experienced a case of cerebral infarction complicated by Mycoplasma pneumoniae, and reviewed the literature about the CNS complication of Mycoplasma pneumoniae infection.


Asunto(s)
Niño , Humanos , Adulto Joven , Infarto Cerebral , Incidencia , Mycoplasma pneumoniae , Mycoplasma , Neumonía , Neumonía por Mycoplasma , Sistema Respiratorio
16.
Journal of the Korean Pediatric Society ; : 512-518, 2002.
Artículo en Coreano | WPRIM | ID: wpr-150332

RESUMEN

PURPOSE: Cerebral palsies are the most common and severe motor disabilities in childhood. There is currently increased interest in their occurrence and patterns of likely cause for a variety of reasons. Therefore, a retrospective study was carried out to understand the clinical features of cerebral palsy. METHODS: A retrospective chart review was conducted of all children with cerebral palsy who were diagnosed at St. Benedict Hospital between March 1999 and March 2001. RESULTS: Cerebral palsy patients were classified into 6 major groups. Of six groups, spastic diplegia is the most common type of cerebral palsy(55.3%). The risk factors of cerebral palsy were placenta previa(1 case), placenta abruption(1 case), cytomegalovirus infection(1 case), prematurity (53 cases), neonatal asphyxia(12 cases), dystocia(2 cases), breech delivery(1 case), multiple birth(5 cases), head trauma(3 cases), meningitis(2 cases) and unknown(26 cases). Among the 59 in the preterm group, 37 patients showed MR or CT images of periventricular leukomalacia. Among the 44 in the term group, 15 patients showed MR or CT images of atrophy. Among 103 patients, 29 patients(28.2%) had a seizure disorder. CONCLUSION: It is very importent to understand the clinical features and risk factors of cerebral palsy for physicians to diagnose and manage cerebral palsy patient.


Asunto(s)
Niño , Humanos , Recién Nacido , Atrofia , Parálisis Cerebral , Citomegalovirus , Epilepsia , Cabeza , Leucomalacia Periventricular , Parálisis , Placenta , Estudios Retrospectivos , Factores de Riesgo
17.
Journal of the Korean Pediatric Society ; : 1263-1272, 2002.
Artículo en Coreano | WPRIM | ID: wpr-77176

RESUMEN

PURPOSE: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. METHODS: Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. RESULTS: The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. CONCLUSION: MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.


Asunto(s)
Femenino , Humanos , Codón sin Sentido , Desaceleración , Diagnóstico , ADN , Exones , Apraxia de la Marcha , Mano , Cabeza , Parto , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Síndrome de Rett , Convulsiones , Análisis de Secuencia de ADN , Temblor
18.
Journal of the Korean Pediatric Society ; : 741-751, 2001.
Artículo en Coreano | WPRIM | ID: wpr-32355

RESUMEN

PURPOSE: Hepatitis B virus(HBV) with various mutations has been reported. The aims of this study were to investigate the frequency and manifestation of HBV pre-S/S mutations in children with chronic hepatitis B infection. METHODS: Sera from 17 children with chronic hepatitis B infection were analyzed by direct sequencing of polymerase chain reaction amplification of HBV DNA. Results: Seventeen cases of adr type were analyzed. The deletions in HBV pre-S region were observed in 3(17.6%) of 17 cases. Of 3 deleted cases, 2 had an in-phase deletion in the pre-S1 region spanning 18 bp. Another case had a 18 bp and 3 bp deletions in the pre-S1 region. Many point mutations in HBV pre-S region were detected in all cases and these mutations were observed more frequently in the pre-S2 region than the pre-S1 region. Six point mutations in the pre-S1 region were observed. Eight point mutations in pre-S2 region were observed. Point mutations in the S region were detected in 14(82.4%) of 17 cases. Among these, mutations of the "a" determinant were detected in 4(23.5%) of 17 cases. Mutations at codon 130 and at codon 146 were noted in 2 cases. Combined mutations at codon 124, 126, 146 and at 130, 131, 136, 146 were noted in the other 2 cases. Mutations except "a" determinant region included at codon 3, 29, 73, 120, 184, 214, 226, 227. CONCLUSION: These observations suggest that deletion and point mutations in HBV pre-S1, pre- S2 regions and point mutations in HBV S region are frequent in the children with chronic hepatitis B infection.


Asunto(s)
Niño , Humanos , Codón , ADN , Virus de la Hepatitis B , Hepatitis B , Hepatitis B Crónica , Hepatitis , Hepatitis Crónica , Mutación Puntual , Reacción en Cadena de la Polimerasa
19.
Journal of the Korean Pediatric Society ; : 792-797, 2000.
Artículo en Coreano | WPRIM | ID: wpr-145278

RESUMEN

PURPOSE: The aim of the present study was to investigate the effect of single dose imipramine on nocturnal urine output in patients with nocturnal enuresis. METHODS:A total of 6 monosymptomatic enuretic patients of more than 5 years of age were enrolled in this study. We measured nocturnal urine output, urine osrnolality, creatinine clearance, osmolal clearance, excretion rate of solutes, fractional excretion of sodium and potassium, and plasma vasopressin with and without a single oral dose of imipramine(lmg/kg of body weight) at 8 p.m. RESULTS: The administration of imipramine was followed by a significant decrease in noctumal urine output(P=0.02). Urine osmolality was not significantly increased(P>0.05), but osmolal clearance was significantly decreased during imipramine medication(P=0.03). Urinary excretion rate of sodium and potassium showed a statistically insignificant trend toward lower values during imipramine administration in nocturnal enuretics. Fractional urinary excretion of sodium and potassium was significantly decreased during imipramine medication(P<0.05). There was no significant difference in plasma vasopressin level and creatinine clearance in nocturnal enuretics after imipramine. CONCLUSION: Imipramine has a vasopressin independent antidiuretic effect in patients with nocturnal enuresis. The antidiuretic effect of imipramine can be attributed prirnarily to increased a-adrenergic stimulation in the proximal tubules with secondary increased urea and water reabsorption more distally in the nephron. (J Korean Pediatr Soc 2000;43:792 - 797)


Asunto(s)
Humanos , Fármacos Antidiuréticos , Creatinina , Enuresis , Imipramina , Nefronas , Enuresis Nocturna , Concentración Osmolar , Plasma , Potasio , Sodio , Urea , Vasopresinas
20.
Journal of the Korean Child Neurology Society ; (4): 214-219, 1999.
Artículo en Coreano | WPRIM | ID: wpr-185451

RESUMEN

PURPOSE: A febrile convulsion is a common event during childhood, its pathogenesis is not clear. But there are some hypotheses including electrolyte imbalance, neurotransmitter and metabolic change. Hyponatremia has been thought to decrease the threshold for febrile convulsion and low cerebrospinal zinc level induced by fever or infections causes low cerebrospinal gamma-aminobutyric acid(GABA) which is a major inhibitory neurotransmitter. We therefore carried out a prospective study to investigate whether there is an association with serum sodium levels, CSF zinc concentration and febrile convulsions. METHODS: Blood and CSF samples for sodium and zinc were taken from 37 children at Pusan Saint Benedict Hospital due to febrile illness from March 1998 to December 1998. They were divided into three groups: 11 with fever but without convulsions(Group I), 15 with aseptic(viral) meningitis(Group II), and 11 with febrile convulsions(Group III). The results were analyzed by Wilcoxon 2 Sample Test. RESULTS: The means of serum sodium, Zn level and CSF Na, Zn level in the febrile convulsion group were not significantly lower than in other groups(for serum Na : group I 143.09+/-2.84mmol/L, group II 141.60+/-2.49mmol/L, group III 142.54+/-1.80mmol/L; for CSF Na : group I 138.72+/-5.53mmol/L, group II 139.64+/-4.64mmol/L, group III 138.82+/-2.25mmol/L; for serum Zn : group I 90.38+/-9.09micro gram/L, group II 90.28+/-13.64micro gram/L, group III 97.16+/-14.54micro gram/L; for CSF Zn : group I 41.61+/-13.30micro gram/L, group II 45.80+/-12.66micro gram/L, group III 41.04+/-11.17micro gram/L). There was no statistically significant difference in serum sodium and CSF zinc between the three groups of children. CONCLUSION: There is no evidence in this study, that hyponatremia may increase the susceptability to febrile convulsion or that zinc deprivation may play a role in the pathogenesis of febrile convulsion in previous study. So, more study of pathophysiology of febrile convulsion is needed.


Asunto(s)
Niño , Humanos , Fiebre , Hiponatremia , Neurotransmisores , Estudios Prospectivos , Santos , Convulsiones Febriles , Sodio , Zinc
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