Jumping translocations, a novel finding in chronic lymphocytic leukaemia.

A jumping translocation (JT) is a rare cytogenetic aberration that can occur in haematological malignancy. It involves the translocation of the same fragment of donor chromosome onto two or more recipient chromosomes, typically in different cells. In this study, we describe the first series of chronic lymphocytic leukaemia (CLL) patients with JTs reported to date. Following a review of 878 CLL patient karyotypes, we identified 26 patients (3%) with 97 JTs. The most commonly occurring breakpoint in these translocations was 17p11.2. Loss of TP53 was identified prior to or at the same time as JT in 23 of 26 patients (88%). All patients eventually developed a complex karyotype. All but one patient has required treatment for CLL, with estimated median time to treatment of 11·5 months. This study establishes JTs as a recurrent abnormality found in CLL patients with aggressive disease. JTs contribute to complex karyotypes and, in many cases, are involved in chromosomal rearrangements that result in loss of the tumour suppressor gene TP53.

A survey study of benefits and limitations of using CellaVision DM96 for peripheral blood differentials.

In most clinical laboratories, hematologists rely on the microscopic analysis of stained blood films to accurately classify cells, aiding in the diagnosis and monitoring of a variety of disorders and conditions. Use of the microscope, although considered the gold standard in performing white blood cell differentials, presents a variety of limitations Digital image technology can facilitate a variety of essential job functions in clinical hematology such as: consulting with colleagues, improving training, referencing an abnormal cell, and utilizing archived images for quality assurance and competency assessment. A questionnaire was developed to survey medical laboratory professionals about their perceptions regarding the benefits and limitations for using digital images in clinical hematology. The questionnaire was sent in March 2012 to an entire list of 81 current CellaVision DM96 (CellaVision AB, Sweden) consumers. A response rate of 46% was obtained. Background information on participants, 5-point Likert scale averages, percentage agreement (strongly agree and agree), and disagreement (strongly disagree and disagree) were calculated and analyzed. The benefits of using the CellaVision DM96 rated the strongest by respondents included: decreased eyestrain, consistency among patient results and advantages in training personnel. Respondents reported notable limitations as being: restrictions with accurately estimating platelets and red cell morphology. Digital image software is currently being utilized in preclinical and clinical hematology and offers potential benefits. With upgrades in slide scanning features and improved capabilities to view platelet and red cell morphology, a transition to digital image technology from the conventional method for performing peripheral blood cell differentials is possible.

Cryptogenic hepatitis: a case study in autoantibody negative autoimmune hepatitis.

A 76 year old white-female initially presented with signs and symptoms of acute hepatitis. While liver function tests were elevated, viral hepatitis and autoimmune hepatitis panels were negative. The patient was subsequently discharged on the 4th day of hospitalization when her condition appeared to stabilize. Four weeks later she was readmitted to the hospital, this time with signs and symptoms of acute liver failure with ascites, confusion, and jaundice. A liver biopsy was performed with pathology suggestive of an autoimmune etiology despite the negative autoimmune antibody panel. She was diagnosed with cryptogenic autoimmune hepatitis. The patient was placed on intravenous steroids and later oral prednisone that resulted in the resolution of the liver failure and disappearance of the encephalopathy along with a downward trend of the liver enzymes, bilirubin and the prothrombin time. One year later, the liver enzymes had normalized and the autoimmune disease remained in remission with maintenance medications consisting of low dose prednisone and azathioprine.

Homozygous sickle cell anemia and secondary complications: a case study.

A 26-year-old African-American male presented with chest and back pain, fatigue and a history of the following: homozygous sickle cell anemia, pain crises, stroke, hip replacement following avascular necrosis of the femoral head, priapism, chronic transfusions, iron overload, hypertension, migraine headaches, port infections, depression and type II diabetes.

Scholarly activities of the most productive CLS faculty and schools in the U.S.A.

OBJECTIVES: To assess the research and scholarship of the most productive clinical laboratory science faculty and schools in the United States. DESIGN: In 2008 a national study involving 106 college and university CLS programs was conducted to determine which faculty members were most productive in research activities. A questionnaire was sent electronically to all faculty (n=448) of 106 NAACLS accredited programs. Data from 275 respondents (61%), from 93 programs (89%) were analyzed. SETTING: The study took place at The Ohio State University with collaboration from the University of Minnesota. PARTICIPANTS: Clinical laboratory science faculty within a four-year university or college sponsoring a NAACLS-accredited CLS program, were invited to participate. MAIN OUTCOME MEASURES: To quantitate faculty scholarly productivity by point assessment, to assess the top 10% of faculty based on funding, publications, abstracts, presentations, books and chapters, and to identify the 15 highest ranking institutions in terms of their collective faculty research contributions. CONCLUSIONS: The top 10% of clinical laboratory science faculty (n=28) are performing almost 50% of scholarship in the profession, with major contributions in funding garnered and international presentations. These individuals also generally hold a doctorate, are full professors and tenured. Among the 15 highest ranked colleges and universities with CLS programs, and by cumulative faculty contributions, most are classified as research institutions.

Research and scholarship of clinical laboratory science faculty members.

OBJECTIVES: To describe the research and scholarly productivity of faculty in four-year college and university clinical laboratory science (CLS) programs. To identify hours spent in research, numbers of presentations and publications, and external funding. DESIGN: In 2008, a national study involving 106 college and university CLS programs was conducted to determine whether faculty were participating in research. A questionnaire, in electronic format, was distributed to 448 faculty members. Data from 2001 to 2008, and from 275 respondents (61% response) representing 93 of 106 (88%) CLS programs were analyzed. SETTING: The study took place at The Ohio State University with collaboration from the University of Minnesota. PARTICIPANTS: All CLS faculty within a four-year university or college sponsoring a NAACLS-accredited CLS program were invited to participate. MAIN OUTCOME MEASURES: To determine whether CLS faculty scholarly activities have been strengthened in the past decade. To quantitate scholarship productivity. To assess faculty perceptions of their employment environments. RESULTS: Data indicate that faculty who possess earned doctorates have higher levels of research productivity. While 52% of CLS faculty hold doctorates and 45% are tenured, 36% of all CLS faculty members have not published a research paper or abstract since 2001. On the other hand, 19% have published 11 or more times. CLS faculty were also awarded a total of $62 million in external funding, 83% from government sources. Teaching remains a primary responsibility of many faculty members. CONCLUSIONS: In the past decade, and generally speaking, CLS faculty have made some progress in scholarship including highest degree obtained, publications, presentations, and grantsmanship.

Consumer satisfaction to laboratory test interpretation by the ASCLS response team.

OBJECTIVE: To assess consumer satisfaction to responses to laboratory test interpretations as provided by the American Society for Clinical Laboratory Science (ASCLS) Consumer Response Team. Additional information studied included demographics, whether a response to the question was received, and the respective discipline related to the question. DESIGN: A computerized questionnaire was sent to 339 participants who had sent questions concerning laboratory test results to the ASCLS consumer website (www.ascls.org) in May 2007. A total of99 completed questionnaires (29.3%) provided usable data for analysis. SETTING: Participants answered the questionnaire via electronic mail and results were summarized in Zoomerang. PARTICIPANTS: Participants were national and international consumers who had sent a question regarding their laboratory results to the ASCLS website. Individuals were 18 years of age or older. Participation was voluntary and anonymous. MAIN OUTCOME MEASURES: Consumer satisfaction, measured by eleven satisfaction statements, with laboratory interpretations by the ASCLS Response Team averaged 4.0 on the five-point Likert scale: 1 = Strongly disagree to 5 = Strongly agree. Overall satisfaction of the website itself was 4.2 on the five-point Likert scale 1 = Poor to 5 = Excellent. RESULTS: The majority of respondents were female (71.1%) and ranged in age from 36-64 years (71.7%). Seventy-six percent of respondents reported they had received an answer to their laboratory test question. The most frequent disciplines for questions received were in chemistry, immunology, and hematology, respectively. CONCLUSIONS: This study indicates consumers of the ASCLS website were very satisfied with the clinical laboratory scientist volunteers' responses. The ASCLS Consumer Response Team model is contributing to the advancement of healthcare by providing this important service to the public.

A two-decades-long study of scholarship by clinical laboratory science faculty.

To compete successfully in academia, clinical laboratory science (CLS) faculty members must actively engage in research and scholarly activities. Without research, some CLS educators may experience difficulty in the promotion and tenure process or even find their educational programs threatened with closure. Thus began a national study, spanning the years 1985, 1996, and 2008: to compare CLS faculty demographics, their scholarship, and their perceptions of the research environment. Since 1985, faculty members with doctorates have increased from 26% to 52% and senior faculty at the rank of associate and full professors have improved from 38% to 54%. Over time, the data show CLS faculty are providing more refereed publications (in the 2008 study, 19% had 11 or more publications) and more presentations (in the 2008 study, 34% had 11 or more presentations). Grant monies garnered included $62 million in the latest study. On the other hand, there are more faculty in non-tenured track positions. In addition, in both the 1996 and 2008 studies, the average number of faculty per program remained the same (4), as did hours spent each week in teaching (22). For all three studies, faculty perceived the top two research environment characteristics the same: i.e., 1) research is important for promotion and tenure and 2) computer accessibility is present. The lowest ranked characteristic of the research environment for all these studies-time available for research.