Translocation t(17;18)(q10;q10): a new nonrandom chromosomal translocation of clonal evolution in chronic myeloid leukemia.
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Adult↗
Biomedical subjects
K Hayes
Publications and source records attributed to K Hayes.
Reliability of five methods for assessing shoulder range of motion.
In symptomatic subjects, the reliability of tests for shoulder joint range of motion has yet to be determined. For this reason, inter-rater and intra-rater agreement trials were undertaken to ascertain the reliability of visual estimation, goniometry, still photography, "stand and reach" and hand behind back reach for six different shoulder movements. Intra-class correlation coefficients (Rho) were derived by using a random effects model. For flexion, abduction and external rotation fair to good reliability was demonstrated for both trials using visual estimation (Inter-rater Rho = 0.57-0.70; Intra-rater Rho = 0.59-0.67), goniometry (Inter-rater Rho = 0.64-0.69; Intra-rater Rho = 0.53-0.65) and still photography (Inter-rater Rho = 0.62-0.73; Intra-rater Rho = 0.56-0.61). The tests had standard errors of measurement of between 14 and 25 degrees (inter-rater trial) and 11 and 23 degrees (intra-rater trial).
Adult↗
Spectral karyotyping study of chromosome abnormalities in human leukemia.
Chromosomal analysis plays an important role in the diagnosis, treatment and prognosis of human leukemia. Currently, the GTG-banding technique (G-banding) is the most commonly used diagnostic method in clinical cytogenetics. G-banding analysis of subtle chromosomal rearrangements or complex karyotypes with multiple markers can be inadequate because of poor chromosome morphology and/or an insufficient yield of analyzable metaphases. Fluorescence in situ hybridization (FISH) is a highly sensitive and specific method to detect chromosomal alterations. Conventional FISH is used optimally in instances where only one or a few abnormalities are investigated. Spectral karyotyping (SKY), a novel cytogenetic technique, has been developed to unambiguously display and identify all chromosomes at one time using a spectrum of 24 different colors. This report presents the use of SKY for examination of the entire karyotype in specimens with complex chromosomal abnormalities from three leukemia patients. Conventional cytogenetic analysis (G-banding) showed complex hyperdiploid clones with multiple markers in each case. SKY was able to clarify and identify additional cryptic chromosomal translocations [e.g., t(2;10), t(3;10), t(5;7), t(7;18), t(9;17), t(10;12), t(13;16)] insertions [e.g., ins(17;9), ins(20;Y)], duplications [e.g., i(8)(q10), dup(4)(q31q35)] and marker chromosomes in each case. This study demonstrates that the combination of SKY and G-band techniques results in a more complete characterization of the complex chromosomal aberrations seen in leukemia.
Bone Marrow Cells↗
Concurrent versus delayed smoking cessation treatment for persons in early alcohol recovery. A pilot study.
This pilot study investigated the efficacy of initiating a smoking cessation intervention early in inpatient treatment for alcohol dependence versus shortly after an inpatient stay. Thirty-six male smokers recruited from an inpatient substance abuse treatment program were randomly assigned to begin smoking cessation either two weeks (concurrent treatment) or six weeks (delayed treatment) after admission to the substance abuse program. Smoking cessation treatment involved three sessions of individual smoking cessation treatment plus eight weeks of transdermal nicotine replacement. Significantly fewer participants began the delayed treatment than the concurrent treatment. Few participants were smoking-abstinent at follow-up, and the timing of treatment onset did not have an impact on smoking outcome. Clinical trials with larger samples may be needed to better evaluate the efficacy of concurrent versus delayed treatment and to test the efficacy of more aggressive interventions with smokers in early alcohol recovery.
Alcoholism↗
Sexual dysfunction: a neglected complication of panic disorder and social phobia.
Little is known about sexual dysfunctions comorbid with anxiety disorder. The aim of this study is to evaluate retrospectively the sexual function of social phobic patients in comparison with a panic disorder sample. Using a semistructured interview (SCID-I), 30 patients with social phobia and 28 patients with panic disorder were examined. The DSM-IV criteria were employed to diagnose sexual dysfunctions in this sample; however, the "C" criterion, which states that "the sexual dysfunction cannot be related to other Axis I disorders," was excluded. Panic disorder patients reported a significantly greater proportion of sexual disorders compared with social phobics: 75% (21/28) vs. 33.3% (10/30) (p = .0034). Sexual aversion disorder was the most common sexual dysfunction in both male (35.7%; 5/14) and female (50%; 7/14) panic disorder patients, and premature ejaculation was the most common sexual dysfunction in male social phobic patients: 47.4% (9/19). These results suggest that sexual dysfunctions are frequent and neglected complications of social phobia and panic disorder.
Adult↗
Vitamin E in fortified cow milk uniquely enriches human plasma lipoproteins.
BACKGROUND: Milk fat may contribute to atherogenesis in humans. OBJECTIVE: We sought to offset the atherogenic potential of milk fat by adding polyunsaturated fat and vitamin E to milk. DESIGN: We measured plasma lipids, lipoproteins, and tocopherol and LDL oxidation in normolipemic adults. In experiment 1 (n = 48), we compared delivery of 100 mg all-rac-alpha-tocopheryl acetate/d in capsules, skim milk, and 1%-fat milks containing soybean oil, milk fat, or both (1:1). In experiment 2 (n = 24), we compared delivery of natural (RRR-alpha-tocopheryl acetate) and synthetic (all-rac-alpha-tocopheryl acetate) vitamin E in milk with delivery of all-rac-alpha-tocopheryl acetate in orange juice (200 mg/d in each group). In experiment 3 (n = 7), we compared delivery of 30 mg all-rac-alpha-tocopheryl acetate/d in milks with and without added vitamins A and D. RESULTS: Enrichment of milk fat with soybean oil did not alter plasma lipoproteins. Microdispersion of vitamin E in milks increased the molar ratio of plasma tocopherol to cholesterol by >2-fold compared with the molar ratio after consuming vitamin E capsules, whereas the molar ratios were comparable after ingestion of orange juice and capsules. Synthetic and natural vitamin E performed comparably. The enhanced plasma vitamin E:cholesterol attributed to milk increased protection of LDL against oxidation. Vitamins A and D did not affect vitamin E delivery by milk. CONCLUSIONS: Milk augments vitamin E transport by human lipoproteins at intakes of 100-200 but not 30 mg/d. This augmentation is independent of the presence and type of fat in milk, its vitamin A and D contents, and whether the vitamin E is natural or synthetic.
Adolescent↗
Evidence for extensive resistance gene transfer among Bacteroides spp. and among Bacteroides and other genera in the human colon.
Transfer of antibiotic resistance genes by conjugation is thought to play an important role in the spread of resistance. Yet virtually no information is available about the extent to which such horizontal transfers occur in natural settings. In this paper, we show that conjugal gene transfer has made a major contribution to increased antibiotic resistance in Bacteroides species, a numerically predominant group of human colonic bacteria. Over the past 3 decades, carriage of the tetracycline resistance gene, tetQ, has increased from about 30% to more than 80% of strains. Alleles of tetQ in different Bacteroides species, with one exception, were 96 to 100% identical at the DNA sequence level, as expected if horizontal gene transfer was responsible for their spread. Southern blot analyses showed further that transfer of tetQ was mediated by a conjugative transposon (CTn) of the CTnDOT type. Carriage of two erythromycin resistance genes, ermF and ermG, rose from <2 to 23% and accounted for about 70% of the total erythromycin resistances observed. Carriage of tetQ and the erm genes was the same in isolates taken from healthy people with no recent history of antibiotic use as in isolates obtained from patients with Bacteroides infections. This finding indicates that resistance transfer is occurring in the community and not just in clinical environments. The high percentage of strains that are carrying these resistance genes in people who are not taking antibiotics is consistent with the hypothesis that once acquired, these resistance genes are stably maintained in the absence of antibiotic selection. Six recently isolated strains carried ermB genes. Two were identical to erm(B)-P from Clostridium perfringens, and the other four had only one to three mismatches. The nine strains with ermG genes had DNA sequences that were more than 99% identical to the ermG of Bacillus sphaericus. Evidently, there is a genetic conduit open between gram-positive bacteria, including bacteria that only pass through the human colon, and the gram-negative Bacteroides species. Our results support the hypothesis that extensive gene transfer occurs among bacteria in the human colon, both within the genus Bacteroides and among Bacteroides species and gram-positive bacteria.
Anti-Bacterial Agents↗
Cytogenetic findings in lymphoplasmacytic lymphoma/Waldenström macroglobulinemia. Chromosomal abnormalities are associated with the polymorphous subtype and an aggressive clinical course.
We correlated bone marrow cytogenetic findings with morphologic and immunophenotypic data in 37 patients with lymphoplasmacytic lymphoma (LPL)/Waldenström macroglobulinemia (WM). Each LPL/WM case was classified as lymphoplasmacytoid (n = 18), lymphoplasmacytic (n = 10), or polymorphous (n = 9) using the Kiel criteria. Of 12 cases with chromosomal abnormalities, a single numeric abnormality was present in 4 and a complex karyotype in 8. The most common numeric abnormalities were and -8 in 3 cases each; the most common structural abnormality was del(6q) in 6 cases. Cytogenetic abnormalities were significantly less common in the lymphoplasmacytic and lymphoplasmacytoid groups (5/28 [18%]) compared with the polymorphous group (7/9 [78%]). Clinical follow-up was available for 28 patients for a median of 36 months. Six (67%) of 9 patients with aneuploid tumors, including 4 with polymorphous subtype, subsequently had clinical progression or developed high-grade lymphoma. In contrast, 4 (21%) of 19 patients with diploid tumors, including 1 of polymorphous type, developed clinical progression or high-grade lymphoma. We conclude that abnormal cytogenetic findings in LPL/WM correlate with the polymorphous subtype and poor prognosis.
Adult↗
Mature B-cell leukemias with more than 55% prolymphocytes. A heterogeneous group that includes an unusual variant of mantle cell lymphoma.
We studied 20 cases of mature B-cell leukemia with more than 55% prolymphocytes in peripheral blood or bone marrow, fulfilling the French-American-British criteria for B-cell prolymphocytic leukemia (PLL). Cases segregated into 3 groups: de novo PLL, 6; PLL occurring in patients with a previous well-established diagnosis of chronic lymphocytic leukemia (PLL-HxCLL), 10; and t(11;14)(q13;q32)-positive neoplasms, 4. All cases expressed monotypic immunoglobulin light chain, and most were positive for CD5. All t(11;14)-positive neoplasms were CD23- and uniquely positive for cyclin D1. Cytogenetic abnormalities were present in 19; in all 19, the karyotype was complex, indicating clonal evolution and genomic instability. The most frequent cytogenetic abnormality in de novo PLL involved chromosome 7 in 4 cases. Trisomy 12 or add(12p) was present in 4 cases of PLL-HxCLL. We conclude that mature B-cell leukemias with more than 55% prolymphocytes are a heterogeneous group that includes t(11;14)-positive neoplasms, which we suggest are best classified as mantle cell lymphoma. We also suggest that prolymphocytic morphologic features are a common end-stage of transformation for several B-cell neoplasms.
Aged↗
Advances in the management of traumatic anterior and atraumatic multidirectional shoulder instability.
Dislocation of the shoulder is a common and often disabling injury to an athlete. Most shoulder dislocations are traumatic in origin, occur in the anterior direction and result in stretching and detachment of the anterior capsule and labrum. The most frequent adverse sequel of shoulder dislocation is recurrence--an event that occurs most commonly in active individuals and less frequently with age. In the past, many operative procedures failed to address the anatomical disruptions of shoulder instability. Recently, an enhanced understanding of shoulder instability pathoanatomy and significant technological advances have resulted in surgical procedures for shoulder instability that are less interventional and have focused on restoring disrupted static constraints.
Humans↗
Shoulder instability. Diagnosis and management.
BACKGROUND: The shoulder is the most commonly dislocated joint in the body. The most frequent complication of shoulder dislocation is recurrence, occurring most often in young athletes. OBJECTIVE: To summarise the functional anatomy of the shoulder joint, the structures damaged following shoulder dislocation and the methods to evaluate and treat shoulder instability. DISCUSSION: Clinical history is effective for diagnosing obvious shoulder instability. The O'Brien's sign (for superior labral lesions), the sulcus sign (for capsular laxity) and the apprehension sign (for anterior instability) are helpful clinical tests for more subtle instabilities. Labral disruptions and capsular laxity can often be restored by minimally invasive (arthroscopic) methods. Rehabilitation aims to enhance the dynamic muscular and proprioceptive restraints to shoulder instability.
Exercise Therapy↗
Numeric chromosomal abnormalities in small lymphocytic and transformed large cell lymphomas detected by fluorescence in situ hybridization of fine-needle aspiration biopsies.
BACKGROUND: Chromosomal abnormalities in some lymphomas are associated with a poor prognosis. Trisomy 12 and deletions of chromosome 13 have been described in small lymphocytic lymphoma (SLL). To determine whether chromosomal aberrations could be detected by fluorescence in situ hybridization (FISH) on fine-needle aspiration biopsies (FNABs), we analyzed and compared specimens from seven patients with SLL and nine patients with a history of SLL that had transformed to large cell lymphoma. METHODS: DNA probes specific to chromosome 12 and the chromosome 13/RB-1 gene locus were used for in situ hybridization on interphase cell nuclei. The cytologic features, ploidy, proliferation index, and conventional cytogenetic analysis findings were correlated with the FISH results. RESULTS: Trisomy 12 was detected in 2 (29%) of the 7 cases of SLL and 2 (22%) of the 9 cases of transformed large cell lymphoma. Deletion of chromosome 13/RB-1 was present in 3 (43%) of 7 cases of SLL and 3 (33%) of 9 cases of transformed large cell lymphoma. CONCLUSIONS: This study showed that interphase cytogenetic analysis by FISH is feasible on FNAB specimens. Trisomy 12 and deletions of chromosome 13/RB-1 were present in some cases of SLL and transformed large cell lymphoma, and the presence of these chromosomal abnormalities did not correlate with transformation to a higher grade of lymphoma.
Adult↗
Enhanced detection of chromosomal abnormalities with the use of RxFISH multicolor banding technique.
Hematological disorders often have complex karyotypes with multiple markers. Proper assignment of chromosome number or aberration or both can be difficult. Specific identification of chromosomal abnormalities aids in the diagnosis and selection of treatment of patients. Fluorescence in situ hybridization (FISH) has been applied to the identification of translocations, markers, and other chromosomal abnormalities in clinical cytogenetics. However, the standard FISH technique is unable to detect the entire genome in a single experiment. This report presents the use of a cross-species comparative genomic hybridization color-banding technique (RxFISH) that permits examination of an entire karyotype at one time. Specimens from two patients, one with acute lymphocytic leukemia (ALL) and the other with multiple myeloma (MM), were studied. Metaphases were prepared by standard culture techniques. Conventional cytogenetic analysis (GTG banding) showed multiple clones in each of the cases. These clones were hyperdiploid metaphases with complex chromosomal abnormalities and multiple markers. The slides were then hybridized with FITC-, Cy-3-, and Cy-5-labeled RxFISH probes; the results were analyzed by a digital imaging system. The RxFISH color banding confirmed the hyperdiploid metaphases and identified multiple chromosomal abnormalities. In the specimen from the patient with ALL, several chromosomes, which had been classified as markers by G-banding, were found to be specific chromosomes. This study suggests that RxFISH can provide more accurate and specific identification of complex chromosomal abnormalities. RxFISH is a useful complement to the clinical cytogenetic laboratory armamentarium.
Bone Marrow↗
Ofloxacin for the treatment of urinary tract infections and biofilms in spinal cord injury.
Forty two paraplegic and quadriplegic hospitalized spinal cord injured patients with urinary tract infections (UTI) were included in a double blind, randomized treatment study comparing 7 days ofloxacin (300 mg bd) with trimethoprim-sulphamethoxazole (TMPSMX; 160-800 mg bd) or an alternative, chosen because of resistance to TMPSMX. The 4-day clinical cure rate, defined as an asymptomatic patient with sterile urine, was 90% (19/21) with ofloxacin, significantly greater than 48% (10/21) for the comparison group (P=0.003) and the rate at end of therapy was 90% (19/21) with ofloxacin, against 57% (12/21) (P=0.015). Bacterial biofilms were detected on bladder epithelial cells in 39/41 (95%) patients. The biofilm score fell significantly following ofloxacin therapy (P < 0.001) or alternative therapy (P < 0.001). Ofloxacin treatment led to significantly more biofilm eradication than the other antibiotic group on day 4 (62 vs. 24%) (P=0.005) and day 7 (67 vs. 35%) (P=0.014). The study showed that ofloxacin was better than TMPSMX and alternatives at relieving clinical infection and eradicating bladder cell biofilms.
Administration, Oral↗
Early detection of relapse by hypermetaphase fluorescence in situ hybridization after allogeneic bone marrow transplantation for chronic myeloid leukemia.
PURPOSE: Standard G-band cytogenetic analysis (CG) provides information on approximately 25 metaphases for monitoring the presence of Philadelphia chromosome positive (Ph+) cells in chronic myelogenous leukemia (CML) patients, making the detection of a low frequency of Ph+ cells problematic. The purpose of this study was to improve the detection of a low frequency of Ph+ cells. PATIENTS AND METHODS: We combined fluorescence in situ hybridization (FISH) with long-term colcemid exposure, capturing several hundred metaphases in bone marrow cultures (hypermetaphase FISH [HMF]). Using probes that identify Ph+ cells, HMF was compared with CG analysis in the follow-up evaluations of 51 patients with CML at various time points after allogeneic bone marrow transplant (BMT). RESULTS: Thirty-five patients never showed the presence of Ph+ cells by either method. In four patients, high frequencies of Ph+ cells were detected by both methods. In the remaining 12 patients, Ph+ cells were detected by HMF at time points after BMT when they were not detected by CG. In seven of the 12 patients, low but statistically significant frequencies of Ph+ cells (0.37% to 5.20%) were detected 3 months or later after BMT, and when no intervention was initiated, all seven patients later relapsed. Based on those data, an eighth patient with mixed chimerism and a similar HMF-detected Ph+ frequency (1.8% at 27 months after BMT) was reinfused with donor lymphocytes and achieved remission with 0% Ph+ cells studied by HMF (up to 50 months after BMT). Ph+ cells detected by HMF but not by CG less than 3 months after BMT disappeared on later examination in two of four patients. After detection of Ph+ cells by HMF only, the median time to cytogenetic progression (detection of Ph+ cells by CG) was 101 days. CONCLUSION: The results demonstrate the ability of HMF to detect low but clinically relevant levels of leukemic cells not detected by CG in transplant patients. The data indicate that HMF can detect low levels of Ph+ cells before standard cytogenetics at a time that may be useful in monitoring disease status and planning clinical interventions.
Bone Marrow Transplantation↗
Pathology quiz. Potential pitfalls with rubella serology.
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Adult↗
Evaluating on-line continuing education for nurses.
The rapid increase in web sites for nursing continuing education demands critical appraisal by the user. The level of anonymity of the web site authors and sponsors may lead to a laxity of accountability found in no other media. This article discusses criteria for web site evaluation and provides a rating instrument to assist learners in determining the quality and usability of an on-line nursing continuing education offering. Using the rating instrument, two web sites are reviewed. A list of selected nursing continuing education web sites is included.
Attitude to Computers↗
An integrated strategy for the process development of a recombinant antibody-cytokine fusion protein expressed in BHK cells.
Recombinant fusion proteins offer important new therapeutic approaches for the future. This report describes the use of three different genetic strategies (i.e. "mono-", "bi-" and "tri-cistronic" vectors) to achieve stable secretion from BHK cells of a glycosylated antibody-cytokine fusion protein designed for use in antitumour therapy. It describes selection of a robust and effective production cell line based on stability of secretion of the product, quality of mRNA and protein products and performance in in vitro bioassays for potency. The data obtained at this stage were utilised in the selection of a suitable candidate production cell line. The relative productivity and general performance of the cells in stirred tank and fixed bed culture systems indicated that a variety of cell culture technologies provided robust tools for production of a highly selected cell clone. Consistency of the product glycosylation was determined by analysis of released oligosaccharides using matrix-assisted laser desorption ionisation-time of flight mass spectrometry and high-performance anion exchange chromatography. These investigations showed consistent expression of three glycoforms of the fusion protein which varied in their relative proportions in different culture systems and at different time points in a fixed bed reactor with continuous perfusion. In conclusion, this study dealt with a range of important scientific and technical issues which are essential for regulatory approval and commercial success of a recombinant protein and elucidates some useful markers for process development for similar recombinant biologicals.
Animals↗