• Journal of Preventive Medicine and Public Health
• /
• v.9 no.1
• /
• pp.55-64
• /
• 1976

This paper presents the results of a survey for the causes of sensori-neural hearing impairment in Korea, The subjects were 1,676 children of total 2,928 enrolled in 16 Deaf Schools; two schools in each area of Seoul, Busan, Kyoungbook, Kyoungnam, Kyounggi and Chunbug, and each one in Chungnam, Chungbug, Chunnam and Jaeju. The data were collected by questionaire with 28 items distributed to their parents. The filling in the check lists were performed by their class teachers, interviewer, for 18 months from September, 1975 to february, 1976. The questionable or missed problems were reaffirmed. The results obtained were as follows. Most of the reasons, 78.5% were acquired characters that could be developed during pregnant period, the time of delivery and the time of after birth. The pure hereditary reasons except the cases complexed with one or two were only 11.3%. Those who could not be defined with any reasons were 10.2%. Among the acquired causes, 5.8% of total subjects were developed for pregnancy: 3.3%, during delivery; and 69.7%, after birth. In the pregnant period, the drug intoxications were 2.4% of total subjects, several diseases such as influenja, bleeding, surgical operation, venereal diseases and rubella etc. were about one percent, and the accompanied with some symptoms of pregnancy intoxication and traumatic events were 2.4%, During time, the cases with delayed rhythmical pain were 16 persons, the immaturities were 11, the asphyxial cases were nine, the errors of forceps delivery were seven, the cases of low body weight inspite of full term were four, the cases with cesarian section were three, the head injuries were two, and the accompanied with three kinds of above reasons were three. During after birth, the cases with acute communicable diseases were 35.4% of total subjects, the fever unknown origin were 16.1%, the chronic otitis media were 3.7%, the meningitis were 3.5%, the gastric and nutritional diseases were 3.5%, the drug intoxications were 4.8%, the blood diseases were 0.3% and the other causes were 2.2%. Here by acute communicable diseases, some importants were measle, 10.1% of total subjects; meningitis, 7.3%; convulsion with some reasons, 4.9%; poliomyelitis. 3.2%; encephalitis, 2.4%; and mumps, rubella, pertusis, scarlet fever, and small pox were somewhat played a role in. Among 59 cases with train diseases, 53 were concussion by the accidents, such as traffic and falling or sliping down etc., the cerebral paralysis and hydrocephalus were two, respectively. And the blood diseases were severe newjaundice in all five cases. If we were summarized with the above mentioned, most of the hearing impairments were introduced by the combined reasons with familial or hereditary factors and the acquired, than by a simple disease. Among the congenital or hereditary hearing impairments classified to now a day, we suppose that the many cases with the acquired causes during pregnancy, delivery and after birth were complexed. Subsequently, the maternal and child health should be more and more developed in our country, also.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.2
• /
• pp.62-67
• /
• 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 The Korean Society of Inherited Metabolic disease
• /
• v.23 no.1
• /
• pp.25-30
• /
• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Childhood Kidney Diseases
• /
• v.8 no.1
• /
• pp.18-25
• /
• 2004

Purpose : Alport syndrome is clinically characterized by hereditary progressive nephritis causing ESRD with irregular thickening of the GBM and sensory neural hearing loss. The mutations of type IV collagen gene(COL4A5) located on the long arm of X chromosome is considered responsible for most of the structural abnormalities in the GBM of Alport patients. Since no definite clinical prognostic predictor has been reported in the disease yet, we designed this study to evaluate the significance of genetic polymorphism of the angiotensin converting enzyme in children with Alport syndrome as a prognostic factor for disease progression. Methods : ACE I/D genotype were examined by PCR amplification of the genomic DNA in 12 patients with Alport syndrome and 12 of their family members. Alport patients were divided into two groups; the conservative group, those who had preserved renal function for more than 10 years of age, the early CRF group, those who had progressed to CRF within 10 years of age. Results : The mean age of onset was $3.45{\pm}2.4$ years in the conservative group, $4.4{\pm}1.2$ years in the early CRF group. Sex ratios were 5:3 and 2:1 in each group. Among 12 cases of patients, 4 cases were in early CRF group and their mean duration of onset to CRF was 4.5 yews(8.9 years of age). Eight patients(67%) were in the conservative group and they had normal renal function for more than 10 years of age(mean duration of renal preservation was 10.6 years). The incidence of II type ACE gene were in 25.0%(3 cases), ID type in 41.7%(5 cases), DD type in 33.3%(4 cases). There was no significant difference between Alport patient and normal control(II type 44.3%, ID type 40.9%, DD type 14.8%). The incidence of DD type of early CRF group were higher than that of the conservative group(75% vs 12.5%)(p<0.05). There was no difference in ACE gene polymorphism between normal Alport family members and control group. Conclusion : Even though there was no significant difference of ACE polymorphism between Alport patients and the normal control group, the incidence of DD type is significantly increased in early CRF group which means DD type of ACE polymorphism has a possibility of being a predictor for early progression to CRF in Alport patients.

• The Journal of Korean Medicine
• /
• v.15 no.2 s.28
• /
• pp.9-27
• /
• 1994

This study is to analyze of senile disease status and the social problem according to increased old ages, and then to find distributions of old man's diseases and health status efficiency of oriental-occidental contemporary health examination. And it is the first oriental-occidental contemporary health examination of old man performed by JeonJu Woosuk University Oriental Medicine Hospital and Woosuk-Clinic in nation. Methods The objects in this research are 641's old man of KimJe Gun's over 60's years performed medical examination at JeonJu Woosuk University Oriental- Mmedicine-Hospital and Woosuk-Clinic by oriental-occidental medical contemporary exam., from 1994, 24th June till 1994. 13th July. The 1st occident medical examination methods were consisted of chest x-ray check. blood and urine exam., measurement of blood pressure, visual power and audiometry. The Oriental medical examination methods were consisted of four diagnostics (望,聞,問,切), present illness. chief complaint, past history, families history, social history by question and SA Sang constitution test index. The results and conclusions The results and conclusions are the next: 1. In order of distribution. the athletic disease (75.8%),the digestive disease(43.4%), the circulatory disease(41.5%), the respiratory disease(22.3%), EENT disease(8.1%), the endocrinopathy(5.6%), and the genito-urinary disease(5.3%) are the results of the object about 641's old man, by the oriental-occidental medicine's contemporay exam. 2. Distribution of disease distiction are lumbago. gastritis and peptic ulcer. knee joint pain. heart disease. hypertension. chronic bronchitis. asthma. anemia. DM. Tbc. visual disturbance. CVA. etc in order. 3. Disease distribution according to age is almost high incident in 60-75years. Disease incidence is decreased except E.E.N.T disease in over 76years. 4. The relationships of disease and family history are: the 25.0% of CVA pts. has family history and the 11.6% of hypertension pts has family history. so they showed high relative family history. In addition the 5.6% of TBC pts. and the 2.6% of DM pts. have family history. 5. The relationships of disease and drinking are: Drinking proportion is the 36.4% in respiratory disease pts. the 34.7% in hypertension pts. the 33.3% in heart disease pts.. the 28.4% in digestive disease pts.. but because of no surveying drinking amount we can't know the absolut relationships of disease and drinking. 6. The relationships of Disease and smoking are: Smoking proportion is the 44.1% in respiratory disease pts.. the 38.0% in Heart disease pts.. the 29.8% in Hypertension pts.. but because of no surveying of smoking amount. we can't know the absolut relationships of disease and smoking. 7. Distribution of Sasang constitution is : Tae-eum-in 44.8%. So-yang-in 30.7%. So-eum-in 24.6%. Tae-yang-in 0.0%. And disease distribution of Sasang constitution distinction is ; Tae-eum-in has high incidence of circulation disease(50.0%) and respiratory disease(23.1%).So-yang-in has high incidence of athletics disease(77.7%) and EENT disease(12.2%), So-eum-in has high incidence of digestive disease(65.8%). 8. Distribution of abnormal result in occidental medical examination and oriental-occidental contemporal exam result is considerably different. This is the reason of needing oriental medicine exam, for characteristics of Senile. I think that the oriental-occidental contemporary examination in old man is much more effecient than only occident medical examination. This oriental-occidental contemporary examination has many defects because it is the first practice. To participate in the public health program efficiently. I think that we must improve lots of problems and present the model of the oriental-occidental contemporary examination and the project of oriental medicine's for public health.