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PubMed1999

[Renal and urinary tract abnormalities in small children].

The purpose of this study was to investigate frequency and pattern of urological abnormalities in children younger than two years of age in the county of Frederiksborg, Denmark, with a catchment area of about 350,000 people, and furthermore to investigate in which way the urological abnormalities were diagnosed. From 1994-1996 a total of 35 children younger than two years of age were found to have urological abnormalities. Fourteen patients had a ultrasonographical prenatally diagnosed urological abnormality, which was confirmed postnatally. Twenty-one children were diagnosed with urological abnormalities after presentry with their first urinary tract infection. The obstructive urological diagnoses: congenital hydronephrosis, congenital megaureter and posterior urethral valves made up to 57% (20/35) of the abnormalities. Nine boys were operated upon; three for unilateral hydronephrosis, two for posterior urethral valves, one for unilateral megaureter and three for phimosis. Two girls were treated with oestrogen for labial fusion. Urological abnormalities which were treated were found among the ultrasonographically diagnosed abnormalities, apart from phimosis and labial fusion. The frequency of urological abnormalities was 0.25% in children younger than two years of age in Frederiksborg county. In conclusion, in 1994-1996 the frequency and pattern of urological abnormalities in Frederiksborg county was in accordance with the figures in the literature. Urological abnormalities requiring treatment were diagnosed in 11 children; 55% (6/11) ultrasonographically and 45% (5/11) by examination of the external genitalia of children younger than two years of age at the time of the first diagnosed urinary tract infection.

Abnormalities, Multiple↗
PubMed2000

Confirmation of visual field abnormalities in the Ocular Hypertension Treatment Study. Ocular Hypertension Treatment Study Group.

OBJECTIVE: To determine the frequency with which visual field abnormalities observed on follow-up visual fields for patients in the Ocular Hypertension Treatment Study were confirmed on retest. METHODS: Between April 1, 1994, and March 1, 1999, 21,603 visual fields were obtained from 1637 patients in the Ocular Hypertension Treatment Study. When follow-up visual fields are outside the normal limits on the Glaucoma Hemifield Test, the Corrected Pattern Standard Deviation (P<.05), or both, subsequent follow-up visual fields are monitored to confirm the abnormality. Abnormalities are confirmed if they are again abnormal on the Glaucoma Hemifield Test, the Corrected Pattern Standard Deviation, or both; if the defect is not artifactual; and if the same index and location are involved. Reliability criteria used by the study consisted of a limit of 33% for false positives, false negatives, and fixation losses. RESULTS: Of the 21,603 regular follow-up visual fields, 1006 were follow-up retests performed because of an abnormality (n = 748) or unreliability (n = 258). We found that 703 (94%) of the 748 visual fields were abnormal and reliable, and 45 (6%) were abnormal and unreliable. On retesting, abnormalities were not confirmed for 604 (85.9%) of the 703 originally abnormal and reliable visual fields. CONCLUSIONS: Most visual field abnormalities in patients in the Ocular Hypertension Treatment Study were not verified on retest. Confirmation of visual field abnormalities is essential for distinguishing reproducible visual field loss from long-term variability. Arch Ophthalmol. 2000;118:1187-1194

False Positive Reactions↗
PubMedDate not supplied

The impact of abnormal mammograms on psychosocial outcomes and subsequent screening.

Few studies have examined the impact of abnormal mammograms on subsequent mammography screening and psychosocial outcomes specifically as a function of the length of time that has passed since the abnormal test result. This cross-sectional report compared breast cancer screening practices and psychosocial outcomes among three groups of women. These groups were women who (1) never had an abnormal mammogram, (2) had an abnormal mammogram 2 or more years prior to the study's baseline interview, and (3) had an abnormal mammogram within 2 years prior to the study's baseline interview. Women who had an abnormal mammogram at least 2 years prior to the baseline interview expressed greater 10-year and lifetime risks of getting breast cancer than women who never had an abnormal mammogram. Women who had abnormal mammograms, independent of when they occurred, were substantially more worried about getting breast cancer than were women who never had abnormal mammograms. Women who had an abnormal mammogram within 2 years prior to the baseline interview were more likely to be on schedule for mammography, compared with women who never had an abnormal mammogram.

Adult↗
PubMed2002

Correlation between rare chromosomal abnormalities and prenatal ultrasound findings.

Our objective was to examine ultrasound findings with outcomes in cases of rare chromosomal abnormalities diagnosed during pregnancy. Results of cytogenetic studies obtained from amniocenteses and chorionic villus samplings (CVS) from 1994-2000 were reviewed. Only those examples of rare chromosomal abnormalities with little information on the associated outcome were included. Cases of autosomal trisomy (13, 18, and 21), sex chromosome aneuploidy, and reciprocal or Robertsonian translocations were excluded. Ultrasound findings and outcomes were reviewed. In all, 8,642 procedures of amniocenteses and 557 of CVS were performed; 21 cases met the inclusion criteria. Parental karyotypes were obtained for 19 couples and the karyotypic abnormalities were de novo in 13. Abnormal ultrasound findings were present in 14 pregnancies, with the following outcomes: seven underwent dilatation and evacuation (D&E), with abnormal findings in two (although examination was limited by fragmentation); one medical termination with micrognathia and low-set ears; one fetal demise; one neonatal demise; three surviving neonates with abnormalities (one each with congenital kyphosis, hydronephrosis, and hypotonia), and one newborn was normal. There were seven patients without abnormal ultrasound findings with the following outcomes: three underwent D&E, with abnormal findings in two, one child with a colobomatous optic nerve, and two apparently normal infants. Follow-up was not available in one patient. We conclude that when rare karyotypes and ultrasound abnormalities are present, poor outcomes are likely. Even with normal ultrasound findings, abnormalities may be present. These data may assist in counseling patients when testing reveals such chromosomal abnormalities.

Adult↗
PubMed1979

Abnormal retino-geniculate and geniculo-cortical pathways in several genetically distinct color phases of the mink (Mustela vison).

Several genetically distinct color phases of mink, which all show an abnormal reduction of pigment in the retinal pigment epithelium and which also show abnormalities of the retinofugal pathways, have been studied. Autoradiographic methods have been used to demonstrate the retino-geniculate pathways, and retrograde degeneration or the retrograde transport of horseradish peroxidase has been used for the geniculo-cortical pathways. The retino-geniculate abnormality is mild in some of the color phases and extremely severe in others, but within any one color phase the variability is relatively low. Although the severity of the abnormality varies between color phases, a rather specific pattern of abnormal geniculate innervation is recognizable for mink in general and this is distinct from that found in Siamese cats. In the abnormal mink the size of geniculate lamina A1 is reduced and there is an abnormal crossed input going to the intermediate sectors of this reduced layer. Layer C1 also receives an abnormal crossed input, but this is more variable than that going to A1 and there appears to be little correspondence, retinotopically, between the normal inputs to layers A1 and C1. In some of the abnormal mink there are interruptions within the cytoarchitectionically definable layer A1, and opposite these gaps reduplications of layer A are commonly seen, as though there is an intrinsic geniculate mechanism for generating the characteristic multilaminar geniculate structure. However, there are also numerous examples of fusions between layers receiving afferents from the same eye, and these demonstrate that the development of geniculate lamination must also be under the influence of the retinal inputs. The geniculo-cortical pathway shows a normal topography in most of the mink. Abnormal geniculo-cortical projections, comparable to the "Boston" pattern of Siamese cats are extremely rare, and their occurrence could not be correlated with the severity of the retino-geniculate abnormality or with the laminar pattern in the lateral geniculate nucleus. We suggest that the development of one or the other pattern of geniculo-cortical projection may depend upon the relative timing of the two mechanisms that produce the geniculate lamination.

Animals↗
PubMed1997

Intramedullary chondroid tumors of bone: correlation of abnormal peritumoral marrow and soft-tissue MRI signal with tumor type.

OBJECTIVE: To determine whether enchondromas and chondrosarcomas can be differentiated on the basis of peritumoral MR signal abnormality. DESIGN: STIR and T2-weighted MRI images were retrospectively assessed for the presence and extent of abnormal peritumoral marrow and soft-tissue signal. The cause of the peritumoral signal abnormality was determined by histologic correlation with resection specimens. The presence or absence of bone destruction was noted. PATIENTS: Twenty-three patients were studied: ten with enchondromas (three men, seven women; ages 33-73 years) and 13 with chondrosarcomas (seven men, six women; ages 25-88 years). RESULTS: Abnormal peritumoral marrow signal was present on STIR images around none of 10 enchondromas and all of 13 chondrosarcomas (P < 0.0001). The marrow signal abnormality corresponded histologically to fine marrow fibrosis in all cases. Adjacent abnormal soft-tissue signal was present on STIR images around none of ten enchondromas and eight (62%) of 13 chondrosarcomas (P = 0.0026). Abnormal soft-tissue signal was more common around high-grade than low-grade chondrosarcomas (100% vs 38%, P = 0.028), and was more extensive (mean extent 28 mm vs 8 mm; P > 0.04). In the subset of tumors without bone destruction, peritumoral marrow signal abnormality was present around none of ten enchondromas and all of five chondrosarcomas (P = 0.0003); abnormal soft-tissue signal was present around none of ten enchondromas and two of five chondrosarcomas (P > 0.05). CONCLUSION: Abnormal marrow or soft-tissue signal around a chondroid tumor is suggestive of chondrosarcoma, even in the absence of bone destruction. STIR images are necessary for adequate detection of peritumoral signal abnormalities.

Adult↗
PubMed1985

Baseline rest electrocardiographic abnormalities, antihypertensive treatment, and mortality in the Multiple Risk Factor Intervention Trial. Multiple Risk Factor Intervention Trial Research Group.

The overall results of the Multiple Risk Factor Intervention Trial (MRFIT) showed a nonsignificant 7% lower coronary artery disease (CAD) mortality rate in the special-intervention (SI) as compared to the usual-care (UC) group. The initial results also suggested that the SI program was more effective than UC in the community in reducing the CAD mortality rate in nonhypertensive persons than in hypertensive persons, and that the SI program used was more effective in reducing CAD deaths among men without than men with electrocardiographic (ECG) abnormalities at rest. Furthermore, an unfavorable mortality trend in hypertensive SI men with ECG abnormalities at rest compared with UC men was noted (adjusted relative risk of 1.67). Further analyses in baseline-defined subgroups indicated that (1) the most common ECG abnormalities at rest were high R waves and ST-T changes, (2) the CAD mortality differential (SI/UC) was similar in the subgroup with these abnormalities and in the subgroup with other abnormalities at rest, (3) the apparent excess CAD mortality among hypertensive SI men with ECG abnormalities at rest was manifested chiefly as sudden death within 1 hour, and (4) the association between ECG abnormalities at rest and the CAD mortality rate among hypertensive men was independent of the baseline level of blood pressure or of the findings on the exercise electrocardiogram. However, CAD mortality in those with abnormalities on the electrocardiogram both at rest and during exercise was lower in the SI than the UC group. A possible explanation for the difference in outcome in the baseline-defined subgroup was an unexpectedly low UC mortality rate. However, within-group analysis revealed an interaction between ECG abnormalities at rest and diuretic treatment in the SI group, with the risk of CAD death for men prescribed diuretic drugs relative to men not prescribed diuretic drugs estimated as 3.34 among men with baseline ECG abnormalities at rest and as 0.95 among men without such abnormalities. No such effect was found in the UC group, in which men generally were prescribed lower doses of hydrochlorothiazide and chlorthalidone than SI men. However, analyses do not suggest an effect of diuretic dose or of hypokalemia on the CAD mortality rate in treated SI participants. Although subgroup analyses must be interpreted with caution, particularly those that go beyond the randomized clinical trial design by the MRFIT, these findings pose hypotheses for investigation by other researchers in systemic hypertension and may have implications for therapy.

Antihypertensive Agents↗
PubMed1991

Regional myocardial perfusion and metabolism assessed by positron emission tomography in children with Kawasaki disease and significance of abnormal Q waves and their disappearance.

To clarify the significance of newly appearing abnormal Q waves and their disappearance in patients with Kawasaki disease, regional myocardial perfusion and glucose metabolism at rest in the fasting condition were assessed by positron emission tomography (PET) with 13N-ammonia and 18F-fluorodeoxyglucose (FDG), and regional wall motion by left ventriculography in regions with persistent and transient abnormal Q waves in 14 patients. PET identified 3 groups of abnormal myocardial segments: segments with hypoperfusion without increased FDG uptake, those with hypoperfusion and increased FDG uptake, and those with normal perfusion and increased FDG uptake. Almost all the segments with persistent or transient abnormal Q waves had abnormal PET findings. PET demonstrated evidence of metabolic activity in 57% of segments with persistent abnormal Q waves and 67% of those with transient abnormal Q waves. Regional wall motion, scored from 0 (normal) to 4 (dyskinesia), was not significantly different between segments with persistent and transient abnormal Q waves (2.3 +/- 1.3 vs 2.2 +/- 1.2). The persistence of abnormal Q waves on serial electrocardiograms was significantly shorter in metabolically active than in inactive segments (19 +/- 17 vs 92 +/- 27 months). In conclusion, in patients with Kawasaki disease, the new appearance of abnormal Q waves is a reliable clue to the presence of ischemic myocardial injury and a high proportion of them are associated with metabolically active myocardial regions. The disappearance of abnormal Q waves does not necessarily mean the normalization of regional myocardial perfusion, metabolism or function, and their early disappearance may imply "viability" in the associated myocardial region.

Adolescent↗
PubMed1994

Abnormalities of contractile structures in viable myocytes of the failing heart.

We examined the incidence and severity of abnormalities of contractile structures of residual viable cardiomyocytes in the left ventricular free wall, septum and right ventricular free wall of 10 dogs with chronic heart failure produced by multiple intracoronary microembolizations and in septal biopsies of 13 patients with chronic heart failure. The abnormalities were evaluated by transmission electron microscopy and classified as either (i) type-1, defined as complete interruption of myofibrils; (ii) type-2, defined as disconnection of end-sarcomeres from the intercalated disc; or (iii) type-3, sarcomere abnormalities defined as Z-bands irregularities and/or focal myofilament disarray. In the left ventricular free wall of dogs, type-1 abnormalities were present in 33 +/- 8% of myocytes, type-2 in 26 +/- 8%, and type-3 in 63 +/- 9%. The incidence of a type-3 abnormality but not type-1 or type-2 was greater in the left ventricular wall compared with the septum and right ventricular wall (P < 0.05). Among abnormal myocytes, 29 +/- 3% of myofibrils were interrupted, 18 +/- 4% of end-sarcomeres were disconnected from the intercalated disc and 12 +/- 2% of sarcomeres were abnormal. The severity of a type-1 but not type-2 or type-3 abnormalities was greater in the left ventricular wall compared with the septum and right ventricular wall. A similarly high incidence of abnormalities was observed in septal myocytes of patients. The results indicate that abnormalities of contractile structures are common among viable myocytes of the failing heart. The incidence of these abnormalities is sufficiently high to warrant serious consideration of their potential role in the progression of left ventricular dysfunction that characterizes the heart failure state.

Actin Cytoskeleton↗
PubMed1996

Both motor and sensory abnormalities contribute to changes in foot posture in an experimental rat neuropathic model.

This study was undertaken to find out whether pain contributes to abnormal posture of the foot in rats displaying neuropathic pain behaviors, and if so, whether there is a specific abnormality which reflects the level of pain. We used a rat model of neuropathic pain which is produced by tightly ligating the L5 and L6 spinal nerves just distal to the dorsal root ganglion (DRG). The operation produced neuropathic pain behaviors along with abnormal foot posture as has been shown previously. On the other hand, injury to the same somatic sensory and motor fibers at a more proximal site by sectioning dorsal and ventral roots of the same segments did not produce neuropathic pain behaviors. Rats with dorsal and ventral rhizotomies showed an abnormality of foot posture despite the absence of neuropathic pain behaviors. However, the abnormality in these rats was less severe and lasted for a shorter period of time as compared to rats with spinal nerve ligation. This suggests that peripheral nerve injury in our rat neuropathic pain model produces a foot postural abnormality partially due to motor deficit. However, there is an additional component of the abnormality that is related to sensory function, possibly pain. Close examination of the data indicate that there is no single obvious abnormal foot posture which exclusively represents motor deficit or sensory abnormality. Rather, neuropathic rats are likely to display abnormal foot posture as a result of a complex mixture of motor and sensory abnormalities.

Animals↗
PubMed2001

Clinical significance of abnormal T waves in patients with non-ST-segment elevation acute coronary syndromes.

T-wave abnormalities are common electrocardiographic occurrences in patients with non-ST-segment elevation acute coronary syndromes. Although these abnormalities are considered relatively benign, physicians use them to guide therapies. The study objective was to examine the prognostic predictive information of T-wave abnormalities in the setting of unstable coronary artery disease. The T-wave abnormality criterion was based on a new set of normal T-wave amplitude limits differentiated by gender, age, electrocardiographic lead, and QRS axis. Four hundred sixty-eight patients suspected of an acute ischemic incident and considered ineligible for reperfusion therapy were included. Thirteen categories of T-wave abnormalities were tested prospectively. The primary 30-day end point was the combination of refractory angina, myocardial infarction, or death. Quantitative T-wave analysis in an electrocardiographic core laboratory revealed 6 of 13 prespecified categories of T-wave abnormalities that were significantly associated with an adverse outcome. T-wave abnormalities had no prognostic value when ST-segment depression was also present, but this occurred in only 7.9% of patients. T-wave abnormalities as the sole manifestation of ischemia were common (74.4%). Patients with abnormal T waves in > or =1 of 6 selected abnormality categories (70.3%) had a significantly higher risk of death, acute myocardial infarction, and refractory angina (11% vs 3%; p = 0.018). Thus, T-wave abnormalities in patients presenting with non-ST-segment elevation acute coronary syndromes are common and should not automatically be regarded as benign phenomena. Quantitative T- wave analysis provides optimal risk stratification.

Aged↗
PubMed1990

Abnormal regional distribution of ventilation in middle-aged smokers: comparison of changes in 81Krm ventilation scans and computed tomography of the lung.

In 1980 we found that abnormalities in regional distribution of ventilation, as assessed by 81Krm lung scans, were common in middle-aged smokers with normal chest radiographs and mild impairment of overall lung function. In 1984 we repeated 81Krm scans in 16 continuing smokers then aged 50-64 years and with mean forced expiratory volume in one second 93% (20 SD) of predicted values who had previous 81Krm scans performed in 1980. To assess the role of disease of the peripheral airspaces in causing abnormal regional ventilation, we also obtained computed tomograms (CT) of the lungs and measured carbon monoxide transfer of the lungs in these men. Krypton scans in seven men who had normal or minor focal defects of ventilation in 1980 were unchanged in 1984. Scans in seven of the nine men who had abnormal scans in 1980 remained abnormal in 1984 but there was no overall deterioration in the abnormality of ventilation in these men; in men with similar grading in 1980 and 1984 some of the peripheral defects present in 1980 had resolved and some new abnormal areas had appeared. Minor localised abnormalities of CT scans, as assessed visually, were present in eight of the 16 men and were associated with lower values of carbon monoxide transfer coefficient (mean 78% vs 98% predicted in men with normal scans, P less than 0.01) and lung density (mean -894 vs -869 HU in men with normal scans, P less than 0.054) suggesting the CT changes were due to alveolar destruction. Abnormality of the krypton scan was not significantly associated with abnormality of the CT scan or with a reduction in carbon monoxide transfer. The results of the krypton lung scans confirm that non-uniformity of regional ventilation is often present in asymptomatic middle-aged smokers and suggest that this non-uniformity is in part due to temporary occlusion of airways. Abnormality in regional ventilation was not associated with the anatomical changes shown by the CT scan, suggesting that airway narrowing was more important than alveolar destruction in causing regional abnormalities of ventilation in these men.

Forced Expiratory Volume↗
PubMed1999

Frequency of abnormal pancreatic and biliary sphincter manometry compared with clinical suspicion of sphincter of Oddi dysfunction.

BACKGROUND: Sphincter of Oddi manometry as performed at ERCP is the most accepted method to evaluate for sphincter of Oddi dysfunction. To fully assess for sphincter of Oddi dysfunction, both the pancreatic and the bile ducts must be evaluated. We assessed the frequency of pancreatic and biliary sphincter abnormalities in a large series of patients. METHODS: A total of 593 patients underwent manometry of the biliary and pancreatic ducts at one endoscopic retrograde cholangiopancreatography session. Basal sphincter pressure greater than or equal to 40 mm Hg was considered abnormal. Phasic waves were not evaluated. Manometric abnormalities were correlated with the clinical presentation as categorized using a modified Geenen/Hogan classification. RESULTS: Of 360 patients with intact sphincters, 18.9% had abnormal pancreatic sphincter basal pressure alone, 11.4% had abnormal biliary basal sphincter pressure alone, and in 31.4% the basal pressure was abnormal for both sphincters; thus, 60.1% of the patients had sphincter dysfunction. The frequency of sphincter of Oddi dysfunction did not differ whether typed by biliary or pancreatic criteria: approximately 65% type II and 59% type III. Of patients without pancreatitis, 55.9% had an abnormal basal sphincter pressure, whereas sphincter dysfunction was present in 72.3% of those with idiopathic pancreatitis and 53.9% of patients with chronic pancreatitis. Of patients with an ablated biliary sphincter, 45.9% had abnormal basal pancreatic sphincter pressure and only 0.6% had an abnormal biliary sphincter pressure alone. Abnormal pressure in both sphincters was found in 9.3%. CONCLUSION: If both portions of the sphincter of Oddi are studied simultaneously, abnormalities are found very commonly (55% to 72%). Assessment of both sides of the sphincter is necessary. Classifying patients according to both pancreatic and biliary sphincter segments is cumbersome, and may be replaced by an overall type. Using this modified classification, the frequency of sphincter of Oddi dysfunction is similar in both type II and type III patients (59% to 67%).

Acute Disease↗
PubMed1997

Follow-up of abnormal Papanicolaou smears in a hospital-based adolescent clinic.

STUDY OBJECTIVE: To present data on the spectrum of abnormal Papanicolaou (PAP) smears in adolescents and to determine factors that influence compliance with recommendations to return for repeat PAP smears or for colposcopic examination. DESIGN: Retrospective chart review with follow-up telephone calls to patients who did not follow recommendations for colposcopy. SETTING: Adolescents receiving health care in a hospital-based adolescent clinic. PARTICIPANTS: Patients with abnormal PAP smears between July 1, 1994 and June 30, 1995. MAIN OUTCOME MEASURES: Compliance with follow-up for abnormal PAP smears including referral to the colposcopy clinic, and the results of repeat PAP smears and colposcopy. RESULTS: Of 888 adolescents undergoing PAP smear evaluation 119 (13.4%) had an abnormal PAP smear during the study year (index PAP). The results of the index PAP were 97 (81.5%) atypia and 22 (18.5%) squamous intraepithelial lesion low grade (SIL LG). The index PAP was the first abnormal PAP smear for 92 of the patients (77%); 27 had one or more previous abnormal PAP smears (18 atypia, 7 SIL LG, 2 SIL high grade [HG]), and 13 had been referred for colposcopy in the past. For 76 of 92 patients with atypia on index PAP (84%), the index PAP was the first abnormal PAP smear. Of these 76 patients, 51 had a second PAP smear: 27 (53%) were normal, 13 (25%) atypia, and 11 (22%) SIL LG. Sixty patients were referred to the colposcopy clinic, but only 37 actually kept the colposcopy appointment despite outreach. The only significant factor for obtaining colposcopy was a visit to the Adolescent Clinic after notification of the abnormal PAP smear result and before the colposcopy appointment; 79% of those who had a visit obtained colposcopy compared with 45% of those who did not have such a visit (p = 0.007). There were no significant differences by race, insurance status, age, PAP smear result, previous referral for colposcopy, or number of reminders with compliance with recommendations for repeat PAP smears or colposcopy. CONCLUSIONS: Although a sizable proportion of adolescents with abnormal PAP smears have significant pathology on repeat PAP smears, adolescents with abnormal PAP smears have a high failure rate in keeping appointments for follow-up PAP smears and colposcopy. Interventions that target all adolescents with abnormal PAP smears need to be designed and tested to aid follow-up.

Adolescent↗
PubMed2006

Chromosome abnormalities and their relationship to morphology and development of human embryos.

This review covers the relationship between chromosome abnormalities, morphological abnormalities and embryonic development. The baseline of chromosome abnormalities in human embryos produced by assisted reproduction is higher than 50%, regardless of maternal age. While aneuploidy increases with maternal age, abnormalities arising post-meiotically, such as mosaicism, chaoticism, polyploidy and haploidy, have similar incidence in all age groups (about 33%). Post-meiotic abnormalities do increase with dysmorphism. The most common dysmorphisms found in cleavage-stage embryos are multinucleation, fragmentation and uneven cells, among others. All dysmorphisms are associated with an increase in post-meiotic chromosome abnormalities and a decreased implantation potential. Similarly, embryos developing slowly or with arrested development have higher incidence of post-meiotic abnormalities than normally developing ones. Chromosome studies in blastocysts indicate that mosaicism is the most common abnormality but that the load of abnormal cells decreases with increasing blastocyst quality. Regardless of blastocyst quality, more than 40% of mosaics are still chromosomally abnormal and will not implant or will spontaneously abort. Because aneuploidy is not related to cleavage stage dysmorphism and trisomies can reach blastocyst stage and beyond, morphological analysis is not enough to select against chromosome abnormalities, and thus preimplantation genetic diagnosis should be recommended in patients 35 and older.

Adult↗
PubMed2003

Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma.

The nonrandom recurrent nature of chromosome abnormalities in myeloma suggests a role for them in disease pathogenesis. We performed a careful cytogenetic analysis of patients with abnormal karyotypes (n = 254), to discern patterns of association, search for novel abnormalities and elucidate clinical implications. Patients with karyotypic abnormalities suggestive of myelodysplasia/acute leukemia were excluded. In this study we compared survival by abnormality only between patients with abnormal karyotypes. Patients with abnormalities were more likely to have features of aggressive disease as compared to all other patients without abnormalities entered into the myeloma database (lower hemoglobin, higher beta(2)-microglobulin, labeling-index and plasmocytosis; all P < 0.0001). Several groups of patients could be readily identified; hypodiploid (22%), pseudodiploid (36%), hyperdiploid (31%) and near-tetraploid (11%). Clustering associations were seen among several trisomies and monosomy of chromosome 13 and 14. Several monosomies (-2, -3, -13, -14 and -19), 1p translocations/ deletions, and hypodiploidy were associated with a significantly shorter survival. Trisomy of chromosome 13 was rare ( <2%). Even among patients with abnormal karyotypes, specific chromosome abnormalities can impart biologic variability in myeloma, including several monosomies, hypodiploidy and abnormalities of 1p.

Adolescent↗
PubMed1993

Cortical laminar abnormalities--occurrence and clinical significance.

Cortical laminar necrosis is a histopathological entity, related to conditions of cerebral energy depletion. Clinical correlates are supposed to be spastic motor deficits, decreased intellectual capacity and epilepsy. A study was performed in 45 children with cortical laminar abnormalities in signal intensity on MRI. The purpose of the study was to evaluate causes and clinical consequences of these cortical abnormalities on MRI in order to find indirect evidence for the hypothesis that they may represent cortical laminar necrosis. In view of the frequently present concomitant white matter damage, two contrast groups were formed: one group of 40 children with periventricular white matter abnormalities, part of them with subcortical extensions of the white matter damage; and another group of 53 children without abnormalities on MRI. Data concerning history, present clinical condition and final diagnosis were collected. The presence of cortical laminar abnormalities on MRI was found to be strongly associated with a history of cerebral energy depletion, especially hypoxia-ischemia, either in the perinatal period or later in life. Whereas white matter abnormalities tended to be more frequent in premature children, cortical laminar abnormalities tended to occur more frequently in term neonates and older children. The presence of cortical laminar abnormalities on MRI was correlated with an increased risk of spasticity in children without concomitant white matter abnormalities. In children with white matter lesions, cortical laminar abnormalities did not contribute to the risk of spasticity, which was already highly increased by the presence of white matter damage. No association was found between cortical abnormalities on MRI and epilepsy or psychomotor retardation.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain Diseases↗
PubMed2003

Defining the nature of the cerebral abnormalities in the premature infant: a qualitative magnetic resonance imaging study.

OBJECTIVES: The aim of this study was to define qualitatively the nature and extent of white and gray matter abnormalities in a longitudinal population-based study of infants with very low birth weight. Perinatal factors were then related to the presence and severity of magnetic resonance imaging (MRI) abnormalities. METHODS: From November 1998 to December 2000, 100 consecutive premature infants admitted to the neonatal intensive care unit at Christchurch Women's Hospital were recruited (98% eligible) after informed parental consent to undergo an MRI scan at term equivalent. The scans were analyzed by a single neuroradiologist experienced in pediatric MRI, with a second independent scoring of the MRI using a combination of criteria for white matter (cysts, signal abnormality, loss of volume, ventriculomegaly, corpus callosal thinning, myelination) and gray matter (gray matter signal abnormality, gyration, subarachnoid space). Results were analyzed against individual item scores as well as the presence of moderate-severe white matter score, total gray matter score, and total brain score. RESULTS: The mean gestational age was 27.9+/-2.4 weeks (range, 23-32 weeks), and mean birth weight was 1063+/-292 g. The greatest univariate predictors for moderate-severe white matter abnormality were lower gestational age (odds ratio [OR], 1.3; 95% confidence interval [CI], 1.1-1.7; P<.01), maternal fever (OR, 2.2; 95% CI, 1.1-4.6; P<.04), proven sepsis in the infant at delivery (OR, 1.8; 95% CI, 1.1-3.6; P=0.03), inotropic support (OR, 2.7; 95% CI, 1.5-4.5; P<.001), patent ductus arteriosus (OR, 2.2; 95% CI, 1.2-3.8; P=.01), grade III/IV intraventricular hemorrhage (P=.015), and the occurrence of a pneumothorax (P=.05). There was a significant protective effect of intrauterine growth restriction (OR, 0.51; 95% CI, 0.23-0.99; P=.04). Gray matter abnormality was highly related to the presence and severity of white matter abnormality. A unique pattern of cerebral abnormality consisting of significant diffuse white matter atrophy, ventriculomegaly, immature gyral development, and enlarged subarachnoid space was found in 10 of 11 infants with birth gestation <26 weeks. Given the later outcome of these infants, this pattern may have very high risk for later global neurodevelopmental disability. CONCLUSIONS: This MRI study confirms a high incidence of cerebral white matter abnormality at term in an unselected population of premature infants, which is predominantly a result of noncystic injury in the extremely immature infant. We confirm that the major perinatal risk factors for white matter abnormality are related to perinatal infection, particularly maternal fever and infant sepsis, and hypotension with inotrope use. We have defined a distinct pattern of diffuse white and gray matter abnormality in the extremely immature infant.

Brain↗