• Title/Summary/Keyword: Genetic Approach

Search Result 1,323, Processing Time 0.025 seconds

DENTAL MANAGEMENT OF CHILDREN WITH HEMOPHILIA UNDER THE GENERAL ANESTHESIA : A CASE REPORT (혈우병 B 환아의 전신마취 하 치과치료 : 증례보고)

  • Kim, Soo-Kyoung;Park, Jea-Hong;Lee, Keung-Ho;Kim, Kwang-Chul;Choi, Sung-Chul
    • The Journal of Korea Assosiation for Disability and Oral Health
    • /
    • v.4 no.1
    • /
    • pp.7-11
    • /
    • 2008
  • Hemophilia is a group of gender-linkage inherited bleeding disorders that impair the body's ability to control blood clotting or coagulation. This sex-linked disorder is transmitted on the X chromosome. These genetic disorders have lower blood plasma clotting factor level of coagulation factor. Most common form is Hemophilia A and B. Restorative dental care and simple surgery for the hemophiliac patient are quite often neglected for fear of bleeding during procedures. Even dental specialist avoid these patients and make them severe problem patients. On the dental treatment especially, invasive procedure, special considerations of bleeding control are required. Inter-consultation with the hematologist will provide orientation on the best approach to dental treatment, such as the need of replacement therapy, the modification of antifibrinolytic therapy, the application of local hemostatic methods. In this case reports, we successfully treat early childhood caries of patient with hemophilia B under the general anesthesia.

  • PDF

Generation and Expression in Plants of a Single-Chain Variable Fragment Antibody Against the Immunodominant Membrane Protein of Candidatus Phytoplasma Aurantifolia

  • Shahryari, F.;Safarnejad, M.R.;Shams-Bakhsh, M.;Schillberg, S.;Nolke, G.
    • Journal of Microbiology and Biotechnology
    • /
    • v.23 no.8
    • /
    • pp.1047-1054
    • /
    • 2013
  • Witches' broom of lime is a disease caused by Candidatus Phytoplasma aurantifolia, which represents the most significant global threat to the production of lime trees (Citrus aurantifolia). Conventional disease management strategies have shown little success, and new approaches based on genetic engineering need to be considered. The expression of recombinant antibodies and fragments thereof in plant cells is a powerful approach that can be used to suppress plant pathogens. We have developed a single-chain variable fragment antibody (scFvIMP6) against the immunodominant membrane protein (IMP) of witches' broom phytoplasma and expressed it in different plant cell compartments. We isolated scFvIMP6 from a naïve scFv phage display library and expressed it in bacteria to demonstrate its binding activity against both recombinant IMP and intact phytoplasma cells. The expression of scFvIMP6 in plants was evaluated by transferring the scFvIMP6 cDNA to plant expression vectors featuring constitutive or phloem specific promoters in cassettes with or without secretion signals, therefore causing the protein to accumulate either in the cytosol or apoplast. All constructs were transiently expressed in Nicotiana benthamiana by agroinfiltration, and antibodies of the anticipated size were detected by immunoblotting. Plant-derived scFvIMP6 was purified by affinity chromatography, and specific binding to recombinant IMP was demonstrated by enzyme-linked immunosorbent assay. Our results indicate that scFvIMP6 binds with high activity and can be used for the detection of Ca. Phytoplasma aurantifolia and is also a suitable candidate for stable expression in lime trees to suppress witches' broom of lime.

Single Nucleotide Polymorphisms on Peroxisome Proliferator-activated Receptor Genes Associated with Fatness Traits in Chicken

  • Meng, H.;Zhao, J.G.;Li, Z.H.;Li, H.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.18 no.9
    • /
    • pp.1221-1225
    • /
    • 2005
  • The peroxisome proliferator-activated receptors (PPARs) are members of a superfamily of nuclear hormone receptors. Lots of studies in rodents and humans have shown that PPARs were involved in lipid metabolism and adipocyte differentiation. The main objective of this work was to detect the single nucleotide polymorphisms (SNPs) in whole coding regions of peroxisome proliferator-activated receptor alpha (PPAR-$\alpha$) and gamma (PPAR-$\gamma$) genes with approach of single strand conformation polymorphism (SSCP) in the chicken population of Arber Acres broiler, Hyline layer and three Chinese native breeds (Shiqiza, Beijing You, Bai'r). Two SNPs of C1029T and C297T were found in chicken PPAR-$\alpha$ and PPAR-$\gamma$ genes respectively and each SNP found three genotypes in the experimental populations. The results showed that the distribution frequency of 3 genotypes in Arber Acres broiler, Hyline layer and Chinese native breeds had significant differences on the PPAR-$\alpha$ and PPAR-$\gamma$ gene respectively (p<0.01). Furthermore, in the PPAR-$\alpha$ gene, the results of least square estimation for genotypes and body composition traits showed the BB genotype birds had higher abdominal fat weight (AFW) and percentage of abdominal fat (AFP) than AA genotype birds (p<0.05). From these we conjecture the PPAR-$\alpha$ and PPAR-$\gamma$ genes were suffered intensive selection during the long term commercial breeding and the PPAR-$\alpha$ gene may be a major gene or linked to the major genes that impact chicken fat metabolism and the SNPs could be used in molecular assistant selection (MAS) as a genetic marker for the chicken fatness traits.

Multiplex RT-PCR Assay for Detection of Common Fusion Transcripts in Acute Lymphoblastic Leukemia and Chronic Myeloid Leukemia Cases

  • Limsuwanachot, Nittaya;Siriboonpiputtana, Teerapong;Karntisawiwat, Kanlaya;Chareonsirisuthigul, Takol;Chuncharunee, Suporn;Rerkamnuaychoke, Budsaba
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.2
    • /
    • pp.677-684
    • /
    • 2016
  • Background: Acute lymphoblastic leukemia (ALL) is a heterogeneous disease which requires a risk-stratified approach for appropriate treatment. Specific chromosomal translocations within leukemic blasts are important prognostic factors that allow identification of relevant subgroups. In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A-PBX1). Materials and Methods: A total of 214 diagnosed ALL samples from both adult and pediatric ALL and 14 cases of CML patients (154 bone marrow and 74 peripheral blood samples) were assessed for specific chromosomal translocations by cytogenetic and multiplex RT-PCR assays. Results: The results showed that 46 cases of ALL and CML (20.2%) contained the fusion transcripts. Within the positive ALL patients, the most prevalent cryptic translocation observed was mBCR-ABL (p190) at 8.41%. In addition, other genetic rearrangements detected by the multiplex PCR were 4.21% TEL-AML1 and 2.34% E2A-PBX1, whereas MLL-AF4 exhibited negative results in all tested samples. Moreover, MBCR-ABL was detected in all 14 CML samples. In 16 samples of normal karyotype ALL (n=9), ALL with no cytogentic result (n=4) and CML with no Philadelphia chromosome (n=3), fusion transcripts were detected. Conclusions: Multiplex RT-PCR provides a rapid, simple and highly sensitive method to detect fusion transcripts for prognostic and risk stratification of ALL and CML patients.

Epigenetic Changes within the Promoter Regions of Antigen Processing Machinery Family Genes in Kazakh Primary Esophageal Squamous Cell Carcinoma

  • Sheyhidin, Ilyar;Hasim, Ayshamgul;Zheng, Feng;Ma, Hong
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.23
    • /
    • pp.10299-10306
    • /
    • 2015
  • The esophageal squamous cell carcinoma (ESCC) is thought to develop through a multi-stage process. Epigenetic gene silencing constitutes an alternative or complementary mechanism to mutational events in tumorigenesis. Posttranscriptional regulation of human leukocyte antigen class I (HLA-I) and antigen processing machinery (APM) proteins expression may be associated with novel epigenetic modifications in cancer development. In the present study, we determined the expression levels of HLA-I antigen and APM components by immunohistochemistry. Then by a bisulfite-sequencing PCR (BSP) approach, we identified target CpG islands methylated at the gene promoter region of APM family genes in a ESCC cell line (ECa109), and further quantitative analysis of CpG site specific methylation of these genes in cases of Kazakh primary ESCCs with corresponding non-cancerous esophageal tissues using the Sequenom MassARRAY platform. Here we showed that the development of ESCCs was accompanied by partial or total loss of protein expression of HLA-B, TAP2, LMP7, tapasin and ERp57. The results demonstrated that although no statistical significance was found of global target CpG fragment methylation level sof HLA-B, TAP2, tapasin and ERp57 genes between ESCC and corresponding non-cancerous esophageal tissues, there was significant differences in the methylation level of several single sites between the two groups. Of thesse only the global methylation level of LMP7 gene target fragments was statistically higher ($0.0517{\pm}0.0357$) in Kazakh esophageal cancer than in neighboring normal tissues ($0.0380{\pm}0.0214$, p<0.05). Our results suggest that multiple CpG sites, but not methylation of every site leads to down regulation or deletion of gene expression. Only some of them result in genetic transcription, and silencing of HLA-B, ERp57, and LMP7 expression through hypermethylation of the promoters or other mechanisms may contribute to mechanisms of tumor escape from immune surveillance in Kazakh esophageal carcinogenesis.

Cervical Cancer Gene Therapy by Gene Loaded PEG-PLA Nanomedicine

  • Liu, Bo;Han, Shu-Mei;Tang, Xiao-Yong;Han, Li;Li, Chang-Zhong
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.12
    • /
    • pp.4915-4918
    • /
    • 2014
  • Background and Aims: Advances in the treatment of cervical cancer over the last decade have predominantly involved the development of genes directed at molecular targets. Gene therapy is recognized to be a novel method for the treatment of cervical cancer. Genes can be administered into target cells via nanocarriers. This study aimed to develop systemically administrable nano-vectors. Floate (Fa) containing gene loaded nanoparticles (NPs) could target HeLa human cervical cancer cells through combination with receptors on the cells to increase the nuclear uptake of genetic materials. Methods: Fa was linked onto Poly (ethylene glycol)-b-poly (D, L-lactide) (PEG-PLA) to form Fa-PEG-PLA, and the resulting material was used to load plasmids of enhanced green fluorescence protein (pEGFP) to obtain gene loaded nanoparticles (Fa-NPs/DNA). Physical-chemical characteristics, in vitro release and cytotoxicity of Fa-NPs/DNA were evaluated. The in vitro transfection efficiency of Fa-NPs/DNA was evaluated in HeLa cells and human umbilical vein endothelial cells (HUVEC). PEG-PLA without Fa was used to load pEGFP from NPs/DNA as a control. Results: Fa-NPs/DNA has a particle size of 183 nm and a gene loading quantity of 92%. After 72h of transfection, Fa-NPs/DNA displayed over 20% higher transfection efficiency than NPs/DNA and 40% higher than naked DNA in HeLa cells. However, in HUVECs, no significant difference appeared between Fa-NPs/DNA and NPs/DNA. Conclusions: Fa-PEG-PLA NPs could function as excellent materials for gene loading. This nano-approach could be used as tumor cell targeted medicine for the treatment of cervical cancer.

The Function of Basal Ganglia & Parkinson's Disease (대뇌 기저핵의 기능과 파킨슨 질환)

  • Kim, Jin-Ung;Ghang, Goon-Yong
    • Journal of Korean Physical Therapy Science
    • /
    • v.9 no.2
    • /
    • pp.159-170
    • /
    • 2002
  • Parkinson's disease(PD) is a progressive neurodegenerative disease that affects the functioning of the basal ganglia, a brain area that contributes to the control of movement. The disease is caused by the death of nerve cells in the brain that produce dopamine, a chemical messenger. The cells affected usually produce a neurotransmitter(a chemical that transmits nerver impulses) called dopamine, which acts with acetylcholine, another neurotransmitter, to fine-tune muscle control. In Parkinson's disease, the level of dopamine relative to acetylcholine is reduced, adversely affecting muscle control. When the supply of dopamine is depleted, the function of the basal ganglia is disrupted and its ability to control movement-deteriorates. The result is that PD patients experience moderate rigidity, difficulty in initiating movements and slowness in executing them, and a rhythmical tremor at rest. Although the cause of Parkinson's disease is not known, genetic factors may be involved. About 3 in 10 people with the disorder have an affected family member. About 1 in 100 people over the age of 60 in the US have Parkinson's disease. And Parkinson's disease is slightly more common in men. The course of the disease is variable, but drags may be the best effective in treating the symptoms and improving quality of life. But, The doctor may arrange physical therapy to help with physical mobility problems. It is important to continue to exercise and take care of your general health. Try to take a walk each day. Stretching exercises can help you maintain your strength and mobility. So, This papers will serve about the information of PD for clinical physical therapist. Finally, The aim of review is increasing approach method and technique for PD patients by the view of physical therapy.

  • PDF

Comparative Genomics Reveals the Core and Accessory Genomes of Streptomyces Species

  • Kim, Ji-Nu;Kim, Yeonbum;Jeong, Yujin;Roe, Jung-Hye;Kim, Byung-Gee;Cho, Byung-Kwan
    • Journal of Microbiology and Biotechnology
    • /
    • v.25 no.10
    • /
    • pp.1599-1605
    • /
    • 2015
  • The development of rapid and efficient genome sequencing methods has enabled us to study the evolutionary background of bacterial genetic information. Here, we present comparative genomic analysis of 17 Streptomyces species, for which the genome has been completely sequenced, using the pan-genome approach. The analysis revealed that 34,592 ortholog clusters constituted the pan-genome of these Streptomyces species, including 2,018 in the core genome, 11,743 in the dispensable genome, and 20,831 in the unique genome. The core genome was converged to a smaller number of genes than reported previously, with 3,096 gene families. Functional enrichment analysis showed that genes involved in transcription were most abundant in the Streptomyces pan-genome. Finally, we investigated core genes for the sigma factors, mycothiol biosynthesis pathway, and secondary metabolism pathways; our data showed that many genes involved in stress response and morphological differentiation were commonly expressed in Streptomyces species. Elucidation of the core genome offers a basis for understanding the functional evolution of Streptomyces species and provides insights into target selection for the construction of industrial strains.

Evaluation of the Quality of the Case Reports in Journal of Korean Medicine from Year 2015 to 2020 : Using CARE Guidelines (CARE 지침에 따른 대한한의학회지의 증례 보고에 대한 질 평가 연구: 2015년~2020년 증례 보고를 중심으로)

  • Hwang, Ji Hye;Ku, Jaseung;Nam, Eun-Young
    • The Journal of Korean Medicine
    • /
    • v.41 no.2
    • /
    • pp.80-95
    • /
    • 2020
  • Objectives: The purpose of this study is to assess the quality of the Journal of Korean medicine case reports. Methods: Case reports published in the Journal of Korean Medicine from January 2015 to March 2020 were selected by using Oriental Medicine Advanced Searching Integrated System (OASIS) and the journal search system of the Korean Medical Association (https://www.jkom.org). The quality of the case reports was assessed using the Consensus-based Clinical Case Reporting Guideline Development (CARE) guidelines. Results: 33 case reports were selected for the assessment. Based on the CARE guidelines, 61.54% of the case reports included necessary information, but the quality level was uneven. More than 60% of the reports were missing data regarding 'Discussion of the strengths and limitations in your approach to this case', 'Intervention adherence and tolerability', 'Timeline', 'Medical, family, and psychosocial history including relevant genetic information', 'Patient perspective or experience', 'Adverse and unanticipated events', 'Administration of intervention', and 'De-identified demographic information and other patient specific information'. In most reports of over 90%, data regarding 'Diagnostic challenges', 'Intervention adherence and tolerability', and 'Key word' were not included. Conclusions: Efforts are needed to improve the quality of case reports in the Journal of Korean Medicine, and it is necessary to develop appropriate guidelines for case reporting for the Journal of Korean Medicine. In addition, all articles submitted to the Journal of Korean Medicine are to be complied with submission instructions and CARE guidelines.

A case of spinal muscular atrophy typeⅡ (제 2 형 척수근위축증(SMA type II; Spinal muscular atrophy typeⅡ) 환아 1례에 대한 증례보고)

  • Jo Hyeong-Jun;Lee Jin-Yong;Kim Deok-Gon
    • The Journal of Pediatrics of Korean Medicine
    • /
    • v.14 no.1
    • /
    • pp.197-204
    • /
    • 2000
  • Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected-the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle-and then on the determination of the etiology and specific clinical entity. Spinal muscular atrophy(SMA) is the most common autosomal-recessive genetic disorder lethal to infants. The three major childhood-onset forms of SMA are now usually called type I, type II and typeⅢ. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis. Diagnosis is based on the course of the illness, as well as certain changes seen on nerve and muscle biopsy and electrodiagnostic studies. More recently, our understanding of the genetics of this disorder has provided a noninvasive approach to diagnosis. We report on a 3-year-old male patient with spinal muscular atrophy type II. He had progressive muscular weakness since 18 months of age. The upper arms were slightly, and the thighs moderately atrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. Electromyogram revealed a neurogenic pattern.

  • PDF