1.Aldehyde dehydrogenase 2 rs671 genetic polymorphisms are associated with chemotherapy-induced nausea and vomiting.
Qun YANG ; Xiaoxin LIU ; Yuna JIANG ; Jinan MA
Journal of Southern Medical University 2023;43(6):1017-1022
OBJECTIVE:
To investigate the correlation between aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphisms and chemotherapy-induced nausea and vomiting (CINV).
METHODS:
A total of 90 Chinese patients with malignant tumors receiving chemotherapy for the first time were recruited in this study. The occurrence of CINV was observed within 120 h after treatment with docetaxel and cis-platinum chemotherapy (DP regimen). The data of the patients (including age, gender, tumor stage, habitual alcohol consumption, motion sickness, morning sickness, and average sleep time prior to chemotherapy) were collected through a questionnaire. ALDH2 rs671 polymorphisms of the patients were analyzed using a multiple single nucleotide polymorphism genotyping, and the Hardy-Weinberg equation was used for genetic linkage analysis. The correlations between the factors including ALDH2 rs671 polymorphisms and the occurrence of CINV were analyzed.
RESULTS:
The incidence of CINV was 48.9% among the patients receiving their first chemotherapy with DP regimen. Univariate analysis indicated that the genetic polymorphisms of ALDH2 rs671 were significantly correlated with the occurrence of CINV (P < 0.05). Multivariate logistic analysis indicated that ALDH2 rs671 mutation (OR: 3.019, 95% CI: 1.056-8.628, P < 0.05) and average sleep time prior to chemotherapy no longer than 6 h (OR: 2.807, 95% CI: 1.033-7.628, P < 0.05) were risk factors for CINV in patients with malignant tumors receiving the first chemotherapy with DP regimen.
CONCLUSION
ALDH2 gene mutation at rs671 is a risk factor contributing to the occurrence of CINV, and understanding of the underlying mechanism may help to more effectively control the occurrence of CINV.
Humans
;
Aldehyde Dehydrogenase, Mitochondrial/genetics*
;
Antineoplastic Agents/adverse effects*
;
Nausea/genetics*
;
Polymorphism, Single Nucleotide
;
Vomiting/genetics*
;
Neoplasms/drug therapy*
2.Hereditary hemorrhagic telangiectasia: a rare cause of long-lasting abdominal distension in an 8-year-old boy.
Leiling CHEN ; Shiming LANG ; Tingze HU ; Lin ZHONG ; Junjie LI
Chinese Medical Journal 2002;115(4):620-621
Abdomen, Acute
;
etiology
;
Child
;
Family Health
;
Female
;
Gastrointestinal Diseases
;
etiology
;
Genes, Dominant
;
genetics
;
Humans
;
Male
;
Nausea
;
etiology
;
Pedigree
;
Telangiectasia, Hereditary Hemorrhagic
;
complications
;
genetics
;
pathology
;
Time Factors
;
Vomiting
;
etiology
3.Familial Mediterranean Fever: The First Adult Case in Korea.
Ah Leum LIM ; Hyun Joo JANG ; Jung Wan HAN ; Yong Keun SONG ; Won Jun SONG ; Heung Jung WOO ; Young Ok JUNG ; Sea Hyub KAE ; Jin LEE
Journal of Korean Medical Science 2012;27(11):1424-1427
Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.
Abdominal Pain/etiology
;
Adult
;
Cytoskeletal Proteins/*genetics/metabolism
;
DNA Mutational Analysis
;
Familial Mediterranean Fever/*diagnosis/genetics
;
Fever/etiology
;
Humans
;
Male
;
Polymorphism, Single Nucleotide
;
Republic of Korea
;
Tomography, X-Ray Computed
;
Vomiting/etiology
4.Familial Mediterranean Fever: The First Adult Case in Korea.
Ah Leum LIM ; Hyun Joo JANG ; Jung Wan HAN ; Yong Keun SONG ; Won Jun SONG ; Heung Jung WOO ; Young Ok JUNG ; Sea Hyub KAE ; Jin LEE
Journal of Korean Medical Science 2012;27(11):1424-1427
Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.
Abdominal Pain/etiology
;
Adult
;
Cytoskeletal Proteins/*genetics/metabolism
;
DNA Mutational Analysis
;
Familial Mediterranean Fever/*diagnosis/genetics
;
Fever/etiology
;
Humans
;
Male
;
Polymorphism, Single Nucleotide
;
Republic of Korea
;
Tomography, X-Ray Computed
;
Vomiting/etiology
5.Epidemiological Aspects of Pertussis among Adults and Adolescents in a Korean Outpatient Setting: A Multicenter, PCR-Based Study.
Sunghoon PARK ; Sun Hwa LEE ; Ki Hyun SEO ; Kyeong Cheol SHIN ; Yong Bum PARK ; Myung Goo LEE ; Kwang Ha YOO ; Hui Jung KIM ; Jae Seuk PARK ; Jae Hwa CHO ; Yongchun KO ; Soo Keol LEE ; Ki Tae CHEON ; Do Il KIM ; Jun Wook HA ; Jae Myung LEE ; Ji Won SUHR ; Eui Hun JEONG ; Ki Suck JUNG
Journal of Korean Medical Science 2014;29(9):1232-1239
Epidemiological data of Bordetella pertussis infection among adolescents and adults are limited in Korea. Patients (> or = 11 yr of age) with a bothersome cough for less than 30 days were enrolled during a 1-yr period at 22 hospitals in Korea. Nasopharyngeal swabs were collected for polymerase chain reaction (PCR) and for bacteriologic culture. In total, 490 patients were finally enrolled, and 34 (6.9%) patients tested positive for B. pertussis; cough duration (14.0 days [7.0-21.0 days]) and age distribution were diverse. The incidence was the highest in secondary referral hospitals, compared to primary care clinics or tertiary referral hospitals (24/226 [10.6%] vs. 3/88 [3.4%] vs. 7/176 [4.0%], P = 0.012), and the peak incidence was observed in February and August (15.8% and 15.9%), with no confirmed cases between March and June. In the multivariate analysis, post-tussive vomiting was significantly associated with pertussis (odds ratio, 2.508; 95% confidence interval, 1.146-5.486) and secondary referral hospital showed a borderline significance. In conclusion, using a PCR-based method, 6.9% of adolescent and adult patients with an acute cough illness had pertussis infection in an outpatient setting. However, hospital levels and seasonal trends must be taken into account to develop a better strategy for controlling pertussis.
Adolescent
;
Adult
;
Bordetella pertussis/*genetics
;
Child
;
DNA, Bacterial/*analysis
;
Demography
;
Female
;
Humans
;
Incidence
;
Male
;
Middle Aged
;
Multivariate Analysis
;
Odds Ratio
;
*Polymerase Chain Reaction
;
Republic of Korea/epidemiology
;
Seasons
;
Vomiting/etiology
;
Whooping Cough/*epidemiology/microbiology/pathology
;
Young Adult
6.Porcine epidemic diarrhea: a review of current epidemiology and available vaccines.
Daesub SONG ; Hyoungjoon MOON ; Bokyu KANG
Clinical and Experimental Vaccine Research 2015;4(2):166-176
Porcine epidemic diarrhea virus (PEDV), an Alphacoronavirus in the family Coronaviridae, causes acute diarrhea, vomiting, dehydration, and high mortality rates in neonatal piglets. PEDV can also cause diarrhea, agalactia, and abnormal reproductive cycles in pregnant sows. Although PEDV was first identified in Europe, it has resulted in significant economic losses in many Asian swine-raising countries, including Korea, China, Japan, Vietnam, and the Philippines. However, from April 2013 to the present, major outbreaks of PEDV have been reported in the United States, Canada, and Mexico. Moreover, intercontinental transmission of PEDV has increased mortality rates in seronegative neonatal piglets, resulting in 10% loss of the US pig population. The emergence and re-emergence of PEDV indicates that the virus is able to evade current vaccine strategies. Continuous emergence of multiple mutant strains from several regions has aggravated porcine epidemic diarrhea endemic conditions and highlighted the need for new vaccines based on the current circulating PEDV. Epidemic PEDV strains tend to be more pathogenic and cause increased death in pigs, thereby causing substantial financial losses for swine producers. In this review, we described the epidemiology of PEDV in several countries and present molecular characterization of current strains. We also discuss PEDV vaccines and related issues.
Asian Continental Ancestry Group
;
Canada
;
China
;
Coronaviridae
;
Dehydration
;
Diarrhea*
;
Disease Outbreaks
;
Epidemiology*
;
Europe
;
Genetics
;
Humans
;
Japan
;
Korea
;
Mexico
;
Mortality
;
Philippines
;
Porcine epidemic diarrhea virus
;
Swine
;
United States
;
Vaccines*
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Vietnam
;
Vomiting
7.Inhibiting tumor-cell growth by novel truncated staphylococcal enterotoxin C2 mutant.
Jing HUI ; Fang XIAO ; Hui LI ; Xiaojin CUI ; Hongsheng LIU ; Fengqing HU
Chinese Journal of Biotechnology 2011;27(6):891-899
Clinical application of staphylococcal enterotoxin C2 (SEC2) was restricted during the cure of malignant tumor due to its side-effects. The aim of this study was to obtain SEC2 mutant, preserving the important functional sites responsible for the T-cell stimulatory activities but removing the sites responsible for emetic activity, through truncation of SEC2. It would efficiently solve the question of SEC2 side-effect. According to the results of methyl thiazol tetrazolium (MTT) assay in vitro, novel truncated SEC2 mutant (NSM) efficiently stimulated T-cell proliferation and inhibited the growth of such tumor cells as human colorectal cancer cells (Cx-1) and human breast cancer cells (MCF-7) in vitro. Activities of T cell stimulating and anti-tumor of NSM were similar to those of SEC2. According to results of animal experiments, the mutant no longer induced emetic response even if the dose was a 10-fold excess of the amount of SEC2 required. And also, NSM obviously inhibited the tumor growth in tumor-bearing mice. Therefore, we obtained novel truncated staphylococcal enterotoxin C2 mutant, which could efficiently inhibit the growth of tumor cells. It will become novel anti-tumor agents with the lowest side-effects and best treatment effects in clinic.
Animals
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Antineoplastic Agents
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adverse effects
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pharmacology
;
Breast Neoplasms
;
immunology
;
pathology
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Cell Line, Tumor
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Cell Proliferation
;
drug effects
;
Colorectal Neoplasms
;
immunology
;
pathology
;
Enterotoxins
;
genetics
;
immunology
;
Humans
;
Mice
;
Mutant Proteins
;
immunology
;
Staphylococcus aureus
;
immunology
;
Superantigens
;
immunology
;
T-Lymphocytes
;
immunology
;
Vomiting
;
prevention & control
8.Association of 5-HT3B Receptor Gene Polymorphisms with the Efficacy of Ondansetron for Postoperative Nausea and Vomiting.
Min Soo KIM ; Jeong Rim LEE ; Eun Mi CHOI ; Eun Ho KIM ; Seung Ho CHOI
Yonsei Medical Journal 2015;56(5):1415-1420
PURPOSE: Postoperative nausea and vomiting (PONV) is a common problem after general anesthesia. Although 5-hydroxytryptamine type 3 (5-HT3) receptor antagonists have significantly reduced PONV, over 35% of patients treated with ondansetron can experience PONV. In this study, we investigated whether the Y129S and -100_-102AAG deletion polymorphisms of the 5-HT3B receptor gene affect the efficacy of ondansetron in preventing PONV. MATERIALS AND METHODS: Two hundred and forty-five adult patients who underwent laparoscopic cholecystectomy were enrolled. Ondansetron 0.1 mg/kg was intravenously administered 30 minutes before the end of surgery. Genomic DNA was prepared from blood samples using a nucleic acid isolation device. Both the Y129S variant and the -100_-102AAG deletion variant were screened for using a single base primer extension assay and a DNA direct sequencing method, respectively. The relationship between genetic polymorphisms and clinical outcomes of ondansetron treatment was investigated. RESULTS: Among the 5-HT3B AAG deletion genotypes, the incidence of PONV was higher in patients with the homomutant than with other genotypes during the first 2 hours after surgery (p=0.02). There were no significant differences in the incidence of PONV among genotypes at 2-24 hours after surgery. In the Y129S variants of the 5-HT3B receptor gene, there were no significant differences in the incidence of PONV among genotypes during the first 2 hours and at 2-24 hours after surgery. CONCLUSION: The response to ondansetron for PONV was significantly influenced by the -100_-102AAG deletion polymorphisms of the 5-HT3B gene. Thus, the -100_-102AAG deletion variants may be a pharmacogenetic predictor for responsiveness to ondansetron for PONV.
Adult
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Aged
;
Anesthesia, General
;
Antiemetics/administration & dosage/*pharmacology
;
Cholecystectomy, Laparoscopic
;
Female
;
Genome, Human
;
Genotype
;
Humans
;
Incidence
;
Injections, Intravenous
;
Male
;
Middle Aged
;
Ondansetron/administration & dosage/*pharmacology
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Polymorphism, Genetic
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Postoperative Nausea and Vomiting/chemically induced/*drug therapy/epidemiology
;
Receptors, Serotonin, 5-HT3/*drug effects/*genetics
;
Time Factors
9.Risk Factors for Neurologic Complications of Hand, Foot and Mouth Disease in the Republic of Korea, 2009.
Seong Joon KIM ; Jong Hyun KIM ; Jin Han KANG ; Dong Soo KIM ; Ki Hwan KIM ; Kyung Hyo KIM ; Young Hoon KIM ; Ju Young CHUNG ; Joong Hyun BIN ; Da Eun JUNG ; Ji Hong KIM ; Hwang Min KIM ; Doo Sung CHEON ; Byung Hak KANG ; Soon Young SEO
Journal of Korean Medical Science 2013;28(1):120-127
In 2009, the first outbreak of hand, foot and mouth disease (HFMD) or herpangina (HP) caused by enterovirus 71 occurred in the Republic of Korea. This study inquired into risk factors associated with complications of HFMD or HP. A retrospective medical records review was conducted on HFMD or HP patients for whom etiologic viruses had been verified in 2009. One hundred sixty-eight patients were examined for this investigation. Eighty patients were without complications while 88 were accompanied by complications, and 2 had expired. Enterovirus 71 subgenotype C4a was the most prevalent in number with 67 cases (54.9%). In the univariate analysis, the disease patterns of HFMD rather than HP, fever longer than 4 days, peak body temperature over 39degrees C, vomiting, headache, neurologic signs, serum glucose over 100 mg/dL, and having an enterovirus 71 as a causative virus were significant risk factors of the complications. After multiple logistic analysis, headache (Odds ratio [OR], 10.75; P < 0.001) and neurologic signs (OR, 42.76; P < 0.001) were found to be the most significant factors. Early detection and proper management of patients with aforementioned risk factors would be necessary in order to attain a better clinical outcome.
Adolescent
;
Adult
;
Blood Glucose/analysis
;
Body Temperature
;
Enterovirus A, Human/genetics/isolation & purification
;
Female
;
Fever/etiology
;
Genotype
;
Hand, Foot and Mouth Disease/*complications/virology
;
Headache/etiology
;
Herpangina/*complications/virology
;
Humans
;
Logistic Models
;
Male
;
Middle Aged
;
Odds Ratio
;
Republic of Korea
;
Retrospective Studies
;
Risk Factors
;
Vomiting/etiology
;
Young Adult
10.The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase (MCAD) Gene in Neonates Determined from Guthrie Card.
Baeck Hee LEE ; Hye Won PARK ; Moon Soo PARK ; Ho Jin PARK ; Yong CHOI ; Hae Il CHEONG
Journal of the Korean Pediatric Society 1997;40(12):1645-1651
PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Acyl-CoA Dehydrogenase*
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Apnea
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Death, Sudden
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Developmental Disabilities
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Diagnosis
;
DNA
;
Ethidium
;
Fasting
;
Fatty Acids
;
Genetic Diseases, Inborn
;
Genetics, Population
;
Humans
;
Hypoglycemia
;
Infant, Newborn*
;
Mass Screening
;
Molecular Biology
;
Mortality
;
Neonatal Screening
;
Point Mutation
;
Polymerase Chain Reaction
;
Prevalence*
;
Red Cross
;
Reye Syndrome
;
Seizures
;
Seoul
;
Sudden Infant Death
;
Survivors
;
Vomiting