Henry Ford Hospital medical journal最新文献_第4页

Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2. 遗传性原发性皮肤地衣淀粉样变合并多发性2型内分泌瘤5家系临床特征分析。

Henry Ford Hospital medical journal Pub Date : 1992-01-01

M F Robinson, E J Furst, V Nunziata, M L Brandi, J P Ferrer, M J Martins Bugalho, G di Giovanni, R J Smith, D T Donovan, B R Alford

{"title":"Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2.","authors":"M F Robinson, E J Furst, V Nunziata, M L Brandi, J P Ferrer, M J Martins Bugalho, G di Giovanni, R J Smith, D T Donovan, B R Alford","doi":"","DOIUrl":"","url":null,"abstract":"The hereditary conditions of primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2 (MEN 2) are rare clinical entities. The initial reports of two families in which the two conditions coincided have led to the identification of at least eight additional families with this clinical syndrome. In this report we describe the clinical features in five of these eight families. The salient feature in these five families is the presence of unilateral (46%) or bilateral (64%) pruritic and lichenoid skin lesions located over the upper portion of the back. Family members describe these skin lesions as intermittently intensely pruritic leading to scratching and excoriation of the upper back region. The presence of MEN 2 has been documented in 97% of family members with this skin lesion, the one exception being a child who is at risk for development of MEN 2A in whom the diagnosis has not yet been made. Of family members who have MEN 2A, 27% do not have an identifiable skin lesion, although the skin lesion developed in one patient two years after a curative thyroidectomy for medullary thyroid carcinoma (MTC). Four of the five families have members with pheochromocytoma; one with five affected members has only MTC. The finding of this clinical syndrome in geographically diverse portions of the world and the lack of overlap with MEN 2A without the skin lesion suggest it is a distinct clinical variant of MEN 2A.","PeriodicalId":12988,"journal":{"name":"Henry Ford Hospital medical journal","volume":"40 3-4","pages":"249-52"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12534943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mineral metabolic effects of thyroidectomy and long-term outcomes in a family with MEN 2A. 甲状腺切除术对MEN 2A家族的矿物质代谢影响及长期预后

Henry Ford Hospital medical journal Pub Date : 1992-01-01

H G Bone, L J Deftos, W H Snyder, C Y Pak

引用次数: 0

Isolation of YAC clones from the pericentromeric region of chromosome 10 and development of new genetic markers linked to the multiple endocrine neoplasia type 2A gene. 从10号染色体周围中心区分离YAC克隆及与多发性内分泌瘤2A型基因相关的新遗传标记的建立。

Henry Ford Hospital medical journal Pub Date : 1992-01-01

T C Lairmore, J R Howe, S Dou, R Veile, J A Korte-Sarfaty, S A Wells, H Donis-Keller

{"title":"Isolation of YAC clones from the pericentromeric region of chromosome 10 and development of new genetic markers linked to the multiple endocrine neoplasia type 2A gene.","authors":"T C Lairmore, J R Howe, S Dou, R Veile, J A Korte-Sarfaty, S A Wells, H Donis-Keller","doi":"","DOIUrl":"","url":null,"abstract":"Genetic linkage mapping and contig assembly using yeast artificial chromosome (YAC) technology form the basis of our strategy to clone and define the genomic structure of the pericentromeric region of chromosome 10 containing the multiple endocrine neoplasia type 2A gene. Thus far YAC walks have been initiated from five chromosome 10 pericentromeric loci including RBP3, D10S94, RET, D10Z1, and FNRB. Long range pulsed-field gel electrophoresis maps are constructed from the YACs isolated to define clone overlaps and to identify putative CpG islands. Bidirectional YAC walks are continued by rescreening the YAC library with sequence-tagged site assays developed from end-clones. Several new restriction fragment length polymorphisms and simple sequence repeat polymorphism markers have been identified from the YAC clones. In particular, two highly informative (CA)n dinucleotide repeat markers, sTCL-1 from proximal chromosome 10p (16 alleles, PIC = 0.68) and sJRH-1 from the RBP3 locus (18 alleles, PIC = 0.88), provide useful reagents for a polymerase chain reaction-based predictive genetic test that can be performed rapidly from small amounts of DNA.","PeriodicalId":12988,"journal":{"name":"Henry Ford Hospital medical journal","volume":"40 3-4","pages":"210-4"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12535687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Medullary thyroid carcinoma: Australian experience with genetic testing. 甲状腺髓样癌:澳大利亚基因检测的经验。

Henry Ford Hospital medical journal Pub Date : 1992-01-01

J L Ward, V J Hyland, D S Andrew, D J Marsh, B G Robinson

引用次数: 0

The importance of screening for the MEN 1 syndrome: diagnostic results and clinical management. 筛查MEN 1综合征的重要性:诊断结果和临床管理。

Henry Ford Hospital medical journal Pub Date : 1992-01-01

C J Lips, H P Koppeschaar, M J Berends, J M Jansen-Schillhorn van Veen, A Struyvenberg, T J Van Vroonhoven

引用次数: 0

Surgical treatment of the endocrine pancreas and Zollinger-Ellison syndrome in the MEN 1 syndrome. 手术治疗内分泌胰腺和Zollinger-Ellison综合征在MEN 1综合征。

Henry Ford Hospital medical journal Pub Date : 1992-01-01

N W Thompson