• 제목/요약/키워드: hereditary

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유전성 대장암 (Hereditary Colorectal Cancer)

  • 김덕우
    • Journal of Genetic Medicine
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    • 제7권1호
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    • pp.24-36
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    • 2010
  • 대장암은 우리나라에서 가장 급격하게 발생이 증가하는 암종의 하나로 유전성 대장암은 전체 대장암의 5-15%를 차지한다. 유전성 대장암은 크게 유전성 비용종증 대장암과 유전성 용종 증후군에서 발생하는 대장암으로 나눌 수 있고, 유전성 용종 증후군에는 가족성 용종증, 포이츠-예거증후군, 유년기 용종증, MYH 연관 용종증 등이 이에 해당한다. 유전성 대장암은 원인 유전자의 배선돌연변이에 기인하므로 산발성 대장암에 비하여 암이 조기 발생하고, 동시성 및 이시성 암이 흔하며, 대장 이외의 장기에도 종양을 비롯한 질병을 일으키는 특징이 있다. 유전성 대장암은 환자뿐 아니라 가족구성원에 대한 유전자 검사, 유전 상담, 조기 진단을 위한 정기검진이 매우 중요하며, 이러한 환자 및 가족구성원의 효율적 관리를 위한 유전성종양 등록소의 역할이 중요하다. 본 논문에서는 유전성 대장암에 해당하는 질환들의 임상적/유전적 특성, 치료, 유전자 검사 및 정기검진 프로그램에 대하여 고찰하고자 한다.

유전성 말초신경병의 유전학 (Genetics of Hereditary Peripheral Neuropathies)

  • 조선영;최병옥
    • Journal of Genetic Medicine
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    • 제6권1호
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    • pp.25-37
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    • 2009
  • 유전성 말초신경병은 유전운동감각신경병증, 유전운동신경병증, 유전감각신경병증으로 분류된다. 이들은 세부 아형들로 더 세분화된다. 여기서 우리는 유전성 말초신경병증의 분자적 진단과 치료적 전략에 관한 최근의 발견을 제시하고자 한다. 유전성 말초신경병증의 표현형과 연관된 유전자의 산물은 신경구조유지, 축삭의 수송, 신경신호 변환, 세포보전과 관계된 기능들에 중요하다. 유전성 말초신경병증의 분자적 기초의 수립과 관련 유전자들과 그들의 기능에 관한 연구는 이러한 신경퇴행성 질환들의 병리 생리학적 기전과 말초신경계의 기능 및 정상적 발달에 관련된 일련의 과정을 이해하는데 중요하다. 말초신경병의 병인에대한 이해와 이러한 접근은 미래에 보조적 그리고 치유적 치료들을 개발하는데 있어 유전성 말초신경병증의 환자들의 진단과 관리에 도움이 될 것이다.

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w-INJECTIVE MODULES AND w-SEMI-HEREDITARY RINGS

  • Wang, Fanggui;Kim, Hwankoo
    • 대한수학회지
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    • 제51권3호
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    • pp.509-525
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    • 2014
  • Let R be a commutative ring with identity. An R-module M is said to be w-projective if $Ext\frac{1}{R}$(M,N) is GV-torsion for any torsion-free w-module N. In this paper, we define a ring R to be w-semi-hereditary if every finite type ideal of R is w-projective. To characterize w-semi-hereditary rings, we introduce the concept of w-injective modules and study some basic properties of w-injective modules. Using these concepts, we show that R is w-semi-hereditary if and only if the total quotient ring T(R) of R is a von Neumann regular ring and $R_m$ is a valuation domain for any maximal w-ideal m of R. It is also shown that a connected ring R is w-semi-hereditary if and only if R is a Pr$\ddot{u}$fer v-multiplication domain.

유전성 암과 유전상담 (Hereditary cancer and genetic counseling)

  • 정승용
    • Journal of Genetic Medicine
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    • 제4권1호
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    • pp.15-21
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    • 2007
  • Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

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유전성 연축성 양하지 마비 환자에서의 족부 진행성 동적 첨내반족 -1예 보고- (Progressive Dynamic Equinovarus Deformity in Hereditary Spastic Paraplegia - A Case Report-)

  • 배서영;서인석
    • 대한족부족관절학회지
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    • 제8권1호
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    • pp.111-113
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    • 2004
  • In neurogenic equinovarus deformity, surgical intervention such as tendon transfer or osteotomy can be expected to improve symptoms. However, in rare cases of hereditary spastic paraplegia, the deformity and paralysis gradually progress. So limited operation and early post-operative rehabilitation are preferred to aggressive operation. We would like to report our clinical experience with one case of hereditary spastic paraplegia patient with reference review. A 40 year-old male, given tendon transfer of ankle and foot and tendo achilles lengthening 10 years ago, complained about aggravated spastic paraplegia which resulted in dynamic equinovarus and limited walking ability since his operation. Family history showed limited walking ability of his father with gradually progressing spastic paralysis and he was diagnosed as hereditary spastic paraplegia type I. We had performed a limited operation such as tendo achilles and tibialis posterior lengthening to induce plantigrade standing and walking with crutch. As a result, the patient was able to maintain a stabilized standing posture and walk after the operation. Hereditary spastic paraplegia presents with a progressive paralysis which limits rehabilitation after tendon transfer, and the symptoms can be aggravated. Therefore, considering potential hereditary neurogenic disorders in paients with equinovarus deformity and performing limited operative procedures seem to be important.

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Genes and SNPs Associated with Non-hereditary and Hereditary Colorectal Cancer

  • Nassiri, Mohammadreza;Kooshyar, Mohammad Mahdi;Roudbar, Zahra;Mahdavi, Morteza;Doosti, Mohammad
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권10호
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    • pp.5609-5614
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    • 2013
  • Background: Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering that the relationship between SNPs with diseases is a concern, many researchers believed that they offer valuable markers for identifying genes responsible for susceptibility to common diseases. In some cases, they are direct causes of human disease. One SNP can increase risk of cancer, but when considering the rate of overlap and frequency of DNA repair pathways, it might be expected that SNP alone cannot affect the final result of cancer, although several SNPs together can exert a significant influence. Therefore identification of these SNPs is very important. The most important loci which include mutations are: MLH1, MSH2, PMS2, APC, MUTYH, SMAD7, STK11, $XRCC_3$, $DNMT_1$, MTHFR, Exo1, $XRCC_1$ and VDR. Presence of SNPs in these genes decreases or increases risk of colorectal cancer. Materials and Methods: In this article we reviewed the Genes and SNPs associated with non-hereditary and hereditary of colorectal cancer that recently were reported from candidate gene y, meta-analysis and GWAS studies. Results: As with other cancers, colorectal cancer is associated with SNPs in gene loci. Generally, by exploring SNPs, it is feasible to predict the risk of developing colorectal cancer and thus establishing proper preventive measures. Conclusions: SNPs of genes associated with colorectal cancer can be used as a marker SNP panel as a potential tool for improving cancer diagnosis and treatment planning.

Full hereditary $C^{*}$-subalgebras of crossed products

  • Jeong, Ja A.
    • 대한수학회보
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    • 제30권2호
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    • pp.193-199
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    • 1993
  • A hereditary $C^{*}$-subalgebra B of a $C^{*}$-algebra A is said to be full if B is not contained in any proper closed two-sided ideal in A, so each hereditary $C^{*}$-subalgebra of a simple $C^{*}$-algebra is always full. It is well known that every $C^{*}$-algebra is strong Morita equivalent to its full hereditary $C^{*}$-subalgebra, but the strong Morita equivalence of a $C^{*}$-algebra A and its hereditary $C^{*}$-subalgebra B does not imply the fullness of B, ingeneral. We present the following lemma for our computational convenience in the course of the proof of the main theorem. Note that $L_{B}$, $L_{B}$$^{*}$ and $L_{B}$ $L_{B}$$^{*}$ are all .alpha.-invariant whenever B is .alpha.-invariant under the action .alpha. of G.a. of G.a. of G.a. of G.f G.

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Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice

  • Lee, Jae Hee;Moon, Kyung Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제17권4호
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    • pp.266-269
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    • 2014
  • Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

PULLBACKS OF 𝓒-HEREDITARY DOMAINS

  • Pu, Yongyan;Tang, Gaohua;Wang, Fanggui
    • 대한수학회보
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    • 제55권4호
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    • pp.1093-1101
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    • 2018
  • Let (RDTF, M) be a Milnor square. In this paper, it is proved that R is a ${\mathcal{C}}$-hereditary domain if and only if both D and T are ${\mathcal{C}}$-hereditary domains; R is an almost perfect domain if and only if D is a field and T is an almost perfect domain; R is a Matlis domain if and only if T is a Matlis domain. Furthermore, to give a negative answer to Lee, s question, we construct a counter example which is a C-hereditary domain R with $w.gl.dim(R)={\infty}$.