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PubMed1995

Chromosome X numerical abnormalities in patients with non-Hodgkin's lymphoma. A study of 59 patients using fluorescence in situ hybridization.

Chromosome X numerical abnormalities are frequently observed in non-Hodgkin's lymphoma (NHL), with an incidence of 3% to 14% for chromosomal loss and 7% to 33% for chromosomal gain. Because sex chromosome numerical abnormalities are thought to be due to aging, little information is known about their relation to gender, therapy, and prognosis. Therefore, to determine the incidence and clinical relevance of this abnormality in NHL, we studied specimens from 59 NHL patients (31 men and 28 women) by fluorescence in situ hybridization (FISH) using a directly conjugated centromeric probe for chromosome X. The median age for the entire group was 52 years (range, 31-88 years). All specimens were obtained by fine-needle aspiration of diseased lymph nodes. Sex-matched lymphocytes from benign hyperplastic lymph nodes were used as controls. The overall incidence of chromosome X numerical abnormalities was 49.2%. Female patients had a higher overall incidence than males (76% vs. 24%; p < 0.001). The median percentage of cells involved in this abnormality in each specimen was 5.2%. There was no statistically significant difference in the incidence in previously treated than untreated patients (53.1% vs. 44.4%; p < 0.75) and in intermediate-grade NHL than low-grade NHL (61.1% vs. 50%; p < 0.75). There was a trend towards a higher incidence of chromosome X loss in older patients. While the difference in the incidence of chromosome X abnormalities observed between women and men may be due to the difference in the normal copy numbers of this chromosome in each sex group, this abnormality remained higher than any other autosomal chromosome abnormality in NHL previously evaluated by FISH. We conclude that, although FISH detected a high incidence of chromosome X numerical abnormalities and that females had a higher incidence than males, only a small percentage of the cells were involved, suggesting that this abnormality is most likely a secondary genetic defect that is not important in the pathogenesis of NHL.

Adult↗
PubMed2003

Prognostic significance of fixed perfusion abnormalities on stress technetium-99m sestamibi single-photon emission computed tomography in patients without known coronary artery disease.

Fixed perfusion abnormalities in patients with known coronary artery disease (CAD) are associated with myocardial damage and adverse outcomes. However, the significance of these abnormalities in patients without known CAD is unclear. The aim of this study was to assess the prognostic significance of fixed versus reversible perfusion abnormalities in patients without known CAD. We studied 327 patients (58 +/- 11 years of age; 215 men) with no history of myocardial infarction or revascularization, who demonstrated myocardial perfusion abnormalities on stress (exercise or dobutamine) sestamibi tomographic imaging. Follow-up end points were all-cause mortality and hard cardiac events (cardiac death and nonfatal myocardial infarction). Myocardial perfusion abnormalities were reversible in 226 patients (69%) and fixed in 101 patients (31%). During a mean follow-up of 7 years, 72 patients (22%) died (cardiac death in 30) and 15 patients had nonfatal myocardial infarctions. The annual mortality rate was higher in patients with fixed abnormalities than in those with reversible abnormalities (4.4% vs 2.7%, p <0.01), whereas the annual hard cardiac event rate was not significantly different between the 2 groups (2.5% vs 2%). In a multivariate analysis model, the summed stress score was an independent predictor of hard cardiac events (risk ratio 1.7, 95% confidence interval 1.3 to 5.4). The presence of a fixed perfusion abnormality was independently associated with an increased risk of death after adjustment for clinical and stress test data and the summed stress score (risk ratio 2.5, 95% confidence interval 1.3 to 3.7). In patients with suspected, but no history of CAD, fixed perfusion abnormalities were associated with a higher risk of death compared with reversible perfusion abnormalities.

Adult↗
PubMed1996

Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.

PURPOSE: Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants. However, macular complications associated with successful treatment have not yet been well studied. METHODS: Eighteen very low birth-weight (< 1,251 g) infants (32 eyes) who received cryotherapy for ROP were examined serially for regression of disease and for development of macular abnormalities. Patient characteristics and treatment factors were evaluated to identify risk factors associated with the development of macular abnormalities after successful cryotherapy. RESULTS: Eleven of 32 eyes (34.4%) that had undergone cryotherapy developed significant macular abnormalities, including macular coloboma-like change (six eyes), macular hyperpigmentation (two eyes), irregularly mottled macular hyperpigmentation and hypopigmentation (two eyes), and macular hyperpigmentation and hypopigmentation with subretinal proliferation (one eye). Corrected visual acuity in affected eyes ranged from 0.15 to 0.03 (20/133 to 20/666) compared with 1.0 to 0.2 (20/20 to 20/100) in treated eyes without macular abnormality (P = .0002). No difference in gestational age was noted between infants who did or did not develop macular coloboma-like lesions or pigment abnormalities. Eyes with macular abnormality had more posterior disease (P = .037) and received significantly more cryotherapy than did eyes without macular abnormality (P = .0005). CONCLUSIONS: In very low birth-weight infants receiving cryotherapy for ROP, development of macular coloboma-like lesions and macular pigment abnormalities were related to greater severity of ROP and a greater amount of cryotherapy. Macular abnormalities were associated with markedly worse visual outcomes than were treated eyes without macular abnormality.

Birth Weight↗
PubMed2000

Relationship between structural abnormalities and short-wavelength perimetric defects in eyes at risk of glaucoma.

PURPOSE: To determine the relative prevalence of blue-yellow perimetric defects and structural abnormalities of the optic nerve and nerve fiber layer in eyes at risk of glaucoma. METHODS: Seventy-two eyes (of 72 patients) at risk of glaucoma, with normal white-on-white full threshold perimetry, were examined prospectively with blue-yellow full-threshold perimetry (Humphrey). Structural evaluations were conducted with qualitative assessment of stereoscopic color optic disk photographs and monochromatic nerve fiber layer photographs performed independently by three masked examiners (a glaucoma specialist and two glaucoma fellows), and statistical analysis of summary parameters was obtained with scanning confocal laser tomography (abnormal defined as values outside 95% confidence limits established in normal control subjects). RESULTS: Kappa values for interobserver agreement were 0.64, 0.88, and 0.79 for optic disk evaluation and 0.59, 0.60, and 0.61 for nerve fiber layer evaluation. Thirteen (18%) of 72 eyes had blue-yellow abnormalities. A total of 30 eyes (42%) were identified as having a structural abnormality; 29 (40%) had qualitatively determined optic disk abnormalities, 21 (29%) had qualitatively determined nerve fiber layer defects, and 26 (36%) had statistically significant structural abnormalities. Twelve of 13 eyes with blue-yellow defects had a detectable structural abnormality; all 12 had abnormalities identified with disk photography, nine with nerve fiber layer photography, and 12 by scanning laser tomography. CONCLUSIONS: Clinically detectable structural abnormalities frequently coexist with blue-yellow perimetric defects in patients with ocular hypertension. A substantial proportion of patients with ocular hypertension with normal blue-yellow perimetry has early detectable glaucomatous structural abnormalities.

Glaucoma, Open-Angle↗
PubMed1989

Correlation of ultrastructural aberrations with dysplasia and flow cytometric abnormalities in Barrett's epithelium.

Barrett's esophagus develops as a complication of chronic gastroesophageal reflux and predisposes patients to the development of dysplasia and adenocarcinoma of the esophagus. Because light microscopy of dysplasia in Barrett's esophagus shows diminished or absent mucus, we used transmission electron microscopy to compare cytoplasmic organelles required for mucus production in dysplastic and nondysplastic esophageal columnar epithelium. These observations of the rough endoplasmic reticulum, Golgi apparatus, and secretory granules were correlated with histologic interpretations and flow cytometric measurements of abnormalities of DNA content. Ultrastructural abnormalities included depletion and alteration of organelles required for mucus biosynthesis. These abnormalities often were accompanied by cells with markedly distended rough endoplasmic reticulum and massive accumulation of cytoplasmic glycogen aggregates. All 9 patients who had Barrett's dysplasia with or without early adenocarcinoma had ultrastructural abnormalities, as did 3 of 8 patients whose biopsy histology was indefinite for dysplasia. Abnormalities measured by flow cytometry correlated well with the presence of these ultrastructural aberrations. All 9 patients with Barrett's dysplasia with or without early adenocarcinoma had abnormalities observed by electron microscopy and aneuploidy or increased G2/tetraploid fractions measured by flow cytometry. Two of the 3 patients whose biopsies were indefinite for dysplasia and who had ultrastructural abnormalities also had aneuploidy or increased G2/tetraploid fractions. Neither ultrastructural nor flow cytometric abnormalities were found in the remaining 5 patients whose biopsies were indefinite for dysplasia, in 19 of 22 patients with Barrett's specialized metaplasia, or in any of the 7 patients with gastroesophageal reflux disease without Barrett's specialized metaplasia. Two of the 22 patients with Barrett's specialized metaplasia had distended rough endoplasmic reticulum in rare cells, and one other had an aneuploid cell population. We conclude that neoplastic progression in Barrett's esophagus is associated with abnormalities of cytoplasmic organelles required for mucus production. With few exceptions, these ultrastructural aberrations correspond to the presence of dysplasia or of aneuploidy or increased G2/tetraploid fractions. Electron microscopy and flow cytometery detect abnormalities associated with the development of dysplasia and cancer in Barrett's esophagus that may be biologically significant.

Adenocarcinoma↗
PubMedDate not supplied

Assessment of tympanometry abnormalities of the tympanic membrane.

Isolated abnormalities of the tympanic membrane have been postulated to affect tympanometry. The authors tested 33 abnormal tympanic membranes in 19 patients with tympanosclerosis and/or thin membranes (having no middle or fibrous layer) against a control group of 32 normal ears in 16 age- and sex-matched patients. All selected patients were free of middle ear disease on the basis of normal hearing, normal pneumatic otoscopic findings, and the presence of crossed acoustic reflexes or normal findings at paracentesis. All patients in the control group had normal type A tympanograms, while 20 (61 per cent) of the tympanic membranes in the experimental group produced abnormal tympanograms. Of the 20 abnormal tympanic membranes, 35 per cent were type As, 35 per cent were type Ad, 5 per cent were type B, and 25 per cent were type C. The tympanosclerotic membranes were more likely to have increased stiffness on the tympanogram, such as As, or B, while the thin membranes had an Ad configuration. The greater the extent of the abnormality within the tympanic membrane, the more abnormal was the tympanogram. This study has demonstrated that isolated abnormalities of the tympanic membrane, such a tympanosclerosis and thin membranes, can alter the tympanogram in the absence of middle ear disease, and that the type of tympanogram can be predicted from the nature and extent of the abnormality. Therefore, an abnormal tympanogram may indicate middle ear disease, abnormality of the tympanic membrane, or both. The presence of an acoustic reflex is important in this differentiation.

Acoustic Impedance Tests↗
PubMed1984

Phase image characterization of localized and generalized left ventricular contraction abnormalities.

To evaluate their phase image characteristics, 61 patients with varying left ventricular contraction abnormalities were studied. In 16 normal patients, the left ventricular phase image revealed a homogeneous pattern, a narrow bell-shaped histogram and an orderly spatial progression of phase angle (phi). In 16 patients with segmental abnormalities, the left ventricular phase image showed a region of uniformly delayed phase angle corresponding to the site of segmental abnormality, a discrete secondary histogram peak and a discontinuous, but orderly, spatial progression of phase angle. The mean phase angle (phi) (23.6 +/- 15.7 degrees) and its standard deviation (17.6 +/- 7.2 degrees) differed from the normal group (7.6 +/- 11.1 degrees, p less than 0.002 and 8.9 +/- 2.8 degrees, p less than 0.001). The percent of end-diastolic volume involved in the segmental abnormality, calculated using phase data in 13 of these and in 11 additional patients with a left ventricular aneurysm on ventriculography, correlated well with the percent akinetic segment on scintigraphic (r = 0.78) and angiographic (r = 0.84) study. In 18 patients with generalized abnormalities, the left ventricular phase image revealed multiple regions of inhomogeneous phase angle, a grossly irregular histogram and a disorderly spatial progression of phase angle. The mean phase angle (56.4 +/- 23.9 degrees) and standard deviation (27.3 +/- 7.1 degrees) differed from values in the normal group and from patients with segmental contraction abnormalities (both p less than 0.001). The mean phase angle and its standard deviation in scattered regions with abnormally prolonged phase angle differed significantly from abnormal regions in patients with segmental abnormalities (both p less than 0.001). These patterns of left ventricular phase angle demonstrate characteristics that may help differentiate between ventricles with segmental and generalized contraction abnormalities. Their relation to underlying pathophysiology and potential clinical implications should be considered.

Adult↗
PubMed2003

Encephalopathy as a predictor of magnetic resonance imaging abnormalities in asphyxiated newborns.

Basal ganglia abnormalities on magnetic resonance imaging predict neurodevelopmental impairment in newborns with perinatal depression. We determined the value of a clinical encephalopathy score as a predictor of abnormal magnetic resonance imaging results in newborns with perinatal depression. We assigned a neonatal encephalopathy score to 101 newborns. The encephalopathy score, based on alertness, feeding, tone, respiratory status, reflexes, and seizure activity, was assigned once daily. The maximum score from the first 3 days of life was compared with abnormal magnetic resonance imaging results present globally or solely in the basal ganglia.Eighty-one percent of patients manifested abnormalities on any magnetic resonance imaging sequence, and 37% manifested abnormalities in the basal ganglia alone. The encephalopathy score correlated well with magnetic resonance imaging abnormalities in the basal ganglia (Spearman Rho = 0.335, P < 0.0001). Newborns with mild and severe encephalopathy had likelihood ratios of 0.41 and 7.4, respectively, for abnormal basal ganglia magnetic resonance imaging results. Newborns with moderate encephalopathy (composing 47% of the cohort) manifested basal ganglia abnormalities with a likelihood ratio of 0.785. Severe clinical encephalopathy correlates with abnormal basal ganglia magnetic resonance imaging results, and mild encephalopathy correlates with a normal magnetic resonance imaging result. However, standard clinical criteria do not alter the prior risk of abnormal basal ganglia magnetic resonance imaging results for newborns with moderate encephalopathy.

Asphyxia Neonatorum↗
PubMed2003

Diffusion-weighted imaging predicts postoperative persistence in meningioma patients with peritumoural abnormalities on magnetic resonance imaging.

OBJECTIVE: While diffusion-weighted magnetic resonance imaging (MRI) has been used to study malignant brain tumours, this modality has not been used to study MRI abnormalities surrounding meningiomas. METHODS: We examined intensity and apparent diffusion coefficient (ADC) on diffusion weighted imaging (DWI) for predicting postoperative persistence of MRI abnormalities surrounding meningiomas as well as characterizing the tumours. RESULTS: Of 36 meningiomas who underwent gross total resection, 27 (75%) showed hyperintensity on DWI at b=1100s/mm2. No atypical meningiomas were hypointense on DWI. Of the 26 supratentorial meningiomas, 18 (69.0%) had associated MRI abnormality. No significant correlation was seen between tumour intensity on DWI and existence of surrounding MRI abnormality. Meningothelial meningiomas showed a relatively low prevalence of MRI abnormalities surrounding tumour (30%). Of 11 patients who underwent sequential MRI, all MRI abnormalities surrounding tumour showing isointensity and high ADC on preoperative DWI disappeared after surgery (from 3 weeks to 10 months). All MRI abnormalities surrounding tumour showing hyperintensity and low ADC on preoperative DWI persisted on final follow-up MRI (from 6 months to 20 months). CONCLUSION: The postoperative course of MRI abnormality surrounding tumour might be predictable from the intensity and ADC on preoperative DWI. Since MRI abnormalities associated with meningiomas can cause preoperative neurologic deficits. We hypothesise that abnormalities with restricted diffusion will be more likely to be associated with a preoperative deficit, and more likely to remain after removal of the causative meningioma.

Adult↗
PubMed2005

Severe metabolic abnormalities after allogeneic hematopoietic cell transplantation.

Severe metabolic abnormalities occurring within 100 days after allogeneic hematopoietic cell transplantation (HCT) were investigated in 311 patients. The metabolic abnormalities included hyper- and hypocalcemia, hypophosphatemia, hyper- and hypokalemia, hyper- and hyponatremia, hyper- and hypomagnesemia, hypercholesterolemia, hyper- and hypoglycemia, and hyperuricemia. Severe abnormalities, defined as grades III-V by NCI CTCAE v3.0, occurred in 269 patients (86.5%). Multivariate analysis revealed that patients with moderate-to-severe hepatic veno-occlusive disease had significantly higher risk for the occurrence of severe metabolic abnormalities. Grades III-IV acute graft-versus-host disease was the most frequently associated with individual metabolic abnormalities. Patients with at least one severe metabolic abnormality had significantly higher day 100 nonrelapse mortality (P=0.015) and lower 5-year overall survival (P=0.002) than those without severe abnormalities. The number of metabolic abnormalities also stratified the patients with different clinical outcomes. In conclusion, severe metabolic abnormalities occurring within 100 days after allogeneic HCT were common, and their occurrence was significantly associated with inferior clinical outcomes. These results indicate that metabolic parameters should be monitored in patients undergoing allogeneic HCT and that the occurrence of severe metabolic abnormalities should be considered an important toxicity parameter in prospective clinical trials regarding allogeneic HCT.

Adolescent↗
PubMed2001

Transvaginal sonography combined with saline contrast sonohysterography in evaluating the uterine cavity in premenopausal patients with abnormal uterine bleeding.

OBJECTIVES: To evaluate whether saline contrast sonohysterography (SCSH) adds additional information to that obtained by transvaginal sonography (TVS) for predicting endometrial abnormality in premenopausal patients with abnormal uterine bleeding. PATIENTS AND METHODS: This was a two-center prospective study at a university clinic and a central hospital in Denmark. The uterine cavity was evaluated with TVS and SCSH in 470 premenopausal patients with abnormal uterine bleeding. One hundred and eighty-nine of the patients had operative hysteroscopy or hysterectomy within 4 months which provided a detailed description of the uterine cavity and was used as the true value for exclusion of polyps and submucous myomas. RESULTS: Based on normal endometrial morphology alone, the results for detection of an abnormal uterine cavity were as follows: sensitivities of TVS 0.92, SCSH 0.99; specificities of TVS 0.62, SCSH 0.72; positive predictive values of TVS 0.80, SCSH 0.85; negative predictive values of TVS 0.82, SCSH 0.98. Transvaginal sonography combined with SCSH was superior to TVS for detection of intracavitary abnormalities (McNemar test, P = 0.008). The post-test probability of there being an abnormal cavity after normal findings on TVS alone was 0.18 (0.10-0.32) and after TVS and SCSH it was 0.02 (0.01-0.11). When normal endometrial morphology was combined with an endometrial thickness of < 12 mm for evaluation of all abnormalities including hyperplasia, the diagnostic potential of TVS or SCSH was almost unchanged except for specificities, which were markedly lower (TVS 0.54; SCSH 0.57). In all the patients referred, TVS had a negative predictive value of 0.94 for identification of polyps and myomas when findings at subsequent SCSH were accepted as the true value. Transvaginal sonography reduced the pretest probability of polyps or submucous myomas from 0.35 to a post-test probability of 0.06, but missed 21% of the polyps. CONCLUSIONS: Sonohysterography was a sensitive tool and was superior to TVS used alone for evaluation of the uterine cavity in patients who underwent operative surgery for abnormal uterine bleeding. All abnormalities except one were found at SCSH, while TVS alone missed polyps and had almost one in four equivocal findings. The use of TVS, without saline contrast, left one in five of the polyps undiagnosed in referred patients with abnormal bleeding.

Adult↗
PubMed2002

Ophthalmological abnormalities in children with cerebral white matter disorders.

The use of magnetic resonance imaging (MRI) in children with severe neurological impairment has defined a subgroup with increased T2-signals from cerebral white matter. The causes of white matter abnormalities are for the most part unknown, despite extensive investigation. Their clinical correlates and characteristics have still to be systematically analysed and described. We have compared clinical, ophthalmological and electro-ophthalmological findings in such children to delineate neurological and MRI patterns and have sought to correlate with the progression of disease. Clinical and electro-ophthalmological investigations were performed in 26 children with cerebral white matter abnormalities of unknown aetiology; 25 of the 26 children showed abnormalities, 23 clinical and 18 electro-ophthalmological. Optic nerve abnormalities, severe visual impairment and strabismus were the most common. Electro-ophthalmological abnormalities were increased latencies and abnormal waveform of the visual evoked potentials (VEP). Children with progressive disease all had abnormal VEP, whereas none of the ten children with a normal VEP deteriorated. We conclude that children with cerebral white matter abnormalities almost invariably had ophthalmological and often VEP abnormalities. Normal VEP was correlated with non-progressive disorder, as was hypoplasia or malformation of the papilla, whereas abnormal VEP were associated with progressive disease.

Adolescent↗
PubMed1999

EEG abnormalities in survivors of neonatal ECMO: its role as a predictor of neurodevelopmental outcome.

The incidence and site of electroencephalogram (EEG) abnormalities and the efficacy of post-ECMO EEG as a predictor of neurodevelopmental outcome was evaluated in survivors of neonatal extracorporeal membrane oxygenation (ECMO). All survivors of neonatal ECMO with an EEG performed prior to their discharge were included if they had at least 12 months of follow-up. The neurodevelopmental outcome was reported as normal, suspect, and abnormal on the basis of neurological examination and the scores on Bayley Scales of Infant Development or McCarthy Scale of Children's Abilities. EEG abnormalities were noted in 31 (70%) of 44 infants. The distribution of EEG abnormalities was not significantly different for right and left hemispheres. The incidence of abnormal neurodevelopmental outcome was similar in infants with a normal or an abnormal EEG (3 of 13 vs. 7 of 31; p = 0.8). EEG abnormalities had no correlation with neurodevelopmental outcome. We conclude that the high incidence of EEG abnormalities and their lack of correlation with neurodevelopmental outcome would suggest that these abnormalities do not represent permanent brain injury and a single EEG performed after decannulation from ECMO is not helpful in identifying infants at risk of subsequent abnormal neurodevelopmental outcome.

Child Development↗
PubMedDate not supplied

Abnormal liver function associated with occupational exposure to dimethylformamide and glutathione S-transferase polymorphisms.

Dimethylformaide (DMF) is a major solvent predominately used in synthetic leather and resin production. Many human and animal studies have linked the cause of hepatoxicity to DMF. Previously, the authors demonstrated the significant dose-response relationship between abnormal liver function tests and DMF exposure and the interaction with hepatitis B virus (HBV) infection in Taiwanese workers. Because the toxic effect of various chemicals can be modified by metabolic traits, the study also investigated the influence of the glutathione S-transferases (GSTM1 and GSTT1) on the toxic effect of DMF. The average DMF exposure concentration was 23.87 ppm (range 5.2-86.6 ppm) in the high-exposure (>/=5 ppm) group and 2.41 ppm (range 0.9-4.3 ppm) in the low-exposure (<5 ppm) group. There were 13 of 44 (29.6%) abnormal liver function tests (elevations of either glutamate oxaloacetate transaminase (GOT) or glutamate pyruvate transaminase (GPT)) among the high DMF exposure workers, two of 22 (9.1%) abnormal liver function tests among the low DMF exposure workers. Chronic liver disease as determined by ultrasonography was present in seven of 44 (15.9%) high DMF exposure workers, and 0 of 22 (0%) low DMF exposure workers. There were 11 of 34 (32.4%) abnormal liver function tests among the GSTT1 null genotype workers, and four of 32 (12.5%) abnormal liver function tests among the GSTT1-positive genotype workers. Compared with the low DMF exposure workers, the adjusted odds ratio and 95% confidence intervals for abnormal liver function tests was 6.78 (0.94-48.7) for the high DMF exposure workers. Compared with the GSTT1-positive genotype workers, the adjusted odds ratio and 95% confidence intervals for abnormal liver function tests was 4.41 (1.15-16.9) for the GSTT1 null genotype workers. Compared with the low DMF group with GSTT1-positive genotype workers, the odds ratio (adjusted for HBV status) of abnormal liver function test was 12.38, 95% CI=(1.04-146.9) for the high DMF group with GSTT1 null genotype workers. This study indicates that abnormal liver function and chronic liver disease are associated with DMF exposure, and there are more than multiplicative interaction effects on abnormal liver function tests between the DMF exposure and the GSTT1 genotype.

Adult↗
PubMed2002

Neuropsychologic impairment and MRI abnormalities associated with chronic solvent abuse.

OBJECTIVE: Individuals chronically abusing organic solvents have been reported in the medical literature for almost four decades to have a variety of neurological abnormalities. Most have been single case reports or studies in small numbers of individuals. The purpose of this study was to evaluate the neurologic and neuropsychologic effects of chronic solvent abuse in a larger group of individuals and compare the results to a control group of other drug abusers. Attempts to estimate a dose-response relationship between solvent abuse and either neuropsychological tests or magnetic resonance imaging (MRI) abnormalities were also undertaken. METHODS: A sample of 55 solvent abusers was compared to a sample of 61 users of other drugs, especially cocaine and alcohol, on a battery of cognitive and neuropsychological tests. Fifty of the solvent abusers and 51 members of the comparison sample also underwent MRI of the brain. Comparisons were made by means of multivariate analysis of variance and covariance. RESULTS: Compared to the general population, both groups performed poorly, scoring below the mean on most neuropsychological measures. Solvent abusers performed more poorly than the comparison sample on measures of working memory and executive cognitive functions. Both groups showed evidence of abnormal MRI findings, but a greater percentage of the solvent abuse group showed such abnormalities. No clear dose-response relationship was seen between solvent abuse and abnormalities on neuropsychological tests, but a strong dose-response relationship was seen in the presence of MRI abnormalities. CONCLUSION: The findings in this study document widespread cognitive impairment, which could not be attributed to the effects of solvents entirely. These findings expand upon previous data regarding neurological abnormalities in solvent abusers, by demonstrating a dose-response relationship with MRI abnormalities. An unexpected finding was the high prevalence of neuropsychological impairment and MRI abnormalities among the comparison group. The results of this study has implications regarding low-level solvent exposure, as in the occupational setting, suggesting that MRI may be a more useful tool to sort out the presence of neurological abnormalities rather than neuropsychological tests. Since no dose-response relationship was seen between solvent abuse and neuropsychological testing, reliance upon these tests in assessing neurological injury from solvents is a highly dubious practice.

Adult↗
PubMed1995

Simultaneous use of the PCR-SSCP method and immunohistochemistry for increasing the detection efficacy of p53 abnormalities in human lung cancer.

Malignant neoplasms possess multiple genetic abnormalities. Among those, p53 gene abnormalities are the most frequent in human neoplasms. To screen for p53 abnormalities, both immunohistochemistry (IHC) and the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) methods are commonly used, but neither can detect specimens simultaneously by the two methods, 12 abnormal cases (34%) were detected by IHC and 9 abnormal cases (26%) were detected by PCR-SSCP. Six abnormal (17%) and 20 normal (57%) cases showed concordant results between the methods, although 9 cases (26%) showed discordance, including 6 IHC-positive cases (17%) and 3 SSCP-positive cases (9%). Because it is known that some p53 abnormalities are detected only by IHC or only by PCR-SSCP, discordant cases should be assessed as possessing abnormalities. Fifteen cases (43%) were finally assessed as abnormal. These results suggest that the two methods together can increase the sensitivity of screening for p53 abnormalities.

Gene Expression↗
PubMed1998

Cytogenetic abnormalities in uterine myomas are associated with myoma size.

Uterine leiomyomata (myomas) are associated with a variety of characteristic cytogenetic abnormalities. The significance of these chromosomal aberrations in the pathobiology of myomas remains to be determined. The present study investigated the relationship between myoma cytogenetic abnormalities and size. A total of 114 myoma specimens were obtained from 92 patients undergoing myomectomy or hysterectomy. The maximum diameter of each myoma was measured and a portion of each myoma obtained for cytogenetic analysis. Karyotypes were analysed and categorized as normal, abnormal (non-mosaic) or mosaic. Cytogenetic analyses revealed 73 (64%) normal, 20 (18%) abnormal (non-mosaic), and 21 (18%) mosaic karyotypes. Mean myoma diameter was 6.5+/-0.44 cm with a range of 0.4-27 cm. Differences between the mean myoma diameter of specimens with normal versus abnormal karyotypes was determined by the Kruskal-Wallis test. The mean myoma diameter among specimens with abnormal (non-mosaic) karyotypes was significantly greater than myomas with normal karyotypes (10.2+/-5.9 versus 5.9+/-4.2 cm; P < 0.001). The proportion of abnormal (non-mosaic) karyotypes in myomas >6.5 cm was compared to myomas <6.5 cm by chi2-analysis; myomas >6.5 cm demonstrated a significantly higher proportion of abnormal (non-mosaic) karyotypes when compared to myomas <6.5 cm (75 versus 34%; P < 0.02). In summary, a significant relationship exists between clonal cytogenetic abnormalities and myoma size, suggesting that chromosomal abnormalities associated with individual myomas enhance myoma growth.

Adult↗
PubMed2004

Calorie restriction limits the generation but not the progression of mitochondrial abnormalities in aging skeletal muscle.

The effect of early-onset calorie restriction and aging on the accumulation of electron transport system (ETS) abnormalities was studied in rat skeletal muscle. Rectus femoris and vastus lateralis muscle fibers were analyzed for cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) enzyme activities. Fibers displaying COX negative and SDH hyper reactive (COX-/SDH++) phenotype were followed through 1000-2000 micrometers to determine the frequency and length of these abnormalities as well as the physiological impact on fiber structure. Calorie restricted rats had fewer ETS abnormal muscle fibers. The mean length of ETS abnormal regions in ad libitum rat muscle fibers was similar to calorie restricted rat muscles. ETS abnormal fibers from both diet groups exhibited intra-fiber atrophy. A negative correlation between ETS abnormality length and fiber cross-sectional area (CSA) ratio was observed in both ad libitum and calorie- restricted rats. Although calorie restriction reduced the number of ETS abnormalities, it did not affect the length or associated fiber atrophy of ETS abnormal regions once the abnormality was established. Thus, calorie restriction affects the onset but not the progression of electron transport system abnormalities, thereby, limiting a process that ultimately results in fiber breakage and fiber loss.

Aging↗