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PubMed2001

Obstetric ultrasonographic findings and fetal chromosomal abnormalities: refining the association.

OBJECTIVE: In an attempt to refine the role of ultrasonography in screening and identifying fetuses at risk for chromosomal abnormalities, a retrospective review of patients undergoing genetic amniocentesis was undertaken. STUDY DESIGN: Computer databases from the perinatal biology laboratory and cytogenetics laboratory of our institution were correlated to compare the results of the fetus' ultrasonographic examination with the cytogenetic results from amniocentesis. Univariate and multivariate analysis were used to determine the best correlations between ultrasonographic findings and chromosomal abnormalities (study 1). The results were used to construct regression analysis formulas and a Neural Network program to predict the presence or absence of chromosomal abnormalities in a second set of patients (study 2) undergoing genetic amniocentesis. RESULTS: One hundred twenty-five chromosomal abnormalities were found in 3775 fetuses in study 1 (3.3%). Multivariate analysis showed significant correlations between anomalies of the central nervous system, heart, face and neck, and extremities and increased nuchal fold, increased bowel echogenicity, abnormal biparietal diameter-to-femur ratio, and the presence of chromosomal abnormalities. Regression equations and a Neural Network program successfully predicted the presence or absence of fetal chromosomal abnormalities in a second set of 901 at-risk fetuses. CONCLUSION: A normal ultrasonographic examination result in patients who are at increased risk for fetal chromosomal abnormalities reduces the risk 2- to 3-fold, whereas the presence of any major ultrasonographic abnormality or certain minor abnormalities significantly increases the risk. The application of these results to low-risk patients is still premature.

Adolescent↗
PubMed2005

Risk of specific congenital abnormalities in offspring of women with diabetes.

AIMS: To assess the extent to which the increased risk of congenital abnormalities seen in women with pre-gestational insulin-treated diabetes mellitus is unspecific or related to the embryology of specific organs. METHODS: Cases with congenital abnormalities were identified in the population-based Hungarian Congenital Abnormality Registry from 1980 to 1996 with two newborn children without congenital abnormality selected from the National Birth Registry as controls. We adjusted for parity, maternal age, and use of antipsychotic drugs. RESULTS: Among cases we found 63/22,843 babies with maternal diabetes compared with 50/38,151 in the control group [adjusted prevalence odds ratio (POR) 2.1; 95% CI 1.5-3.1]. The association was strongest for the following congenital abnormalities: renal agenesis (POR: 14.8; 95% CI, 3.5-62.1), obstructive congenital abnormalities of the urinary tract (POR: 4.3; 95% CI, 1.3-13.9), cardiovascular congenital abnormalities (POR: 3.4; 95% CI, 2.0-5.7), and multiple congenital abnormalities (POR: 5.0; 95% CI, 2.4-10.2). CONCLUSIONS: These data indicate that pre-gestational maternal diabetes is associated with strong teratogenic effects on the kidney, urinary tract, and heart, and strongly associated with multiple congenital abnormalities. We found no material association between diabetes and spinal congenital abnormalities and limb deficiencies.

Abnormalities, Drug-Induced↗
PubMed2006

Acute respiratory infections during pregnancy and congenital abnormalities: a population-based case-control study.

Diseases of respiratory system caused by acute infections are among the most common maternal diseases during pregnancy. The objective of the study was to estimate the association between congenital abnormalities and acute respiratory infections during the first trimester of pregnancy. The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities including 22 843 cases with congenital abnormalities, 38 151 population controls without congenital abnormalities and 834 malformed controls with Down syndrome between 1980 and 1996 was evaluated. 2118 cases with congenital abnormalities (9.3%), 3455 population controls (9.1%) and 92 malformed controls with Down syndrome (11.0%) had mothers with acute respiratory infections. Of 25 different congenital abnormality groups, esophageal atresia/stenosis showed a high adjusted prevalence odds ratios (POR) with 95% confidence interval (CI) for acute respiratory infections during the first trimester of pregnancy in case mothers compared with population controls (3.6, 1.4-9.1) and malformed controls (1.9, 1.0-3.5), respectively. In addition there was an association between medically recorded acute respiratory infections during the first trimester of pregnancy and a higher risk for some other congenital abnormalities, such as posterior cleft palate and multiple congenital abnormalities. In conclusion a possible association between some congenital abnormalities, particularly esophageal atresia/stenosis and maternal acute respiratory infections cannot be excluded due to the interactions of the microbial agents, related drug treatments and last but not least the indirect effect of maternal diseases, such as fever-hyperthermia, hypoxia and dietary deficiency. However, periconceptional multivitamin/folic acid supplementation during the early pregnancy was able to reduce the acute respiratory infection related risk for congenital abnormalities.

Abnormalities, Multiple↗
PubMed1999

Fetal abnormalities: evaluation with real-time-processible three-dimensional US--preliminary report.

PURPOSE: To assess the usefulness of real-time-processible three-dimensional (3D) ultrasonography (US) in the evaluation of fetal abnormalities. MATERIALS AND METHODS: The apparatus comprised a conventional US scanner with a specially designed unit for real-time-processible 3D US and a transabdominal 3D probe. A 3D US examination was performed in 19 women with abnormalities of the fetus (13-35 weeks gestation) that had been detected at two-dimensional (2D) US. RESULTS: Thirty-six abnormalities were detected with conventional 2D US, real-time-processible 3D US, or both in 19 fetuses with abnormalities. Seventeen (47%) of the 36 abnormalities were demonstrated and confirmed clearly with real-time-processible 3D US, and nine of these had been seen with 2D US. Eighteen intrafetal abnormalities had been demonstrated clearly with 2D US, but 14 of these could not be demonstrated with real-time-processible 3D US. CONCLUSION: Real-time-processible 3D US is useful for evaluating fetal abnormalities as a supplement to 2D US, particularly for abnormalities of the face, ears, fingers, and anatomic axis, but real-time-processible 3D US is unlikely to be helpful for detecting intrafetal abnormalities except for skeletal abnormalities and some pathologic changes with fluid accumulation.

Computer Systems↗
PubMed2003

A forty-three year museum study of northern cricket frog (Acris crepitans) abnormalities in Arkansas: upward trends and distributions.

The northern cricket frog (Acris crepitans) is a resident of streams, rivers, and wetlands of eastern North America. We documented abnormalities in A. crepitans housed in the Arkansas State University Museum of Zoology Herpetology Collection. Abnormality frequency increased from 1957 to 2000 (chi 2 = 43.76, df = 3, P < 0.001). From 1957 through 1979 only 3.33% of specimens were unusual. This rate was 6.87% during the 1990s, and in 2000 it was 8.48%. High frequencies of abnormalities were identified in the following Ozark highland counties: Sharp, Lawrence, and Randolph. We observed 104 abnormalities among 1,464 frogs (7.10%). The differential abnormality frequencies observed between the Arkansas lowlands and highlands are striking. The Ozarks had significantly higher frequencies of abnormalities than other Arkansas regions (chi 2 = 59.76, df = 4, P < 0.001). The Ouachita Mountains had significantly higher frequencies than the Gulf Coastal Plain, Delta, or Arkansas River Valley (chi 2 = 13.172, df = 3, P < 0.01). There was no difference in abnormality frequency between the Gulf Coastal Plain, Delta, and Arkansas River Valley (chi 2 = 0.422, df = 2, P > 0.70). Proposed hypotheses for distributions include: 1) A. crepitans might possess naturally high abnormality levels, and land use practices of the Delta may reduce this variability; 2) an unknown xenobiotic may be in Ozark streams causing increased numbers of abnormalities; 3) the museum's collection effort may be skewed; 4) Delta habitat might be more favorable for green tree frogs (Hyla cinerea) allowing this species to drive out A. crepitans through competition; here, abnormal metamorphs are not detected because they are even less competitive than normal individuals.

Animals↗
PubMed2003

Prenatal detection of fetal trisomy 18 through abnormal sonographic features.

OBJECTIVE: To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine the sensitivity of sonographically detecting fetuses with trisomy 18. METHODS: All genetic and cytogenetic records of fetuses with trisomy 18 were reviewed retrospectively (1992-2002). From these, singleton fetuses who had prenatal sonography at our unit were identified. The maximal numbers of individual abnormalities from 1 sonographic examination (not limited to type of organ system) were recorded. Each abnormality was classified as major, minor, or "other," and each organ system was classified as abnormal only once, regardless of the number of individual abnormalities identified in that system. The sensitivity of sonography in detecting abnormalities of trisomy 18 was determined. RESULTS: Of 38 fetuses identified with trisomy 18, all had 4 or more prenatally detected sonographic abnormalities (sensitivity of sonographic detection of fetuses with trisomy 18, 100%). The median number of abnormalities per examination was 8 (range, 4-19). Sonographically detected major abnormalities were cardiac (84%; n = 32), central nervous system (87%; n = 33), gastrointestinal (26%; n = 10), and genitourinary (16%; n = 6). Sonographically detected minor abnormalities were short ear length below the 10th percentile for gestational age (96%; n = 26/27), upper extremities and hands (95%; n = 36), lower extremities and feet (63%; n = 24), and face (53%; n = 20). Fifty percent (19 of 38) had choroid plexus cysts identified, but this was never an isolated finding. CONCLUSIONS: In experienced hands, the sensitivity of detecting fetal trisomy 18 on prenatal sonography is 100%, and all cases will have multiple anomalies visualized.

Abnormalities, Multiple↗
PubMed2006

A population-based analysis of laboratory abnormalities during isotretinoin therapy for acne vulgaris.

OBJECTIVE: To determine the incidence of abnormal laboratory test results among isotretinoin users. DESIGN: Retrospective cohort. SETTING: Comprehensive managed care health plan in Northern California. PARTICIPANTS: The study population comprised 13 772 patients aged 13 to 50 years with acne, undergoing oral isotretinoin therapy between March 1995 and September 2002. MAIN OUTCOME MEASURES: Laboratory values for serum triglyceride, total cholesterol, and liver transaminase levels; white blood cell count, hemoglobin level, and platelet count; and frequency of abnormal laboratory results by severity grade as defined by the National Cancer Institute Common Terminology Criteria for Adverse Events v3.0. RESULTS: Substantial increases in the cumulative incidence of abnormalities were seen in serum lipid and transaminase levels, but not in hematologic parameters, during isotretinoin treatment compared with the baseline period. The cumulative incidence of new abnormalities in patients with normal values at baseline was 44% for triglyceride level, 31% for total cholesterol level, and 11% for transaminase level. Moderate to severe abnormalities in lipid and transaminase levels were generally transient and reversible. New abnormalities in hematological test results were uncommon. CONCLUSIONS: The incidence of abnormally high serum lipid levels during isotretinoin treatment may be greater than previously estimated. Elevations in transaminase level are generally mild. Normal baseline values of serum lipid and transaminase levels do not preclude the development of new abnormalities during isotretinoin treatment. Routine monitoring of white blood cell count, hemoglobin level, and platelet count during isotretinoin therapy may be of little utility without clinical suspicion of an abnormality. The clinical significance of laboratory abnormalities during isotretinoin therapy remains to be determined.

Acne Vulgaris↗
PubMed1999

Association of nonspecific minor ST-T abnormalities with cardiovascular mortality: the Chicago Western Electric Study.

CONTEXT: Minor electrocardiographic (ECG) ST-T abnormalities are common, but their prognostic importance has not been fully determined. OBJECTIVE: To examine associations of single (1 time only) and multiple (2 times only and > or =3 times) nonspecific minor ST-T abnormalities in 5 years with long-term mortality due to myocardial infarction (MI), coronary heart disease (CHD), cardiovascular disease (CVD), and all causes in middle-aged men. DESIGN: Prospective cohort study (29-year follow-up after 5 annual examinations). SETTING AND PARTICIPANTS: A total of 1673 men employed at the Western Electric Company in Chicago, III, aged 40 to 55 years at entry, with no evidence of CHD and no major ECG abnormalities throughout the first 5-year period. MAIN OUTCOME MEASURES: Minor ST-T abnormalities identified from annual resting ECGs and mortality ascertained from death certificates. RESULTS: Of the 1673 men, 173 had evidence of isolated nonspecific minor ST-T segment abnormalities. During the follow-up period, there were 234 deaths due to MI, 352 deaths due to CHD, 463 deaths due to CVD, and 889 deaths due to all causes. For men with 3 or more annual recordings of minor ST-T abnormalities, risk of death due to MI, CHD, CVD, and all causes was significantly greater than for those with normal ECG findings. For men with 3 or more ECGs with minor ST-T abnormalities, relative risks (and 95% confidence intervals) adjusted for cardiovascular and other risk factors were 2.28 (1.16-4.49), 2.39 (1.39-4.12), 2.30 (1.44-3.68), and 1.60 (1.06-2.42), respectively, with a graded relationship between frequency of occurrence of ST-T abnormalities and mortality risk (linear trend, P< or =.007). CONCLUSIONS: Persistent, minor, nonspecific ST-T abnormalities are associated with increased long-term risk of mortality due to MI, CHD, CVD, and all causes; the higher the frequency of occurrence of minor ST-T abnormalities, the greater the risk. These data underscore the potential value of including nonspecific ECG findings in the overall assessment of cardiovascular risk.

Adult↗
PubMed1993

Detection of intraarticular abnormalities in osteoarthritis of the knee. A pilot study comparing needle arthroscopy with standard arthroscopy.

OBJECTIVE: To determine whether intraarticular abnormalities in osteoarthritis (OA) of the knee can be detected as well by needle arthroscopy as by standard arthroscopy. METHODS: Needle arthroscopy followed by standard arthroscopy was performed on 10 patients with knee OA (diagnosed according to American College of Rheumatology criteria) whose symptoms were not entirely attributable to the OA and were therefore an indication for further evaluation. Each knee was assessed for abnormalities of the menisci, articular cartilage (6 sites), and synovium (6 sites). RESULTS: Evaluation of the 18 menisci visualized with both techniques yielded the same results: 6 abnormal and 12 normal. Among the 54 articular cartilage sites evaluable with both procedures, 16 were judged normal by both needle arthroscopy and standard arthroscopy. Of the 38 cartilage sites judged abnormal by standard arthroscopy, 34 (89%) were abnormal by needle arthroscopy. Both techniques indicated cartilage changes were the same at 42 (78%) of the 54 sites; changes at the other 12 sites were 1 grade higher by standard arthroscopy than by needle arthroscopy. Both needle arthroscopy and standard arthroscopy revealed 51 evaluable sites in the synovium. Of 34 areas judged abnormal by standard arthroscopy, 24 (71%) were also judged abnormal by needle arthroscopy; 17 areas were judged normal by both techniques. The 2 techniques assigned the same macroscopic score in 27 (53%) of 51 areas of the synovium, with a higher grade by standard arthroscopy in all but 1 of the other 16 areas. CONCLUSION: These pilot data suggest that in knee OA, needle arthroscopy can 1) accurately detect meniscal abnormalities, 2) detect cartilage abnormalities, but may underestimate the severity, and 3) detect most synovial abnormalities, but often underestimates the severity. Needle arthroscopy is a potentially valuable rheumatologic tool for the assessment of OA of the knee.

Adult↗
PubMed2006

Incidence and clinical relevance of abnormal complete blood counts in long-term survivors of childhood cancer.

BACKGROUND: The purpose of the study was to determine the incidence and clinical significance of abnormal complete blood counts (CBCs) obtained during follow-up of childhood cancer survivors. METHODS: A retrospective cohort study was conducted on 193 survivors, diagnosed between 1970-1986, who were followed in our center's After Cancer Experience Program and are participants in the Childhood Cancer Survivor Study. Of these patients, 49% were female and 25% were racial/ethnic minorities. The primary outcome was determination of the cumulative percentage of patients having an abnormal CBC by 2 or 3 standard deviations (SDs). Four components of the CBC were examined and employed to define an abnormal CBC: low white blood cell count (WBC), high mean corpuscular volume (MCV), low platelet count, and low hemoglobin concentration. Association of treatment exposures to abnormal values was assessed with a multilevel logistic model. RESULTS: There were 1297 patient visits during 1401 person-years of follow-up. The mean number of visits per survivor was 6.7 (SD 4.2). The cumulative percentage of subjects with at least one abnormal CBC was 70%. The cumulative percent of subjects with a value abnormal by 2 SD was WBC = 23%, MCV = 37%, platelets = 9%, hemoglobin = 49%. For values abnormal by 3 SD, the frequencies were WBC = 3%, MCV = 20%, platelets = 1%, hemoglobin = 27%. None of the patients developed myelodysplastic syndrome or a secondary leukemia during the follow-up period. Exposure to epipodophyllotoxins was associated with an increased risk of having abnormally high MCV values. CONCLUSIONS: Mildly abnormal CBC values are common in survivors of childhood cancer. Abnormal values are often of questionable significance but seem to persist over time. Epipodophyllotoxin therapy was found to be associated with increased frequency of high MCV levels.

Adolescent↗
PubMed1987

Binding of morphologically abnormal sperm to mouse egg zonae pellucidae in vitro.

The ability of morphologically abnormal mouse sperm to bind to the zona pellucida of the egg was examined with techniques of fertilization in vitro. After incubation with sperm, cumulus-free ova were scored by either phase microscopy or scanning electron microscopy for the number and type of sperm bound. The percentages of abnormal sperm bound to zonae were compared to the percentages of abnormal sperm in the inseminating suspension. In general, all abnormal classes (except broadly spatulate sperm) bound to zonae at a frequency significantly lower than their representation in the inseminating suspension. However, when the percentage of abnormal sperm was quite high, no significant difference existed between frequencies of abnormal sperm bound and in the inseminating solution. The percentage of abnormal sperm bound did not increase significantly over time. Scanning electron microscopy studies demonstrated that the association of abnormal sperm with the zona pellucida varied according to sperm morphology. Normal and some abnormal sperm bound at an angle perpendicular to the zona, while more grossly abnormal sperm bound to ova tangentially.

Acrosome↗
PubMed2003

Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency.

OBJECTIVE: To determine the accuracy and practicality of fetal echocardiography in the identification of structural and functional cardiac abnormalities prior to 16 weeks' gestation in fetuses with increased nuchal translucency thickness (NT). METHODS: Between January 1996 and June 2002 early fetal echocardiography using the transvaginal route was performed at 12-16 weeks' gestation on 275 fetuses with increased NT. The abnormal cardiac findings were classified as either structural (congenital heart defects) or functional, defined as transient phenomena which might later disappear, such as isolated tricuspid regurgitation and an enlarged ascending aorta. The abnormal findings were related to pregnancy outcome, including autopsy results, karyotyping results, and late fetal and neonatal echocardiography. RESULTS: Cardiac abnormalities were present in 61 fetuses overall (22.2%); including structural cardiac defects in 37 fetuses (13.5%) and functional abnormalities in 24 fetuses (8.7%). Structural cardiac abnormalities were associated with abnormal karyotype in 24 fetuses and normal karyotype in 13 fetuses. Of the 24 fetuses with functional cardiac abnormalities, 2 (8.3%) had isolated tricuspid regurgitation and 22 (91.7%) had enlarged ascending aorta. Abnormal karyotype was present in this group in 4 cases (16.7%). CONCLUSION: Increased NT can be used to define a high-risk group that should receive specialized early fetal echocardiography. This is a reliable technique with great potential for the diagnosis of both structural and functional cardiac abnormalities.

Adolescent↗
PubMed1998

Patterns of neurophysiological abnormality in prolonged critical illness.

OBJECTIVE: To describe the various patterns of neurophysiological abnormalities which may complicate prolonged critical illness and identify possible aetiological factors. DESIGN: Prospective case series of neurophysiological studies, severity of illness scores, organ failures, drug therapy and hospital outcome. Some patients also had muscle biopsies. SETTING: General intensive care unit (ICU) in a University Hospital. PATIENTS: Forty-four patients requiring intensive care unit stay of more than 7 days. The median age was 60 (range 27-84 years), APACHE II score 19 (range 8-33), organ failures 3 (range 1-6), and mortality was 23%. RESULTS: Seven patients had normal neurophysiology (group I), 4 had a predominantly sensory axonal neuropathy (group II), 11 had motor syndromes characterised by markedly reduced compound muscle action potentials and sensory action potentials in the normal range (group III) and 19 had combinations of motor and sensory abnormalities (group IV). Three patients had abnormal studies but could not be classified into the above groups (group V). All patients had normal nerve conduction velocities. Electromyography revealed evidence of denervation in five patients in group III and five in group IV. There was no obvious relationship between the pattern of neurophysiological abnormality and the APACHE II score, organ failure score, the presence of sepsis or the administration of muscle relaxants and steroids. A wide range of histological abnormalities was seen in the 24 patients who had a muscle biopsy; there was no clear relationship between these changes and the neurophysiological abnormalities, although histologically normal muscle was only found in patients with normal neurophysiology. Only three of the eight patients from group III in whom muscle biopsy was performed had histological changes compatible with myopathy. CONCLUSIONS: Neurophysiological abnormalities complicating critical illness can be broadly divided into three types -- sensory abnormalities alone, a pure motor syndrome and a mixed motor and sensory disturbance. The motor syndrome could be explained by an abnormality in the most distal portion of the motor axon, at the neuromuscular junction or the motor end plate and, in some cases, by inexcitable muscle membranes or extreme loss of muscle bulk. The mixed motor and sensory disturbance which is characteristic of 'critical illness polyneuropathy' could be explained by a combination of the pure motor syndrome and the mild sensory neuropathy. More precise identification of the various neurophysiological abnormalities and aetiological factors may lead to further insights into the causes of neuromuscular weakness in the critically ill and ultimately to measures for their prevention and treatment.

Adult↗
PubMed2004

Quantitative cholescintigraphy and bile abnormalities in patients with acalculous biliary pain.

Acalculous biliary pain has been related to gallbladder dysfunction that produces a gallbladder emptying defect-a condition which favours the development of lithiasis. It is therefore probable that microlithiasis is present in patients with gallbladder dysfunction. The aims of this study were to measure gallbladder emptying and investigate bile abnormalities in patients with acalculous biliary pain. In 92 consecutive patients, gallbladder emptying was assessed by quantitative cholescintigraphy (abnormal ejection fraction < or =40%). In 64 patients, a microscopic study was performed on duodenal bile, defining abnormality as the presence of cholesterol crystals in any amount and/or calcium bilirubinate granules and/or microspheroliths at a rate of >10 per slide. The ejection fraction was abnormal in 45 patients (49%) (median 25.1%, range 6.8-39.3%) and normal in the remaining 47 cases (median 71.3%, range 41.0-96.1%). Bile was abnormal in 32 of 64 patients (50%), the most frequent finding being calcium bilirubinate granules. In the patients with bile abnormalities, abnormal ejection fraction was more frequent (20 of 32) and the median ejection fraction was lower (30.9%, range 12.0-94.1%) than in the patients with normal bile (16 of 32 with an abnormal ejection fraction; median ejection fraction 50.7%, range 6.8-96.1%). Abnormal bile was frequent (55.5%) in patients with reduced ejection fraction, but was not uncommon in patients with normal ejection fraction (33.3%). Fewer patients showed no alteration (25%). It is concluded that in most patients, acalculous biliary pain coexists with gallbladder dysfunction or abnormal bile, the combination of both alterations being common.

Abdominal Pain↗
PubMed1993

Mammographic abnormalities and the detection of carcinoma of the breast.

OBJECTIVE: In an attempt to reduce the number of unnecessary breast biopsies, the yield rate of cancer relative to specific types of mammographically detected abnormality was investigated. STUDY DESIGN: Between 1989 and 1991, 169 patients with an abnormality as detected by mammogram but with no palpable mass were reviewed. Abnormalities detected by mammogram were divided into four types. The rate of biopsy-confirmed cancer per type of abnormality was calculated. RESULTS: The incidence of cancer per type of mammographically detected abnormality was as follows: mass 11%, mass with abnormal calcification 21%, abnormal calcification 22%, and asymmetric density 2%. CONCLUSION: Biopsy is recommended for mammographically detected abnormalities of a mass, a mass with abnormal calcification, and abnormal calcification without mass. Consideration should be given to deferring biopsy in favor of a follow-up study for asymmetric densities.

Biopsy↗
PubMed1983

Evoked potential abnormalities in myotonic dystrophy.

Past investigators have reported evidence of central nervous system involvement in myotonic dystrophy (MYD), including EEG abnormalities, ventricular enlargement, thalamic inclusion bodies, and impaired tests of cognitive function. Brain stem auditory evoked potentials have not been reported in myotonic dystrophy. We report the results of brain stem auditory (BAEP) and median nerve somatosensory (MSSEP) evoked potentials in 15 patients with MYD (9 males, 6 females, mean age = 35.8 +/- 11.4 years). BAEPs were abnormal in 53.3% (P less than 0.05). Four patients had abnormal wave I-III interwave latencies, 3 had abnormal wave III-V latencies, and 1 patient had both wave I-III and wave III-V latencies prolonged. MSSEPs were abnormal in 13.3% (P N.S.). Both patients showed a delay of the P15-N19 thalamic complex. Both patients had a normal clinical sensory examination and normal peripheral nerve conduction. No correlation was found between abnormal evoked potentials and patient age. A sex difference, however, was noted with 8/9 males having one or more abnormal evoked potentials compared with 0/6 females. Though our finding of abnormal MSSEPs was not statistically significant, both patients showed delay at the thalamic level, where pathology has been described. Abnormal ocular pursuit and sluggish pupillary reaction have implicated brain stem involvement in MYD. The abnormal BAEPs at the level of the pons and midbrain in this study provide neurophysiological evidence of brain stem pathology in MYD.

Adult↗
PubMed1983

Chromosome abnormalities in B-cell prolymphocytic leukemia: a study of nine cases.

Chromosome abnormalities were demonstrated in 50-100% of Giemsa-banded metaphases from nine cases of B-cell prolymphocytic leukemia (B-PLL). Mitoses were obtained with pokeweed mitogen following pretreatment of peripheral blood (PB) prolymphocytes with neuraminidase-galactose oxidase. Chromosome 14 was abnormal in eight of the nine cases: a marker 14q+, with breakpoint at band q32 in seven and trisomy 14 in one. In four cases the abnormal No. 14 was one of several primary abnormalities and in four others it was seen in secondary clones. The origin of the translocated material was unknown in three cases, in two it resulted from t(11;14), later becoming t(11;14;21) in one of them, t(1;14) in another, progressing later to t(1;14;17); in yet another patient, the 14q+ was the result of a complex rearrangement t(6;14;17). Abnormalities of chromosome 6 were seen in six cases: 6q- as the primary abnormality in three; trisomy 6 was part of secondary changes in one case. Structural abnormalities of chromosome 1 were seen in six cases: 1q- in four (in one as the only abnormality), 1q+ in one case, and 1p- in another, both in the main clone. Trisomy 12 was demonstrated in three cases but not as the primary change. Spleen cells in two patients showed a higher frequency of abnormalities than in the PB, supporting the concept of the spleen being the organ primarily involved in B-PLL. Evidence of karyotypic evolution was demonstrated in six patients, in some clearly associated with clinical progression of the disease. The type and frequency of the abnormalities observed in B-PLL resemble those seen in non-Hodgkin's lymphomas and suggest major differences from B-CLL, although a relationship with the latter can not be completely ruled out at present.

Aged↗
PubMed1987

Chromosomal abnormalities in indolent lymphoma.

Cytogenetic studies were performed on lymph node biopsies from 60 patients with indolent (low grade) non-Hodgkin's lymphoma. Thirty-two of the 39 successfully cultured biopsies had abnormal clones. The 32 abnormal clones represented the following histologies: seven small lymphocytic lymphoma (SL), eight follicular small cleaved cell lymphoma (FSC), 14 follicular mixed, small cleaved, and large cell lymphoma (FM), and three composite lymphomas. One of the composite lymphomas had FSC/DSC (diffuse small cleaved cell) and the other two FM/DM (diffuse mixed, small cleaved and large cell). Twenty-seven of the 32 biopsies were immunologically typed, and all were B cell. The clones all exhibited more structural than numerical abnormalities, and there was no difference in the modal chromosome number of the abnormal clones found in each histology. Biopsies with no normal cells were more frequently found in the SL histology (71%) than in the two follicular lymphoma groups (54%-55%). A translocation of the 14q32 segment was the most common abnormality found in all three histologies. In the follicular lymphomas a t(14;18)(q32;q21) was seen in 52% (13 of 25) of these patients, this translocation was not observed in the SL patients. Overall 84% (21 of 25) of the follicular lymphoma patients had abnormalities of 14q32 and/or 18q21. Other specific abnormalities included anomalies of chromosome #3 in FM, an abnormal 10q in FSC and FM lymphoma, and a high incidence of +18 and chromosome #1 abnormalities in patients with t(14;18). The presence of specific chromosome abnormalities in the indolent lymphoma patients suggests a relationship between certain karyotypic features and histology.

Adult↗