• 제목/요약/키워드: mutational analysis

검색결과 127건 처리시간 0.037초

각종 후두질환에서 음성치료의 효과 (The Efficiency of Voice Therapy on Various Laryngeal Disorders)

  • 왕수건;권순복;노환중;고의경;전경명
    • 대한후두음성언어의학회지
    • /
    • 제10권1호
    • /
    • pp.17-23
    • /
    • 1999
  • Vocal hyperfunction is considered to be the most significant characteristic in larynx disorders which is found among many patients presenting hoarseness Primarily as chief complaint. In Pusan National University Hospital, we executed the voice therapy to 28 patients being 17 female and 11 male patients who visited the Voice & Speech Therapy Clinic, due to the voice disorder, and then compared and analysed the voice before and after its therapy using acoustic and aerodynamic test. The obtained results were as follows. In the analysis by the local findings, it was improved to 88% in the patients of vocal nodule, 75% in mutational falsetto, 75% in the functional dysphonia, 75% in the vocal cord palsy, 50% in the vocal polyp and 50% in dysphonia plica ventricularis. For the acoustic analysis, Fo, litter, Shimmer and NHR were measured. In the patients of mutational falsetto, Fo, Jitter and NHR were shown to be improved significantly and in the patients of vocal nodule, Shimmer was shown to be improved significantly. In the patients of vocal polyp, Fo was significantly improved. In the patients of vocal cord palsy in litter and NHH were significantly improved. In the patients of dysphonia plica ventricularis, Shimmer and NHR were significantly improved and the patients of functional dysphonia were more improved in Fo, litter and Shimmer. For the aerodynamic analysis, MPT was measured. In particular, it was shown to be improved significantly in the patients of vocal nodule, improved in the vocal polyp, vocal cord palsy, functional dysphonia patients.

  • PDF

Clinical Outcomes and Prognostic Factors Associated with the Response to Erlotinib in Non-Small-Cell Lung Cancer Patients with Unknown EGFR Mutational Status

  • Aydiner, Adnan;Yildiz, Ibrahim;Seyidova, Avesta
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제14권5호
    • /
    • pp.3255-3261
    • /
    • 2013
  • Background: The efficacy of erlotinib is controversial in patients with unknown EGFR mutational status. The aim of this study was to identify the clinicopathological factors that are predictive of erlotinob treatment outcomes for NSCLC patients with unknown EGFR mutational status. Materials and Methods: A retrospective analysis of 109 patients with advanced NSCLC who had previously failed at least one line of chemotherapy and received subsequent treatment with erlotinib (150 mg/day orally) was performed. A Cox proportional hazard model for univariate and multivariate analyses was used to identify the baseline clinical parameters correlating with treatment outcome, expressed in terms of hazard ratios (HRs) and 95% confidence intervals. Results: The median treatment duration was 15 weeks (range, 4-184). The disease control rate was 55%, including disease stability for ${\geq}3$ months for 40% of the patients. Median progression-free survival and median overall survival (OS) were 4.2 and 8.5 months, respectively. The Cox model indicated that an Eastern Cooperative Oncology Group performance status (ECOG PS) ${\geq}2$ (HR 3.82; p<0.001), presence of intra-abdominal metastasis (HR 3.42; p=0.002), 2 or more prior chemotherapy regimens (HR 2.29; p=0.021), and weight loss >5% (HR 2.05; p=0.034) were independent adverse prognostic factors for OS in NSCLC patients treated with erlotinib. Conclusions: This study suggests that NSCLC patients should be enrolled in erlotinib treatment after a first round of unsuccessful chemotherapy to improve treatment success, during which they should be monitored for intra-abdominal metastasis and weight loss.

GFP as a Genetic Marker in Transgenic Fish

  • Lee, Jeong-Ho;Kim, Kyung-Kil;Kim, Young-Ok
    • 한국어업기술학회:학술대회논문집
    • /
    • 한국어업기술학회 2002년도 추계 수산관련학회 공동학술대회발표요지집
    • /
    • pp.183-184
    • /
    • 2002
  • The use of transgenic fish has so far been chiefly limited by the lack of predictable, strong, tissue specific, and position-independent expression of transgenes. For genetic analysis, expression of a marker transgene, easily screenable in the living fish, could facilitate studies of gene targeting, insertional mutagenesis, lineage, and mutational analysis. (omitted)

  • PDF

Diagnostic Mutational Analysis of MECP2 in Korean patients with Rett syndrome

  • Kim, In-Joo;Kim, Yeon-Joo;Son, Byeong-Hee;Nam, Sang-Ook;Kang, Hoon-Chul;Kim, Heung-Dong;Choi, Ook-Hwan;Yoo, Mi-Ae;Kim, Cheol-Min
    • 대한유전성대사질환학회지
    • /
    • 제5권1호
    • /
    • pp.48-56
    • /
    • 2005
  • Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

  • PDF

Some Motifs Were Important for Myostatin Transcriptional Regulation in Sheep (Ovis aries)

  • Du, Rong;An, Xiao-Rong;Chen, Yong-Fu;Qin, Jian
    • BMB Reports
    • /
    • 제40권4호
    • /
    • pp.547-553
    • /
    • 2007
  • Many motifs along the 1.2 kb myostatin promoter (MSTNpro) in sheep have been found by the MatInspecter program in our recent study. To further verify the role of the motifs and better understand the transcriptional regulation mechanism of the myostatin gene in sheep, the reporter gene EGFP (enhanced green fluorescent protein) was selected and the wild-type (W) vector MSTNPro$^W$-EGFP or motif-mutational (M) vector MSTNPro$^M$-EGFP were constructed. The transcriptional regulation activities were analyzed by detecting the fluorescence strength of EGFP in C2C12 myoblasts transfected with the vectors. The results showed that E-box (E) 3, E4, E5 and E7, particularly E3, E5 and E7, had important effects on the activity of the 1.2 kb sheep myostatin promoter. In addition, we also detected several other important motifs such as MTBF (muscle-specific Mt binding factor), MEF2 (myocyte enhancer factor 2), GRE (glucocorticoid response elements) and PRE (progesterone response elements) along the sheep myostatin promoter by the mutational analysis.

Chronic Myeloid Leukemia - Prognostic Value of Mutations

  • Kaleem, Bushra;Shahab, Sadaf;Ahmed, Nuzhat;Shamsi, Tahir Sultan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • 제16권17호
    • /
    • pp.7415-7423
    • /
    • 2015
  • Chronic myeloid leukemia (CML) is a stem cell disorder characterized by unrestricted proliferation of the myeloid series that occurs due to the BCR-ABL fusion oncogene as a result of reciprocal translocation t(9;22) (q34;q11). This discovery has made this particular domain a target for future efforts to cure CML. Imatinib revolutionized the treatment options for CML and gave encouraging results both in case of safety as well as tolerability profile as compared to agents such as hydroxyurea or busulfan given before Imatinib. However, about 2-4% of patients show resistance and mutations have been found to be one of the reasons for its development. European Leukemianet gives recommendations for BCR-ABL mutational analysis along with other tyrosine kinase inhibitors (TKIs) that should be administered according to the mutations harbored in a patient. The following overview gives recommendations for monitoring patients on the basis of their mutational status.