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51.
Stuart K Roberts Joanne Mitchell Reynold Leung David Booth Steven Bollipo George Ostapowicz Andrew Sloss Geoffrey W McCaughan Gregory J Dore Alexander Thompson Darrell HG Crawford William Sievert Martin Weltman Wendy Cheng Jacob George Australian Liver Association Clinical Research Network 《Journal of gastroenterology and hepatology》2014,29(1):179-184
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The cardinal features of Kabuki (Niikawa-Kuroki) syndrome (KS) include characteristic facial dysmorphic features, mild to moderate mental deficiency, skeletal abnormalities, dermatoglyphic abnormalities, and postnatal growth retardation. We identified 8 patients with KS in a genetics clinic over the past 5 years. All were Caucasians, except for 2 who were of mixed Aboriginal and Caucasian descent. All had the facial gestalt, the dermatoglyphic abnormalities characteristic of the syndrome, and developmental delay. Dental abnormalities of permanent teeth were seen in all 8 cases; 6 had missing lower incisors. Five patients had uniquely abnormal upper incisor teeth shape; the upper incisors had a 'flat head' screwdriver-shaped appearance. Other dental abnormalities included missing lower lateral incisors, missing second premolars, and ectopic upper 6-year molars. We believe the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS. 相似文献
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Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene 总被引:2,自引:0,他引:2
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目的:应用超声骨密度/骨质量测量仪对东莞地区中老年非暴力性骨折患者进行检测,探讨各参数的变化规律及临床意义,并确立骨折的骨密度阈值。方法:①实验对象:选择2003-09/2006-08在东莞石龙人民医院进行超声骨密度测定的非暴力性骨折东莞地区中老年患者107例,男30例,女77例;同期同龄进行超声骨密度测定的无骨折求诊者392例,作为对照组,男83例,女309例。②实验分组:根据年龄分为3个时期:46~60岁为老年前期、61~75岁为老年期、76岁以上为高龄期,以及相应男女组及骨折与非骨折组。③实验方法:采用法国DMS公司UBIS5000型超声骨密度/骨质量测量仪对中老年非暴力性骨折者、无骨折就诊者进行超声骨密度测量。④实验评估:比较两组男女及不同年龄段超声振幅衰减平均值、超声传播速度、骨硬度指数、T值(代表患者测量值如超声振幅衰减平均值和20岁正常人的测量值之间的差异)、Z值(代表患者测量值如超声振幅衰减平均值和同龄正常人的测量值之间的差异)。结果:两组499例患者全部进入结果分析。①总体比较:男、女性骨折组与非骨折组比较,除超声传播速度差别无统计学意义外(P>0.05),其余指标(超声振幅衰减、骨硬度指数、T值、Z值)非骨折组高于骨折组(P<0.01)。②分年龄组比较:老年前期组与总体一致,老年组、高龄组主要指标无统计学意义。应用方差分析对女性骨折组各年龄组之间进行比较,除骨硬度指数外(P<0.05),其余指标差异无显著性;男性骨折组各年龄组之间比较得出与女性一样结果。③男性与女性骨折组比较:除T值男性组高于女性组外(P<0.01),其余指标(超声振幅衰减、超声传播速度、骨硬度指数、Z值)差异均无统计学意义。结论:①中老年人群骨质下降至一定程度(相应测量参数为骨折阈值)时容易发生脆性骨折。②致脆性骨折的骨质量条件与性别、年龄因素无明显相关性。③东莞地区步入老年期后不论男女骨质疏松现象相当普遍,是否会出现骨折关键在于有否外力作用,对其预防性诊断很有价值。 相似文献
57.
Moore SG; Gooding CA; Brasch RC; Ehman RL; Ringertz HG; Ablin AR; Matthay KK; Zoger S 《Radiology》1986,160(1):237-240
Magnetic resonance imaging of the lumbar spine was performed in 17 children with acute lymphocytic leukemia (ALL): eight with newly diagnosed ALL, four with ALL in relapse, and five with ALL in remission. Eleven age-matched children were also imaged as controls. The T1 and T2 relaxation times of the bone marrow in the lumbar spine were calculated for all the children. The T1 relaxation times of the bone marrow were as follows (mean +/- standard deviation): newly diagnosed ALL, 968 msec +/- 68; ALL in relapse, 765 msec +/- 19; ALL in remission, 404 msec +/- 135; and age-matched controls, 441 msec +/- 82. T1 relaxation time was statistically significant in differentiating children with newly diagnosed ALL from normal children and from children with ALL in remission. In addition, T1 may be useful in differentiating children with ALL in relapse from children with ALL in remission and from healthy children. T2 was not significantly different among the four groups. 相似文献
58.
HG MUKHOPADHYAY LS VOHRA AK SHARMA R SOLANKI PS REDDY GS CHOPRA P SUBHAS 《Medical Journal Armed Forces India》1999,55(1):9-12
Five percent of patients with liver secondaries from colorectal carcinoma are potentially resectable and several studies have demonstrated significantly improved survival following resection. Two hundred and ten patients operated for colorectal carcinoma were followed up. Computed tomography confirmed potentially resectable metastasis to the liver in 38. On exploration 18 patients who had 4 or less hepatic metastases and no extrahepatic disease, underwent resection of their secondaries. Fourteen were males and 4 females with a mean age of 43.5 (SD 13.6, range 18-72) years. Ten patients presented with synchronous liver metastasis and 8 had metachronous disease. There was no post-operative mortality. All 18 have been followed up. for a median period of 23.5 (range 12-38) months. Seven patients are alive and well with no evidence of recurrence at a median period of 28 months (survival 39%). Four are alive with local recurrence in the liver. Median time to recurrence was 22 months. Seven patients have died of disseminated disease. The disease free survival at 28 months is 39% and the overall survival 61%. A close follow-up protocol for all patient undergoing curative surgery for colorectal cancer is essential, if such patients are to be selected early.KEY WORDS: Colorectal cancer, Liver resection, Metastases 相似文献
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Clonal analysis of myelodysplastic syndromes: evidence of multipotent stem cell origin 总被引:6,自引:0,他引:6
Janssen JW; Buschle M; Layton M; Drexler HG; Lyons J; van den Berghe H; Heimpel H; Kubanek B; Kleihauer E; Mufti GJ 《Blood》1989,73(1):248-254
Restriction fragment length polymorphisms (RFLPs) of the X-chromosome genes hypoxanthine phosphoribosyl transferase (HPRT) and phosphoglycerate kinase (PGK) were studied in 34 female patients with primary myelodysplastic syndromes (MDS). Twelve patients (35%) were heterozygous at the HPRT or PGK loci for BamHI or BglI RFLPs, respectively. In eight patients showing PGK polymorphisms, clonality was determined by X-chromosome inactivation analysis. These included patients from different morphologic subtypes: four with refractory anemia (RA), two with RA and ring sideroblasts (RARS), one patient with RA with excess of blasts (RAEB), and one with chronic myelomonocytic leukemia (CMML). A monoclonal pattern of X-chromosome inactivation was observed in seven cases. In a further case characterized by bone marrow hypoplasia, peripheral blood (PB) leukocytes were polyclonal in origin. Following low-dose cytarabine therapy, reversion to polyclonal hematopoiesis was observed in a case of RAEB indicating the presence of residual normal hematopoietic stem cells with the capacity for marrow reconstitution. The clonal relation of lymphoid and granulocyte/monocyte lineages was studied directly in two cases of CMML exhibiting somatic mutations of N-ras or Ki-ras oncogenes. By selective oligonucleotide hybridization to ras gene sequences amplified in vitro by the polymerase chain reaction, a mutated ras allele was demonstrated in PB granulocytes, monocytes, and B and T lymphocytes of both patients. We conclude that MDS arise from a multipotent hematopoietic stem cell with the potential for myeloid and lymphoid differentiation. 相似文献