Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Development of the Parental Questionnaire for Cerebral Visual Impairment in Children Younger than 72 Months

Background@#and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. @*Methods@#The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. @*Results@#The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. @*Conclusions@#The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Effect of Media Exposure to Language Development / 대한소아신경학회지

PURPOSE: This study was performed in order to evaluate the association of media exposure with language developmental delay. METHODS: The sample consisted of 40 patients with language developmental delay who visited the pediatric clinic of Dongtan Sacred Heart Hospital from January 2013 to July 2014. The 66 patients, who visited our clinic without language developmental delay, were included in the control group. The data were collected by using self-report questionnaires (media exposure time, contents, background media or foreground media, age of first exposure, and media exposure with or without parents), and analyzed through a t-test, Chi-square test, bivariate logistic regression model by using the SPSS-Version 21.0. RESULTS: The mean age of the language delay group was 33.6±10 months, while the male-to-female ratio was 2.6:1 in this study. In regard to media exposure time, 63% of the language delay patients were exposed to media for more than 2 hours a day, as compared to 16% of the control group (P<0.001). Among the language delay group, 90% of the patients were under 24 months old at the time of exposure to media, as compared to 58% of the control group (P<0.001). In addition, 79% of the language delay group watched media without anyone, as compared to 41% of the control group (P=0.001). CONCLUSION: Risk factors of language developmental delay were exposure to media more than 2 hours a day and toddlers under 24 months old at the time of exposure, as compared to the control group. In conclusion, longer exposure and earlier exposure to media would be risk factors in language developmental delay, and watching media alone may negatively influence the language development.

Effect of Media Exposure to Language Development / 대한소아신경학회지

PURPOSE: This study was performed in order to evaluate the association of media exposure with language developmental delay. METHODS: The sample consisted of 40 patients with language developmental delay who visited the pediatric clinic of Dongtan Sacred Heart Hospital from January 2013 to July 2014. The 66 patients, who visited our clinic without language developmental delay, were included in the control group. The data were collected by using self-report questionnaires (media exposure time, contents, background media or foreground media, age of first exposure, and media exposure with or without parents), and analyzed through a t-test, Chi-square test, bivariate logistic regression model by using the SPSS-Version 21.0. RESULTS: The mean age of the language delay group was 33.6±10 months, while the male-to-female ratio was 2.6:1 in this study. In regard to media exposure time, 63% of the language delay patients were exposed to media for more than 2 hours a day, as compared to 16% of the control group (P<0.001). Among the language delay group, 90% of the patients were under 24 months old at the time of exposure to media, as compared to 58% of the control group (P<0.001). In addition, 79% of the language delay group watched media without anyone, as compared to 41% of the control group (P=0.001). CONCLUSION: Risk factors of language developmental delay were exposure to media more than 2 hours a day and toddlers under 24 months old at the time of exposure, as compared to the control group. In conclusion, longer exposure and earlier exposure to media would be risk factors in language developmental delay, and watching media alone may negatively influence the language development.

Recent update of autism spectrum disorders / 소아과

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

Clinical and Laboratory Features of Severe Neutropenia Developed in Childhood / 임상소아혈액종양

BACKGROUND: Neutropenia is not uncommon in children. We performed this study to investigate the etiology, clinical course and laboratory characteristics for prediction of recovery in children with severe neutropenia.METHODS: In this study, we studied the clinical course and hematological features of 107 patients with severe neutropenia who were diagnosed and treated at the Department of Pediatrics, The Catholic University of Korea from April 2009 to July 2014. Patients with hematologic disorders and malignant disease were excluded. Chronic severe neutropenia (CSN) was defined as an absolute neutrophil count of 0.5x109/L or less for at least 3 months. Acute severe neutropenia (ASN) were defined who recovered within 3 months from diagnosis.RESULTS: Among 107 patients, 72 patients showed ASN and 35 patients were CSN. Median age of ASN (15.2 months) was higher than that of CSN (10.7 months). The median duration of recovery from neutropenia was 7 days (range: 2-35) in ASN. ASN was commonly related to infectious diseases and 24 cases (33.3%) had documented etiologic agents. Median duration of recovery from neutropenia was 18 months in CSN. Three of 35 patients in CSN had ELANE gene mutation. The number of white blood cells, platelets, monocytes, and eosinophils were significantly higher in group of CSN compared with ASN (P<0.05).CONCLUSION: We confirmed the great etiological heterogeneity of severe neutropenia in this study. The kinetics of recovery from neutropenia was different between the ASN and CSN group and the complete blood counts may be useful indices for discriminating ASN from CSN.

Clinical and Laboratory Features of Severe Neutropenia Developed in Childhood / 임상소아혈액종양

BACKGROUND: Neutropenia is not uncommon in children. We performed this study to investigate the etiology, clinical course and laboratory characteristics for prediction of recovery in children with severe neutropenia. METHODS: In this study, we studied the clinical course and hematological features of 107 patients with severe neutropenia who were diagnosed and treated at the Department of Pediatrics, The Catholic University of Korea from April 2009 to July 2014. Patients with hematologic disorders and malignant disease were excluded. Chronic severe neutropenia (CSN) was defined as an absolute neutrophil count of 0.5x109/L or less for at least 3 months. Acute severe neutropenia (ASN) were defined who recovered within 3 months from diagnosis. RESULTS: Among 107 patients, 72 patients showed ASN and 35 patients were CSN. Median age of ASN (15.2 months) was higher than that of CSN (10.7 months). The median duration of recovery from neutropenia was 7 days (range: 2-35) in ASN. ASN was commonly related to infectious diseases and 24 cases (33.3%) had documented etiologic agents. Median duration of recovery from neutropenia was 18 months in CSN. Three of 35 patients in CSN had ELANE gene mutation. The number of white blood cells, platelets, monocytes, and eosinophils were significantly higher in group of CSN compared with ASN (P<0.05). CONCLUSION: We confirmed the great etiological heterogeneity of severe neutropenia in this study. The kinetics of recovery from neutropenia was different between the ASN and CSN group and the complete blood counts may be useful indices for discriminating ASN from CSN.

Psychologic Characteristics in Caregivers of Children with Attention Deficit Hyperactivity Disorder / 대한소아신경학회지

PURPOSE: ADHD (Attention Deficit Hyperactivity Disorder) is a neurodevelopmental disorder with three characteristics, such as impulsivity, inattention, and hyperactivity symptoms. This is a common disease that the prevalence reaches 4-7% of all children. There are a variety of hypothesis in the pathogenic mechanisms and etiology. Parental psychopathology influences directly and indirectly on the occurrence of ADHD in children. The aim of this study was to evaluate the clinical and psychological characteristics of caregiver of child with ADHD using the MMPI (Minnesota Multiphasic Personality Inventory)-2. METHODS: The subjects consisted of 35 caregivers of patients with ADHD and 34 caregivers of children without neuropsychiatric disorders who visited to the pediatric neurology clinic of Kangnam sacred heart hospital from January 2009 to June 2011. We diagnosed ADHD according to DSM(Diagnostic and Statistical Manual of Mental Disorder)-IV criteria. We compared the psychologic characteristics between ADHD group and control group using T score of MMPI-2. RESULTS: MMPI T scores of caregivers of children with ADHD were significantly higher on the depression(D), psychasthenia(Pt), schizophrenia(Sc), social introversion (Si) scales than control group and most of scales were significantly higher in restructured clinical (RC) scale and personality psychopathology five (PSY-5) scales. CONCLUSION: The results suggested that psychopathology of caregivers might induce ADHD in the children. On the contrary, ADHD symptom of children might be associated with occurrence of psychopathology in the cargiver. In order to proper treatment of ADHD patient, we need to psychologic evaluation in the caregivers of patients with ADHD.

Development of Brugada Syndrome Following Photodynamic Therapy in a Patient with Cholangiocarcinoma

Brugada syndrome can be unmasked by several conditions including a febrile state, marked leukocytosis, and electrolyte disturbances. Herein, we describe a 62-year-old man with cholangiocarcinoma in the first reported case of Brugada syndrome onset following photodynamic therapy.

Clinical Characteristics and Psychological Analysis in Children with Tic Disorder / 대한소아신경학회지

PURPOSE: Tic disorder is a neurodevelopmental disorder which begins in early childhood and continues into adolescence and adults. Tic disorder affects 1-2% of the population. In order to make a correct diagnosis and treatment of tic disorder, the clinical psychological analysis is needed because children with tic disorder tend to have higher rates of emotional and behavioral difficulties than those of the general population. The aim of this study was to evaluate the clinical and psychological characteristics of child with tic disorder. METHODS: The sample consisted of 69 patients with tic disorder who visited to the pediatric neurology clinic of Kangnam sacred heart hospital from January 2007 to June 2010. Fifty patients who visited our clinic without tic disorder were included in the control group. Patients were classified as the DSM-IV, Tourette's disorder, chronic motor or vocal tic disorder, transient tic disorder and tic disorder not otherwise specified. Korean child behavior checklist (K-CBCL), K-WISC-III, ADS, K-ARS was conducted in the tic disorder patients and T score of K-CBCL was compared with the control group. RESULTS: Male to female ratio was 2.5:1 in the study group and the mean age was 9.5+/-3.2 years old. The symptom period was 16.7+/-17.2 months at their first visit. Twelve subjects (18%) presented with Tourette syndrome, 14 subjects (20%) had multiple chronic motor or phonic tic disorder, 20 subjects (29%) had transient tic disorder and 23 subjects (33%) had tic disorder not otherwise specified. The Medications were given in 26 patients and risperidone was the primary drug for most of them. The mean T scores of K-CBCL were 55.5+/-6.1 for attention scale, 56.9+/-6.9 for anxiety-depression scale, 56.5+/-7.4 for withdrawn scale, 52.0+/-3.4 for emotional lability scale. All of them were higher than control group (P<0.05). CONCLUSION: In order to make a correct diagnosis and treatment of tic disorder, the clinical psychological assessment is mandatory due to their higher rates of emotional and behavioral difficulties.

A case of idiopathic isolated hypoglossal nerve palsy in a Korean child / 소아과

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.

Association of Carotid Atherosclerosis and Arterial Stiffness with Obesity

OBJECTIVE: Few studies related to carotid intima media thickness and arterial pulse wave velocity in obese people were reported in Korea. We evaluated carotid intima media thickness (IMT) and arterial pulse wave velocity (PWV) according to existence of obesity. METHODS: From January 2009 to March 2010 at Soonchunhyang University Seoul Hospital, we enrolled 118 healthy adults (male: 67, female: 51) without past history of hypertension, diabetes, hypercholesterolemia, heart disease and renal failure. We devided the population into two groups according to body mass index (BMI, kg/m2); non-obese (n=68, 18.5 to 25 kg/m2) group, obese (n=50, > or =25 kg/m2) group. We measured carotid IMT and PWV of aorta as well as arteries of upper and lower extremities. RESULTS: Carotid IMT showed statistically significant increase in obese group (0.54+/-0.11 mm vs. 0.58+/-0.10 mm; P=0.041). IMT is independently and significantly related to age and systolic blood pressure. There is no statistical difference of the PWVs of aorta, upper extremity and lower extremity in obese group compared with non-obese group. BMI showed significant correlations with systolic blood pressure, diastolic blood pressure and IMT. CONCLUSION: Carotid IMT that was mainly determined by age and systolic blood pressure significantly increased in obese group compared to non-obese group, while neither aortic PWV nor arterial PWVs of upper and lower extremities showed significant difference between the two groups.

Current Status of ADHD Treatment in Children with Epilepsy: A Retrospective, Multicenter, Cross Sectional Analysis in Korea / 대한소아신경학회지

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.

The Efficacy of ADHD Rating Scale and Continuous Performance Tests in Diagnosis and Treatment of Attention Deficit Hyperactivity Disorder / 대한소아신경학회지

PURPOSE:Attention deficit hyperactivity disorder(ADHD) is a neurodevelopmental disorder characterized by symptoms of inattention, impulsivity and/or hyperactivity with an onset during childhood. There are no specific diagnostic and evaluated tools. The aim of this study was to determine clinical availability of adjunctive tests for diagnosis and measure of the efficacy of treatment in ADHD patients. METHODS:The study group consisted of 41 patients under 15 years of age who visited Kangnam Sacred Heart Hospital and Kangdong Sacred Heart Hospital between January 2007 and June 2008 for evaluation of ADHD. Diagnosis was made according to the diagnostic and statistical manual for mental disorder-IV(DSM-IV) with history, physical examination, ADHD rating scale, and attention deficit hyperactivity disorder diagnostic system(ADS). After psychostimulant treatment, patients were reevaluated by previous diagnostic tools and their results were analysed by SPSS version 16.0. RESULTS:The mean age was 8.44+/-2.49 years old, male to female ratio 4.13:1(33:8). Forty one ADHD patients were subdivided into predominantly inattentive type 17(41.5%), predominantly hyperactive-impulsive type 3(7.3%) and combined type 21(51.2%). In patients, concordance rates of adjunctive tests with DSM-IV diagnostic criteria were 74.29% in Korean ADHD Rating scale(K-ARS), 59.09% in abbreviated Conners' rating scale(ACRS) and 92.68 % in ADS with DSM-IV diagnostic criteria. There were significant differences in the ADS results between before and after psychostimulant treatment. CONCLUSION:Because the concordance rates and efficacy of ADS were higher than K- ARS and ACRS in ADHD patients, it suggests that ADS is a useful method to ADHD diagnosis and treatment.

A Case Report of Recurrent Subacute Stent Thrombosis After Repetitive Percutaneous Coronary Interventions

Stent thrombosis (ST) is one of the major complications that occur in percutaneous coronary interventions (PCIs) with stents. Various factors have been attributed to the development of ST, and several strategies have been recommended for its management. We report the case of a patient suffering from recurrent subacute STs after recurrent PCIs. The patient was treated by coronary artery bypass graft (CABG).

Comparison of Clinical Outcomes and Treatment Methods Applying International Guideline in Status Epilepticus / 대한소아신경학회지

PURPOSE: Status epilepticus(SE) is a common neurological emergency in childhood. SE is defined as a seizure or series of seizures without recovery of consciousness between seizures lasting at least 30 minutes. We investigated treatment modalities and clinical courses of patients with SE and tried to find out the differences between international standards. METHODS: We reviewed the medical records of 36 cases of SE who visited our hospitals from January 2002 to December 2007. We analyzed age, duration of seizures before and after arrival at hospital, time taken for administration of antiepileptic drugs(AED) and compared them with APLS guideline(3rd edition). RESULTS: There were 32 cases in which lorazepam was used as the first AED and the mean time needed for administration was 4.6+/-6.7minutes. Thirty cases needed a second dose of lorazepam and the mean time needed for administration was 10.2+/-8.2 minutes. Seven patients(21.1%) received inappropriate treatment at the first step and 25 patients(83.3%) and 21 patients(84.0%) at the second and the third step respectively. There were 15 cases in which phenytoin or phenobarbital was used as the second line AED and the mean time needed for administration was 25.8+/-61.8 minutes. CONCLUSION: Early treatment of SE is important in reducing mortality and morbidity associated with SE. In this study we found that a large number of patients were not treated according to the international guideline. Further study is needed to understand the reasons for such differences.

Comparison of neonatal outcomes between the spontaneous and in vitro fertilization twin pregnancies / 소아과

PURPOSE: There is a dominant opinion that in vitro fertilization (IVF) leads to an increased incidence of twins, low birth weight (LBW) infants, prematurity and mortality. On the other hand, technical development of IVF and improvement of neonatal intensive care have increased the survival rate of neonates. The purpose of this study was to verify the tendency by comparing the clinical aspects of IVF and spontaneously conceived twins, and to establish methods to increase the survival rate of neonates after IVF. METHODS: Retrospective reviews were performed on all twin infants who were admitted to the nursery and NICU at Kangnam Sacred Heart Hospital, Hallym University from January 1, 2000 to December 31, 2006. Medical records of IVF twins (study group, n=92) and spontaneously conceived twins (control group, n=265) were analyzed and compared. Neonatal outcomes and complications, as well as obstetric outcomes, were analyzed and compared. RESULTS: Mean gestational age and birth weight of the study group (34.6+/-3.5 weeks, 2,203.9+/-617.2 g) were considerably lower than those of the control group (36.3+/-2.4 weeks, 2,367.0+/-517.9 g). The frequency of prematurity less than 37 weeks (68.5% vs 51.3%) and extremely LBW (15.2% vs 6.4%) were also significantly higher in the study group. Other neonatal outcomes were all insignificant. The obstetric characteristics, maternal age (32.6+/-3.3 years vs 30.3+/-3.9 years) and the frequency of cesarean delivery(95.7% vs 79.9%) were significantly higher in the study group. Other obstetric outcomes were insignificant except for the frequency of incompetent internal os of cervix (36.2% vs 3.6%) and cerclage operation (38.3% vs 4.3%). CONCLUSION: Based on the above results, clinical outcomes of twin infants will be further improved by careful attention and thorough antenatal care of the IVF twins.

Comparison of the ambulatory blood pressure with the clinical blood pressure and electrocardiographic left ventricular hypertrophy / 대한내과학회지

BACKGROUND: This study compared the results of 24 hour ambulatory blood pressure monitoring with the clinical blood pressure measurements, and we investigated the relationship of the blood pressure measurement and left ventricular hypertrophy, as determined by routine 12 lead electrocardiography. METHODS: We studied 204 healthy adults with no prior history of heart disease or antihypertensive medication. The clinic blood pressure was measured 3 times and the average was taken. We compared the clinic blood pressure with the daytime blood pressure of the 24 hour ambulatory blood pressure monitoring, and we compared the blood pressure with the sum of the voltage of the S wave on V1 and the R wave on V5. RESULTS: The average of the daytime ambulatory blood pressure of all the patients was 135.33+/-13.73 mmHg for the systolic pressure and 86.55+/-10.14 mmHg for the diastolic pressure. The average of the clinic blood pressure measurement was 140.10+/-17.41 mmHg for the systolic pressure and 88.84+/-10.14 mmHg for the diastolic pressure. The clinic blood pressure averaged higher than the daytime ambulatory blood pressure by 5 mmHg on the systolic pressure and 2 mmHg on the diastolic pressure (p<0.001). The normal ambulatory blood pressure limits were estimated as those that best correlated with 140/90 mmHg at the clinic. The estimated value was 135/87 mmHg for the daytime ambulatory blood pressure (p+/-0.001). The incidence of white coat hypertension was 10.8%. The sum of the voltage on electrocardiography showed a positive linear relationship with all the blood pressure measurements. The daytime systolic blood pressure showed the strongest correlation with the 24 hour ambulatory blood pressure monitoring (r=0.283, p+/-0.001). CONCLUSIONS: We found a linear relation and we analyzed the differences between the clinical and 24 hour ambulatory blood pressure. A daytime ambulatory blood pressure value of 135/87 mmHg was a suitable upper normal limit for the corresponding cutoff value of the clinic blood pressure. Left ventricular hypertrophy showed the strongest relationship with the daytime systolic blood pressure among the results of the 24 hour ambulatory blood pressure monitoring.

Glucose Transporter Type 1 Deficiency Syndrome / 대한소아신경학회지

D-glucose is an essential fuel for metabolism in mammalian cells and the predominant fuel source for the brain. Transport of glucose across tissue barriers is mediated by stereospecific transporter proteins. Glut-1 is a major glucose transporter expressed on vascular endothelial cells comprising the blood brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood brain barrier results in Glut-1 deficiency syndrome(DS). It is caused by haploinsufficiency of the blood brain barrier hexose carrier. Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS. It is characterized by infantile seizures refractory to anticonvulsants, developmental delay, acquired microcephaly, spasticity, ataxia, opsoclonus and other paroxysmal neurological phenomena, often occurring prior to meals. The diagnosis of Glut-1 DS is established in neurologically impaired patients with reduced cerebrospinal glucose concentration(hypoglycorrhachia) and lactate concentration in the absence of hypoglycemia. Decreased 3-O-methyl-D-glucose uptake in erythrocytes also supports the diagnosis of Glut-1 DS. Several treatment strategies have been pursued, none optimal, as it relates to the developmental encephalopahty associated with this clinical syndrome. Ketogenic diet has been effective in controlling seizures but has had little measurable effects on the associated cognitive impairments and behavioral disturbance. Current treatment is inadequate, and future studies should be directed at the mechanisms designed to upreglulate GLUT-1 expression, thereby increasing residual Glut-1 activity to 75 to 100%.

Proteomic Analysis of the Serum in Patients with Acute Coronary Syndrome

BACKGROUND AND OBJECTIVES: Proteomics is a new technology that allows the detection and identification of several proteins at a given time in a sample. There are currently few reports concerned with the proteomic study of serum from patients during acute coronary syndrome. We performed proteomics to analyze the modifications in the serum protein map of patients with acute coronary syndrome (ACS). SUBJECTS AND METHODS: We investigated the serum from 12 patients who suffered with acute myocardial infarction (AMI), 12 patients with unstable angina (UA) and 13 age- and sex-matched patients as the control group. Two-dimensional electrophoresis, Coumassie staining and image analysis were performed. Mass spectrometry was performed to identify the selected spots. RESULTS: For the two-dimensional electrophoresis with using a pH range of 3 to 10, two different areas within the serum protein map were observed, and this showed differences between the groups. In area 1, three fibrinogen gamma chain isoforms were identified. All of them were increased in the serum from the AMI and UA patients when compared with the control group. In area 2, four fibrinogen beta chain isoforms were identified. Three isoforms of them were increased in the serum from the AMI and UA patients. CONSLUSION: Three fibrinogen gamma chain isoforms were identified and they were increased in the serum from ACS patients. Four fibrinogen beta chain isoforms were identified and three isoforms of them were increased in the serum from ACS patients.