• 대한수학회지
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• 제43권1호
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• pp.65-76
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• 2006

Let $\tau$ be a hereditary torsion theory and let p be a prime ideal of a commutative ring R. We study the existence of (minimal) $\tau-injective$ submodules of the injective hull of R/p.

• Clinical and Experimental Pediatrics
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• 제50권6호
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• pp.511-518
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• 2007

To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hereditary and acquired HA are described. The hereditary hemolytic anemia (HHA) can be classified according to the pathogenesis into three types : RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics, laboratory findings and molecular defects of these three types are presented briefly. In Korea, HHA due to the RBC membrane defect, hereditary spherocytosis had been reported often but HHA due to hemoglobinopathies and RBC enzymopathies had been thought to be relatively rare. With recent development in the molecular diagnosis, ${\beta}$ thalassemia, mostly heterozygote, G6PD and pyruvate kinase deficiency have been reported with gene characterization. If the patients with microcytic hypochromic anemia show unproportionally low MCV or MCH or refractory to the iron therapy, hemoglobin electrophoresis and gene analysis for thalassemia or other unstable hemoglobinopathies need to be done accordingly. The global movement of the population especially from the region prevalent of hemoglobinopathies or enzymopathies to Korea warrants considering broad spectrum of etiology for the diagnosis of HHA. Aquired HA resulting from extracellular factors such as autoimmune HA from warm antibody, cold agglutinin and paroxysmal cold hemoglobinuria as well as nonimmune HA are described briefly.

• 대한골관절종양학회지
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• 제10권2호
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• pp.138-141
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• 2004

골연골종은 수부에서는 매우 드문 질환이지만 유전성 다발성 외골종의 경우는 수지골, 특히 성장판 부위의 기저부에 빈번하게 발생하며 수지관절주위에 호발한다. 하지만 원위지골 원위부에 발생한 경우는 매우 드문 것으로 이에 대한 보고는 거의 없다. 저자들은 다발성 외골종의 가족력이 있는 10세 남아가 여러 관절 주위의 골성 종괴를 주소로 내원, 시행한 단순방사선 검사상 수부 원위지골의 원위부에 외골종이 관찰되어 이를 수술적 치료로 제거하고 문헌고찰과 함께 보고하고자 한다.

• 대한골관절종양학회지
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• 제1권1호
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• pp.60-67
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• 1995

It is difficult to manage the growing deformity of forearm bone caused by hereditary osteochondromatosis in children, because deformity and discrepancy of limb length is progressive. The are many treatment methods of these problems including excisio of osteochondroma, lengthening of ulna, shortening of radius, corrective osteotomy with or without lengthening apparatus. Among many treatment methods, we tried free vascularized epiphyseal transplantation with the proximal fibular epiphysis in 3 patients of hereditary osteochondromatosis for inducement of continuous bone growth and deformity correction. The average duration of follow up was 7 years and 1 month, the shortest duration being to 4 years and 5 months and the longest 10 years and 8 months. Serial radiologic and clinical evaluation were carried out during follow up and there were satisfactory length gain, deformity correction and improvement of adjacent joint motion in 2 cases. According to our follow up evaluation, free vascularized epiphyseal transplantation is valuable procedure in forearm deformity of hereditary osteochondromatosis although it needs skillful and experienced operative technique.

• 대한수학회지
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• 제48권3호
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• pp.599-626
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• 2011

Let T = (V,A) be a tournament. With every subset X of V is associated the subtournament T[X] = (X, A ${\cap}$ (X${\times}$X)) of T, induced by X. The dual of T, denoted by $T^*$, is the tournament obtained from T by reversing all its arcs. Given a tournament T' = (V,A') and a non-negative integer ${\kappa}$, T and T' are {$-{\kappa}$}-hemimorphic provided that for all X ${\subset}$ V, with ${\mid}X{\mid}$ = ${\kappa}$, T[V-X] and T'[V-X] or $T^*$[V-X] and T'[V-X] are isomorphic. The tournaments T and T' are said to be hereditarily hemimorphic if for all subset X of V, the subtournaments T[X] and T'[X] are hemimorphic. The purpose of this paper is to establish the hereditary hemimorphy of the {$-{\kappa}$}-hemimorphic tournaments on at least k + 7 vertices, for every ${\kappa}{\geq}5$.

• 종양간호연구
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• 제5권2호
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• pp.146-158
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• 2005

Purpose: This study was to obtain a understanding of breast cancer women with high risk for hereditary cancer syndrome. Method: A micro-ethnography was used, including participation observation, open-ended in-depth interviews. Results: Two major arguments were derived. First, When Korean women at high risk to hereditary breast cancer make a decision about whether to take a genetic test, they are strongly motivated by a desire to preserve close kinship bonds and "family love" among their siblings, parents and children. Second, Even after genetic risk assessment and counseling services, Korean women at high-risk for developing a hereditary breast cancer who have been informed that they are mutation carriers, still hold onto previous beliefs about cancer causation. Their cancer prevention strategies are constructed according to their unchanged perceptions and beliefs about cancer causation. Conclusion: More sensitive genetic counseling program needs to be developed. Referral programs and clinical services must be attentive to cultural values and beliefs otherwise cultural attitudes and practices toward genetic counseling will not change.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.179-182
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• 2009

BRCA1과 BRCA2 유전자 돌연변이는 상염색체 우성양상으로 유전되면서 유방암과 난소암 발생위험을 높이는 것으로 알려져 있다. BRCA1 유전자 돌연변이를 가진 사람은 70세까지 난소암이 발생할 평균 누적위험도가 39% 가량 되고, BRCA2의 경우는 11% 가량된다. 이외에도 린치 신드롬이라고도 불리는 유전성 비용종성 대장암의 경우에도 난소암의 위험도가 높아지는 것으로 알려져 있으나, 유전성 난소암의 90% 정도는 BRCA 유전자 돌연변이에 기인하는 것으로 생각된다. 본 증례는 난소암 및 다른 암의 가족력을 보이면서 난소암으로 진단된 한국 여성의 사례로 본인과 두 딸 중 한명에서 BRCA1 유전자 돌연변이가 발견된 경우로, 가족력과 유전자 검사에 근거한 유전성 난소암 고위험군의 식별과 관리의 중요성을 시사한다.

• 대한유전성대사질환학회지
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• 제4권1호
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• pp.13-17
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• 2004

저자들은 생후 28일된 발열, 간종대, 출혈성 경향, 구토, 잦은 보챔, 전신의 황달 증상을 보이던 환아를 MS-MS 이용한 신생아 대사 이상 검사와 혈중 아미노산 분석, 뇨중 유기산 분석을 통하여 hereditary tyrosinemia type I으로 진단하였다. 저 페닐알라닌/타이로신 식이와 NTBC 사용으로 국내 첫 타이로신혈증 I 치료 성공례를 경험하였다.

• 대한한방내과학회지
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• 제39권5호
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• pp.1023-1031
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• 2018

Objectives: The purpose of this study is to evaluate the effect of Korean medicine in a patient with sensory disturbance of the hands and feet diagnosed as hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Methods: A patient diagnosed with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) was treated with herbal medicine (Uchashinki-hwan-gami, Bosinji Granule, Ukgan-san-gami), acupuncture, moxibustion, and bee venom pharmacopuncture. Clinical improvements were evaluated using the numerical rating scale (NRS) and Toronto Clinical Neuropathy Score system (TCNSS). Results: Improvements in the total scores of NRS and TCNS were observed after Korean medicine treatments. NRS score decrease from 8 to 2, and TCNS score decreased from 10 to 7. Conclusion: Korean medicine treatment may be effective for sensory disturbance in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

• 한국임상수의학회지
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• 제32권2호
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• pp.209-211
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• 2015

5살 샴 고양이가 시력 저하를 주증으로 내원하였다. 안검사 상 양안 실명했으며, 동공 빛 반사는 양안 모두 저하되어 있었다. 전안부에는 이상 소견이 없었지만, 안저 검사에서 양안의 반사판 과반사와 망막 혈관 위축이 관찰되었다. 문진 상 점진적인 시력 소실을 보였으며, 신체 검사 상 감염이나 염증을 의심할만한 증거가 확인되지 않았으므로 이에 유전성 망막 변성으로 진단하였다. 이 증례는 한국 샴 고양이 집단에 유전성 망막 변성을 일으키는 유전자가 도입되었을 가능성을 시사하므로 번식에 있어 주의를 요한다.