xeroderma pigmentosum

出典: meddic

色素性乾皮症

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/27 15:19:51」(JST)

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英文文献

  • The effect of XPD/ERCC2 Lys751Gln polymorphism on acute leukemia risk: A systematic review and meta-analysis.
  • Liu D1, Wu D1, Li H2, Dong M3.Author information 1Department of pharmacy, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China.2Department of Medical Oncology, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China.3Department of pharmacy, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang, China. Electronic address: mdhappy2006@hotmail.com.AbstractAIMS: Epidemiological studies have assessed the association between xeroderma pigmentosum group D (XPD) Lys751Gln and acute leukemia risk with conflicting results. We performed this meta-analysis to derive a more precise estimation of the relationship. Pooled odds ratio (OR) with 95% confidence interval (95% CI) was used to assess the strength of the association.
  • Gene.Gene.2014 Apr 1;538(2):209-216. doi: 10.1016/j.gene.2014.01.049. Epub 2014 Jan 28.
  • AIMS: Epidemiological studies have assessed the association between xeroderma pigmentosum group D (XPD) Lys751Gln and acute leukemia risk with conflicting results. We performed this meta-analysis to derive a more precise estimation of the relationship. Pooled odds ratio (OR) with 95% confidence inte
  • PMID 24486506
  • A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis.
  • Wei ZH1, Guo WH1, Wu J1, Suo WH1, Fu GH2.Author information 1Pathology Center, Shanghai First People's Hospital / Faculty of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China.2Pathology Center, Shanghai First People's Hospital / Faculty of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, PR China. Electronic address: fuguhu@263.net.AbstractXPF/ERCC1 endonuclease is required for DNA lesion repair. To assess effects of a C2169A nonsense mutation in XPF at position 2169 in gastric cancer tissues and cell lines, genomic DNA was extracted from blood samples of 488 cancer patients and 64 gastric tumors. The mutation was mapped using a TaqMan MGB probe. In addition, gastric cancer cell lines were transfected with mutated XPF to explore XPF/ERCC1 interaction, XPF degradation, and DNA repair by a comet assay. The C2169A mutation was not detected in 488 samples of blood genomic DNA, yet was found in 32 of 64 gastric cancer tissue samples (50.0%), resulting in a 194C-terminal amino acid loss in XPF protein and lower expression. Laser micro-dissection confirmed that this point mutation was not present in surrounding normal tissues from the same patients. The truncated form of XPF (tXPF) impaired interaction with ERCC1, was rapidly degraded via ubiquitination, and resulted in reduced DNA repair. In gastric cancers, the mutation was monoallelic, indicating that XPF is a haplo-insufficient DNA repair gene. As the C2169A mutation is closely associated with gastric carcinogenesis in the Chinese population, our findings shine light on it as a therapeutic target for early diagnosis and treatment of gastric cancer.
  • Gene.Gene.2014 Mar 10;537(2):238-44. doi: 10.1016/j.gene.2013.12.061. Epub 2014 Jan 8.
  • XPF/ERCC1 endonuclease is required for DNA lesion repair. To assess effects of a C2169A nonsense mutation in XPF at position 2169 in gastric cancer tissues and cell lines, genomic DNA was extracted from blood samples of 488 cancer patients and 64 gastric tumors. The mutation was mapped using a TaqMa
  • PMID 24412486
  • The Structure of Social Exchange in Self-help Support Groups: Development of a Measure.
  • Brown LD1, Tang X, Hollman RL.Author information 1University of Texas School of Public Health, 1101 N. Campbell, Room 409, El Paso, TX, 79902, USA, louis.d.brown@uth.tmc.edu.AbstractSelf-help support groups are indigenous community resources designed to help people manage a variety of personal challenges, from alcohol abuse to xeroderma pigmentosum. The social exchanges that occur during group meetings are central to understanding how people benefit from participation. This paper examines the different types of social exchange behaviors that occur during meetings, using two studies to develop empirically distinct scales that reliably measure theoretically important types of exchange. Resource theory informed the initial measurement development efforts. Exploratory factor analyses from the first study led to revisions in the factor structure of the social exchange scales. The revised measure captured the exchange of emotional support, experiential information, humor, unwanted behaviors, and exchanges outside meetings. Confirmatory factor analyses from a follow-up study with a different sample of self-help support groups provided good model fit, suggesting the revised structure accurately represented the data. Further, the scales demonstrated good convergent and discriminant validity with related constructs. Future research can use the scales to identify aspects of social exchange that are most important in improving health outcomes among self-help support group participants. Groups can use the scales in practice to celebrate strengths and address weaknesses in their social exchange dynamics.
  • American journal of community psychology.Am J Community Psychol.2014 Mar;53(1-2):83-95. doi: 10.1007/s10464-013-9621-3.
  • Self-help support groups are indigenous community resources designed to help people manage a variety of personal challenges, from alcohol abuse to xeroderma pigmentosum. The social exchanges that occur during group meetings are central to understanding how people benefit from participation. This pap
  • PMID 24398622

和文文献

  • 小児の湿疹・皮膚炎群および色素性乾皮症への低刺激性サンスクリーン剤の臨床的安全性評価
  • 鈴木 律子,安本 美奈子,福永 淳,錦織 千佳子,佐々木 りか子
  • 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 30(1), 31-36, 2011-02-28
  • NAID 10027866876
  • Simultaneous disruption of two DNA polymerases, Polη and Polζ, in Avian DT40 cells unmasks the role of Polη in cellular response to various DNA lesions.
  • Hirota Kouji,Sonoda Eiichiro,Kawamoto Takuo,Motegi Akira,Masutani Chikahide,Hanaoka Fumio,Szüts Dávid,Iwai Shigenori,Sale Julian E,Lehmann Alan,Takeda Shunichi
  • PLoS genetics 6(10), 2010-10
  • … We provide striking in vivo evidence of the cooperation between DNA polymerase η, which is mutated in the variant form of the cancer predisposition disorder xeroderma pigmentosum (XP-V), and DNA polymerase ζ by generating POLη(-/-)/POLζ(-/-) cells from the chicken DT40 cell line. …
  • NAID 120002661519

関連リンク

viele Informationen, Hilfsmittel rund um die seltene Krankheit Xeroderma pigmentosum (XP) oder auch Monscheinkrankheit. ... Xeroderma pigmentosum Zur Anmeldung Zur Anmeldung zum 8. XP-Treffen von Sonntag 3. November bis ...
Xeroderma pigmentosum. 134 likes · 0 talking about this. Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient. In ...

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★リンクテーブル★
リンク元毛細血管拡張性運動失調症」「ファンコニー貧血」「色素性乾皮症
拡張検索xeroderma pigmentosum group D protein」「xeroderma pigmentosum group A protein
関連記事xeroderma

毛細血管拡張性運動失調症」

  [★]

ataxia telangiectasia, AT
血管拡張性運動失調症毛細血管拡張性運動失調、[毛細血管拡張性小脳失調症]]、ルイ・バー症候群 ルイ・バール症候群 Louis-Bar症候群 Louis-Bar syndrome
免疫不全症候群脊髄小脳変性症小脳失調
[show details]

概念

  • ATM遺伝子の異常による
  • 副鼻腔肺感染症中枢神経障害毛細血管拡張
  • 結膜、耳介などの毛細血管拡張症、小脳失調症、免疫不全、悪性腫瘍の合併

遺伝

FAMILIAL CANCER SYNDROME
AR: DNA repair abnormalities
xeroderma pigmentosum
Fanconi's anemia
ataxia telangiectasia

病因

  • ATM遺伝子の異常
  • ATM蛋白は細胞周期制御、DNA調節に関与していると考えられ、欠損により(in vitroで?)放射線高感受性、細胞周期の異常、染色体脆弱性が認められる

病態

T細胞 B細胞 抗体      
IgM IgA IgE IgG
→↓(漸減) ↑(単量体)

症状

SPE.279
  • 神経症状:進行性の小脳失調
  • 血管:毛細血管拡張が3-6歳で出現
  • 感染症:肺炎、気管支炎、気管支拡張症などの呼吸器感染症が多い
  • 悪性腫瘍:原発性免疫不全症の中では本疾患で最多

検査

  • 血液生化学:AFP上昇
  • 免疫血清学検査:T細胞減少、IgA,IgE減少。IgG2,IgG4も減少
  • 細胞遺伝学的検査:放射線に対するDNA修復障害、染色体脆弱性(染色体切断症候群)  →  DNA、染色体を障害する治療、薬物投与は避ける

参考

  • 1. ATAXIA-TELANGIECTASIA MUTATED GENE; ATM - OMIM
[display]http://omim.org/entry/607585
  • 2. [charged] Ataxia-telangiectasia - uptodate [1]


ファンコニー貧血」

  [★]

Fanconi anemia Fanconi's anemia FA
ファンコニ貧血ファンコニ貧血症ファンコーニ貧血症Fanconi貧血ファンコニー貧血症ファンコニー貧血
ファンコーニ汎血球減少 Fanconi pancytopenia
再生不良性貧血染色体切断症候群
[show details]

概念

  • 先天性再生不良性貧血。
  • 進行性の汎血球減少と低身長、小頭症などの多発奇形や、皮膚の色素沈着、性器発育不全、白血病や各種の悪性腫瘍の易罹患傾向
  • 橈骨側の異常
  • (1)骨髄不全、(2)先天奇形、(3)皮膚の色素沈着、(4)低身長、(5)性腺機能不全を特徴とする常染色体劣性遺伝の疾患(PED.1122)
  • 貧血の発症は4-6歳。(医学事典)

病因

  • DNAの修復機構の異常により、細胞のアポトーシスが起こりやすくなるため

相補群による分類

  • FANCA
  • FANCB
  • FANCC
  • FANCD
  • FANCE
  • FANCF
  • FANCG
  • FANCX?

疫学

遺伝形式

FAMILIAL CANCER SYNDROME
AR: DNA repair abnormalities
xeroderma pigmentosum
Fanconi's anemia
ataxia telangiectasia

病変形成&病理

症状

  • 奇形:母指欠損、橈骨の欠損または低形成、側弯症、先天股脱。 第1指奇形など橈側の奇形や腎・泌尿器系の奇形が多い(PED.1122) → 奇形を伴わない症例はtren-Dameshe症候群
  • 身体:低身長
  • 頭部:小頭症、知能発達遅延(知能障害)、小眼球症、斜視
  • 皮膚:色素沈着、
  • 心臓:心奇形
  • 腎臓:腎の無形成、重複腎盂、馬蹄腎
  • 内分泌:下垂体不全
  • 血液:汎血球減少

合併症

  • 悪性腫瘍:骨髄異形成症、急性骨髄性白血病、扁平上皮癌。(PED.1122)

検査

染色体検査

染色体の脆弱に基づく
  • 染色体の断裂、ギャップ形成、娘染色体変換。(PED.1122)

診断

治療

  • 根治療法は同種骨髄移植

予後

  • 薬物療法に抵抗し、予後は不良
  • 半数が16歳までに死亡(医学時点)

鑑別診断

  • 共通点:自発的な染色体の断裂がみられる
  • 相違点:ファンコーニ貧血だけがdiepoxybutane(DEB)による遺伝子切断の増加が見られる


色素性乾皮症」

  [★]

xeroderma pigmentosum, XP
[[]]
  • first aid step1 2006 p.79,294

familial cancer syndromes(HIM.493)

FAMILIAL CANCER SYNDROME
AR: DNA repair abnormalities
xeroderma pigmentosum
Fanconi's anemia
ataxia telangiectasia


xeroderma pigmentosum group D protein」

  [★]

色素性乾皮症D群タンパク質

xeroderma pigmentosum group A protein」

  [★]

色素性乾皮症A群タンパク質

xeroderma」

  [★]

乾皮症

ichthyosisxerodermicxerosis

WordNet   license wordnet

「a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin」
xerodermia




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