Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ABNORMALITIES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 685 records · Page 38Linked to original sources
PubMed2003

Diffusion tensor brain imaging findings at term-equivalent age may predict neurologic abnormalities in low birth weight preterm infants.

BACKGROUND AND PURPOSE: Low birth weight preterm infants are at high risk of brain injury, particularly injury to the white matter. Diffusion tensor imaging is thought to be more sensitive than conventional MR imaging for detecting subtle white matter abnormalities. The objective of this study was to examine whether diffusion tensor imaging could detect abnormalities that may be associated with later neurologic abnormalities in infants with otherwise normal or minimally abnormal conventional MR imaging findings. METHODS: We prospectively studied 137 low birth weight (<1800 g) preterm infants. Neonatal conventional MR imaging and diffusion tensor imaging were performed near term-equivalent age before discharge, and neurologic development of the infants was later followed up at 18 to 24 months of age. RESULTS: Among the preterm infants who were fully studied, 63 underwent normal conventional MR imaging. Three of these infants developed cerebral palsy, and 10 others showed abnormal neurologic outcome. Diffusion tensor imaging results for these infants showed a significant reduction of fractional anisotropy in the posterior limb of the internal capsule in neurologically abnormal infants (including those with cerebral palsy) compared with control preterm infants with normal neurologic outcomes. CONCLUSION: These results suggest that neonatal diffusion tensor imaging may allow earlier detection of specific anatomic findings of microstructural abnormalities in infants at risk for neurologic abnormalities and disability. The combination of conventional MR imaging and diffusion tensor imaging may increase the predictive value of neonatal MR imaging for later neurologic outcome abnormalities and may become the basis for future interventional clinical studies to improve outcomes.

Anisotropy↗
PubMedDate not supplied

Circadian variation of abnormal heart beats in an elderly population and their relation to sudden cardiac death.

The relationships between the circadian variation of abnormal heart beats and the circadian variation in sudden cardiac death warrant further discussion for the high correlations demonstrated here are difficult to ignore. In the healthy group abnormal beats showed a high correlation of their circadian variation with that of sudden cardiac death which is independent of heart rate. As a result the conclusion that the relationship of the circadian variations of abnormal heart beats and sudden cardiac death is merely dependent on a mutual dependence on activity is not supported here. The present data illustrates a strong association between arrhythmias and sudden cardiac death. The relationship of sudden cardiac death with abnormal heart beats demonstrated here, however, cannot confirm a causal role of the latter on the former for both may be responding to circadian variations of some underlying mechanism such as ischemia. Additionally the population studied here, although relatively comparable in terms of living conditions and other significant factors, was not strictly age-matched with those from the sudden cardiac death study warranting further caution in interpreting the association demonstrated here. The results from the unhealthy group, although somewhat limited, indicate that cardiovascular morbidity may alter the relationship of sudden cardiac death and abnormal heart beats. Such a result could be explained by the presence of other forms of heart disease which could be responsible for sudden cardiac death in the unhealthy group. An interesting question to ask concerning the data presented above is whether or not significant circadian variations in in the frequency of abnormal heart beats could have been demonstrated when exogenous factors such as meal times and activity were altered. The data on in hospital sudden cardiac death indicates that the circadian variation in sudden cardiac death is significantly altered by the radical changes in routine which accompany hospitalization. If the relationship between the circadian variation of sudden cardiac death and abnormal heart beats is as strong as the results presented here indicate, it is likely that the alteration of such exogenous factors would also change the circadian variation of abnormal heart beats. The results of the present study indicate that both the circadian variation in abnormal heart beats, and its relationship to sudden cardiac death, warrant further study.

Aged↗
PubMed2005

[Different patterns of abnormalities in exercise 201TI myocardial scintigraphy and their mechanisms].

OBJECTIVE: To categorize the patterns of abnormalities in exercise (201)TI myocardial scintigraphy and explore the mechanisms. METHODS: Exercise (201)TI myocardial scintigraphy was performed in 203 patients with clinically suspected coronary artery disease, including 74 normotensive patients, 78 hypertensive patients without left ventricle hypertrophy (LVH) and 51 hypertensive patients with LVH. All the patients underwent coronary angiography one month before or after (201)TI myocardial scintigraphy, and the patterns of abnormal findings were categorized as segmental, non-segmental and mixed patterns. Patients with abnormal (201)TI myocardial perfusion and normal coronary angiographic findings were followed up. RESULTS: In hypertensive patients without and with LVH, the ratios of abnormal perfusion in segmental, non-segmental and mixed types were 52/60 and 32/58, 4/60 and 9/58, and 4/60 and 17/58, respectively. The ratios of normal coronary angiography in the 3 types were 17/84, 13/13 and 10/21, respectively. Among the 40 patients followed up, 5 with segmental abnormality and 2 with mixed abnormalities developed large coronary artery disease, which was found in none of the patients with segmental abnormality. CONCLUSIONS: In hypertensive patients with and without LVH, segmental perfusion abnormalities may be attributed to the anatomic and functional stenosis of the large coronary arteries, and the non-segmental abnormal perfusion might be only possible with coronary microvascular diseases.

Coronary Disease↗
PubMed2006

The costs of an outreach intervention for low-income women with abnormal Pap smears.

INTRODUCTION: Follow-up among women who have had an abnormal Papanicolaou (Pap) smear is often poor in public hospitals that serve women at increased risk for cervical cancer. This randomized controlled trial evaluated and compared the total cost and cost per follow-up of a tailored outreach intervention plus usual care with the total cost and cost per follow-up of usual care alone. METHODS: Women with an abnormal Pap smear (n = 348) receiving care at Alameda County Medical Center (Alameda County, California) were randomized to intervention or usual care. The intervention used trained community health advisors to complement the clinic's protocol for usual care. We assessed the costs of the intervention and the cost per follow-up within 6 months of the abnormal Pap smear test result. RESULTS: The intervention increased the rate of 6-month follow-up by 29 percentage points, and the incremental cost per follow-up was 959 dollars (2005 dollars). The cost per follow-up varied by the severity of the abnormality. The cost per follow-up for the most severe abnormality (high-grade squamous intraepithelial lesion) was 681 dollars, while the cost per follow-up for less severe abnormalities was higher. CONCLUSION: In a health care system in which many women fail to get follow-up care for an abnormal Pap smear, outreach workers were more effective than usual care (mail or telephone reminders) at increasing follow-up rates. The results suggest that outreach workers should manage their effort based on the degree of abnormality; most effort should be placed on women with the most severe abnormality (high-grade squamous intraepithelial lesion).

California↗
PubMed1990

Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

A 13-year incidence study of sex chromosome abnormalities in Arhus, Denmark of 34,910 newborn children showed that 1 per 448 had a sex chromosome abnormality. The incidences of the most common sex chromosome abnormalities were Klinefelter syndrome, 1 per 576 boys; XYY, 1 per 851 boys; triple X, 1 per 897 girls; Turner syndrome, 1 per 2130 girls. Follow-up of children with autosomal abnormalities is not included in this study. None of the 78 surviving children with sex chromosome abnormalities was mentally retarded. All children above school age attended regular schools. Seventy-seven percent of Klinefelter, triple X, and XYY children aged 15-19 had received remedial teaching, 29% were receiving remedial teaching at the last follow-up, 32% had been in special classes at a regular school due to learning problems, and 24% were still in such classes at the last time of follow-up. There was no increased frequency of criminal activity or behavior disorders, nor was there any increased frequency of mental or physical disorders. The distribution of planned training or occupation for the 25 youths with sex chromosome abnormalities between 15 and 19 years of age was similar to that of their sibs. Testosterone undecanoate treatment has been given to Klinefelter boys from puberty and growth hormone treatment to Turner girls from the age of 7, and very small doses of estrogen were given to these girls from around the age of 12 when FSH was increasing to postmenopausal levels. Prevention or reduction of deviations in mental development from the normal range in children with sex chromosome abnormalities is possible if educational and social resources are available and the parents are well informed and counseled regularly. Information in Denmark has been given in part by publishing four booklets about triple X, XYY, Turner, and Klinefelter syndrome. Information, support, and stimulation to self-help have, to a certain extent, been given through contact groups. Parents having a child with a sex chromosome abnormality need information, counseling, and assistance. The type and magnitude of this assistance depend on the individual child, the specific sex chromosome abnormality, and the parents' own resources, psychologically, socially, and otherwise.

Aneuploidy↗
PubMed1989

Regional cerebral glucose utilization reveals widespread abnormalities in the motor system of the rat mutant dystonic.

Rats with an inherited movement disorder (dystonic, dt), their phenotypically normal littermates, and normal unrelated controls were studied using a metabolic mapping technique, 2-deoxyglucose autoradiography. This approach was used to identify potential sites of abnormality underlying the movement disorder, as no morphological abnormalities using light and electron microscopic techniques have been identified in this mutation. There was a significant overall glucose utilization (GU) reduction in the dt rats and their littermate controls when they were at rest and not displaying abnormal movements. Conversion of GU values to standard scores showed abnormalities in dt compared with both control groups in the following areas: deep cerebellar nuclei, locus coeruleus, pontine gray, ventrolateral-ventromedial thalamic complex, nucleus of the third nerve, lateral habenula, and basolateral amygdala. Littermates were different from nonlittermates in several regions, including the dentate and red nuclei. A study of relative GU performed in animals displaying dystonic movements also showed abnormalities in the deep cerebellar nuclei and locus coeruleus, and in the red nucleus, external cuneate, and medial septum. Correlations computed for GU in pairs of regions with known anatomical connections suggested that cerebellar, substantia nigra, and basal ganglia efferents may be abnormal. These studies complement existing biochemical and neuropharmacological data which show abnormalities in the cerebellum of the dt rat. Additionally, the function of brain stem and even basal ganglia nuclei is affected in this mutant, perhaps as a consequence of abnormal cerebellar activity. The partial effects in the littermates suggest that abnormalities in only a few regions are not sufficient to produce the movement disorder, and a gene dose effect may exist.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1985

Preleukemic state of adult T cell leukemia: abnormal T lymphocytosis induced by human adult T cell leukemia-lymphoma virus.

We report the clinical, hematologic, and immunologic features of 18 preleukemic adult T cell leukemia (pre-ATL) cases with abnormal T lymphocytosis induced by human adult T cell leukemia-lymphoma virus (HTLV/ATLV). The patients were from the Nagasaki district, which is one of the most endemic areas of ATL in Japan. Pre-ATL is a subclinical T cell abnormality differing from ATL. It is characterized by an insidious onset and appearance of abnormal T lymphocytes (10% to 40%) in the peripheral blood without clinical symptoms except for a few cases transiently presenting fever, skin eruptions, and slight lymphadenopathies. Most abnormal T lymphocytes were small and mature with incised or lobulated nuclei and formed E rosettes with sheep RBCs. Virologic and biomolecular analysis revealed that all cases were infected with HTLV, and proviral DNA was integrated in host lymphocytes from 12 of the 14 cases examined. Furthermore, the lymphocyte populations, including abnormal T lymphocytes, were monoclonal with respect to the site of the provirus integration. Abnormal T lymphocytosis persisted from one to more than seven years in six cases, three of which developed ATL after a one- to five-year pre-ATL stage, whereas abnormal T lymphocytes spontaneously decreased in the other seven patients. However, HTLV-infected monoclonal lymphocytes were detected in four cases examined, even after most of the abnormal T lymphocytes had disappeared. Moreover, the same clonally provirus-integrated lymphocytes persisted in two of four cases not only during the course of abnormal lymphocytosis, but also in the subsequent almost-normal blood. These results indicate that the majority of the cases were in a pre-ATL state with a potential to develop ATL.

Adult↗
PubMed1985

Abnormal stem cells in autoimmune-prone mice are responsible for premature thymic involution.

Autoimmune-prone mice show premature thymic involution, including morphological and functional abnormalities. To determine why the thymic abnormalities develop in autoimmune-prone mice, transplantation of the thymus and/or bone marrow was performed. When thymuses of newborn MRL/1 (H-2k) mice were grafted into C3H/HeN nu/nu(H-2k) mice, the engrafted thymuses did not show the abnormalities which characterize the thymus in the autoimmune-prone MRL/1 mice. By contrast, when thymuses of newborn C3H/HeN or MRL/n mice were grafted into MRL/1 mice, the engrafted thymuses developed after an interval of 3 months the same morphological abnormalities as were seen in MRL/1 mice. Thus, we can conclude that premature involution of the thymus in autoimmune-prone mice may not be a genetically determined abnormality intrinsic to the thymus, but rather an abnormality secondary to other events occurring in these mice. When bone marrow of young C3H/HeN nu/nu mice was transplanted into irradiated (850 rad) MRL/1 mice, neither thymic abnormalities nor autoimmune diseases developed. Therefore, it seem likely that abnormal stem cells in autoimmune-prone mice induce thymic abnormalities, and these, in turn, are associated with the development of autoimmune diseases.

Animals↗
PubMedDate not supplied

Lumbar puncture for evaluation of latent syphilis in hospitalized patients. High prevalence of cerebrospinal fluid abnormalities unrelated to syphilis.

OBJECTIVE: To determine the prevalence of abnormal neurologic findings and cerebrospinal fluid abnormalities in hospitalized patients with serologic evidence of latent syphilis. DESIGN: Cross-sectional survey. METHODS: Consecutively admitted hospital inpatients from an inner-city population were screened for serologic evidence of syphilis with reactive plasma reagin and confirmatory fluorescent treponemal antibody absorption assays. In those with reactive tests, such clinical findings as a history of treatment for syphilis, neurologic abnormalities, presence of human immunodeficiency virus infection, and rapid plasma reagin titer were correlated with cerebrospinal fluid white blood cell count, protein level, and VDRL result. RESULTS: Of 490 consecutive patients, 52 (11%) had serologic evidence of syphilis. Forty-three (83%) of these underwent lumbar puncture. Of the 43, 31 (72%) were seronegative for human immunodeficiency virus and 12 (28%) were seropositive. No patient had a reactive cerebrospinal fluid VDRL test. Cerebrospinal fluid abnormalities were seen in 32% of human immunodeficiency virus-seronegative patients and in 67% of human immunodeficiency virus-seropositive patients. Cerebrospinal fluid abnormalities were not predicted by history of treatment for syphilis, abnormal neurologic findings, or an elevated rapid plasma reagin titer. Cerebrospinal fluid IgG indexes in patients with elevated cerebrospinal fluid protein levels suggested that the protein abnormalities were not caused by local antibody production. Nonreactive cerebrospinal fluid fluorescent treponemal antibody absorption tests suggest that the cerebrospinal fluid abnormalities were not the result of neurosyphilis. CONCLUSIONS: There was a high prevalence of cerebrospinal fluid abnormalities in hospitalized patients with latent syphilis detected by routine screening. Because of the nonspecificity of the cerebrospinal fluid findings, routine lumbar puncture for such patients appears to contribute little to the treatment of latent syphilis.

Adolescent↗
PubMed1993

[Studies on background of gamma-GTP abnormality in human multiphasic screening. (Part 1): Effect of obesity and ingestion of alcohol on gamma-GTP level in serum].

The present study deals mainly with the relationship between abnormal gamma-GTP level in serum on the one hand and obesity and ingestion of alcohol on the other hand on the basis of data for 1,493 cases (1,256 male cases, 237 female cases) who visited our clinic for their health check in the short-term human dry dock managed by the Fukuoka University Hospital. Abnormality in gamma-GTP serum level (> 60 mu/ml) was noted in 28.9% of men, which was second highest after 33.5% for the rate of triglyceride abnormality among the laboratory examinations performed in the human dry dock. In women the rate of abnormal LAP level in serum was the highest at 22.0%, while the rate of abnormal level of gamma-GTP was not more than 3%. The rate of abnormal gamma-GTP in serum increased with elevation in the obesity rate. Particularly in men there was a close relationship between the rate of abnormal gamma-GTP in serum and the amount of alcohol ingested, and the rate of abnormal gamma-GTP was 30.8% in men who take between 1 and 2 "gou" of Sake (1 "gou" of Sake contains 30g of alcohol) a day but reached 71.6% in case of the alcohol ingestion exceeding 2 "gou" of Sake. The relative risk ratio for abnormal gamma-GTP in serum was greater for alcohol than for obesity with 6.80 for those who are not obese but drink alcohol and 2.23 for those who are obese but do not drink alcohol. In both men and women, obesity plus ingestion of alcohol brought about a synergistic rather than additional effect. In men the relative risk ratio in the group having both obesity and ingestion of alcohol amounted to 11.5.

Adult↗
PubMed1996

Ductography is a useful technique in evaluation of abnormal nipple discharge.

The purpose of this study was to evaluate the utility of ductography, or galactography, in identifying ductal abnormalities in patients presenting with abnormal nipple discharge and to correlate these findings with pathologic results. Abnormal nipple discharge was defined as either bloody or testing positive for occult blood. Milky discharge (galactorrhea) was not evaluated. From July 1992 to June 1994, a total of 43 women presented to the UCLA Breast Center with complaints of abnormal nipple discharge. Mean age of the patients was 54.9 years. All patients underwent technically adequate ductography. A total of 25 patients then underwent 26 excisional biopsies for abnormal ductographic findings. Surgery was usually simplified by the appropriate ductal injection of methylene blue immediately preoperatively. No complications from the procedure were identified. Pathologic entities were correlated with ductographic findings. Ductography identified ductal abnormalities in 33/45 (73%) of ductograms. Filling defects were noted in 19/45 (42%) of ductograms, ductal dilatation in 3/45 (7%), both filling defects and dilatation were noted in 11/45 (24%) of ductograms, and 12/45 (27%) were normal ductograms. Pathologically, ductographic anomalies correlated well with histologic findings. We conclude that ductography is an effective and safe means of identifying ductal abnormalities in patients with abnormal breast discharge. A high incidence of benign intraductal papilloma and a moderate risk of cancer and precancerous lesions were identified. We believe that patients with abnormal nipple discharge should undergo routine ductography and dye localization before surgery.

Breast Diseases↗
PubMedDate not supplied

Cytogenetic abnormalities in patients with severe aplastic anemia.

BACKGROUND: Cytogenetic abnormalities have been described in a few patients with otherwise typical severe aplastic anemia (SAA), and the possible clonal nature of this disease is a controversial issue. MATERIALS AND METHODS: Sixty-nine patients with acquired severe aplastic anemia underwent cytogenetic examination on bone marrow cells at the time of diagnosis (n = 34) and/or at least twice after immunosuppressive therapy (IS) (n = 35). RESULTS: We identified 2 major groups. Group A: 51 patients (74%) were normal and remained normal. Group B: 18 patients (26%) had at least one abnormal cytogenetic analysis. This second group could be further subdivided as follows: (B1) chromosomal abnormalities not present at first examination and acquired in the course of the disease (n = 7); (B2) clonal cytogenetic abnormalities present at first examination and persisting (n = 3); (B3) reversible cytogenetic abnormalities (n = 8). The most frequent abnormality was trisomy 8 (n = 8) followed by monosomy 7 (n = 2); 82% of patients are alive in group A and 61% in group B. Three patients developed acute leukemia, all from group B. This represents 4% of all patients or 17% of those with at least one abnormal cytogenetic test. CONCLUSIONS: Thus the majority of SAA patients have normal karyotypes in marrow cells at presentation and at follow-up. Patients with abnormal karyotypes exist and can be further subdivided into those with reversible and those with persistent abnormalities. The latter are at risk of developing myelodysplasia or acute leukemia.

Adolescent↗
PubMed1997

[Abnormally distributed regional cerebral blood flow in brain malformations detected by single photon emission computed tomography].

Brain malformations are rare congenital anomalies caused by neuronal migration disorders or cerebral tissue destruction during gestation. And epileptic disorders and psychomotor retardation are sometimes induced by them. Previous understanding of these anomalies was derived from pathologic studies after autopsy. The recent advancement of neuroimaging techniques, such as magnetic resonance imaging (MRI), has allowed us to achieve a high diagnostic capability of these malformations. These abnormalities have been more widely recognized morphologically. However, cerebral function in these cases has been rarely described. To evaluate the cerebral functional state in these anomalies, 123I-N-isopropyl-p-iodoamphetamine (123I-IMP) single photon emission computed tomography (SPECT) was performed in 3 cases with brain malformations and 22 normal controls. Several regions of interest (ROI) in the cortex were determined, and the radioactivity at each ROI was counted. The regional cerebral blood flow (rCBF) distribution was evaluated semiquantitatively by calculating the cortico-cerebellar ratios at each ROI. A 23-year-old female with schizencephaly (Case-1) and a 21-year-old male (Case-2) with polymicrogyria showed increased rCBF in their abnormal cortices. And a 39-year-old male with porencephaly (Case-3) demonstrated severely decreased rCBF in his abnormal cortex with gliosis which was considered to be a result from a secondarily disturbed neuronal migration after tissue destruction during gestation. Furthermore, abnormal rCBF distribution was observed in their morphologically normal cortices in addition to their abnormal cortices compared to normal controls. Case-2 showed decreased cerebral perfusion in the morphologically normal cortex around his abnormal cortex with increased rCBF, suggesting surrounding suppression associated with epileptic foci. In contrast, the lesions with decreased rCBF in Case-1 were not around the abnormal cortices. In the cortices with decreased rCBF, despite morphologically normal imaging, of Case-3, the decrement was considered to be diaschisis, since these lesions were located in the ipsilateral hemisphere of the tissue defect. We concluded that brain malformations show various rCBF abnormalities, and these are spread over a larger area than detected by MRI. Therefore, SPECT is a valuable examination method for the determination of abnormal areas and the assessment of pathologic functional state in patients with brain malformations.

Adolescent↗
PubMed1997

Differential rates of somatic hypermutation in V(H) genes among subsets of chronic lymphocytic leukemia defined by chromosomal abnormalities.

Chronic lymphocytic leukemia (CLL) is a B-cell tumor involving small lymphocytes that generally express the CD5 antigen and low levels of surface Ig. Within this definition, there is heterogeneity among cases in cell morphology, karyotypic abnormalities, and clinical course. Trisomy 12, the most frequent karyotypic abnormality, is commonly found in a subset of CLL with atypical morphology. It has also been associated with advanced disease, and possibly with a less favorable prognosis. A further subset of cases with abnormalities involving chromosome 13q14 have typical lymphocyte morphology. Occasionally, the two abnormalities are found together. To assess the clonal history of the cell of origin in disease subsets defined by these two chromosomal abnormalities, we investigated the usage of V(H) genes and the pattern of somatic mutation in 10 cases of trisomy 12 with atypical morphology and eight cases of 13q14 abnormality with typical morphology. In addition, four cases with both chromosomal abnormalities were analyzed. Results confirm a common usage of the V(H)1 family in all subsets. However, the patterns of somatic mutation were distinct, with cases of trisomy 12 showing a minimal level of mutation (mean +/- SD, 0.34% +/- 0.86%) and cases of 13q14 abnormality showing significant levels (6.5% +/- 1.67%). The four cases with both abnormalities showed a mixed pattern. All mutated cases had intraclonal homogeneity, and three of 10 had a pattern indicative of antigen selection. These results suggest that the clonal history of the two subsets of CLL may differ.

Aged↗
PubMed1998

Correlation of cytogenetic abnormalities with the outcome of patients with uveal melanoma.

BACKGROUND: Cytogenetic investigations of choroid and ciliary body melanomas have revealed that the majority of cases are characterized by recurrent clonal abnormalities involving chromosomes 3, 6, and 8. The authors sought to determine whether these abnormalities were associated with outcome. METHODS: Fifty-four patients who underwent enucleation for untreated uveal melanoma between 1988 and 1996 were subjected to complete cytogenetic analysis. The most recent follow-up data from the time of enucleation was obtained. Patient outcomes were divided into two groups: 1) alive with metastases or dead of disease, and 2) alive without known metastases or dead of other causes. The relative risk (RR) and 95% confidence interval (CI) of a poor outcome were calculated for each chromosomal abnormality and clinical characteristic. RESULTS: Patients were followed for a median of 38 months. No patients were lost to follow-up. Abnormalities of chromosomes 3 and 8 were associated with a poor prognosis, but only when these two chromosomal abnormalities were present together (RR = 4.1, 95% CI = 1.7-9.9). The presence of a chromosome 6 abnormality was predictive of a good outcome (RR = 0.2, 95% CI = 0.1-0.8), even in the presence of chromosome 3 and 8 abnormalities. The only clinical factor associated with a poor outcome was the presence of extrascleral extension. CONCLUSIONS: In this group of patients with large posterior uveal melanomas, the concurrent presence of cytogenetic abnormalities of chromosomes 3 and 8 was associated with a poor outcome. An abnormality of chromosome 6 appeared to have a protective effect. These data suggest that cytogenetic analysis may provide prognostic information on patients with uveal melanoma and that further investigation of the contributions of these chromosomal aberrations to disease progression is warranted.

Chromosome Aberrations↗
PubMed1999

Abnormal FHIT transcripts found in both lung cancer and normal lung tissue.

Occurrence of abnormal transcripts of the FHIT (fragile histidine triad) gene has been reported in various types of cancer. On the other hand, aberrant transcripts are sometimes found in non-neoplastic tissues, so the relationship between the presence of abnormal transcripts of the FHIT gene and cancer pathogenesis is controversial. We investigated alterations in the FHIT locus, detected by nested reverse transcription-polymerase chain reaction and/or allelic status, in 88 primary lung cancers and normal lung tissues, and 22 normal lung tissues with metastatic lung cancer as a control. The frequencies of abnormal transcripts were 59% in lung cancer, 35% in paired normal lung, and 64% in normal control lung; the difference in frequencies between lung cancer and paired normal lung was significant, while that between lung cancer and normal control lung was not. Sequence analysis revealed that there were no cancer-specific abnormal transcripts entirely missing two or more exons, nor were the abnormal transcripts of lung cancer identical with those of paired normal lung in the same individual. Furthermore, we found no correlation between loss of heterozygosity in the FHIT locus and occurrence of abnormal FHIT transcripts. These results suggest that the presence of abnormal FHIT transcripts, in terms of their frequency and variety, is not cancer-specific in lung carcinogenesis, and the abnormality may be mainly due to abnormal splicing and processing of the transcripts. To estimate the precise function of the FHIT gene, further study of the FHIT protein in lung carcinogenesis is needed.

Acid Anhydride Hydrolases↗
PubMed1998

Surface marker abnormalities in myelodysplastic syndromes.

BACKGROUND AND OBJECTIVE: The myelodysplastic syndromes (MDS) are clonal stem cell disorders associated with a variety of abnormalities of mature and maturing cells, including surface antigen abnormalities. Granulocytes and monocytes function as members of the immune system. Surface antigens serve as biological sensors allowing various cells to interact with different stimuli. Abnormalities of surface antigens may be associated with defective cell function and may indicate a more severe or more advanced stage of the disease. INFORMATION SOURCES: The author has a great interest in bone marrow changes in MDS and has several previous publications in this field. In addition, relevant articles published since 1966 were retrieved using Medline of English literature and were included. STATE OF THE ART AND PERSPECTIVES: Several surface antigens in MDS have shown abnormal expression either in the intensity of fluorescence or the percentage of positive cells. These abnormalities include increased, decreased or lineage-aberrant expression. Abnormalities of several surface markers have prognostic significance. MDS patients with a low percentage of bone marrow cells expressing CD11b had a higher risk of evolution to acute myeloid leukemia and shorter survival compared to patients with more than 53% of marrow cells expressing CD11b (29 weeks versus 160 weeks). On the other hand, an increased percentage of bone marrow cells expressing early or immature markers, such as CD 13, CD33, CD34 and HLA-DR, has been associated with a worse outcome and with progression to a higher risk MDS or to acute myeloid leukemia. However, there are numerous discrepancies and inconsistencies in the literature when reviewing surface marker changes in MDS. These discrepancies may be related, at least in part, to the presence of an intracellular storage compartment of numerous surface antigens in the granulocytes and monocytes. Because of these storage pools, the techniques of preparing more mature granulocytes and monocytes, such as density gradient separation, and the interpretation of results must be carefully evaluated. Furthermore, various methods have been used to express abnormal results including percentage of positive or negative cells, fluorescent intensity (FI) of individual patients or a group of patients using a mean fluorescent channel (256 or 1024 channel mode), and finally the expression of FI as molecules of equivalent soluble fluorochromes or antibody binding capacities. Several mechanisms may be involved in the abnormal expression of surface antigens in MDS including defective granulopoiesis, defective intracellular storage pool, abnormal membrane of cytoplasmic granules, and the effect of high levels of marrow cytokines such as tumor necrosis factor alpha and transforming growth factor-beta. Standardization of the methods of preparing and studying mature and maturing granulocytes and monocytes in MDS has to be achieved in order to produce comparable results, thus allowing surface marker studies to be utilized as diagnostic and prognostic tools in MDS.

Antigens, CD↗
PubMed2006

Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities.

The objective of the study was to investigate the possible association between nausea and vomiting in early pregnancy and congenital abnormalities. The prevalence of medically-recorded severe nausea and vomiting in early pregnancy in cases with congenital abnormalities and their available matched population controls without any defect was compared in the population-based large data set of the Hungarian Case-Control Surveillance System of congenital abnormalities, 1980-1996. Of 22,843 cases with as 25 different congenital abnormality groups, 1,713 (7.5%) cases had mothers with medically recorded and treated severe nausea and vomiting during pregnancy. Of 38,151 matched population controls, 3,777 (9.9%) had mothers with severe nausea and vomiting (adjusted prevalence odds ratio (POR) with 95% CI: 0.74, 0.68-0.79). Five congenital abnormality groups: cleft lip with or without cleft palate (0.50, 0.37-0.70), posterior cleft palate (0.53, 0.32-0.89), renal a/dysgenesis (0.23, 0.06-0.96), obstructive defects of urinary tract (0.32, 0.18-0.58), and cardiovascular malformations (0.68, 0.57-0.81) had mothers with a lower prevalence of severe nausea and vomiting in pregnancy (adjusted PORs with 95% CI included in parentheses). Of 25 congenital abnormality groups, 22 had POR lower than 1. Thus in this study the mothers of cases with congenital abnormalities were 26% less likely to have had severe nausea and vomiting in early pregnancy than the mothers of population controls without congenital abnormalities.

Adult↗