• Title, Summary, Keyword: Phenotype

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Phenotypes and endotypes of severe asthma in children

  • Yoo, Young
    • Clinical and Experimental Pediatrics
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    • v.56 no.5
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    • pp.191-195
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    • 2013
  • Severe childhood asthma is a complicated and heterogeneous disorder with distinct phenotypes. Children with severe asthma have more persistent symptoms despite receiving treatment, more atopy, greater airway obstruction, and more air trapping than those with mild-to-moderate asthma. They also have higher morbidity and substantial airflow limitations that persist throughout adulthood. Identification of the phenotype clusters and endotypes of severe asthma can allow further modulation of the natural history of severe asthma and may provide the pathophysiologic rationale for appropriate management strategies.

Effects of Genetic Variants of ${\kappa}$-casein and ${\beta}$-lactoglobulin and Heat Treatment of Milk on Cheese and Whey Compositions

  • Choi, J.W.;Ng-Kwai-Hang, K.F.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.5
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    • pp.732-739
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    • 2002
  • Milk samples with different phenotype combination of $\{kappa}$-casein and ${\beta}$-lactoglobulin and different preheating temperatures of 30, 70, 75 and $80^{\circ}C$ were used for cheesemaking under laboratory conditions. For the 853 batches of cheese, mean composition was 59.64% total solids, 30.24% fat and 23.66% protein, and the whey contained 6.93% total solids, 0.30% fat and 0.87% protein. Least squares analysis of the data indicated that heating temperature of the milk and ${\kappa}$-CN/${\beta}$-LG phenotypes had significant effects on cheese and whey compositions. The total solids, fat and protein contents of cheese were negatively correlated with preheating temperatures of milk. Cheese from BB/BB phenotype milk had the highest and those from AA/AA phenotype milk had the lowest concentrations of total solids, fat and protein. Mean recoveries of milk components in the cheese were 53.71% of total solids, 87.15% of fat, and 80.32% of protein. For the 10 different types of milk, maximum recoveries of milk components in cheese occurred with preheating temperature of $70^{\circ}C$ or $75^{\circ}C$ and lowest recoveries occurred at $80^{\circ}C$. The whey averaged 6.94% total solids, 0.30% fat and 0.87% protein. Losses of milk components in the whey were lowest for milk preheated at $80^{\circ}C$ and for milk containing the BB/BB phenotype.

The Change of Blood Properties of HK Phenotype Jindo dogs Administrated with Excessive Amount of Water Celery Extracts (과량의 미나리 생즙 투여가 HK phenotype 진도견의 혈액상의 미치는 영향)

  • ;;;;;;;;Osamu Yamato
    • Journal of Veterinary Clinics
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    • v.18 no.4
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    • pp.334-340
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    • 2001
  • This study was conducted to investigate changes in blood properties of high potassium (HK) phenotype Jindo dogs (15kg$\pm$2kg) after daily oral administration with water celery extracts (10 ml/kg) for 7 days. Blood samples were collected for three days in a row before administration of water celery extracts. After water celery extracts administration, blood samples were collected at 3h, 6h, 9h and then on daily basis until day 10 post administration (PA). At day 15, final sample was collected. Blood samples were analyzed on the basis of red blood cell (RBC), white blood cell (WBC), packed cell volume (PCV), hemoglobin (Hb) concentration, mean corpuscular volume(MCV), mean corpuscular hemoglobin concentration(MCHC), gluthathione concentration(GSH) and met-hemoglobin(Met-Hb) concentration. The significant changes (p<0.01, p<0.05) of RBCs were shown at 3 h to day 5, and days 7 and 9 after administration. PCV values were decreased form 3 h to day 10 after administration. Mean Hb concentration showed significant increase as 3 h to day 3, and day 6 to day 9 after administration. The significant changes (p<0.05) of WBCs were shown at 9 h and day 1 after administration. The increased numbers of MCV were detected at days 6 to 9 after administration (p<0.05, p<0.01). The significant changes of MCHC were shown at 9h and day 1 after administration. The significant increases (p<0.01, p<0.05) of GSH concentration were detected at days 1, 6 and 7 after administration. In Met-Hb concentration, the significant increases (p<0.05) occurred at only 9h and day 7 after administration, The significant increases (p<0.01, p<0.05) of reticulocyte were detected at days 2, 4, 5, 6 and 7. Data from blood samples collected at day 15 after administration showed that all of blood analysis results returned to normal level, compared to controls.

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Interethnic Variations of CYP2C19 Genetic Polymorphism

  • Tassaneeyakul, Wongwiwat;Tassaneeyakul, Wichittra
    • Toxicological Research
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    • v.17
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    • pp.145-155
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    • 2001
  • Cytochrome P4502C19 (CYP2C19) is one of human polymorphic xenobiotic-metabolizing enzymes. The enzyme has been reported to catalyze more than 70 substrates, involving more than 100 reactions. These include several classes of therapeutic agents (e.g. anti-microbial. cardiovascular, psycho-active, etc.), sex hormones and insecticides. Associations of the CYP2C19 genotype/phenotype with individual differences in drug efficacy (e.g. diazepam, omeprazole, proguanil) and toxicity (e.g. mephenytoin, barbiturates) have been documented by many investigators. At least 11 allelic variants of CYP2C19 gene were reported to date. Most of the mutant alleles found in the poor metabolizer (PM) led to the production of truncated and/or inactive proteins. Except for the exon 6, single-nucleotide mutations were reported in all nine exons of the gene. Genetic polymorphism of CYP2C19 shows marked interethnic variation with the population frequencies of PM phenotype ranging from 1∼2% up to more than 50%. The prevalence of CYP2C19 PM tends to be higher in Asian and certain Pacific Islanders than other race or ethnic specificity. Genotyping results of CYP2C19 also revealed that there are different proportions of individual mutant alleles among ethnic populations. This may, in part, explains the interethnic difference in the metabolism of certain drugs (i.e. diazepam), though they were from the same CYP2C19 phenotype. Recently, our research group has studied the genotype and phenotype of CYP2C19 and found that the PM frequency (7∼8%) in Thais is lower than other Asian populations. Molecular and clinical impacts of this finding warrant to further investigation.

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A Study on the Debrisoquine Metabolism in a Group of Korean Population (일부 한국인 Debrisoquine 대사분포에 대한 연구)

  • Lee, Myung-Hak;Moon, Hwa-Young;Son, Myung-Ho;Sohn, Seok-Joon;Choi, Jin-Su
    • Journal of Preventive Medicine and Public Health
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    • v.27 no.3
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    • pp.569-579
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    • 1994
  • The genetically determined ability to metabolize debrisoquine (DBR) is related to risk of lung cancer and DBR hydroxylation exhibits wide inter-individual variation. In this study, 100 korean adults were tested for their ability to metabolize DBR. The DBR metabolic phenotype were determined by metabolic ratio (MR, DBR / 4-HDBR) which is the percent dose excreted as unchanged DBR divided by the percent dose excreted as 4-hydroxyebrisoquine(4-HDBR) in a aliquot of an eight hour urine sample, after 10mg DBR test dose administration. Analysis was performed on a capillary gas chromatograph fitted with electron capture detector. The results were as follows; 1 Geometric mean of DBR MR was 0.32 in male,0.27 in female,0.30 in total and the distribution of log (MR) was seemed to follow normal distribution. 2. Metabolic ratio of DBR was higher in non-smoker and non-drinker than in smoker and drinker without any statistically significant difference. 3. None of personal factors was significantly related to DBR MR except age. 4. The DBR metabolic phenotype was extensive metabolizer(EM) 93, intermediate metabolizer(IM) 7 by traditional method and EM 98, IM 3 by Caporaso's method. The poor metabolizer (PM) phenotype was not found by either method. 5. Maximal expected PM phenotype was 0.36% by traditional method and 0.04% by Caporaso's method.

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A Literature Review for Developing the Clinical Phenotype Evaluation System of Atopic Dermatitis (아토피피부염 증상평가지 개발을 위한 문헌고찰)

  • Ahn, Jin-Hyang;Yun, Young-Hee;Kim, Kyu-Seok;Jang, Bo-Hyeong;Ko, Seong-Gyu;Choi, In-Hwa
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.29 no.1
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    • pp.145-156
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    • 2016
  • Objective : We performed a literature review for developing the clinical phenotype evaluation system of atopic dermatitis.Methods : We searched the papers that describe symptoms for atopic dermatitis through Oriental Medicine Advanced Searching Integrated System(OASIS) and Korean Studies Incategoryation Service System(KISS). We looked through all the papers and finally chose 47 papers that are suitable for inclusion. Then, we extracted symptoms from these papers and arranged them in order of frequency and validity through experts' conference.Results : We found 360 papers and chose 47 papers. We decided to include general information of patients, systemic and dermatologic symptoms in evaluation category of atopic dermatitis. Through experts' conference, it was decided that general information has age, sex and body type; Systemic symptoms have 9 items; Dermatologic symptoms have 15 items.Conclusion : To evaluate atopic dermatitis objectively, the standardization of diagnostic tool is needed. Therefore we developed a clinical phenotype evaluation system of atopic dermatitis.

Weak D Testing is not Required for D- Patients With C-E- Phenotype

  • Choi, Sooin;Chun, Sejong;Lee, Hwan Tae;Yu, HongBi;Seo, Ji Young;Cho, Duck
    • Annals of Laboratory Medicine
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    • v.38 no.6
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    • pp.585-590
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    • 2018
  • Background: Although testing to detect weak D antigens using the antihuman globulin reagent is not required for D- patients in many countries, it is routinely performed in Korea. However, weak D testing can be omitted in D- patients with a C-E- phenotype as this indicates complete deletion of the RHD gene, except in rare cases. We designed a new algorithm for weak D testing, which consisted of RhCE phenotyping followed by weak D testing in C+ or E+ samples, and compared it with the current algorithm with respect to time and cost-effectiveness. Methods: In this retrospective study, 74,889 test results from January to July 2017 in a tertiary hospital in Korea were analyzed. Agreement between the current and proposed algorithms was evaluated, and total number of tests, time required for testing, and test costs were compared. With both algorithms, RHD genotyping was conducted for samples that were C+ or E+ and negative for weak D testing. Results: The algorithms showed perfect agreement (agreement=100%; ${\kappa}=1.00$). By applying the proposed algorithm, 29.56% (115/389 tests/yr) of tests could be omitted, time required for testing could be reduced by 36% (8,672/24,084 min/yr), and the test cost could be reduced by 16.53% (536.11/3,241.08 USD/yr). Conclusions: Our algorithm omitting weak D testing in D- patients with C-E- phenotype may be a cost-effective testing strategy in Korea.

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

  • Hong, Sungwon;Lee, Cha Gon
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.24-27
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    • 2018
  • Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

Adult Sandhoff Disease Presenting as Motor Neuron Disease Phenotype (운동신경원성 질환과 유사하게 발현된 샌드호프병)

  • Ahn, Suk-Won;Kim, Su-Hyun;Kim, Su-Yun;Kim, Sung-Min;Lee, Kwang-Woo;Sung, Jung-Joon
    • Annals of Clinical Neurophysiology
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    • v.11 no.2
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    • pp.74-77
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    • 2009
  • We report a 23-year-old woman with adult Sandhoff disease, who presented with motor neuron disease phenotype. The patient had experienced progressive motor weakness in four extremities since 1 year prior to admission. Electrophysiological study revealed wide-spread denervation potentials, and the assay of total hexosaminidase involving A and B activities showed decreased levels of these activities, which was consistent with Sandoff disease. This is the first Korean case of adult Sanhoff disease presented as a motor neuron disease phenotype.

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Colon Cancer Prevention by Detection of APC Gene Mutation in a Family with Attenuated Familial Adenomatous Polyposis

  • Poovorawan, Kittiyod;Suksawatamnuay, Sirinporn;Sahakitrungruang, Chucheep;Treeprasertsuk, Sombat;Wisedopas, Naruemon;Komolmit, Piyawat;Poovorawan, Yong
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.10
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    • pp.5101-5104
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    • 2012
  • Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.