• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.32-39
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• 2006

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.

• The Korean Journal of Pain
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• v.12 no.1
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• pp.140-143
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• 1999

Ramsay-Hunt syndrome is a related but more serious disorder caused by herpes zoster viral infection of the geniculate ganglion. It is characterized by unilateral painful vesicular rash of the uvula, palate, auricle, ear canal, and postauricular area, but it can extend into the facial tissues as well. Paralysis of the facial nerve is often seen, and there can be disequilibrium and hearing problems also. We experienced continuous cervical epidural block (CCEB) with intermittent stellate ganglion block is effective in Ramsay-Hunt syndrome. CCEB should be considered to the treatment of choice in Ramsay-Hunt syndrome.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.17 no.3
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• pp.88-94
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• 2004

Hemifacial spasm is painless uncommon disorder characterized by involuntary paroxysmal movement of one side face. In the treatment of hemifacial spasm, the Western operation or non-operation therapy has many side effect such as hearing loss, exudative otitis media, facial paralysis etc. So we studied mainly the effect of cause, treatment frequency, diseased part of 29 cases with hemifacial spasm for effective clicical application of oriental medicine. The results of study are as follow; 1. It shows more female patients than male patients, and mostly patients in their forties. 2. The diseased part is shown more on left side than right side, and the left side hemifacial spasm is cured more effective. 3. The causes of hemifacial spasm are mainly stress, ignorance, overwork, and the stress, a cold are more effective causes than ignorance in. 4. The disease period is mainly within six months, and that period is the most effective time. 5. The palpebral site is the most frequent site, ineffective site. 6. The effect go with the treatment frequency is not available. 7. There is a 55 percent improvement of 29 cases.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.58-61
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• 2011

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.711-715
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• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.31 no.2
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• pp.49-55
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• 2020

Evaluating the patient's voice before thyroidectomy is useful for the purpose of identifying patients with vocal cord paralysis without symptoms, identifying other patient's voice abnormalities, and whether it is related to voice disorders that may occur after surgery. Also voice evaluation after thyroid surgery is helpful in diagnosis, treatment, and rehabilitation and follow-up of voice disorders that occur without clear nerve damage after thyroidectomy. And it is helpful for rapid recovery through active early rehabilitation treatment for patients who complain of speech impairment without paralysis. In particular, neck exercise can improve the adhesion of the surgical site and increase the range of motion of the neck as well as improve subjective neck discomfort. In addition, hearing, voice and breathing functions should be improved, and voice hygiene education and counseling should be provided. Vocal cord injection is the first treatment option for unilateral vocal cord palsy. By establishing a protocol for voice disorders before and after thyroid surgery and providing appropriate treatment, the quality of life of patients can be improved.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.113-121
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• 2007

Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.

• International journal of advanced smart convergence
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• v.9 no.1
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• pp.54-62
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• 2020

According to the Ministry of Health and Welfare, "Status of Registered Persons with Disabilities", the number of people with disabilities is 2,494,460 as of 2015. The lowest rates of children with disabilities were intellectual disabilities (23%) and mental disorders (33.3%). The highest rates of screening were blindness (97%), heart failure (94.4%), and hearing impairment (92.7%). 65.2% of visually impaired people who have already had a disability at the time of marriage, and the remaining 34.8% can be thought to be the cause of high incidence of disability after marriage. 'SID (Seed in the Dark)' project was designed to recapture the visually impaired parent's desire for attachment and the space difficulties of the blind who want to be a normal parent to their children through a visual impairment of a father with 7-year-old daughter. Using Gear VR(Virtual Reality), the general public was able to feel the surroundings as if they had no vision and focused on the hearing. Especially, We expressed the sound wave visually and added the hilarious game element which grasps the terrain of the maze by sound wave like a 'blind person who perceives the surroundings by sound' and catches up with daughter. People with disabilities who are far from mental illness often have a form of family with children. The fact that the rate of childbirth is high means that there is relatively little problem in daily life. It is wondered that the rate of blindness among the visually impaired, which accounts for 10% of the total disabled, is the highest at 97%. This is because, in the case of the visually impaired, the obstacle is often caused by aging, accidents, or diseases due to inherited causes rather than the visual disorder. In particular, However, the fact that there is an obstacle in vision that accounts for 83% of the body's sensory organs causes other difficulties in the nursing process of children who are non-disabled. Parents do not know the face of child when their visual impairment is severe. Parents are extremely anxious about worry that they will be lost or abducted if their children are not by their side. And that the child recognizes the disability of his or her parents other than the other parents easily and takes it as a deficiency. Since visually impaired parents are mentally mature parents with non-disabled people, they may want their children not to feel deprived of their disability. The number of people with visual impairments has been increasing since 2001, and people with impairments often become disabled. In addition, there is much research on the problem of nondisabled parents who have children with disabilities, while there is relatively little interest and research on the problem of nondisabled child rearing of parents with disabilities.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.20 no.3
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• pp.169-180
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• 2007

Objective : This study was to explore the change of new outpatients in ophthalmology, otolaryngology, dermatology. Methods : We did stastical analysis about 4638 new outpatients who had visited the department of ophthalmology, otolaryngology, dermatology in Kyunghee oriental medicine center from January 1, 2004 to December 31, 2006 and had ophthalmologic, otologic, rhinologic, laryngologic and dermatologic diseases. Results : The results were as follows. 1. Distribution of ophthalmology, otology, rhinology, laryngology and dermatology classification in new outpatients was 44.74% in dermatology the most, 26.50% in rhinology, 14.45% in otology, 8.78% in ophthalmology, 5.54% in laryngology. In all classifications except ophthalmology, outpatients increased, but the proportion of outpatients increased the most in dermatology. 2. The proportion of the new outpatients in ophthalmology was 20.15% in 51-60 years old the most. And 36.61% in dry eye the most, next 27.03% in visual disorder, 10.07% in strabismus. The proportion of the new outpatients in ophthalmology in strabismus decreased by 43.93 percent point but in dry eye increased by 32.17 percent point. 3. The proportion of the new outpatients in otology was 24.94% in 61+ years old the most. And 64.03% in tinnitus, hearing loss the most, next 17.46% in vertigo, dizziness. By 17.36 percent point, it in tinnitus, hearing loss decreased. But in vertigo, dizziness increased by 14.91 percent point. 4. The proportion of the new outpatients in rhinology was 40.93% in 0-10 years old the most. And it increased by 20.08 percent point. 69.30% in rhinitis the most but it decreased by 17.70 percent point. But 32.59% in sinusitis, that means it increased by 14.41 percent point. 5. The proportion of the new outpatients in laryngology was 68.09% in female, 23.35% in 51-60 years old the most. And it was 29.96% in laryngopharyngitis, 19.07% in stomatitis, 14.40% in the diseases of tongue. 6. The proportion of the new outpatients in dermatology was 37.21% in 21-30 years old the most.And it was 22.93% in atopic dermatitis the most, next 14.77% in urticaria. That means it increased by 8.19 percent point. But the proportion of the new outpatients in dermatology decreaed in acne, pruritus. Conclusions : We could know that there had been many changes of new outpatients in ophthalmology, otolaryngology, dermatology