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PubMed1994

Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.

We report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1-specific probes to confirm the karyotype, 46,XY,15+der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG-banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study.

Abnormalities, Multiple↗
PubMed2006

Evaluating the thresholds of abnormal second trimester multiple marker screening tests associated with intra-uterine growth restriction.

Our objective was to evaluate the optimal thresholds for unexplained abnormal multiple marker screening (MMS) results that are associated with intrauterine growth restriction (IUGR). This was a case-control study from our perinatal database. MMS analyte levels (multiples of median [MoM]) of cases with IUGR (birthweight < 5th percentile for gestational age) were compared with a control group without IUGR. Pregnancies with fetal anomalies were excluded. Biochemical markers evaluated include alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3). Using receiver operating characteristic curves, the optimal thresholds of MMS (OTMs) associated with IUGR were determined. We identified 255 (12.3%) cases with IUGR and complete MMS records from the database. These were compared with 1785 controls without IUGR randomly selected from our perinatal database in a 1:7 ratio. The OTMs associated with IUGR were AFP > 2.0 MoM (odds ratio [OR] = 2.3; 95% confidence interval [CI], 1.4 to 3.7), hCG > 2.5 MoM (OR = 1.8; 95% CI, 1.1 to 3.2) and uE3 < 0.9 MoM (OR = 2.7; 95% CI, 2.0 to 3.7). The sensitivity, specificity, and positive and negative predictive values for predicting IUGR in the presence of at least one abnormal MMS were 46, 66, 11, and 90%, respectively. Elevated AFP > 2.0 MoM and hCG > 2.5 MoM were the most specific markers for MMS, with specificity of 94 and 95%, respectively. When all three analytes were abnormal, the specificity for predicting IUGR increased to 99%. Abnormal MMS results are associated with IUGR. As a screening tool for IUGR, the biochemical markers were associated with poor sensitivity. Elevated AFP and hCG, however, were highly specific in predicting IUGR. The provided thresholds could be useful in designing policies regarding women who would benefit most from sonographic screening for IUGR.

Adult↗
PubMed2001

Distinctive patterns of Her-2/neu, c-myc, and cyclin D1 gene amplification by fluorescence in situ hybridization in primary human breast cancers.

BACKGROUND: Human solid tumors undergo clonal evolution as they progress, but evidence for specific sequences of genetic changes that occur in individual tumors and are recapitulated in other tumors is difficult to obtain. METHODS: Patterns of amplification of Her-2/neu, c-myc, and cyclin D1 were determined by fluorescence in situ hybridization (FISH) in relation to the presence of p53 dysfunction and ploidy in 60 primary human breast cancers. RESULTS: We show that there are clusters of genophenotypic abnormalities that distinguish lobular breast cancers from nonlobular tumors; that cyclin D1 amplification occurs prior to the divergence of lobular breast cancers from nonlobular cancers; that p53 dysfunction, Her-2/neu amplification, and c-myc amplification are characteristic features of nonlobular breast cancers, but not of lobular breast cancers; and that the frequencies of amplification of all three oncogenes examined increase progressively with increasing aneuploidy, but that each gene exhibits a different profile of increasing amplification in relation to tumor progression. Early amplification of c-myc appears to be an especially prominent feature of hypertetraploid/hypertetrasomic tumors. CONCLUSIONS: The data suggest that in tumors containing multiple abnormalities, these abnormalities often accumulate in the same cells within each tumor. Furthermore, the same patterns of accumulation of multiple genophenotypic abnormalities are recapitulated in different tumors.

Alleles↗
PubMed1993

Infant death due to congenital abnormalities presenting as a homicide.

A perinatal death presenting as a possible homicide is reported. An infant was born with a cleft palate, but without other apparent abnormality, to a mother who experienced postpartum depression. The infant apparently died during feeding. A death certificate, giving cot death and congenital malformations as the causes of death, was rejected by the registering authority. The possibility of homicide was considered. Exhumation and autopsy showed multiple abnormalities, including congenital heart disease and the karyotype of DiGeorge's anomaly. The case highlights the value of the autopsy in such cases, and emphasizes the role of cytogenetics, even after considerable postmortem delay.

Abnormalities, Multiple↗
PubMed2005

Increasing normal-appearing grey and white matter magnetisation transfer ratio abnormality in early relapsing-remitting multiple sclerosis.

Abnormalities within normal-appearing grey and white matter (NAGM and NAWM) occur early in the clinical course of multiple sclerosis (MS) and can be detected in-vivo using the magnetisation transfer ratio (MTR). To better characterize the rates of change in both tissues and to ascertain when such changes begin, we serially studied a cohort of minimally disabled, early relapsing-remitting MS patients, using NAGM and NAWM MTR histograms. Twenty-three patients with clinically definite early relapsing-remitting MS (mean disease duration at baseline 1.9 years), and 19 healthy controls were studied. A magnetisation transfer imaging sequence was acquired yearly for two years. Twenty-one patients and 10 controls completed followup. NAWM and NAGM MTR histograms were derived and mean MTR calculated. A hierarchical regression analysis, adjusting for brain parenchymal fraction,was used to assess MTR change over time. MS NAWM and NAGM MTR were significantly reduced in comparison with controls at baseline and, in patients, both measures decreased further during follow-up: (-0.10 pu/year, p=0.001 and -0.18 pu/year, p<0.001 respectively). The rate of MTR decrease was significantly greater in NAGM than NAWM (p=0.004). Under the assumption that such changes are linear, backward extrapolation of the observed rates of change suggested that NAWM abnormality began before symptom onset. We conclude that increasing MTR abnormalities in NAWM and NAGM are observed early in the course of relapsing-remitting MS. It is now important to investigate whether these measures are predictive of future disability, and consequently, whether MTR could be used as a surrogate marker in therapeutic trials.

Adult↗
PubMedDate not supplied

Variants of Möbius' syndrome and central neurologic impairment. Lindeman procedure in children.

Möbius' syndrome is a complex neurologic disorder; its etiology and characterization have eluded clinicians for over a century. The pure Möbius' syndrome is rare, and the involvement of the sixth and seventh nerves has been found to have a host of associated defects. These include limb and shoulder abnormalities; multiple cranial nerve defects; occasional mental retardation; external, middle, and inner ear abnormalities; laryngeal neurologic defects that cause stridor, obstruction, and aspiration; and severe dysphagia and associated aspiration with life-threatening pneumonias. The children with severe neurologic dysfunction from central nuclear deficiencies were in many respects so similar in their clinical course that they are included in this paper. All of the patients required a tracheotomy to support the airway and to permit tracheobronchial toilet. A feeding gastrostomy was necessary in all but one patient. To counter life-threatening aspiration in the patients with multiple CNS defects, the Lindeman laryngeal diversion was considered the procedure of choice and proved very effective. The details and problems of this procedure are discussed. The aural defects and laryngeal findings in this series of patients are described in detail.

Abducens Nerve↗
PubMed1985

Excision biopsy of the spleen by ultrasonic guidance.

Excision biopsy of the spleen was performed in 32 patients, using a recently invented instrument, which consists of a spring-trigger system for firing the two parts of a Tru-Cut needle. The biopsies were carried out under the guidance of an ultrasonic scanner. This technique yields sufficient material of high quality for a proper evaluation both of individual cells and the internal structure of the spleen. Eight patients had parenchymal abnormalities found by ultrasonic scanning: five had multiple abnormalities whereas three had a single abnormal area. Seven of these eight patients had a pathological spleen biopsy, consisting of Hodgkin's disease (four patients), "high-grade" malignant non-Hodgkin's lymphoma (two patients) or tuberculosis (one patient). In the other 24 patients with a normal ultrasonic picture of the splenic parenchyma five biopsies were pathological (3 cases of hairy-cell leukaemia, 1 of Gaucher's disease and 1 of Hodgkin's disease). Side-effects were: slight to moderate pain (16/32 patients) and bleeding requiring transfusion (4/32 patients). In one of these patients splenectomy was performed because of the bleeding. Two of the patients with bleeding complications suffered from hairy-cell leukaemia. It is concluded from this study that excision biopsy of the spleen is a diagnostic method which in some patients can replace splenectomy. The method seems to be valuable especially in patients with parenchymal abnormalities shown by ultrasonic scanning.

Adolescent↗
PubMed1998

Clotting times and antithrombin III activity in cats with naturally developing diseases: 85 cases (1984-1994).

OBJECTIVE: To determine the prevalence of abnormalities of in vitro prothrombin time (PT) and activated partial thromboplastin time (APTT), or antithrombin III (ATIII) activity or all 3 variables in cats; and the association of abnormalities of these variables with naturally developing diseases or disorders. DESIGN: Retrospective study. ANIMALS: 85 cats from which blood had been obtained for measurement of a coagulation profile (PT, APTT, and ATIII activity) and concentration of fibrin degradation products. PROCEDURE: Medical records from the Texas A&M College of Veterinary Medicine were reviewed to determine clinical diagnosis, results of CBC and coagulation profile, and clinical evidence of abnormal bleeding or thrombotic disease. RESULTS: 38 cats had one or more abnormality in the coagulation profile; most had multiple abnormalities. Twenty of these 38 cats had concurrent thrombocytopenia. Thrombocytopenia was identified in 9 of 47 cats in which results of the coagulation profile were normal. Most cats did not have clinical evidence of a coagulation disorder, and testing had been requested as part of a diagnostic work-up or before surgery. Diseases commonly associated with laboratory evidence of a coagulation disorder, either singly or in combination, included hepatic disease, neoplasia, and systemic infections. CLINICAL IMPLICATIONS: On the basis of laboratory evidence, hemostatic disorders develop more commonly in cats than clinical signs would suggest. Coagulation profiles may be warranted in high-risk cats to alert clinicians to potential problems.

Animals↗
PubMed1985

Any place for antenatal diagnosis in the third trimester of pregnancy?

The need for a means of antenatal diagnosis of chromosomal abnormalities in the last trimester of pregnancy to avoid unnecessary intervention for the sake of the fetus is illustrated by a case in which polyhydramnios and suspected fetal hydrocephalus were found by ultrasound at 36 weeks gestation. The mother decided against early caesarian section for possible neurosurgery for the fetus. Later, she delivered vaginally of a baby with multiple abnormalities and trisomy 18.

Abnormalities, Multiple↗
PubMed1991

Multiple sclerosis with abnormal cerebrospinal fluid--a case report.

Multiple sclerosis is an uncommon demyelinating condition in Singapore. The commonest mode of presentation here is in the form of Devic's syndrome. Although our patients here have shown classical findings with respect to clinical features, neuroimaging studies and electrophysiologic tests, abnormal cerebrospinal fluid changes have not been reported locally. We report the first case of multiple sclerosis with abnormal cerebrospinal fluid changes. We also reviewed cerebrospinal fluid changes in multiple sclerosis and recent advances in laboratory techniques of cerebrospinal fluid analyses.

Adolescent↗
PubMed1987

Reduced signal intensity on MR images of thalamus and putamen in multiple sclerosis: increased iron content?

High-field-strength (1.5-T) MR imaging was used to evaluate 47 patients with definite multiple sclerosis and 42 neurologically normal control patients. Abnormal, multiple foci of increased signal intensity on T2-weighted images, most prominent in the periventricular white matter, were apparent in 43 of 47 MS patients and in two of 42 control patients. A previously undescribed finding of relatively decreased signal intensity most evident in the putamen and thalamus on T2-weighted images was seen in 25 of 42 MS patients and correlated with the degree of white-matter abnormality. In the normal control patients a prominently decreased signal intensity was noted in the globus pallidus, as compared with the putamen or thalamus, correlating closely with the distribution of ferric iron as determined in normal Perls'-stained autopsy brains. The decreased signal intensity (decreased T2) is due to ferritin, which causes local magnetic field inhomogeneities and is proportional to the square of the field strength. The decreased T2 in the thalamus and striatum in MS may be related to abnormally increased iron accumulation in these locales with the underlying mechanism remaining speculative.

Adult↗
PubMed2002

Genome-wide appraisal of thyroid cancer progression.

Several lines of evidence suggest that follicular cell-derived thyroid cancers represent a continuum of disease that progresses from the highly curable well-differentiated thyroid cancers to the universally fatal anaplastic cancers. However, the genetic mechanisms underlying thyroid cancer progression remain ill defined. We compared the molecular-cytogenetic profiles derived from comparative genomic hybridization (CGH) analysis of major histological variants of thyroid cancer to define genetic variables associated with progression. Overall, a sequential increase in chromosomal complexity was observed from well-differentiated papillary thyroid cancer to poorly differentiated and anaplastic carcinomas, both in terms of the presence of CGH detectable abnormalities (P = 0.003) and the median number of abnormalities per case (P < 0.001). The presence of multiple abnormalities common to all thyroid cancer variants, including gains of 5p15, 5q11-13, 19p, and 19q and loss of 8p, suggests that these tumors are derived from a common genetic pathway. Gains of 1p34-36, 6p21, 9q34, 17q25, and 20q and losses of 1p11-p31, 2q32-33, 4q11-13, 6q21, and 13q21-31 may represent secondary events in progression, as they were only detected in poorly differentiated and anaplastic carcinomas. Finally, recurrent gains at 3p13-14 and 11q13, and loss of 5q11-31 were unique to anaplastic carcinomas, suggesting they may be markers for anaplastic transformation. Our data suggests that the development of chromosomal instability underlies the progression to more aggressive phenotypes of thyroid cancer and sheds light on the possible genomic aberrations that may be selected for during this process.

Adult↗
PubMed2000

Centrosome-centriole abnormalities are markers for abnormal cell divisions and cancer in the transgenic adenocarcinoma mouse prostate (TRAMP) model.

We utilized the transgenic adenocarcinoma mouse prostate (TRAMP) model to study the formation of abnormal mitosis in malignant tumors of the prostate. The results presented here are focused on centrosome and centriole abnormalities and the implications for abnormal cell divisions, genomic instability, and apoptosis. Centrosomes are microtubule organizing organelles which assemble bipolar spindles in normal cells but can organize mono-, tri-, and multipolar mitoses in tumor cells, as shown here with histology and electron microscopy in TRAMP neoplastic tissue. These abnormalities will cause unequal distribution of chromosomes and can initiate imbalanced cell cycles in which checkpoints for cell cycle control are lost. Neoplastic tissue of the TRAMP model is also characterized by numerous apoptotic cells. This may be the result of multipolar mitoses related to aberrant centrosome formations. Our results also reveal that centrosomes at the poles in mitotic cancer cells contain more than the regular perpendicular pair of centrioles which indicates abnormal distribution of centrioles during separation to the mitotic poles. Abnormalities in the centriole-centrosome complex are also seen during interphase where the complex is either closely associated with the nucleus or loosely dispersed in the cytoplasm. An increase in centriole numbers is observed during interphase, which may be the result of increased centriole duplication. Alternatively, these centrioles may be derived from basal bodies that have accumulated in the cell's cytoplasm, after the loss of cell borders. The supernumerary centrioles may participate in the formation of abnormal mitoses during cell division. These results demonstrate multiple abnormalities in the centrosome-centriole complex during prostate cancer that result in abnormal mitoses and may lead to increases in genomic instability and/or apoptosis.

Adenocarcinoma↗
PubMed1991

The evaluation of the germinal mutagenic impact of Chernobyl radiological contamination in Hungary.

The genetic consequences of radioactive fall-out deposition from the Chernobyl (USSR) accident in Hungary was evaluated as a part of the ongoing programme on the population-based Hungarian Surveillance of Germinal Mutations. The surveillance is based on three groups of indicator conditions: 15 sentinel anomalies (indicators of germinal dominant gene mutations), Down's syndrome (an indicator of germinal numerical and structural chromosomal mutations) and unidentified multiple congenital abnormalities (indicators of germinal dominant gene and chromosomal mutations). Cases with these indicator conditions were selected from the material of the Hungarian Congenital Abnormality Registry. After the diagnostic accuracies were checked, familial and sporadic cases were separated. Only the latter group was evaluated for evidence of new mutations. The analysis did not reveal any measurable germinal mutagenic effects of the Chernobyl accident. Furthermore, there were no significant differences in the rates of these three groups of indicator conditions between regions with higher and lower increased background radiation.

Abnormalities, Multiple↗
PubMedDate not supplied

Sonographic, pathologic and karyotypic findings in a rare case of placenta fenestrata.

Abnormalities of placental shape are occasionally seen on ultrasound. They have not been reported to be associated with abnormalities in fetal anatomy and karyotype. Here, we report on a rare case of placenta fenestrata with triploid karyotype. A 15-year-old patient presented at 21 weeks and 3 days gestation for ultrasound evaluation following an abnormal triple screen and abnormal ultrasound. Multiple fetal abnormalities were noted as well as several cystic areas with pulsatile flow on Doppler ultrasound in the placenta. After termination of the pregnancy, a rare abnormality in the placental shape, placenta fenestrata, was noted. The fetal karyotyping showed a triploid karyotype. This is the first reported case of placenta fenestrata diagnosed on ultrasound. In addition, this is also the first reported case of karyotype abnormality associated with abnormality of placental shape.

Abnormalities, Multiple↗