• Journal of Preventive Medicine and Public Health
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• v.9 no.1
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• pp.55-64
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• 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 Genetic Medicine
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• v.8 no.2
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• pp.119-124
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• 2011

Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

• Journal of Chest Surgery
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• v.39 no.3 s.260
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• pp.220-225
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• 2006

Background: Spontaneous pneumomediastinum is an uncommon, benign, self-limited disorders that usually occurs in young adults without any apparent precipitating factors or disease. The purpose of this study was to review our experience in dealing with this entity and describe a reasonable course of assessment and management. Material and Method: A retrospective case series was conducted to identify adults patients with SPM who were diagnosed and treated in a single institution between 2001 and 2005. Result: Fifteen patients were identified who included 14 men and 1 women with a mean age of 26 years. Presenting symptoms were chest pain in 12 patients ($80\%$), dyspnea in 5 patients ($33\%$), and throat discomfort in 4 patients ($26\%$). Two cases were associated with use of inhalational drugs and 3 cases were associated with exercise. The predisposing factors were asthma, excessive exercise, and vomiting in spontaneous pneumomediastinum. The physical findings were subcutaneous emphysema in 10 patients ($77\%$). Chest radiography and computerized tomography were the diagnostic methods in all cases with CT scan revealing six cases with associated pulmonary abnormalities. Esophagogram and flexible bronchoscopy were selectively used. Fifteen patients ($100\%$) were admitted to the hospital. Their mean hospital stay was 3 days. All patients were conservatively treated. In a follow-up of 3 years no complications or recurrences were observed. Conclusion: Most simple spontaneous pneumomediastinum cases were benign diseases and most of them ($77\%$) had shown typical chest pain, dyspnea and subcutaneous emphysema. Inhalational drug use was not a major cause of SPM; however, increased use of bronchoinhalers was a suspicious cause of SPM.

• Journal of Chest Surgery
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• v.42 no.6
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• pp.757-762
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• 2009

Background: Compression of the left common iliac vein by the overriding common iliac artery is frequently combined with acute deep vein thrombosis in patients with May-Thurner Syndrome. We evaluate the results of treatment with thrombolysis and thrombectomy followed by stenting in 34 patients with May-Thurner Syndrome combined with lower extremity deep venous thrombosis. Material and Method: The authors retrospectively reviewed the records of 34 patients (mean age: $65{\pm}14$ year old) who had undergone stent insertion for acute deep vein thrombosis that was caused by May-Thurner syndrome. After thrombectomy and thrombolysis, insertion of a wall stent and balloon angioplasty were performed to relieve the compression of the left common iliac vein. Urokinase at a rate of 80,000 to 120,000 U/hour was infused into the thrombosed vein via a multi-side hole thrombolysis catheter. A retrieval inferior vena cava (IVC) filter was placed to protect against pulmonary embolism in 30 patients (88%). Oral anticoagulation with warfarin was maintained for 3 months, and follow-up Multi Detector Computerized Tomography (MDCT) angiography was done at the date of the patients' hospital discharge and at the 6 months follow-up. Result: The symptoms of deep venous thrombosis disappeared in two patients (4%), and there was clinical improvement within 48 hours in twenty eight patients (82%), but there was no improvement in four patients (8%). The MDCT angiography at discharge showed no thrombus in 9 patients (26%) and partial thrombus in 21 (62%), whereas the follow-up MDCT at $6.4{\pm}5.5$ months (32 patients) revealed no thrombus in 23 patients (72%), and partial thrombus in 9 patients (26%). Two patients (6%) had recurrence of DVT, so they underwent retreatment. Conclusion: Stent insertion with catheter-directed thrombolysis and thrombectomy is an effective treatment for May-Thurner syndrome combined with acute deep vein thrombosis in the lower extremity.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.5 no.2
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• pp.158-165
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• 2002

Purpose: We designed this retrospective study to establish the incidence of diagnosic delay in children diagnosed with acute appendicitis and to identify associated factors with delayed diagnosis and its impact on the clinical course. Methods: All cases of children under 15 years of age who underwent appendectomy from 1996 to 2001 at Gangneung Asan Hospital were reviewed. We reviewed signs and symptoms, type of health professional first contacted, the advice given by the health professional and a history of appendicitis in first degree relatives. Diagnostic period is the time elapsed between first complaints and definitive diagnosis. Delay was defined as diagnostic period exceeded the 48 hours. Postoperative course and complications were also reviewed. Results: Incidence of diagnostic delay differed by whether diarrhea and fecalith on X-ray were present. Also children whose parents were advised to observe them at home were more likely to have a diagnostic delay. In almost half of the cases in delayed group, initial diagnosis was not acute appendicitis but gastroenteritis. The perforation rate in non-delayed group was 22%, whereas 87% in delayed group. The delayed group showed a higher number of postoperative complication and a longer hospitalization period. Conclusions: Diarrhea with abdominal pain and fever in children should not be dismissed as gastroenteritis, respiratory infections or other common disorders. Our study suggests that physicians have a responsibility to prevent diagnostic delay and resultant perforation of acute appendicitis in children by having a high index of suspicion about acute appendicitis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of agricultural medicine and community health
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• v.43 no.4
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• pp.258-269
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• 2018

Objectives: There was an outbreak of foodborne and waterborne disease among high school students at Okcheon in June, 2018. First attack occurred June $5^{th}$ but seven days later it was notified. The purpose of this investigation was to evaluate the pathogen of outbreak and cause of delayed notification. Methods: First, we did a questionnaire survey for 61 cases and 122 controls to find what symptoms they had and whether they ate foods or drank water from June $2^{nd}$ to June $12^{th}$. Second, we investigated the environment of cafeteria and drinking water. Third, we examined specimen of cases and environment to identify bacteria or virus. Results: Attack rate of this outbreak was 7.8%. Drinking water was strongly suspected as a source of infection in questionnaire survey but we could not find the exact time of exposure. Norovirus was identified in specimen of cases (2 students), drinking water (at main building and dormitory) and cafeteria (knife, dishtowel, hand of chef) Conclusions: We decided norovirus as the pathogen of this outbreak based on the clinical features of cases with diarrhea vomiting, abdominal pain and recovery within 2 or 3 days after onset, outbreak due to drinking water and microbiologic examination, And the cause of delayed notification might be the non-existence of the nurse teacher at that time and the lack of understanding of teachers on immediate notification under the outbreak. To prevent the delayed notification, notification system about outbreak of foodborne and waterborne disease in school is needed to be improved.

• 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 Orthopaedic Association
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• v.55 no.1
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• pp.54-61
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• 2020

Purpose: Brown tumor is a tumor-like disease that can occur as a linked disease of hyperparathyroidism which can causes osteoporosis, osteitis fibrosa cystica, pathologic fractures. Brown tumor has been reported as a case report, but there is no comprehensive report on the exact diagnosis and principle of management for osseous lesion. The purpose of this study is to report the treatment and results of osseous lesions through 5 cases. Materials and Methods: From February 2004 to May 2015, five cases of Brown tumor were diagnosed in Chosun University Hospital and Chonnam National University Hospital orthopedic department. Medical records and radiographs were reviewed retrospectively. Parathyroid tumors were surgically removed, and surgical treatment and observation were performed for orthopedic osseous lesions. Results: The mean length of the long axis of the symptomatic osseous lesion was 6.2 cm (4.5-9.0 cm). An average of 7.6 (range, 3 to 14) of high uptake osseous lesion showed in whole body bone scan. The absolute value, T-score and Z-score of the vertebrae and proximal femur were adequate for diagnosis of osteoporosis using dual energy X-ray absorptiometry bone mineral density at diagnosis and recovered to normal at the last follow-up. In laboratory tests, serum concentrations of total calcium, ionized calcium, inorganic phosphorus, serum alkaline phosphatase, and parathyroid hormone were helpful to diagnosis and normalized upon successful removal of parathyroid adenoma or cancer. Conclusion: For accurate diagnosis of Brown tumor, it should be accompanied by systemic examination as well as clinical symptoms, laboratory tests and radiologic examination for osseous lesions. And a good prognosis can be expected if the hyperparathyroidism is treated together with the comprehensive treatment of osseous lesions.

• Molecules and Cells
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• v.45 no.12
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• pp.896-910
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• 2022

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a highly transmissible and potentially fatal virus. So far, most comprehensive analyses encompassing clinical and transcriptional manifestation have concentrated on the lungs. Here, we confirmed evident signs of viral infection in the lungs and spleen of SARS-CoV-2-infected K18-hACE2 mice, which replicate the phenotype and infection symptoms in hospitalized humans. Seven days post viral detection in organs, infected mice showed decreased vital signs, leading to death. Bronchopneumonia due to infiltration of leukocytes in the lungs and reduction in the spleen lymphocyte region were observed. Transcriptome profiling implicated the meticulous regulation of distress and recovery from cytokine-mediated immunity by distinct immune cell types in a time-dependent manner. In lungs, the chemokine-driven response to viral invasion was highly elevated at 2 days post infection (dpi). In late infection, diseased lungs, post the innate immune process, showed recovery signs. The spleen established an even more immediate line of defense than the lungs, and the cytokine expression profile dropped at 7 dpi. At 5 dpi, spleen samples diverged into two distinct groups with different transcriptome profile and pathophysiology. Inhibition of consecutive host cell viral entry and massive immunoglobulin production and proteolysis inhibition seemed that one group endeavored to survive, while the other group struggled with developmental regeneration against consistent viral intrusion through the replication cycle. Our results may contribute to improved understanding of the longitudinal response to viral infection and development of potential therapeutics for hospitalized patients affected by SARS-CoV-2.