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PubMed1995

PEAPS-Q: a questionnaire to measure the psychosocial effects of having an abnormal pap smear. Psychosocial Effects of Abnormal Pap Smears Questionnaire.

We have developed the Psychosocial Effects of Abnormal Pap Smears Questionnaire (PEAPS-Q) which measures distress experienced by women undergoing follow-up investigation after an abnormal Pap smear result. A thorough literature review and qualitative research resulted in the development of a questionnaire which was tested on 350 women attending a Family Planning New South Wales (FPNSW) clinic. This sample included women at different stages of management after detection of a cervical abnormality: 93 first colposcopy clients and 257 follow-up colposcopy clients. Factor analysis identified four dimensions of distress: experience of medical procedures, beliefs/feelings about cervical abnormality and changes in perception of oneself, worry about infectivity and effect on sexual relationships. Repeatability of the PEAPS-Q was indicated by intra-class correlations of 0.88 overall and at least 0.60 for each scale. Internal consistency was shown by Cronbach's alpha of 0.84 overall and at least 0.72 for each scale. Validity was demonstrated by the correlation of scale scores with the 12-item General Health Questionnaire (GHQ) score of 0.32 (95% CI 0.22-0.41). The PEAPS-Q is a valid, reliable and multidimensional instrument for quantifying distress experienced by women with abnormal Pap smears.

Adult↗
PubMed2004

Frequency of EEG abnormalities in age-matched siblings of autistic children with abnormal sleep EEG patterns.

Epileptiform activity in sleep has been described even in the absence of clinical seizures in 43-68% of patients with autistic spectrum disorders (ASDs). Genetic factors may play a significant role in the frequency of epilepsy, yet the frequency in normal age-matched controls is unknown. We studied overnight ambulatory electroencephalograms (EEGs) in 12 nonepileptic, nonautistic children with a sibling with both ASDs and an abnormal EEG. EEG studies were read and described independently by two pediatric epileptologists; 10 were normal studies and 2 were abnormal. The occurrence of abnormal EEGs in our sample (16.6%) was lower than the reported occurrence in children with ASDs. Further, the two abnormal EEGs were of types typically found in childhood and were different from those found in the ASD-affected siblings. The lack of similarity between sibling EEGs suggests that genetic factors alone do not explain the higher frequency of EEG abnormalities reported in ASDs.

Autistic Disorder↗
PubMed2003

Abnormal left ventricular filling with increasing age reflects abnormal myocardial characteristics independent of ischemia or hypertrophy.

Abnormal left ventricular (LV) filling may occur with increasing age despite apparently normal LV size and function, and is usually attributed to LV hypertrophy and coronary artery disease. The purpose of this study was to determine whether myocardial abnormalities could be identified in 67 such patients (36 men, mean age 57 +/- 9 years) whose LV hypertrophy and coronary artery disease were excluded by dobutamine echocardiography. All patients underwent gray scale and color tissue Doppler imaging from 3 apical views, which were stored and analyzed off line. Disturbances in structure and function were assessed by averaging the cyclic variation of integrated backscatter, strain rate, and peak systolic strain from each myocardial segment. Calibrated integrated backscatter (corrected for pericardial backscatter intensity) was measured in the septum and posterior wall from the parasternal long-axis view. Abnormal LV filling was present in 36 subjects (54%). Subjects with and without abnormal LV filling had similar LV mass, but differed in age (p <0.01), cyclic variation (p = 0.001), strain rate (p <0.01), and peak systolic strain (p <0.001). Multivariate logistic regression analysis demonstrated that age (p = 0.016) and cyclic variation (p = 0.042) were the most important determinants of abnormal LV filling in these apparently normal subjects.

Age Factors↗
PubMed2005

No prognostic effect of additional chromosomal abnormalities in children with acute lymphoblastic leukemia and 11q23 abnormalities.

This study characterized the additional chromosomal abnormalities (ACA) associated with 11q23 rearrangements in 450 infants and children with acute lymphoblastic leukemia (ALL) and examined the impact of these ACA on survival. Overall, 213 (47%) cases had ACA but the incidence varied according to patient age and 11q23 subgroup. Infants and patients with t(4;11)(q21;q23) had the lowest incidence of ACA (50/182 (27%) and 57/216 (26%) respectively), whereas patients with del(11)(q23) had the highest incidence (66/93 (71%)). Del(11)(q23) abnormalities were heterogeneous and occasionally secondary to t(9;22)(q34;q11.2). Thus, patients with del(11)(q23) comprised a separate biological entity, which was clearly distinct from those with an 11q23 translocation. The most frequent specific ACA were trisomy X (n = 38), abnormal 12p (n = 32), abnormal 9p (n = 28) and del(6q) (n = 19). The presence of ACA did not change the 5 year event-free survival estimates among children (56% (95% Cl 46-65%) vs 62% (54-69%)) or infants (22% (15-29%) vs 18% (9-29%)), nor when the different 11q23 subgroups were analyzed separately. This study has conclusively demonstrated that there is no prognostic effect of secondary chromosomal changes in association with 11q23 abnormalities in childhood ALL. However, characterization of these ACA is important to determine their potential role in initiation of MLL driven leukemogenesis.

Child↗
PubMed1998

IL-4 improves the detection of cytogenetic abnormalities in multiple myeloma and increases the proportion of clonally abnormal metaphases.

In the present study the incidence of abnormal karyotypes and the number and proportion of abnormal metaphases obtained in multiple myeloma (MM) using three culture conditions were compared: unstimulated culture (72 h), IL-6/GM-CSF-stimulated culture (120 h) and IL-4-stimulated culture (120 h). The three types of culture conditions were assessed simultaneously on bone marrow samples from 30 consecutive myeloma patients. In addition DNA content (DNA ploidy and cell cycle) was analysed by flow cytometry. The number of MM samples with clonal karyotypic abnormalities was higher after IL-4-stimulated cultures (53%) than it was after IL-6 + GM-CSF (37%) and unstimulated (30%) cultures. The benefit of IL-4 was also observed in cases with low numbers of plasma cells in the bone marrow, in early clinical stages and in untreated patients. In those cases in whom clonal chromosomal abnormalities were detected by the three culture methods. the cytogenetic findings were always identical. According to our results the addition of IL-4 to the cultures of bone marrow cells in MM increases the number of abnormal metaphases.

Aged↗
PubMed2004

Relationships between depolarization abnormality and repolarization abnormality in patients with Brugada syndrome: using body surface signal-averaged electrocardiography and body surface maps.

INTRODUCTION: Repolarization and depolarization abnormalities have been reported to be related to Brugada syndrome. METHODS AND RESULTS: We evaluated the relationships between repolarization abnormality and depolarization abnormality using 48-lead unipolar signal-averaged electrocardiograms and 87-lead unipolar body surface maps in 15 patients with Brugada-type ECGs. Data were compared with those from healthy control subjects (n = 5) and within subgroups of Brugada syndrome with (n = 8) and without (n = 7) ventricular arrhythmias (VA) induced by programmed electrical stimulation (PES). Eighty-seven-lead body surface maps were recorded, and potential maps were constructed to evaluate elevation of the ST segment 20 ms after the J point. Forty-eight-lead signal-averaged ECGs were recorded, and isochronal maps of duration of the delayed potential (dDP) were constructed to evaluate the dDP in each lead. Potential maps showed that patients with Brugada-type ECG, especially those with VA induced by programmed electrical stimulation, had greater elevation of the ST segment in the right ventricular outflow tract, especially at E5. Isochronal maps of dDP in the Brugada-type ECG group showed that maximum dDP was located at E5 and that the area with long dDP was larger than that in the control subjects. The dDPs at E7, E5, F7, and F5 in the VA-inducible group were significantly longer than those in the VA-noninducible group. These results showed that the location of greater elevation in the ST segment coincided with the location of longer dDP. CONCLUSION: Repolarization abnormality and depolarization abnormality in the walls of both ventricles, especially in the right ventricular outflow tract, are related to the VA of Brugada syndrome.

Adult↗
PubMed1984

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality.

Cytogenetic investigation was carried out on 231 female patients referred for suspected sex chromosome abnormality. Cases were classified into five groups according to reason for referral and chromosome abnormality frequency was estimated. The overall frequency of abnormal karyotypes was 38.5%. The rate of positive identification of chromosome abnormality ranges from 0 in patients with secondary amenorrhoea to 80% in those with Turner phenotype. Our data demonstrate that the indications for referral of female patients with suspected sex chromosome abnormality are not only primary amenorrhoea alone or short stature and primary amenorrhoea without Turner stigmata, but also short stature of unknown etiology without any additional anomaly during childhood.

Adolescent↗
PubMed1988

Antenatal diagnosis of congenital abnormalities in the urinary tract. Results from the Northern Region Fetal Abnormality Survey.

One hundred and sixty-two cases of suspected congenital abnormalities of the urinary tract notified to the Northern Region Fetal Abnormality Survey Register between the beginning of 1984 and the end of 1986 were studied. These cases represented 14.3% of total notifications, which in turn were 0.93% of total births. There were a further 25 cases notified but not due for delivery until early 1987; 10 of these were urological. Thirty-five cases (22%) notified proved postnatally to have normal urinary tracts and 21 (13.2%) had unsuspected urinary tract abnormalities. Of the 106 cases in which a suspected urinary tract abnormality was confirmed postnatally, confirmation was obtained at perinatal death in 32 and by ultrasound, radiographic and radioisotope investigation in the remainder; 34.5% of all urological cases registered and 75% of the confirmed survivors were treated surgically. The urological abnormality most frequently missed was posterior urethral valves. Attempts to diagnose the fetal sex were seldom made but when they were the prediction was usually male and usually correct. The perinatal mortality in this group was 0.43/1000 births, a contribution of nearly 4% to overall perinatal mortality in the Northern Region.

Female↗
PubMed1984

Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis.

Polygraphic (including apexcardiograms and carotid pulse tracings) and M mode echocardiographic examinations were carried out in 34 symptomatic patients with Marfan's syndrome; similar studies were performed in 32 relatives and in 34 young patients with kyphoscoliotic disease. The purpose of these investigations was to determine the association between cardiac and oculoskeletal abnormalities and to identify specific patterns of disease with a poor prognosis. Polygraphic tests showed significant changes in all patients with Marfan's syndrome: 74% showed the apical systolic click and murmur of mitral valve prolapse; 48% had the diastolic murmur of aortic regurgitation; isolated mitral valve prolapse was found in 52%, 26% had isolated aortic regurgitation, and 22% had a combination of the two. Echocardiographic changes were also found in all patients: 79% had aortic root dilatation; 48% fluttering of the anterior mitral leaflet; 79% mitral valve prolapse, mostly pansystolic; 34% both mitral prolapse and aortic root dilatation; and 34% left ventricular dilatation. The severities of the cardiac and oculoskeletal abnormalities were not correlated. The high prevalence of mitral valve prolapse found in these patients, which did not vary with age or sex, was also present in their relatives: mitral prolapse was present in 38% and aortic dilatation, with or without regurgitation, in 14%. Four of the relatives had clearcut Marfan's syndrome, and at least four others a forme fruste. The metacarpal index was abnormal in 41% of the relatives; ocular abnormalities were rare. In kyphoscoliotic patients only an increase in the prevalence of mitral prolapse (18.2% in women, none in men) was found. These findings underline a complex pattern of association between cardiac, ocular, and skeletal abnormalities in patients with Marfan's syndrome and confirm an appreciable inheritability of several of the markers of the disease.

Adolescent↗
PubMed2001

Correlation of abnormal intracranial vessel velocity, measured by transcranial Doppler ultrasonography, with abnormal conjunctival vessel velocity, measured by computer-assisted intravital microscopy, in sickle cell disease.

The Stroke Prevention Trial has confirmed that utilization of transcranial Doppler ultrasonography (TCD), which examines blood flow in large intracranial vessels, can identify children with sickle cell disease (SCD) who are at high risk of developing a premature stroke. It is not known to what extent the vasculopathy in SCD involves small vessels and whether the abnormalities, if present, correlate with large-vessel vasculopathy. Eighteen children with SCD were examined with TCD to determine middle cerebral artery (MCA) velocity and computer-assisted intravital microscopy (CAIM) to determine bulbar conjunctival vessel velocity during the same visit for vasculopathy correlation. High MCA velocity (> or = 200 cm/sec) was found by TCD in 4 patients who also showed abnormal conjunctival velocity (< 0.2 mm/sec or intermittent trickle flow) by CAIM. Three patients had conditional (> or = 170 cm/sec and < 200 cm/sec) MCA velocity: 2 showed abnormal (trickle) and 1 showed normal conjunctival velocity (1.9 mm/sec). One patient with unmeasurable MCA velocity had abnormal (trickle) conjunctival velocity. Of the remaining 10 patients who had normal MCA velocity, 2 showed abnormal (0.05 mm/sec and 0.1 mm/sec) and 8 showed normal conjunctival velocities (1.1-2.4 mm/sec). The MCA velocities correlated significantly with bulbar conjunctival flow velocities (P < or =.008, Fisher exact test). A correlation exists between MCA (large-vessel) and conjunctival (small-vessel) flow velocities. CAIM is a noninvasive quantitative technique that might contribute to the identification of SCD patients at high risk of stroke. Small-vessel vasculopathy might be an important pathological indicator and should be further explored in a large-scale study. (Blood. 2001;97:3401-3404)

Adolescent↗
PubMed1998

Abnormal ventricular looping and abnormal laterality of the atrial chambers are the main morphogenetic mechanisms of cardiac lesions in cultured rat embryos treated with retinoic acid.

To establish the early morphogenetic mechanism in retinoid induced cardiac lesions, we investigated the morphology of the heart in cultured rat embryos treated with retinoic acid (RA) at 9.0 and 9.5 days post coitum (d.p.c). Wistar rat embryos were treated with RA (2 x 10(-7) M) for 6 hours from the embryonic day equivalent of 9.0 or 9.5 d.p.c. After further culture in an RA free medium for 2.5 days, embryos were fixed and examined with a stereomicroscope and a scanning electron microscope. Sixty three embryos were treated at 9.0 d.p.c., 14 embryos were treated at 9.5 d.p.c. and 30 embryos were used as control. Abnormal ventricular looping was seen in 31 embryos (49.2%) from the group treated at 9.0 d.p.c., and isomerism of right appendages occurred in 15 (23.8%). Embryos treated with RA at 9.5 d.p.c. showed a low incidence of abnormal ventricular looping (14.3%). We could summarize those abnormal looping as three variants of each looping. The mildest form was hypoplasia of the right ventricle observed in 20 cases. Both the right and left ventricles in the second variant were shifted far to the left or right (10 cases). The third variant was a heart with generalized hypoplasia of both ventricles (3 cases). The incidence of branchial arch anomalies was higher at 9.5 d.p.c. than at 9.0 d.p.c. (71.4% and 30.2%, respectively). Abnormalities in the ventricular looping and the atrial laterality at 9.0 d.p.c. suggest that RA induces derangement in the development of laterality, while at 9.5 d.p.c., the abnormality of the migration of neural crest cells is the principal mechanism.

Animals↗
PubMed2000

Correlation between cytogenetic abnormalities and disease characteristics in multiple myeloma: monosomy of chromosome 13 and structural abnormalities of 11q are associated with a high percentage of S-phase plasma cells.

BACKGROUND AND OBJECTIVES: Cytogenetic studies in multiple myleoma (MM) are limited by the difficulties in obtaining metaphases that can be investigated and few studies have analyzed the relationship between cytogenetics and clinical disease characteristics. The aim of our study was to analyze the recurrent cytogenetic changes in MM and to correlate them with clinical and biological characteristics including the percentage of S-phase plasma cells (PCs). DESIGN AND METHODS: Chromosomal abnormalities were analyzed in 86 patients with MM. In all patients, two types of cultures (5 d culture with interleukin-4 and unstimulated 72 h culture) were used for cytogenetic analysis. DNA content analysis (ploidy and cell cycle analysis) together with the most relevant clinical and biological disease features were studied. RESULTS: Cytogenetic analysis was successful in 72 of the 86 patients (84%). Forty-seven patients (65%) had an abnormal karyotype. The most frequent trisomies involved chromosomes 3, 5, 9, 11, 15, 19, 22, 1, 7, 17, 18, and 21, and monosomies affected chromosomes 13 and 8, while structural changes involved chromosomes 1, 11, 14q32, 4p16 and 16q22-23. Patients with abnormal karyotype displayed a poor performance status, advanced stage, anemia and a high percentage of bone marrow plasma cells. In addition, MM patients with -13/13q- and 11q abnormalities showed a significantly higher proportion of S-phase PCs (p=0.02). INTERPRETATION AND CONCLUSIONS: In summary, our study shows a relationship between unfavorable cytogenetics (-13/13q-/11q abnormalities) and a high percentage of S-phase PCs, a well-known adverse prognostic factor.

Aged↗
PubMed2000

The risks of prostate cancer detection by transrectal ultrasound guide biopsy in Thai men with abnormal prostatic-specific antigen or abnormal digital rectal examination.

OBJECTIVE: To determine the risks of prostate cancer detection in Thai men with abnormal prostatic-specific antigen (PSA) or abnormal digital rectal examination (DRE). MATERIAL AND METHOD: One hundred and forty four Thai men with abnormal PSA or abnormal DRE or both were biopsied at the prostate gland with the use of transrectal ultrasound guide biopsy (TRUSBX). The risks of prostate cancer detection were evaluated. RESULTS: Mean age was 65.7 years old (S.D. = 9.88). The risks of positive biopsy according to the PSA levels of 0-4 ng/ml, 4.1-10 ng/ml, 10.1-20 ng/ml, 20.1-50 ng/ml, 50.1-100 ng/ml and more than 100 ng/ml were 6.25 per cent, 6.67 per cent, 10.8 per cent, 33.3 per cent, 60 per cent and 100 per cent, respectively. The risks of positive biopsy according to DRE appearances of total hard consistency, nodule, induration and benign prostatic hyperplasia were 57.1 per cent, 23.5 per cent, 34.6 per cent and 10 per cent, respectively. Of 144 men, 32 had adenocarcinoma of prostate. Radical prostatectomy was performed on 15 patients with clinically localized disease. Ten patients (66.6%) had free margin on their pathological specimens and 6 (40%) had organ confined disease. CONCLUSION: PSA testing alone or DRE alone is not a perfect test to diagnose prostate cancer since prostate cancer may present in men with normal PSA or men with no suspicious cancer DRE. For early detection of prostate cancer, both PSA testing and DRE need to be performed. When either PSA testing or DRE or both is abnormal, TRUSBX should be carried out.

Adenocarcinoma↗
PubMed1983

Antithrombin III Padua: a "new" congenital antithrombin III abnormality with normal or near normal activity, normal antigen, abnormal migration and no thrombotic disease.

A "new" antithrombin III abnormality is described in four members of a family. The proposita is a 38 years old female who showed no thrombotic disease and the following laboratory pattern: normal routine clotting tests, normal or near normal AT III activity (chromogenic substrates S-2238 and Chromozym Th) both in plasma and in serum and in the presence or absence of heparin, slightly decreased antifactor Xa activity (chromogenic substrate S-2222), normal progressive antithrombin, normal AT III antigen but abnormal migration in the agarose-heparin bidimensional system. In the latter test, one major abnormal peak, less anodal than the normal counterpart, and a smaller, apparently normal peak, were seen. In agarose without heparin the pattern was similar to normal both in plasma and in serum. Heparin tolerance to heparin in vivo and in vitro was slightly increased but still within normal limits. The two sons and a paternal aunt showed the same pattern. The hereditary pattern seems therefore autosomal dominant. The abnormality described appears different from AT III Budapest. The toponym of antithrombin III Padua is proposed to define this peculiar abnormality.

Adult↗
PubMed1995

Definition of abnormal focused affections and exploration of their relation to abnormal stereotyped behaviors.

The relation between abnormal stereotyped behaviors and abnormal focused affections (i.e., abnormally consistent preferences for specific objects, symbols, and/or physical locations) was examined in 20 children with developmental disabilities. Results indicated that (a) all children who exhibited abnormal focused affections exhibited stereotypies; (b) abnormal focused affections could be studied reliably in individuals with developmental disabilities through the use of direct time-sampling observations, naturalistic observations, and informant reports; and (c) developmental age was significantly related to the frequency of (and the number of different) stereotyped behaviors and the frequency of nonstereotyped (i.e., developmentally appropriate) behaviors exhibited across the sample. Results also provide preliminary support for the notion of a general stereotyped behavioral repertoire in individuals with developmental disabilities.

Adolescent↗
PubMed1994

Chromosomal abnormalities detected after an abnormal ultrasound in pregnancy.

Improvements in ultrasound technology have resulted in an increasing number of requests for prenatal chromosome testing because of fetal abnormalities detected in utero. Between January 1990--January 1991, 388 tissue samples were referred to our laboratory for cytogenetic analysis, of which 202 were amniotic fluids samples, 157 chorionic villus biopsies and 29 fetal blood specimens. Of these 54 were referred for fetal abnormalities detected prenatally on high resolution ultrasound. Chromosomal analysis was successful in 50 cases, and included 6 (12%) chromosomally abnormal fetuses: 2 trisomy 21, 2 trisomy 18, one 45,X and one unbalanced translocation. The maternal age for three of the four cases of autosomal trisomy were below 35 years (the cut-off for amniocentesis for advanced maternal age). In contrast, 273 prenatal chromosome studies performed for advanced maternal age (AMA) produced only 4 (1.5%) chromosomally abnormal fetuses. These abnormalities detected on ultrasound indicate a significant population of fetal chromosomal aberrations which would otherwise not be detected prenatally.

Adult↗
PubMed1989

Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).

We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X-linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).

Abnormalities, Multiple↗
PubMed1975

An investigation of the correlation between abnormal patterns of ocular microtremor and an abnormal pupil reflex in neurological patients.

Twenty-two patients and 7 normal subjects at the Burdenko Institute of Neurosurgery, Moscow, have taken part in an investigation in which the direct light reflex to a brief flash, and the high-frequency microtremor of the eyes, have been recorded. The direct pupil reflex recordings obtained with a flash of 20 msec duration and 100 lux intensity at the plane of the pupil were registered from the right eye of each patient. Ocular microtremor recordings were obtained simultaneously from both eyes of 20 of the patients. A set of criteria of abnormality of ocular microtremor, as judged by visual examination of the records, is proposed by the authors. Abnormality of the pupil reflex is assessed in terms of the amplitude, latent period, and time course of the contraction and relaxation phases of the reflex. A strong correlation has been found between the occurrence of an abnormal ocular tremor record and an abnormal pupil reflex. On the basis of this correlation, the authors propose that ocular tremor recordings may be used in diagnosis as sensitive indicators of brain-stem dysfunction.

Brain Diseases↗