• Phonetics and Speech Sciences
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• v.11 no.3
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• pp.69-76
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• 2019

This study aimed to investigate the effects of vocal aerobic treatment (VAT) on the improvement of voice in patients with voice disorders. Twenty patients (13 males, 7 females) were diagnosed with voice disorders on the basis of videostroboscopy and voice evaluations. Acoustic evaluation was performed with the Multidimensional voice program (MDVP) and Voice Range Profile (VRP) of Computerized Speech Lab (CSL), and aerodynamic evaluation with PAS (Phonatory Aerodynamic System). The changes in F0, Jitter, Shimmer, and NHR before and after treatment were measured by MDVP. F0 range and Energy range were measured with VRP before and after treatment, and the changes in Expiratory Volume (FVC), Phonation Time (PHOT), Mean Expiratory Airflow (MEAF), Mean Peak Air Pressure (MPAP), and Aerodynamic Efficiency (AEFF) with PAS. Videostroboscopy was performed to evaluate the regularity, symmetry, mucosal wave, and amplitude changes of both vocal cords before and after treatment. Voice therapy was performed once a week for each patient using the VAT program in a holistic voice therapy approach. The average number of treatments per patient was 6.5. In the MDVP, Jitter, Shimmer, and NHR showed statistically significant decreases (p < .001, p < .01, p < .05). VRP results showed that Hz and semitones in the frequency range improved significantly after treatment (p < .01, p < .05), as did PAS, FVC, and PHOT (p < .01, p < .001). The results for videostroboscopy, functional voice disorder, laryngopharyngeal reflux, and benign vocal fold lesions were normal. Thus, the VAT program was found to be effective in improving the acoustic and aerodynamic aspects of the voice of patients with voice disorders. In future studies, the effect of VAT on the same group of voice disorders should be studied. It is also necessary to investigate subjective voice improvement and objective voice improvement. Furthermore, it is necessary to examine the effects of VAT in professional voice users.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.1-11
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• 2019

Purpose: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in South Korea during the period from January 1991 to March 2004. Methods: Central data from each city branch of SCL (Seoul Clinical Reference Laboratories) in Yongin, South Korea, was gathered and collectively analyzed. Newborn screening (NBS) for CH was based on measuring the levels of neonatal thyroid stimulating hormone (TSH) and free T4 (a cut-off of 20 mIU/L and less than 0.8 ng/dL, respectively). Results: During the study period, 671,805 live births were screened for CH based on TSH and free T4 ELISA assays. A total of 159 newborns were deemed positive for CH out of 671,805, with a corresponding incidence of 1 in 4,225. When a cut-off of 20 mIU/L was used in TSH assays, the associated sensitivity, specificity, and positive predictive values (PPV) were 100.0%, 99.7%, and 10.8%, respectively. When a cut-off of 0.8 ng/dL in free T4 assays was used, the associated sensitivity, specificity, and PPV were 100.0%, 98.5%, and 3.9%, respectively. Conclusion: CH incidence in South Korea as evidenced by the results of NBS was compared with its incidence and comparable to the other countries prior to 2004.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.18 no.2
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• pp.122-128
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• 2007

This study aims to analyze the voices of the patients with voice disorders including vocal fold paralysis, vocal fold cyst and vocal nodule/polyp in the aspect of acoustic phonetics. This study intends to collect subsidiary acoustic data in order to make a speech treatment and an standardization of vocal disorders. Subjects and Methods: The subjects of this study were 64 adult patients who underwent indirect laryngoscopy and laryngostroboscopy, and were diagnosed as vocal fold paralysis, vocal fold cyst or vocal nodule/polyp. Experimental group consisted of 20 patients who were diagnosed as vocal fold paralysis, 21 patients who were diagnosed as vocal fold cyst and had the average age of 42.0 $({\pm}10.03)$ ; and 23 patients who were diagnosed as vocal nodule/polyp and had the average age of 40.9 $({\pm}13.75)$. For the methodology of this study, the patients listed above were asked to sit in a comfortable position at intervals of 10cm apart from the patient's mouth and a microphone, and subsequently to phonate a vowel sound /e/ for the maximum phonation time with natural tone and vocal volume then the sound was directly inputted on a computer. During recording, sampling rate was set to 44,100Hz and the 1-second area corresponding to stable zone except the first and the last stage of waveform of the vowel sound /e/ vocalized by the individual patients was analyzed. Results: First, there was no statistically significant difference in jitter and shimmer between vocal fold paralysis and vocal fold cyst, while there was highly statistically significant difference in them between vocal fold paralysis and vocal nodule/polyp. Second, looking into the mean values obtained from NNE, HNR and SNR results associated with noise ratio, the disease showing the most abnormal characteristics was vocal fold paralysis, followed by cyst and nodule/polyp in order. For NNE, there was statistically significant difference between vocal nodule/polyp, and cyst or paralysis. In other words, it was found that the NNE of vocal nodule/polyp was weaker than that of cyst or paralysis. Similarly, HNR and SNR also showed the same characteristics; there was statistically significant difference between vocal fold paralysis and vocal fold cyst or nodule/polyp, and HNR and SNR values of vocal fold paralysis were lower than those of vocal fold cyst or nodule/polyp. Conclusion: For vocal fold paralysis, the abnormal values of acoustic parameters associated with frequency, amplitude and noise ratio were statistically significantly higher than those of vocal fold cyst and nodule/polyp. This finding suggests that the voices of the patients with vocal fold paralysis are the most severely injured due to less stability of vocal fold movement, asymmetry and incomplete glottic closure. In addition, there was no statistically significant difference in the acoustic parameters of tremor among vocal fold paralysis, vocal fold cyst and vocal nodule/polyp. Further studies need to ascertain reasonable acoustic parameters with various vocal disorders as well as to clarify the correlation between acoustics-based objective tools and subjective evaluations.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Journal of Chest Surgery
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• v.42 no.1
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• pp.72-78
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• 2009

Background: Mediastinal neurogenic tumors are generally benign lesions and they are ideal candidates for performing resection via video-assisted thoracoscopic surgery (VATS). However, benign neurogenic tumors at the thoracic apex present technical problems for the surgeon because of the limited exposure of the neurovascular structures, and the optimal way to surgically access these tumors is still a matter of debate. This study aims to clarify the feasibility and safety of the VATS approach for performing surgical resection of benign apical neurogenic tumors (ANT). Material and Method: From January 1996 to September 2008, 31 patients with benign ANT (15 males/16 females, mean age: 45 years, range: 8~73), were operated on by various surgical methods: 14 VATS, 10 lateral thoracotomies, 6 cervical or cervicothoracic incisions and 1 median sternotomy. 3 patients had associated von Recklinhausen's disease. The perioperative variables and complications were retrospectively reviewed according to the surgical approaches, and the surgical results of VATS were compared with those of the other invasive surgeries. Result: In the VATS group, the histologic diagnosis was schwannoma in 9 cases, neurofibroma in 4 cases and ganglioneuroma in 1 case, and the median tumor size was 4.3 cm (range: 1.2~7.0 cm). The operation time, amount of chest tube drainage and the postoperative stay in the VATS group were significantly less than that in the other invasive surgical group (p<0.05). No conversion thoracotomy was required. There were 2 cases of Hornor's syndrome and 2 brachial plexus neuropathies in the VATS group; there was 1 case of Honor's syndrome, 1 brachial plexus neuropathy, 1 vocal cord palsy and 2 non-neurologic complications in the invasive surgical group, and all the complications developed postoperatively. The operative method was an independent predictor for postoperative neuropathies in the VATS group (that is, non-enucleation of the tumor) (p=0.029). Conclusion: The VATS approach for treating benign ANT is a less invasive, safe and feasible method. Enucleation of the tumor during the VATS procedure may be an important technique to decrease the postoperative neurological complications.

• Journal of Chest Surgery
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• v.32 no.3
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• pp.255-261
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• 1999

Background: Atrial fibrillation is one of the most prevalent of all arrhythmias and in up to 79% of the patients with mitral valve disease. This study examined whether the atrial fibrillation that occur in patients with mitral valve operation could be eliminated by a concommitant maze operation without cryoablation. Material and Method: From May 1997 to April 1998, 14 patients with atrial fibrillation associated with mitral valve disease underwent Maze III operation without cryoablation. Preoperatively there were 6 men and 8 women with an average age of 46.2${\pm}$10.7 years. Eleven patients had mitral stenosis, and three had mitral insufficiency. The associated heart diseases were aortic valve disease in 4, tricuspid valve regurgitation in 1 and ASD in 2. Using transthoracic echocardiography, the mean left atrial diameters was 54.7${\pm}$5.3 mm and thrombi were found in the left atrium of 2 patients. Postoperatively the ratio between the peak speed of the early filling wave and that of the atrial contraction wave (A/E ratio) was determined from transmitral flow measurement. Operations were mitral valve replacement in 13 including 4 aortic valve replacements, 1 DeVega annuloplasty and 2 ASD closures. Maze III operation was performed in 1 patient. Result: Five patients (38%) had recurred atrial fibrillation, which was reversed with flecainide or amiodarone at the average time of postoperative 38.8${\pm}$23.5 days. Postoperative complications were postoperative transient junctional rhythm in 6, transient atrial fibrillation in 5, reoperation for bleeding in 3, postpericardiotomy syndrome(1), unilateral vocal cord palsy(1), postoperative psychosis(1), and myocardial infarction(1). Postoperatively A/E ratio was 0.43${\pm}$0.22 and A wave found in 9(64%) patients. 3 to 14 months postoperatively (average follow- up, 8.1 months), all of patients had normal sinus rhythm and 9(64%) patients had left atrial contraction and 11(79%) patients were not on a regimen of antiarrhythmic medication. Conclusion: We conclude that Maze III operation without cryoablation is an effective surgical treatment in atrial fibrillation associated with the mitral valve disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.16 no.1
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• pp.23-27
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• 2005

Background and Objectives : Voice disorders can cause problems in patients with benign vocal cord lesions emotionally, physically, economically and functionally. Neither subjective nor objective voice examinations can evaluate such factors adequately. The Voice Handicap Index (VHI) subjectively evaluates voice disorders in terms of physical, functional, emotional factors and measures the patient's perception of the impact of voice disorder. The purpose of this study is to evaluate the usefulness of VHI in the patients with benign vocal cord lesions. Materials and Method : The authors evaluated 37 patients who experienced laryngeal microsurgery for benign vocal cord lesions from september 2003 to August 2004. The VHI was used to measure the postoperative changes of the patient's perception and acoustic analysis and aerodynamic tests were also done. Statistical analysis was done using paired t-test and Pearson's correlation. Results : The VHI scores showed statistically significant reductions postoperatively. In acoustic analysis, jitter and shimmer had statistically significant reductions after surgery but noise-to-harmonics ratio did not. A statistically significant change in the average MFR and MPT perioperatively was found. The relationship between VHI and acoustic, aerodynamic analysis attained statistical significance. Conclusion : The VHI is a useful assessment tool to monitor the patient's self-perception of voice change after the surgery of benign vocal cord lesions. The VHI measurement, when combined with acoustic and aerodynamic analyses, will be helpful in comparing functional outcomes after voice surgery.