The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.
Journal of the Korea Academia-Industrial cooperation Society
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v.20
no.5
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pp.417-426
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2019
This study examined to offer practical implications for the bullying for the prevention and response in early childhood education at the scene of the bullying that occur by to confirm the perception of the bullying to pre-service early childhood teachers. The survey questionnaire was completed by 313 pre-service early childhood teachers. SPSS Win program was used to perform frequency analysis, ANOVA. (1)The perception of bullying were significantly different according to grade and experience of child care practice, classroom observation, education program for taking preventive measure. (2)Teachers' perception about the action that can be seen as bullying followed by 'apply the violence, such as kicking, or were frequent', 'shared in things that often prevents','often to another carrier or shame in front of a friend'. (3)Perception about characteristics of bullying Perpetrators was 'aggressive behavior and talk much' and perception about characteristics of bullying victims was 'shy and not much'. (4)The reason of bullying perpetrators was 'Just for fun without a special reason' and the cause of bullying victims was 'problem of parents' child-rearing attitudes and home environment'. (5)Important institutions to combat bullying prevention followed by teacher, parents and family, community and the nation, preschool educational institution. Teachers guidance content of combat and prevent bullying was 'to be isolated from the class to infants continue to monitor'. Parents guidance content of combat and prevent bullying was 'communicate a lot and attention to children'. Early childhood education institutions guidance content of combat and prevent bullying was 'operations to come up with the bullying prevention education in educational time'. This study indicated that it is necessary to make efforts for increasing perception of bullying in pre-service early childhood teachers.
Journal of the Korea Academia-Industrial cooperation Society
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v.21
no.12
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pp.798-806
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2020
Dental sealant is a procedure to prevent dental caries on the occlusal surface of healthy teeth. Raw data from the 6th-7th Korean National Health and Nutritional Examination Survey (KNHANES) were analyzed. This study was conducted to provide basic data which is necessary for the national health care project and for expanding the standards of coverage for the Dental sealant procedure. In this study, subjects were a total of 4,366 children from the age of 6 to 18 and surveyed for the Amount of Received Dental sealant and rate of Received Dental sealant. In 2012, the coverage rate for pit and fissure sealing procedures differed significantly in terms of age, residential area and average monthly income. This coverage varied as per average monthly income in 2014 and as per age and average monthly income in 2017 (P < 0.05). In 2014, average monthly income had a significant influence on the coverage rate, while age and average monthly income had a significant influence on it in 2017 (P < 0.05). These findings suggest that in order to increase the sealing procedure coverage, continuous promotion of dental sealant projects, reduction of copayments, inclusion of varied tooth types and age groups, expansion of coverage to isolated areas and inclusion of socially disadvantaged groups are necessary.
Somak Das;Tuhin Subhra Manadal;Suman Das;Jayanta Biswas;Arunesh Gupta;Sreecheta Mukherjee;Sukanta Ray
Annals of Hepato-Biliary-Pancreatic Surgery
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v.27
no.4
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pp.350-365
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2023
Backgrounds/Aims: Extra hepatic portal venous obstruction (EHPVO) is the most common cause of portal hypertension in Indian children. While endoscopy is the primary modality of management, a subset of patients require surgery. This study aims to report the short- and long-term outcomes of EHPVO patients managed surgically. Methods: All the patients with EHPVO who underwent surgery between August 2007 and December 2021 were retrospectively reviewed. Postoperative complications were classified after Clavien-Dindo. Binary logistic regression in Wald methodology was used to determine the predictive factors responsible for unfavourable outcome. Results: Total of 202 patients with EHPVO were operated. Mean age of patients was 20.30 ± 9.96 years, and duration of illness, 90.05 ± 75.13 months. Most common indication for surgery was portal biliopathy (n = 59, 29.2%), followed by bleeding (n = 50, 24.8%). Total of 166 patients (82.2%) had shunt procedure. Splenectomy with esophagogastric devascularization was the second most common surgery (n = 20, 9.9%). Nine major postoperative complications (Clavien-Dindo > 3) were observed in 8 patients (4.0%), including 1 (0.5%) operative death. After a median follow-up of 56 months (15-156 months), 166 patients (82.2%) had favourable outcome. In multivariate analysis, associated splenic artery aneurysm (p = 0.007), isolated gastric varices (p = 0.004), preoperative endoscopic retrograde cholangiography and stenting (p = 0.015), and shunt occlusion (p < 0.001) were independent predictors of unfavourable long-term outcome. Conclusions: Surgery in EHPVO is safe, affords excellent short- and long-term outcome in patients with symptomatic EHPVO, and may be considered for secondary prophylaxis.
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.
Purpose : Although oseltamivir is widely used for treatment of influenza, few clinical studies of its efficacy and resistance have been performed in Korea. We evaluated the safety, side effects, and efficacy of oseltamivir treatment in Korean pediatric patients. Methods : We analyzed 321 children diagnosed with influenza at Busan St. Mary's Medical Center, Korea, between January 2008 and June 2008 (first study period) and November 2008 and January 2009 (second study period). Patients were divided into two groups: those receiving oseltamivir treatment for 5 days and those receiving only symptomatic treatment. We investigated clinical symptoms, side effects, and resistance to oseltamivir. We also identified influenza strains and evaluated resistance to oseltamivir using an influenza virus culture. Results : One hundred eighty-six patients were assigned to the treatment group, and 135 were assigned to the control group. The treatment group showed shorter admission duration (4.4 days) compared with controls (5.0 days) (P =0.000) and had fewer lower respiratory tract complications compared with controls (P <0.05). No significant statistical difference in the virus antigenic type was observed between the groups. In the first study period, virus culture showed influenza B (41.7% vs. 49.6%), A/H3N2 (7.9% vs. 8.4%), and A/H1N1 (9.4% vs. 6.5%). In the second study period, only A/H1N1 (55.3% vs. 50.0%) was isolated, except for one case of A (H3N2) in the treatment group. No differences in short- and long-term side effects, including neuropsychologic side effects, were noted between groups. There was no resistance to oseltamivir before or after treatment in the first study period. Conclusion : Based on our results, we suggest that osetalmivir therapy in pediatric patients is effective.
Park, Chan Hee;Na, Se Rin;Cho, Hyung Min;Yoo, Eun Jung;Jung, Kwon;Kim, Eun Young;Kim, Yong Wook;Kim, Kyoung Sim
Pediatric Infection and Vaccine
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v.15
no.2
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pp.152-161
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2008
Purpose : Staphylococcal scalded skin syndrome (4S) is uncommon, but reports of 4S are on the increase during the recent years. The purpose of this study is to determine the clinical features and associated factors of 4S during the recent 10 years. Methods : We retrospectively reviewed the medical records and microbiologic results of 63 patients (27 neonates and 36 children) from January 1998 to December 2007. Results : Since 2003, the incidence of 4S has increased. The mean age of the patients was 16.3 months and the gender ratio was 1:1. The clinical types of 4S were 38 cases of the abortive type (60%), 19 cases of the intermediate type (30%) and 6 cases of the generalized type (10%). The culture results were 36 cases of Methicillin resistant S. aureus (MRSA), 4 cases of Methicillin sensitive S. aureus and 17 cases of no growth. The patients were treated with semi-synthetic penicillin. For the 9 patients who had MRSA isolated and who didn't improve with penicillin, they were treated with vancomycin instead of penicillin. All the patients had no complications. 4S abruptly increased in 2005, and especially in neonates, due to an MRSA outbreak at a local nursery room. The associated factors of 4S in neonates were hospitalization (27 cases), including nursery infection in 2005 (18 cases) and dermatitis (1 case). There was an unknown origin for some children, and the suggested factors for their infection were community acquired infection (24 cases), atopic dermatitis (9 cases) and hospitalization (3 cases). Conclusion : 4S has recently been increasing. The major associated factors of 4S are a history of hospitalization, an outbreak in a nursery room, atopic dermatitis and community acquired infection.
Oh, Ji Eun;Chang, Ji Yeon;Kwon, Young Se;Kim, Soon Ki;Son, Byong Kwan;Hong, Young Jin
Pediatric Infection and Vaccine
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v.10
no.2
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pp.208-214
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2003
Purpose : We performed a retrospective study on bacterial meningitis in children, pertaining to the causative organisms, bacterial resistance to antibiotics and the effect of recent introduction of Haemophilus influenzae type b(Hib) vaccine. Methods : We analysed the forty-three cases of bacterial meningitis which had been treated at the Inha University Hospital from June 1996 to June 2003. Results : Nineteen cases(44.2%) of them were infants younger than 2 months of age, and 29 cases(67.5%) younger than 1 year of age. The common causative organisms under 2 months of age were group B streptococcus(GBS)(47.4%), E. coli(21.1%), and Klebsiella pneumoniae(21.1%). In the age group beyond 2 months of age, S. pneumoniae were seen in 50 %, H. influenzae in 16.7% and N. meningitidis in 16.7%. All of the five cases of Hib meningitis had not been vaccinated for Hib. There has been no Hib meningitis cases since 2001. Overall fatality rate was 4.5%, and complication occurred in 39%. Complications was significantly less frequent in patients resumed to be treated within 48 hours after onset compared to after 48 hours after onset. Penicillin resistance of S. pneumoniae and GBS isolated among bacterial meningitis cases was high. Conclusion : Timing of treatment after the onset of the disease appeared the most important factor for prognosis of bacterial meningitis. The cases of H. influenzae meningitis have decreased probably due to Hib vaccination.
Kim, Jung-Beom;Kim, Nan-Yong;Kang, Suk-Ho;Do, Young-Sook;Eom, Mi-Na;Yoon, Mi-Hye;Lee, Jong-Bok
Journal of Food Hygiene and Safety
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v.28
no.2
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pp.138-145
/
2013
This study was conducted to evaluate the microbiological contamination on commonly used hand towels in the child care centers and to investigate the toxin gene and toxin production ability of food-borne pathogens. A total of 22 commonly used hand towels including 7 for before use and 15 for during use were tested. The average number of total aerobic bacteria and fungi were 6.2 log CFU/100 $cm^2$ and 4.1 log CFU/100 $cm^2$. Coliform bacteria were detected in 4 out of 7 before used towels (57.1%) and all of during used towels (100%). These results showed that the sanitary conditions of hand towels in the child care centers should be improved promptly. Among the pathogenic bacteria, Staph. aureus and B. cereus without Salmonella spp. were detected in 5 (22.7%) and 11 (50.0%) out of 22 hand towels. All of Staphy. aureus isolated in this study did not possess any toxin genes and did not produce enterotoxin. The detection rate of hblC, hblD, and hblA toxin genes in B. cereus was 72.7, 72.7, and 54.5% respectively. The possession rate of nheA, nheB, and nheC toxin genes showed 81.8, 72.7, and 54.5% respectively. The cytK and entFM toxin genes were presented at 45.5 and 90.0% in B. cereus. The HBL was detected in 8 out of 11 B. cereus isolates (72.7%) and 5 B. cereus isolates produced NHE (45.5%). Ten out of eleven B. cereus isolates (90.9%) produced one or more enterotoxin such as HBL and NHE. From the results, using a private hand towel or paper towel is required to prevent the cross-contamination between commonly used hand towel and children's hands in the child care center.
Lee, Taek Jin;Chun, Jin Kyong;Choi, Kyoung Min;Yong, Dong Eun;Lee, Kyoung Won;Kim, Dong Soo
Pediatric Infection and Vaccine
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v.13
no.2
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pp.115-123
/
2006
Purpose : We investigated whether there had been any change in the epidemiology of Streptococcus pneumoniae in Korea before and after introduction of heptavalent pneumococcal conjugate vaccine(PCV7). Methods : Between September 2001 and August 2006, clinical isolates were collected from patients with pneumococcal infection in Severance Hospital, Seoul, Korea. We analyzed trends in serotype distribution and antibiotic resistance before and after the introduction of PCV7. Results : There were 363 strains of Streptococcus pneumoniae isolated from clinical specimens; 143 before and 220 after PCV7 introduction. The predominant serotypes, in order of decreasing frequency, were 19F, 19A, 23F, 6B, 6A, 3, 9V, 14, 11A, 4, 29, and 18C; 152 isolates(41.9%) belonged to types included in PCV7. The proportion of clinical isolates that were nonsusceptible to penicillin increased from 58.8% in 2001 to 83.6% in 2006(P=0.046). There was no significant diminution in pneumococcal infection caused by vaccine serotypes after the introduction of PCV7. In children younger than age 2 years, the proportion of clinical isolates that were vaccine serotypes was higher than in persons older than age 15 years (59.3% vs 37.8%, P=0.004). Conclusions : There was no significant diminution in pneumococcal infection caused by vaccine serotypes after the introduction of PCV7, therefore more universal pneumococcal immunization program is recommended especially for children younger than age 2 years.
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