• Tuberculosis and Respiratory Diseases
• /
• 제66권4호
• /
• pp.314-318
• /
• 2009

저자들은 반복적인 코출혈이 있는 가족에서 폐동정맥기형이 있는 동생과 점막의 모세혈관확장증을 가진 형을 경험하고 희귀한 유전질환인 유전출혈모세혈관확장증의 가계도를 확인하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
• /
• 제15권1호
• /
• pp.20-23
• /
• 2018

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

• 지질동맥경화학회지
• /
• 제7권2호
• /
• pp.122-154
• /
• 2018

Familial hypercholesterolemia (FH) is typically associated with single gene mutation that is inherited by autosomal dominant manner. Due to high cardiovascular risk, aggressive discovery, diagnosis, and treatment of FH are critical. Although FH is being increasingly spotlighted, we do not have sufficient data on Korean patients with FH. Here, we present the content of symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis held in May 2018: 1) epidemiology, clinical diagnosis, Korean FH data, and regulation in Korea; 2) genes associated with FH, sequencing process in suspicious proband, cascade screening, and difficulty in genetic diagnosis in FH; 3) the importance of lipid-lowering therapy in FH, conventional and novel therapeutics for FH; 4) diagnosis of FH in children and adolescence, screening, and treatment of FH in children and adolescence; 5) history of FH studies in Korea, the structure and current status of FH registry of Korean Society of Lipid and Atherosclerosis; and 6) difficulty in diagnosis of heterozygous and homozygous FH, drug intolerance and achievement of treatment target. Discussion between speakers and panels were also added. We hope that this article is helpful for understanding FH and future studies performed in Korea.

• Journal of Genetic Medicine
• /
• 제15권2호
• /
• pp.102-106
• /
• 2018

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (-3.8 as a Korean standard deviation score [SDS]), the father 155 cm (-3.4 SDS), and the index case 96.2 cm (-2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.

• 치과방사선
• /
• 제22권2호
• /
• pp.215-219
• /
• 1992

The author ovserved a case of dentinogenesis imperfecta in a 8-year-old and a 9-year-old brother with complaints of abnormal morphologic changes of the teeth. 1. Clinically, yellowish brown colored teeth, fractured crown and numerous retained root tips of deciduous teeth with severe attrition were observed in the both deciduous and permanent dentitions. 2 Radiographically, small-sized teeth, partial or complete obliteration of the pulp chambers and pulp canals in the anterior teeth, partial obliteration of the pulp chambers and thin enamel in the permanent tooth germs were observed. 3. The familial history was their father has been lose his teeth early.

• 인문언어
• /
• 제2권2호
• /
• pp.321-347
• /
• 2002

The Russian language uses more words that imply collectivism than Western Indo-European languages. In Korean, the first-person plural pronouns are used more often than in Western languages. In this respect, Russian seems to stand closer to the latter, although typologically it belongs to the Indo-European family. The predominance of 'we' over 'I,' which took place in the history of the Russian language, had something to do with the Russian commune and the ecclesiastical and spiritual concept of 'sobornost' (equation omitted). A similarity between the Russian and the Korean nations lies in a collective way of life as compared to Western nations. The Russian concepts of (equation omitted) and (equation omitted) ('commune') have direct analogues in the Korean language. In all societies a commune involves a certain sense of collectivity, or spiritual unity of the people - 'sobornost' (equation omitted). Korean collectivity is more familial and moral in character, whereas Russian 'sobornost' is more spiritual. This has its direct reflection in Korean and Russian languages. One can say that a sort of a family version of Russian 'sobornost' takes place in Korean society.

• Journal of Chest Surgery
• /
• 제23권5호
• /
• pp.1027-1034
• /
• 1990

Pectus excavatum, commonest developmental anomaly of chest wall, is manifested by depression of the sternum and lower costal cartilages that is of surgical interest. From 1982 through 1990, fifteen patients have undergone surgery for treatment of pectus excavatum and treated by Ravitch operation: 5, Modified Ravitch operation; 4, Wada operation, 1 and Modified Wada operation, 5. There was familial history of pectus excavatum in 3 patients. Associated congenital anomaly were seen in 6 patients; scoliosis in 3 patients, right inguinal hernia in 1, polydactyly in 1 and patent ductus arteriosus in 1 patent. Postoperative minor complications were developed in 3 cases; pneumothorax, 2 cases; pleural effusion, 2 cases; wound infection and dehiscence, 1 cases; pressure sore due to strut malposition, 2 cases; flail chest and 2 cases; seroma. The incidence of the postoperative complications were more common in cases who were treated by metal strut, pin or other prosthetic materials for supporting the chest wall integrity than the standard corrective procedure. All cases have no recurrence of chest wall depression and operative death.

• 치과방사선
• /
• 제5권1호
• /
• pp.26-31
• /
• 1975

The author observed a rare case of fibrous dysplasia in 12years old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry at 3 years' duration in right maxilla-facial region. The serial radiograms has been taken and the nature of the ]esion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtaind the results as follows: 1. Fibrous dysplasia occured at 3 years of age in this case. 2. Familial tendency, traumatic history and endocrine. disturbances: were: not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching Tight zygomatic bone.

• Neonatal Medicine
• /
• 제18권1호
• /
• pp.6-13
• /
• 2011

All newborn infants with clinically significant bleeding should be evaluated for a hemostatic deficit. Medical history should include the following data: familial bleeding disorders, maternal illness and medication, age of bleeding onset, and prophylactic administration of vitamin K. The first essential step for evaluating bleeding neonates is determining whether the baby is sick or well. The physician should also evaluate the extent of the bleeding, features of bleeding lesions, and other abnormal findings from the physical examination. Skeletal anomalies may provide diagnostic clues. Depending on the clinical features and results of screening tests, other tests including coagulation factors may be useful for determining the diagnosis. All laboratory results must be considered in the context of age-related reference values. The platelet function analyzer provides a promising alternative to bleeding time. Fibrin degradation products and D-dimers are used for screening and specially testing fibrinolytic activity, respectively. The Apt test may help to rule out factors derived from maternal blood. Radiologic imaging studies are important because asymptomatic intracranial hemorrhages are common in neonates.

• 대한치과교정학회지
• /
• 제1권1호
• /
• pp.33-37
• /
• 1970

저자들은 III급 부정교합의 가족력이 있는 8세 6개월의 여아를 III급 부정교합의 초기상태에서 조기치료를 시도했고 계속적인 장치의 장착으로서 Growth spurts에 일어날수 있는 하악전돌증의 공적으로부터 이를 방어하고져 시도하였다. Growth spurts로 인한 하악전돌증의 방어를 효과적으로 하기위해서는 chin cap과 extraoral force의 이용도 적절하리라 생각한다.