Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.
Kang, Jin Han;Kim, Jong Hyun;Hur, Jae Kyun;Woo, Koo
Pediatric Infection and Vaccine
/
v.7
no.1
/
pp.129-135
/
2000
Purpose : We previously reported the short-term immunogenecity and safety of 47 passaged Oka strain live attenuated varicella vaccine in healthy children in 1997. Now, we conducted this two-year follow-up study to confirm the maintenance of immunity, the occurrence of natural varicella infection and the activation of vaccine induced latent infection on the same vaccine. Methods : 99 children who had been immunized by 47 passaged Oka strain live attenuated varicella vaccine in 1997 were followed up by questionnaire, and 46 children out of study group were followed up serologically. They were asked to report any instance of varicella or herpes zoster since they had been immunized. If there was any evidence of varicella or herpes zoster, they should be clinically or serologically confirmed by doctor. Also, those patients' parents were asked to report any instance of varicella or herpes zoster in their family, playmate, kindergarten, school, or other settings. The immunity to VZV was confirmed by EIA and FAMA test. Results : 6 recipients developed breakthrough varicella after exposure to VZV in family, kindergarten and school during follow-up period. However, clinical features of those patients were very mild and self limited without therapy. And none of the recipients developed herpes zoster during this observation period. The results of EIA test showed that study subjects were all seropositive except one, and the antibody titers and GMT of FAMA test were seropositively maintained in all subjects. Statistically, the antibody titers of EIA and FAMA test confirmed two years after vaccination were higher than those results confirmed one month after vaccination. Conclusion : Our study results suggest that the immunity of 47 passaged Oka strain live attenuated varicella is well maintained until 2 years later after vaccination, and mild natural infection after exposure to VZV can be occurred with low rate. There were not developing zoster in study vaccine after vaccination for two-years.
Kim, Chang Hwi;Cha, Sung Ho;Shin, Son Moon;Kim, Chun Soo;Choi, Young Youn;Hong, Young Jin;Chey, Myoung Jae;Kim, Kwang Nam;Hur, Jae Kyun;Jo, Dae Sun;Kim, Sung Shin;Lee, Sang Lak;Song, Eun Song;Ramakrishnan, Gunasekaran;Ok, Jin Ju;Van Der Meeren, Olivier;Bock, Hans L.;Kim, Jung Soo
Pediatric Infection and Vaccine
/
v.17
no.2
/
pp.156-168
/
2010
Purpose : To compare immunogenicity and reactogenicity of a combined diphtheria-tetanus-acellular pertussis-inactivated poliovirus vaccine (DTPa-IPV, $Infanrix^{TM}$ IPV, GlaxoSmithKline Biologicals) with co-administration of commercially available DTPa and IPV vaccines at separate injection sites (DTPa+IPV). Methods : A total of 458 infants aged 8-12 weeks were randomized to receive three-ose primary vaccination at 2, 4 and 6 months with DTPa-IPV or DTPa+IPV. Blood samples were collected pre and post vaccination for measurement of immune responses. Reactogenicity was assessed following each dose using diary cards. Results : One month post-dose 3, seroprotection rates for anti-diphtheria, anti-tetanus and anti-poliovirus types 1, 2 and 3 were ${\geq}99.5%$ and vaccine response rates to pertussis antigens were at least 98.6% in both DTPa-IPV and DTPa + IPV groups. Non-inferiority between the groups was demonstrated based on pre-defined statistical criteria. Incidences of both local and systemic symptoms were within the same range across both groups with grade 3 symptoms reported following no more than 4.3% of DTPa-IPV doses and 4.5% of DTPa + IPV doses. Two serious adverse events (both pyrexia) after DTPa-IPV administration were considered vaccine-related. Both infants recovered fully. Conclusion : Combined DTPa-IPV vaccine was immunogenic and well tolerated when used as a three-dose primary vaccination course in Korean infants. DTPa-IPV could be incorporated into the Korean vaccination schedule, reducing the number of injections required to complete primary immunization.
Yoon, Seo Hee;Lee, Hyo Yeon;Kim, Han Wool;Kong, Kyoung Ae;Kim, Kyung-Hyo
Pediatric Infection and Vaccine
/
v.20
no.3
/
pp.147-160
/
2013
Purpose: Although the overall incidence of hepatitis A in Korea has been decreasing recently, the adolescents born before the introduction of the hepatitis A vaccine remain to be highly vulnerable to outbreak. This study examines the unvaccinated adolescents' and their parents' knowledge and health beliefs toward hepatitis A vaccination. Methods: Healthy adolescents aged 13-19 years old who had no previous history of hepatitis A vaccine and hepatitis A infection, and their parents or legal guardians were the subjects of the study. The survey was conducted using a structured questionnaire based on the Health Belief Model, and examined the subjects' demographics, knowledge, and health beliefs (i.e., perceived susceptibility, severity, benefits, and barriers). Results: We included 157 adolescents and their parents/guardians (mean age: $16.0{\pm}1.6$ and $45.6{\pm}4.7$ years, respectively). The average knowledge item score for adolescents and parents was $6.4{\pm}3.7$ and $7.3{\pm}3.4$ (out of 18), respectively. Similarly, average Health Belief Model item scores were: susceptibility, $5.6{\pm}1.6$ and $5.9{\pm}1.7$ (range: 2-10); severity, $16.3{\pm}4.1$ and $18.3{\pm}3.6$ (range:5-25); benefits, $19.7{\pm}3.3$ and $20.6{\pm}2.1$ (range:5-25); and barriers, $41.3{\pm}8.9$ and $39.0{\pm}9.1$ (range:7-85). The major reason for not undergoing hepatitis A vaccination was lack of knowledge about its importance. Conclusions: Refresher health lectures about hepatitis A and the vaccine are needed by both the adolescents and their parents. Furthermore, the inclusion of hepatitis A vaccine in the national immunization program should be considered to reduce the risk of hepatitis A outbreak and to raise the vaccination coverage among the adolescents in Korea.
This study was carried out not only to determine blood alcohol levels by time but also to examine the changes of working ability and reaction speed after ingestion of alcohol. Fifteen healthy students aged from 21 to 27 volunteered as subjects for this study, Liguor (Sojoo) in concentration of 25% ethyl alcohol was administrated with the amount of 1ml of ethyl alcohol per kg of body weight to the subjects. The concentration of alcohol in the blood were determined by the 'Alcohol Sensor 100' at 5, 30, 60 and 90 minutes after the administration of alcohol. Also, the choice reactiontest, the eye-hand coordination test and kraepelin test were examined at the same time after checking of alcohol concentration in the blood. The results of this study can be summarized as follows. 1. Mean blood alcohol level changes resulting from administration of 1ml of ethyl alcohol per kg of body weight were $0.16%(160{\pm}57mg/100ml,\;0.10%(100{\pm}42mg/100ml),\;0.08%(80{\pm}36mg/100ml)\;and\;0.03%(30{\pm}24mg/100ml)$ at the 3, 30, 60 and 90 minutes after the administration respectively The peak in the concentration of blood alcohol was 5 miniutes after the ingestion according to alcohol examination by the respiration. 2. As for choice reaction test, reaction times became prolonged as blood alcohol levels increased. The reaction time showed a significant changes when the blood alcohol concentration reached 0.08% or more after alcohol ingestion. 3. In eye and hand coordination test, the accuracy of the performance became decreased as blood alcohol levels increased. The difference of accuracy of the test was significantly shown when alcohol levels in the blood reached 0.08% or more after alcohol intake. 4. As for kraepelin test, the abilities of calculation also became lowered as blood alcohol levels increased. The abilities of calculation differed signigicantly from control group when alchool levels of 0.08% and more.
For identifying the pathological findings in magnetic resonance images (MRIs), normal anatomical structures in MRIs should be identified in advance. For studying the anatomical structures in MRIs, a learning tool that includes the followings is necessary. First, MRIs of the entire body; second, horizontal, coronal, and sagittal MRIs; third, segmented images corresponding to the MRIs; fourth, three dimensional (3D) images of the anatomical structures in the MRIs; fifth, software incorporating the MRIs, segmented images, and 3D images. Such a learning tool, however, is hard to obtain. Therefore, in this research, such a learning tool which helps medical students and doctors study the normal anatomical structures in MRIs was made as follows. A healthy young Korean male adult with standard body shape was selected. Six hundred thirteen MRIs of the entire body were scanned (slice thickness 3 mm, interslice gap 0 mm, field of view 480 mm${\times}$480 mm, resolution 512${\times}$512, T1 weighted), and transferred to the personal computer. Sixty anatomical structures in the MRIs were segmented to make segmented images. Coronal, sagittal MRIs and coronal, sagittal segmented images were made. On the basis of the segmented images, forty-seven anatomical structures 3D images were made by manual surface reconstruction method. Software incorporating the MRIs, segmented images, and 3D images was composed. This learning tool that includes horizontal, coronal, sagittal MRIs of the entire body, corresponding segmented images, 3D images of the anatomical structures in the MRIs, and software is expected to help medical students and doctors study the normal anatomical structures in MRIs. This learning tool will be presented worldwide through Internet or CD titles.
Purpose : Recent development of diffusion tensor imaging enables the evaluation of the microstructural characteristics of the brain white matter. However, optimal imaging parameters for diffusion tensor imaging, particularly concerning the number of diffusion gradient direction, have not been studied thoroughly yet. The purpose of this study was to evaluate the influence of the number of diffusion gradient direction on the fiber tracking of the white matter. Materials and methods : 13 healthy volunteers (ten men and three women, mean age 30 years, age range 23-37 years) were included in this study. Diffusion tensor imaging was performed with different numbers of diffusion gradient direction as 6, 15, and 32, keeping the other imaging parameters constant. The imaging field ranged from 1 cm below the pons to 2-3 cm above the lateral ventricle, parallel to the anterior commissure-posterior commissure line. FA (fractional anisotropy) maps were created via image postprocessing, and then FA and its standard deviation were calculated in the genu and the splenium of the corpus callosum on each of FA maps. Fiber tracking of the corticospinal tract in the brain was performed and the number of the reconstructed fibers of the tract was measured. FA, standard deviation of FA and the number of the reconstructed fibers were compared statistically between the different diffusion gradient directions. Results : FA is not statistically significantly different between the different diffusion gradient directions. By increasing the number of diffusion gradient direction, standard deviation of FA decreased significantly, and the number of the reconstructed fibers increased significantly. Conclusion : The higher number of diffusion gradient direction provided better quality of fiber tracking.
Purpose: The purpose of this study was to evaluate alterations of regional cerebral blood flow (CBF) and cerebrovascular reserve (CVR), and correlation between these alternations and cognitive dysfunction in patients with chronic traumatic brain injury (TBI) and normal brain MRI findings. Materials and Methods: Thirty TBI patients and 19 healthy volunteers underwent rest/acetazolamide brain SPECT using Tc-99m HMPAO. Korean-Wechsler Adult Intelligence scale test was also performed in the patient group. Statistical analysis was performed with statistical parametric mapping software (SPM'97) Results: CBF was diminished in the left hemisphere including Wernicke's area in all patients with lower verbal scale scores. In addition, a reduction in CBF in the right frontal, temporal and parietal cortices was related with depressed scores in information, digital span, arithmetic and similarities. In patients with lower performance scale scores, CBF was mainly diminished in the right hemisphere including superior temporal and supramarginal gyri, premotor, primary somatomotor and a part of prefrontal cortices, left frontal lobe and supramarginal gyrus. CVR was diminished in sixty-four Brodmann's areas compared to control. A reduction in CVR was demonstrated bilaterally in the frontal and temporal lobes in patients with lower scores in both verbal and performance tests, and in addition, both inferior parietal and occipital lobes in information subset. Conclusion: Alterations of CBF and CVR were demonstrated in the symptomatic TBI patients with normal MRI finding. These alterations were correlated with the change of intelligence, of which the complex functions are subserved by multiple interconnected cortical structures.
Purpose : Cerebral blood flow (CBF) reactivity to acetazolamide (ACZ) is useful to select patients with hemodynamic failure. However, it is still a matter of speculation that varying degrees of regional CBF increases after ACZ administration represent the severity or stage of regional hemodynamic failure as assessed by positron emission tomography (PET). We studied to elucidate whether ACZ challenge $^{123}I-IMP$ brain single photon emission tomography (SPECT) can accurately grade the seventy of regional hemodynamic failure. Materials and Methods: Eighteen patients (M: 16, F: 2, average age: 61 years) with unilateral occlusive disease of the internal carotid artery or the trunk of the middle cerebral artery (MCA). Patients undewent $^{123}I-IMP$ brain SPECT study with acetazolamide challenge and PET study was carried out within 2 weeks before and after SPECT study. Five healthy volunteers with a mean age of 48 years (range: 28-73 yr, M: 3, F: 2) underwent PET studies to determine normal values. In SPECT study, an asymmetry index (Al)-the percentage of radioactivity of region of interest (ROI) in the occlusive cerebrovascular lesion to the contralateral homologous ROI-was used for numerical evaluation of relative $^{123}I-IMP$ distribution. In PET study, regional CBF, oxygen extraction fraction (OEF), cerebral metabolic rate of oxygen ($CMRO_2$) and cerebral blood volume (CBV) values were measured with $^{15}O-labeled$ gas inhalation method and the values were used for comparison with Al (Al during acetazolamide challenge-Al of basal study) on the SPECT study. ROls were classified by severity into three groups (normal, stage I and stage II). Results: Mean values of Al in areas with normal, stage I and stage II hemodynamic failure were $6.25{\pm}7.77%\;(n=107),\;-10.38{\pm}10.41%\:(n=117)\;and\;13.30{\pm}10.51%\;(n=140)$, respectively. Al significantly differed with each groups (p<0.05). Correlation between Al and CBF, OEF and CBV/CBF in hemisphere with occlusive cerebrovascular lesion was 0.20 (p<0.01), -0.28 (p<0.01) and -0.28 (p<0.01), respectively. Conclusion: We concluded that $^{123}I-IMP$ brain SPECT with acetazolamide challenge could determine the severity ad stage of regional hemodynamic failure as assessed by PET.
Purpose: The authors analyzed how the regional cerebral blood flow(rCBF) findings of patients with major depression differ from the normal control, and our results were compared to previous reports. Materials and Methods: Twelve patients fulfilling DSM-IV criteria for major depression who were off all psychotropic medications for > 4weeks(male: 7, female: 5, age range: $19{\sim}52$ years, average age: $29.3{\pm}9.9$ years) and 14 normal volunteers(male: 8, female: 6, age range: $19{\sim}53$ years, average age: $31.4{\pm}9.2$ years) were recruited. Images of brain perfusion SPECT were obtained using Tc-99m ECD and patterns of the rCBF were compared between patients with major depression and the healthy control subjects. Results: The patients with major depression showed increase of the r-CBF in right lingual gyrus, right fusiform gyrus, left lingual gyrus, left precuneus, and left superior temporal gyrus, and showed decrease of r-CBF in right pons, left medial frontal gyrus, cingulate gyrus of left limbic lobe, cingulate gyrus of right frontal lobe, and cingulate gyrus of right limbic lobe compared to the normal control. Conclusion: The Tc-99m ECD brain perfusion SPECT findings in our study did not differ from the previously reported regional cerebral blood flow pattern of patients with major depression. Especially, decreased rCBF pattern typical to major depression patients in the right pons, left medial frontal gyrus, and cingulate regions was clearly demonstrated.
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