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1.
Leuk Res ; 95: 106387, 2020 08.
Article in English | MEDLINE | ID: mdl-32535247

ABSTRACT

A relatively small subset of myeloid neoplasms involve rearrangements of cytoband 3q26.2. Such rearrangements are often in response to therapy and carry a poor prognosis. The ectopic expression of MECOM is the result of such translocations. To date, thirty-three t(3;8)(q26.2;q24) cases have been reported; we contribute two patients with confirmed MECOM and MYC rearrangements. Both patients presented with pancytopenia and were diagnosed with myelodysplastic/myeloproliferative disorders. In addition to translocation t(3;8), Patient 1 possessed a derivative chromosome 5, while Patient 2 possessed monosomy 7; neither patient's clonal abnormalities resolved in follow-up studies. Of the previous 33 cases, one exhibited 5q loss, while monosomy 7 was found in fifteen. These findings contribute to the small number of reported cases with t(3;8) translocations. We also speculate about the molecular mechanisms associated with this translocation.


Subject(s)
MDS1 and EVI1 Complex Locus Protein/genetics , Myelodysplastic-Myeloproliferative Diseases/genetics , Aged , Chromosome Deletion , Chromosomes, Human, Pair 5/genetics , Chromosomes, Human, Pair 7/genetics , Genes, myc/genetics , Humans , Male , Middle Aged , Translocation, Genetic
2.
BMJ Open ; 7(2): e014842, 2017 02 22.
Article in English | MEDLINE | ID: mdl-28228448

ABSTRACT

OBJECTIVES: We examined the role of discharge instructions in postoperative recovery for patients undergoing colorectal surgery and report themes related to patient perceptions of discharge instructions and postdischarge experience. DESIGN: Semistructured interviews were conducted as part of a formative evaluation of a Project Re-Engineered Discharge intervention adapted for surgical patients. SETTING: Michael E. DeBakey VA Medical Center, a tertiary referral centre in Houston, Texas. PARTICIPANTS: Twelve patients undergoing elective colorectal surgery. Interviews were conducted at the two-week postoperative appointment. RESULTS: Participants demonstrated understanding of the content in the discharge instructions. During the interviews, participants reported several positive roles for discharge instructions in their postdischarge care: a sense of security, a reminder of inhospital education, a living document and a source of empowerment. Despite these positive associations, participants reported that the instructions provided insufficient information to promote access to care that effectively addressed acute issues following discharge. Participants noted difficulty reaching providers after discharge, which resulted in the adoption of workarounds to overcome system barriers. CONCLUSIONS: Despite concerted efforts to provide patient-centred instructions, the discharge instructions did not provide enough context to effectively guide postdischarge interactions with the healthcare system. Insufficient information on how to access and communicate with the most appropriate personnel in the healthcare system is an important barrier to patients receiving high-quality postdischarge care. Tools and strategies from team training programmes, such as team strategies and tools to enhance performance and patient safety, could be adapted to include patients and provide them with structured methods for communicating with healthcare providers post discharge.


Subject(s)
Colorectal Surgery/psychology , Communication , Patient Discharge , Quality Assurance, Health Care/standards , Adult , Aged , Aged, 80 and over , Colorectal Surgery/rehabilitation , Elective Surgical Procedures , Female , Health Personnel/education , Humans , Interviews as Topic , Male , Middle Aged , Patient Safety , Qualitative Research , Tertiary Care Centers , Texas
3.
J Assoc Genet Technol ; 40(4): 219-22, 2014.
Article in English | MEDLINE | ID: mdl-26030416

ABSTRACT

BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most common leukemia in the United States. Metaphase-based cytogenetic tests, such as G-Band karyotyping, are among the most effective to detect CLL and provide significant prognostic information. However, the use of metaphase cytogenetics is currently problematic due to the low mitotic index of most CLL cells in vitro cultures. Even when metaphases can be generated in the presence of traditional B-cell mitogen LPS, the quality is often poor and aberrations escape detection. PURPOSE: We hypothesized that immuno-stimulatory interleukin-2(IL-2) plus cytosine-phosphodiester-guanine oligodeoxynucleotide (CpG ODN) can work as a novel B-cell mitogen to stimulate bone marrow cultures which result in a higher mitotic index than regular standard bone marrow cultures stimulated with LPS. This will increase the clonal chromosomal aberration detection rate in patients with CLL. METHODS: Bone marrow samples from CLL patients were divided and parallel cultures were set up using LPS and CpG Oligonucleotide/ IL-2 (IL-2/CpG) as mitogens, respectively. Mitotic index was read under the microscope blindly by three different readers (SQ, LV, RM). G-banding, and Spectral Karyotyping (SKY) were performed to confirm and compare abnormalities. RESULTS: The readings showed that mitotic index in IL-2/CpG stimulated bone marrow cultures was seven times higher than that of standard LPS bone marrow cultures with an average standard deviation of "0.92'" and CI of 95%, p less than 0.05. G-Banding and Spectral Karyotyping (SKY) showed the same abnormalities in IL-2/CpG found in LPS Bone marrow cultures. CONCLUSION: According to the results, IL-2/CpG cultures should be used in the cytogenetic lab for chromosomal analysis instead of LPS due to the higher mitotic index that helps in reducing false negative results. Further research should be done in order to lower false negative CLL detection results.

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