LV reverse remodeling imparted by aortic valve replacement for severe aortic stenosis; is it durable? A cardiovascular MRI study <Emphasis Type="Italic">sponsored by the American Heart Association</Emphasis>

Background  

In patients with severe aortic stenosis (AS), long-term data tracking surgically induced effects of afterload reduction on reverse LV remodeling are not available. Echocardiographic data is available short term, but in limited fashion beyond one year. Cardiovascular MRI (CMR) offers the ability to serially track changes in LV metrics with small numbers due to its inherent high spatial resolution and low variability.     

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

PurposePrenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement.MethodsA blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequencing in 212 Down syndrome and 1484 matched euploid pregnancies. None had been previously tested. Primary testing occurred at a CLIA-certified commercial laboratory, with cross validation by a CLIA-certified university laboratory.ResultsDown syndrome detection rate was 98.6% (209/212), the false-positive rate was 0.20% (3/1471), and the testing failed in 13 pregnancies (0.8%); all were euploid. Before unblinding, the primary testing laboratory also reported multiple alternative interpretations. Adjusting chromosome 21 counts for guanine cytosine base content had the largest impact on improving performance.ConclusionWhen applied to high-risk pregnancies, measuring maternal plasma DNA detects nearly all cases of Down syndrome at a very low false-positive rate. This method can substantially reduce the need for invasive diagnostic procedures and attendant procedure-related fetal losses. Although implementation issues need to be addressed, the evidence supports introducing this testing on a clinical basis.     

Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing

In the field of oncology, clinical molecular diagnostics and biomarker discoveries are constantly advancing as the intricate molecular mechanisms that transform a normal cell into an aberrant state in concert with the dysregulation of alternative complementary pathways are increasingly understood. Progress in biomarker technology, coupled with the companion clinical diagnostic laboratory tests, continue to advance this field, where individualized and customized treatment appropriate for each individual patient define the standard of care. Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.     

Vaginal hysterectomy for the enlarged uterus

OBJECTIVE: To evaluate the effect of uterine weight on the perioperative outcomes of vaginal hysterectomy for benign gynecological conditions. MATERIALS AND METHODS: The medical records of 312 consecutive women who underwent vaginal hysterectomies for benign gynecological conditions without major pelvic reconstruction at Temple University Hospital between March 1994 and August 1999 were reviewed. 88 women with uterine weights > or =250 g were compared with 224 women with uterine weights <250 g. The risk of perioperative complications, operative time, perioperative hemoglobin change, length of postoperative hospital stay, and readmission were evaluated between the groups. RESULTS: Groups were similar with respect to age, parity, history of previous pelvic surgery and concurrent adnexal removal. Operative time was significantly increased for women with uteri weighing > or =250 g. Women with uterine weight > or =250 g had a higher risk for postoperative febrile morbidity. The risks of all other major complications, perioperative change in hemoglobin concentration, length of stay, and readmission risk were not statistically different between the groups (p < 0.05). CONCLUSIONS: Despite the increased postoperative febrile morbidity and prolonged operative time, women with uteri weighing > or =250 g who underwent vaginal hysterectomy were discharged from the hospital without any increase in other complications when compared to women with a smaller uterus.     

自体外周血干细胞经冠状动脉移植治疗急性心肌梗死：近期疗效随访

目的:观察经皮经腔冠状动脉内移植外周血干细胞治疗急性心肌梗死的可行性与近期临床疗效。方法:①实验对象:选取2003-11/2005-01辽宁省人民医院收治的急性心肌梗死患者70例,男56例,女14例,年龄(60±10)岁,体质量(73±11)kg,急性心肌梗死病程(5±2)d,均对本实验知情同意,实验方案经辽宁省人民医院伦理委员会批准。70例患者随机数字表法分为细胞移植组、常规治疗组,35例/组。两组基线资料基本相似。②实验方法:常规治疗组单纯给予药物治疗 冠状动脉造影术或支架植入术。细胞移植组在常规治疗的基础上应用粒细胞集落刺激因子皮下注射动员自体骨髓干细胞,连续5d,第6天经血细胞分离机分离采集外周血干细胞悬液57mL,经over the wire球囊导管中心腔注入梗死相关动脉,注入CD34细胞数量为(7.25±7.33)×107个。③实验评估:在外周血干细胞动员、采集及经冠状动脉回输过程中观察患者不良反应。于术前及术后6个月检查两组患者左室形态、心功能、室壁节段性运动积分的改变。结果:术后6个月,细胞移植组全部完成随访,常规治疗组23例完成随访。①手术前后超声心动图参数值的变化:与术前比较,术后6个月细胞移植组左室收缩末容积、室壁节段性运动积分指数均明显下降(P<0.05),左室射血分数显著升高(P<0.05)。术后6个月与常规治疗组比较,细胞移植组左室射血分数明显升高,室壁节段性运动积分指数显著降低,差异有显著性意义(P<0.05)。②安全性评估:外周血干细胞动员时不良反应占37.1%,分离和采集过程不良反应占15.3%,经冠状动脉内回输过程不良反应占20.0%。结论:经皮经腔冠状动脉移植自体外周血干细胞治疗急性心肌梗死,可在近期有效地减少心肌梗死缺血面积,减轻左室重构,改善心功能。     

Mesenchymal hamartoma of the liver: radiologic-pathologic correlation

Mesenchymal hamartoma of the liver (MHL) is an uncommon cystic mass of infancy that is a developmental anomaly rather than a neoplasm. Fourteen cases of MHL were retrospectively reviewed. Grossly, MHL is a solitary mass with cystic spaces of variable size. Patients are seen initially with painless progressive abdominal enlargement. On plain films, MHL appears as a large, noncalcified mass in the right upper quadrant. Scintigraphy is helpful in confirming its hepatic origin. Ultrasonography and computed tomography demonstrate a large multiloculated mass with considerable variation in the size of septa and cystic spaces. Angiographically, MHL is avascular or hypovascular. Recognition of these radiographic findings allows a correct diagnosis to be made in many cases. With resection, the prognosis is excellent.     

Acetabular protrusion in the Marfan syndrome

The Marfan syndrome is a genetic disorder of connective tissues resulting in ocular, cardiovascular, and musculoskeletal deformities. The authors reviewed 22 cases of Marfan syndrome. Forty-five percent (ten of 22) of the patients had acetabular protrusion, with one-half of these being unilateral and one-half bilateral. Scoliosis was associated with acetabular protrusion in 90% of cases (nine of ten). The authors conclude that acetabular protrusion is a common skeletal finding in the Marfan syndrome.