• Title/Summary/Keyword: mutational analysis

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The Efficiency of Voice Therapy for the Patients with Mutational Falsetto (변성발성장애 환자에 대한 음성치료의 효과)

  • 표화영
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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    • v.9 no.2
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    • pp.134-141
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    • 1998
  • Mutational falsetto is a kind of voice disorders due to the failure to acquire proper low-pitched voice during the puberty. The patients with mutational falsetto can produce the normal low-pitched voice by the surgical treatment, like the type III-thyroplasty, or the voice therapy. The present study is, focusing on the latter treatment, to consider the efficiency of voice therapy for the mutational falsetto. The 7 patients who were diagnosed as mutational falsetto by the laryngologists, and treated by the voice therapist were selected as subjects. Their voices of pretherapy and posttherapy were analyzed on the aspects of acoustics and aerodynamics. Acoustic analysis was done by the MDVP(Multidimensional Voice Program) of CSL(Computerized Speech Lab, Kay Elemetrics, Co.), and aerodynamic analysis, by the Maximum Sustained Phonation of Aerophone II(Kay Elemetrics, Co.). By these measurements, we could find that fundamental frequency(F0) was significantly lowered, on the average, 65Hz. Maximum phonation time(MPT) was increased 4.57 second, and shimmer was decreased 1.644%, respectively, and each changes was statistically significant, too. On the average, jitter was decreased 0.499%, mean flow rate(MFR) was decreased 27.71ml/sec, and NHR was increased 0.023 which was the only parameter not showing improvement. But the changes of jitter, MFR and NHR were not statistically significant.

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The Therapeutic Effects of $SKTCLP^{(R)}$ in Patients with Mutational Dysphonia (생리적 발성 기법의 변성발성장애 치료 적용 효과)

  • Kim, Seong-Tae;Nam, Soon-Yuhl
    • Phonetics and Speech Sciences
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    • v.3 no.2
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    • pp.99-105
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    • 2011
  • The treatment for patients with mutational dysphonia typically is useful with vegetative phonation, but has not yet been studied. This study attempts to identify the effect of $SKTCLP^{(R)}$ using throat clearing and laughing in patients with mutational dysphonia. The study, which was designed by the author, included 26 patients aged from 14 to 32 years (mean: 18.7 years) who had been diagnosed with mutational dysphonia between January 2007 and June 2010. Voice therapy for these patients included $SKTCLP^{(R)}$, ranging from two to seven sessions (mean: 3.8 sessions). Results were evaluated by videostroboscopy, perceptual evaluation of GRBAS scale, aerodynamic test, and acoustic analysis before and after therapy. Most patients could phonate with low pitch from the beginning and sustain with normal pitch sound in the last session. We had found that glottic gap reduced after therapy and anterior-posterior compression of superior laryngeal part at the first time, and these patients had complete closure of the glottis after treatment. The results of acoustic and aerodynamic measures after treatment indicated significant decreases in Fo, Jitter, Shimmer, SFF, and SPI, and increases in MPT, Psub, and vocal efficiency (p<.05). $SKTCLP^{(R)}$ may be a useful treatment method in managing mutational dysphonia. We can suggest this technique may be useful in improving the voice quality of other functional dysphonia having glottal chink or functional aphonia.

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Mutation Spectrum of Manganese (II) Peroxidase Gene in the Pleurotus ostreatus Mutants Induced by Gamma Radiation

  • Chang, Hwa-Hyoung;Lee, Young-Keun;Kim, Jae-Sung;Lee, Ki-Sung;Cho, Kyu-Seong
    • Journal of Microbiology
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    • v.41 no.1
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    • pp.52-57
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    • 2003
  • The mutational spectra in the manganese (II) peroxidase gene (mnp) of the Pleurotus ostreatus mutants induced by gamma radiation (Co$\^$60/) give evidence to prove the effect of gamma radiation on the gene. mnp of each mutant was cloned, sequenced and analyzed. Among the 1941 base pairs of the sequenced region of the mnP genes of 4 mutants (PO-5,-6,-15 and -16), nine mutational hotspots on which the same base was mutated simultaneously were found, additionally 6 mutations were also found at different positions in the mnp gene. These mutation-spectra were predominantly A:T\longrightarrowG:C transitions (50.1%). By the analysis of putative amino acid sequences, PO-5 and PO-16 mutants have 3 and 1 mutated residues, respectively. Since the mutational spectra reported herein are specific to the mnp gene, we propose that the mutational hotspots for the gamma radiation could be in the gene(5) within cells.

Diplophonia in Mutational Falsetto : Acoustic Characteristics and Treatment -A Case Report- (이중음성을 보인 변성발성장애 환자 음성의 음향학적 특성 및 치험례 -증 례 보 고-)

  • Lee, Jae-Yol;Lee, Sung-Eun;Lee, Sung-Eun;Choi, Hong-Shik
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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    • v.15 no.1
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    • pp.47-51
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    • 2004
  • Normally, as a result of increased laryngeal growth, the male voice drops about one octave in pitch level during adolescence. Failure of the voice to drop in pitch is consider to be a clinically significant voice disorder - 'mutational dysphonia'. The aim of this article is to evaluate the changes brought about by voice therapy, using the analysis of the EGG measure from Lx Speech Studio program(Laryngograph Ltd, UK) as well as acoustic, and aerodynamic studies in 18-year-old mutational dysphonia patient. The results from the Lx Speech Studio program demonstrated bimodal distribution of DFx(Hz), DQx(%), QxFx and diplophonic characteristic. After voice therapy combined with manual compression method, the distribution of DFx, DQx, QxFx was changed uniform with a dramatic reduction of higher pitch level. In addition, this finding suggests the EGG measure helps to choice treatment options, monitor the efficacy of therapy, and estimate the prognosis of diseases.

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Codon Usage Patterns of Tyrosinase Genes in Clonorchis sinensis

  • Bae, Young-An
    • Parasites, Hosts and Diseases
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    • v.55 no.2
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    • pp.175-183
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    • 2017
  • Codon usage bias (CUB) is a unique property of genomes and has contributed to the better understanding of the molecular features and the evolution processes of particular gene. In this study, genetic indices associated with CUB, including relative synonymous codon usage and effective numbers of codons, as well as the nucleotide composition, were investigated in the Clonorchis sinensis tyrosinase genes and their platyhelminth orthologs, which play an important role in the eggshell formation. The relative synonymous codon usage patterns substantially differed among tyrosinase genes examined. In a neutrality analysis, the correlation between $GC_{12}$ and $GC_3$ was statistically significant, and the regression line had a relatively gradual slope (0.218). NC-plot, i.e., $GC_3$ vs effective number of codons (ENC), showed that most of the tyrosinase genes were below the expected curve. The codon adaptation index (CAI) values of the platyhelminth tyrosinases had a narrow distribution between 0.685/0.714 and 0.797/0.837, and were negatively correlated with their ENC. Taken together, these results suggested that CUB in the tyrosinase genes seemed to be basically governed by selection pressures rather than mutational bias, although the latter factor provided an additional force in shaping CUB of the C. sinensis and Opisthorchis viverrini genes. It was also apparent that the equilibrium point between selection pressure and mutational bias is much more inclined to selection pressure in highly expressed C. sinensis genes, than in poorly expressed genes.

Acoustic Characteristics on the Adolescent Period Aged from 16 to 18 Years (16~18세 청소년기 음성의 음향음성학적 특성)

  • Ko, Hye-Ju;Kang, Min-Jae;Kwon, Hyuk-Jae;Choi, Yaelin;Lee, Mi-Geum;Choi, Hong-Shik
    • Phonetics and Speech Sciences
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    • v.5 no.1
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    • pp.81-90
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    • 2013
  • During adolescence the mutational period is characterized by the changes in the laryngeal structure, the length of the vocal cords, and a tone of voice. Usually, adolescents at 15 or 16 reach the voice of adults but the mutational period is sometimes delayed. Therefore, studies on the voice of adolescents between 16 ~ 18 right after the mutational period are required. Accordingly, this paper attempted to provide basic data about the normal standard for patients with voice disorders during this period by evaluating the vocal characteristics of males and females between 16 ~ 18 with an objective device bycomparing and analyzing them by sex and age. The study was conducted on a total of 60 subjects composed of each 10 subjects of each age. The vocal analysis was conducted by MPT (Maximum Phonation Time) measurement, sustained vowels and sentence reading. As for /a/ sustained vowels, fundamental frequency, hereinafter referred to as $F_0$, jitter, shimmer, noise-to-harmonic ratio, hereinafter referred to as NHR were measured by using the Multi-dimensional voice program (MDVP) among the Multi-Speech program of Computerized Speech Lab (Kay Elemetrics). The sentence reading, mean $F_0$, maximum $F_0$ and minimum $F_0$ were measured using the Real-Time Pitch (RTP) Model 5121 among the Multi-Speech program of Computerized Speech Lab (Kay Elemetrics). As a result, according to sex, there were statistically significant differences in $F_0$, jitter, shimmer, mean $F_0$, maximum $F_0$, and minimum $F_0$; and according to age, there were statistically significant differences in MPT. In conclusion, the voice of the adolescents between 16 ~ 18 reached the maturity levels of adults but the voice quality which can be considered on the scale of voice disorders showed transition to the voice of an adult during the mutational period.

JAK-2 V617F Mutational Analysis in Primary Idiopathic Myelofibrosis: Experience from Southern Pakistan

  • Sultan, Sadia;Irfan, Syed Mohammed
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.17
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    • pp.7889-7892
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    • 2015
  • Background: Primary idiopathic myelofibrosis (PMF) is a clonal Ph-chromosome negative myeloproliferative neoplasm characterized by dysregulated kinase signaling and release of abnormal cytokines. In the recent past, following JAK2 V617F mutation invention, important revolution has been made in the molecular diagnostic biology of this disease. The rational of this study was to determine the mutational status of JAK2 V617F in Pakistan patients with PMF. Materials and Methods: In this cross sectional study, 20 patients with PMF were enrolled from January 2011 to December 2014. Diagnosis was based on WHO criteria for PMF. All patients were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by allele specific PCR. Results: The mean age was $57.9{\pm}16.5years$. The male to female ratio was 3:1. The frequency of JAK2 V617F positivity in our PMF patients was found to be 55%. Positive correlations of JAK2 V617F mutation were established with high TLC count, raised LDH and marked splenomegaly (P<0.05). No correlation of JAK2 V617F could be established with age and gender (P>0.05). Conclusions: The JAK2 V617F mutation frequency in our PMF patients was similar to those reported previously. In our hands JAK2 V617F mutated patients expressed an aggressive disease phenotype. Screening for the mutation in all suspected PMF cases could be beneficial in differentiating patients with reactive and clonal marrow fibrosis.