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PubMed1992

Analysis of serum human chorionic gonadotrophin levels in normal singleton, multiple and abnormal pregnancies.

Some researchers claim that first trimester beta-human chorionic gonadotrophin (beta HCG) levels have a constant doubling time; others suggest doubling time increases as pregnancy progresses. This study was designed to settle the debate by analysing a large series of serial serum beta HCG determinations from 143 pregnant women whose day of ovulation was precisely determined. Regression analysis was used to evaluate linear and quadratic models for the relationship of HCG with time in normal pregnancies. Doubling times were calculated for three time periods: 10-20 days post-ovulation (period 1); 21-30 days post-ovulation (period 2); greater than 30 days post-ovulation (period 3). Analysis of variance was used to compare the mean doubling time by time period and type of pregnancy (single, multiple, spontaneous abortion and ectopic). The analysis showed that a quadratic model best described the pattern of HCG rise in early normal pregnancy. Furthermore, for normal pregnancies, the mean doubling time increased significantly with advancing gestational age between time periods 1 and 2 and between periods 2 and 3. The mean doubling time was the same for single and multiple pregnancies. The doubling time was prolonged with ectopic pregnancy in period 1; and for aborters reaching ultrasound at 8 weeks, the doubling time was normal in period 1 but prolonged in period 2. Careful observation of the doubling time may aid clinicians in the detection of abnormal pregnancies.

Abortion, Spontaneous↗

PubMed1987

Colour vision abnormalities in multiple sclerosis.

A battery of colour vision tests was employed to evaluate visual function in patients with multiple sclerosis (M.S.). Colour deficits were found in 45% of patients tested with the Ishihara plates and 42.5% of patients tested with the FM 100-Hue test. 65% of M.S. patients failed at least one of the tests. The colour vision deficits were not restricted to patients with optic neuritis or with visual evoked potential (VEP) abnormalities and there was no significant correlation between an abnormal VEP latency and a colour vision deficit. Colour vision testing may be a useful option to consider in the investigation of M.S. patients, even if there is no other evidence of visual system involvement.

Adult↗

PubMed1996

Acute myelomonocytic leukaemia with 11q23 abnormality during multiple myeloma: is this related to anthracycline?

The clinical course of a 66-year-old man diagnosed with multiple myeloma is described. Chemotherapy including alkylating agents had no effect, and so he was treated with vincristine, doxorubicin, and dexamethasone. His bone tumor was treated with localized radiation after two courses of chemotherapy. After these treatments, monocytosis was found and dysplastic changes were noted in the bone marrow. A cytogenetic study revealed t(9;11)(p22;q23), an abnormality which had previously been absent. A diagnosis of myelodysplastic syndrome (MDS) was newly established, and transformation to acute non-lymphocytic leukaemia (ANLL) was observed 6 months later. The cumulative doses of melphalan, cyclophosphamide, doxorubicin, and radiation therapy were 432 mg, 4,200 mg, 120 mg, and 4,000 cGy, respectively. The cytogenetic abnormality suggested that this patient's MDS/ANLL was related to doxorubicin and not talk to alkylating agents, although the dose of doxorubicin administered was quite low.

Aged↗

PubMed1994

[Marked effectiveness of the LH-RH analogue in a case of prostate cancer with large lymph node metastasis].

A 78-year-old man visited our hospital complaining of pollakisuria, dysuria, and edema of lower extremities. Physical examination revealed a hard, fixed and fist size mass in the abdomen Lymph nodes of left supraclavicular fossa were hardly palpable. His prostate was larger than a hen's egg, stony hard and fixed in the pelvis on digital rectal examination (DRE). The prostate specific antigen (PSA) level was elevated to 584 ng/ml. Computerized tomography (CT) revealed enlarged retroperitoneal lymph nodes. Bone scan showed multiple abnormal uptake. Prostate biopsy showed poorly differentiated adenocarcinoma. Treatment with the LH-RH analogue was very effective. The retroperitoneal lymph nodes were no longer enlarged on CT. The prostate had become soft and was reduced to walnut size on DRE. The PSA level had decreased to within the normal range. The multiple abnormal uptake on the bone scan decreased. This is the 21st case of prostate cancer with large lymph node metastasis in Japan.

Adenocarcinoma↗

PubMed1992

Hemostatic abnormalities in multiple myeloma and related disorders.

Patients with multiple myeloma, Waldenström's macroglobulinemia, benign monoclonal gammopathy, and other B-cell disorders associated with high titer serum paraproteins can manifest unique hemostatic disorders. Most of these disorders predispose the patient to hemorrhage, especially following surgical procedures. Mechanisms can include: acquired von Willebrand syndrome, paraprotein-induced platelet function defects, factor X deficiency, and local tissue fragility associated with amyloidosis, abnormalities of the function of fibrin, circulating anticoagulants, and thrombocytopenia. The mainstay of therapy is the treatment of the underlying disease. Depending on clinical circumstances, additional therapies might include: plasmapheresis with appropriate factor replacement, arginine vasopressin, fibrinolysis inhibitors, and splenectomy. Less commonly, the paraprotein disorders are associated with thrombotic complications, especially in those cases in which the lupus anticoagulant is present.

Blood Coagulation Disorders↗

PubMed1994

A fetus with an abnormal chromosome 7 and possible hydrolethalus syndrome.

A fetus with multiple abnormalities phenotypically similar to hydrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial deletion of the terminal segment of the long arm of chromosome 7 and a small rearrangement within the proximal half of the p arm of the same chromosome. Terminal deletions of chromosome 7q fall into two broad phenotypic groups, neither of which resembles this fetus, but the digital anomalies are attributed to the 7p rearrangement disrupting the Greig syndrome gene.

Abnormalities, Multiple↗

PubMed1991

Biochemical abnormalities in multiple myeloma.

Monoclonal gammopathies can either be benign or more commonly malignant. The commonest disease associated with it is multiple myeloma. Over the seven-year period 1984-1990, two hundred and thirty-four monoclonal gammopathies were seen at the University Hospital, Jamaica. Multiple myeloma was diagnosed in one hundred and fifty-six cases (84 males and 72 females). The diagnoses of most of the others were not known as the samples came from other institutions. Of the patients with myeloma, the most common immunoglobulin type was IgG followed by IgA and then pure light chain disease. Only in about half of the cases where urine was analysed was Bence-Jones protein found. The majority of the cases had abnormal total serum protein, albumin and total globulin concentrations. Most of the cases also were in renal failure. Hypercalcaemia, hyperphosphataemia, elevated alkaline phosphatase, gammaglutamyl transferase and aspartate aminotransferase occurred in about one-third of them. These results were not much different from those reported in other countries.

Adult↗

PubMed2002

Functional significance of genetic abnormalities in multiple myeloma.

Multiple myeloma (MM) is a B-cell neoplasm characterized by infiltration of the bone marrow with malignant plasma cells, synthesizing and secreting monoclonal immunoglobulin fragments. The malignant transformation of this terminally differentiated plasma cell is the result of a multistep transformation process. In spite of recent advances in this field, the cause and the exact molecular genetic basis of MM remain obscure. In this review, an attempt has been made to summarize the genetic alterations having functional significance in the generation and progression of MM, and also the existing relationship between genetic abnormalities and chemosensitivity, as well as the typical genetic alterations in various MM subgroups. Factors known to have a role in the conversion of monoclonal gammopathy of unknown significance (MGUS) to MM are also reviewed.

Cell Transformation, Neoplastic↗

PubMed2001

Swallowing abnormalities in multiple sclerosis: correlation between videofluoroscopy and subjective symptoms.

The purpose of this study was to evaluate if subjective symptoms indicating an impaired deglutition correlate with videofluoroscopic findings in patients with multiple sclerosis (MS). Videofluoroscopic examinations of 18 MS patients were analyzed by a radiologist and a logopedist and compared with the symptoms of these patients. Four patients complained about permanent dysphagia. Six patients reported mild and intermittent difficulties in swallowing, but were asymptomatic at the time of videofluoroscopy. Eight patients had no symptoms regarding their deglutition. All patients ( n=4) who complained of permanent dysphagia showed aspiration. All patients ( n=6) with mild and intermittent difficulties in swallowing showed undercoating of the epiglottis and/or laryngeal penetration. Of those 8 patients without any swallowing symptoms, only 2 had a normal videofluoroscopy. Swallowing abnormalities seem to be much more frequent in patients with MS than generally believed and they may easily be missed clinically as long as the patients do not aspirate.

Adult↗

PubMed2005

Activation of the canonical Wnt/beta-catenin pathway confers growth advantages in c-Myc/E2F1 transgenic mouse model of liver cancer.

BACKGROUND/AIMS: Previously, we showed that activation of the beta-catenin/Wnt pathway is a dominant event during c-Myc/E2F1 hepatocarcinogenesis. Majority of c-Myc/E2F1 HCCs displayed nuclear accumulation of beta-catenin in the absence of beta-catenin mutations, suggesting that alterations in other members of the Wnt pathway might be responsible for nuclear localization of beta-catenin. Here, we investigated the mechanisms responsible for nuclear translocation of wild-type beta-catenin and addressed the potential contribution of the Wnt pathway in c-Myc/E2F1 hepatocarcinogenesis. METHODS: Status of the members of the Wnt pathway was determined through microsatellite and Western blot analysis. RESULTS: Majority of c-Myc/E2F1 HCCs exhibited multiple abnormalities in the Wnt pathway regardless of the presence of beta-catenin mutations. The observed abnormalities included overexpression of Wnt-1, Frizzled 1 and 2 receptors, Dishevelled-1, downregulation of Secreted frizzled-related protein-1, GSK-3beta inactivation, microsatellite instability at the Axin locus as well as induction of beta-catenin target genes, such as glutamine synthetase, glutamate transporter-1, and Wisp-1. HCCs with beta-catenin activation displayed significantly higher proliferation rate and larger tumor size when compared with beta-catenin negative tumors. CONCLUSIONS: The data demonstrate that multiple abnormalities in the members of the Wnt pathway lead to nuclear accumulation of beta-catenin and suggest that activation of Wnt pathway provides proliferative advantages in c-Myc/E2F1-driven hepatocarcinogenesis.

Animals↗

PubMed2004

MDS/AML-associated cytogenetic abnormalities in multiple myeloma and monoclonal gammopathy of undetermined significance: evidence for frequent de novo occurrence and multipotent stem cell involvement of del(20q).

Multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) are characterized cytogenetically by 14q32 rearrangements, -13/13q-, and various trisomies. Occasionally, karyotypic patterns characteristic of myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) occur in MM, often signifying therapy-related (t)-MDS/t-AML. Comparison of cytogenetic features in all published MMs (n = 993) and t-MDS/t-AML post-MM (n = 117) revealed significant differences in complexity and ploidy levels and in most genomic changes. Thus, these features often can be used to distinguish between MM and t-MDS/t-AML. Rarely, myeloid-associated aberrations are detected in MM without any signs of MDS/AML. To characterize such abnormalities in MM/MGUS, we ascertained all 122 MM and 26 MGUS/smoldering MM (SMM) cases analyzed in our department. Sixty-six (54%) MMs and 8 (31%) MGUS/SMMs were karyotypically abnormal, of which 6 (9%) MMs and 3 (38%) MGUS/SMMs displayed myeloid abnormalities, that is, +8 (1 case) and 20q- (8 cases) as the sole anomalies, without any evidence of MDS/AML. One patient developed AML, whereas no MDS/AML occurred in the remaining 8 patients. In one MGUS with del(20q), fluorescence in situ hybridization analyses revealed its presence in CD34+CD38- (hematopoietic stem cells), CD34+CD38+ (progenitors), CD19+ (B cells), and CD15+ (myeloid cells). The present data indicate that 20q- occurs in 10% of karyotypically abnormal MM/MGUS cases and that it might arise at a multipotent progenitor/stem cell level.

Aged↗

PubMed1996

Upper urinary tract abnormalities in multiple sclerosis patients with urinary symptoms.

OBJECTIVE: To determine the prevalence of upper urinary tract complications in multiple sclerosis (MS) patients with urinary symptoms, and to determine if an association exists between degree of physical impairment and upper urinary tract complications. DESIGN AND SETTING: A cohort study of MS patients seeking treatment at a freestanding, university-affiliated rehabilitation hospital. PARTICIPANTS: A referred sample of 48 patients with MS, exacerbation-free for 6 months with symptoms of neurogenic bladder dysfunction. For each patient, demographic data, disease characteristics, and urologic history was obtained. Using the Kurtzke Expanded Disability Status Scale (EDSS), participants were divided into a control (EDSS < 7) and study (EDSS >/= 7) group. INTERVENTION: Ultrasound examination of the upper urinary tract. MAIN OUTCOME MEASURE: Significant MS-related abnormalities of the upper respiratory tract. RESULTS: Ten of 48 patients (21%) had significant MS-related upper urinary tract abnormalities, which were evenly distributed between control and study groups. In the more disabled study group, abnormalities were associated with the symptom of urinary hesitancy (p < .05) and form of bladder management (p < .05). CONCLUSIONS: Routine screening for upper urinary tract complications appears indicated in a select group of MS patients with urinary symptoms.

Activities of Daily Living↗

PubMed2003

Tight junctional abnormality in multiple sclerosis white matter affects all calibres of vessel and is associated with blood-brain barrier leakage and active demyelination.

Blood-brain barrier (BBB) hyperpermeability in multiple sclerosis (MS) is associated with lesion pathogenesis and has been linked to pathology in microvascular tight junctions (TJs). This study quantifies the uneven distribution of TJ pathology and its association with BBB leakage. Frozen sections from plaque and normal-appearing white matter (NAWM) in 14 cases were studied together with white matter from six neurological and five normal controls. Using single and double immunofluorescence and confocal microscopy, the TJ-associated protein zonula occludens-1 (ZO-1) was examined across lesion types and tissue categories, and in relation to fibrinogen leakage. Confocal image data sets were analysed for 2198 MS and 1062 control vessels. Significant differences in the incidence of TJ abnormalities were detected between the different lesion types in MS and between MS and control white matter. These were frequent in oil-red O (ORO)(+) active plaques, affecting 42% of vessel segments, but less frequent in ORO(-) inactive plaques (23%), NAWM (13%), and normal (3.7%) and neurological controls (8%). A similar pattern was found irrespective of the vessel size, supporting a causal role for diffusible inflammatory mediators. In both NAWM and inactive lesions, dual labelling showed that vessels with the most TJ abnormality also showed most fibrinogen leakage. This was even more pronounced in active lesions, where 41% of vessels in the highest grade for TJ alteration showed severe leakage. It is concluded that disruption of TJs in MS, affecting both paracellular and transcellular paths, contributes to BBB leakage. TJ abnormality and BBB leakage in inactive lesions suggests either failure of TJ repair or a continuing pathological process. In NAWM, it suggests either pre-lesional change or secondary damage. Clinically inapparent TJ pathology has prognostic implications and should be considered when planning disease-modifying therapy.

Adolescent↗

PubMed1999

Disruption of ATM in p53-null cells causes multiple functional abnormalities in cellular response to ionizing radiation.

ATM is a member of the large phosphatidylinositol-3 kinase family and plays an important role in cellular response to DNA damage. To further define the physiological roles of ATM at the cellular level, we created an isogenic set of stable cell lines differing only in their ATM status from the chicken B cell line DT40 by targeted integration. These stable DT40 cell lines, as most of transformed chicken cell lines, do not express p53. However, ATM-/- DT40 cells displayed retarded cellular proliferation, defective G2/M checkpoint control and radio-resistant DNA synthesis. Furthermore, ATM-/- DT40 cells were sensitive to ionizing radiation and showed highly elevated frequencies of both spontaneous and radiation-induced chromosomal aberrations. In addition, a slight but significant reduction in targeted integration frequency was observed in ATM-/- DT40 cells. These results suggest that ATM has multiple p53-independent functions in cell cycle checkpoint control and in maintenance of chromosomal DNA. These ATM deficient DT40 clones therefore provide a useful model system for analysing p53-independent ATM functions.

Animals↗

PubMed1976

Immunoglobulin abnormalities in multiple sclerosis. Relation to clinical parameters: disability, duration and age of onset.

Cerebrospinal fluid (CSF) and serum from 35 pairs of multiple sclerosis (MS) patients were analysed as regards mononuclear pleocytosis, concentrations of total protein, immunoglobulin G and A and beta-trace protein, and kappa:lambda ratios, as well as the serum/CSF ratios of IgG and albumin. The disability of the patients differed, whereas the age and the duration of the disease were similar in each pair. Similar analyses were also performed on CSF and serum from 72 patients, who were subdivided according to age at onset and severity of the disease. The highest mean values of the CSF-IgG and the lowest mean values of the serum/CSF IgG ratios were found in the more disabled patients. CSF immunoglobulin abnormalities were encountered more often and were more pronounced in the patients with the most malignant course of the disease, i.e., in those with severe disability after a short duration of the disease (less than 10 yr) and in severely disabled patients with an early age at onset of the disease(less than 25 yr). Contrarily, normal mean values of CSF-IgG concentrations and serum/CFS/IgG ratios were found in the groups of patients without disability after a duration of the disease of 10 years or more, and patients without disability and an early age at onset of the disease (less than 25 yr). The observations indicate that the immune response is most vigorous in disabled patients with a short duration or with an early age at onset of the disease. MS patients with a late age at onset (greater than 35 yr) showed a less pronouced immune response within the CNS, irrespective of the occurrence of disability. The most disabled patients also showed the most severe blood-brain barrier damage as manifested by high mean values of total protein in CSF and low serum/CSF albumin ratios. The patients with severe disability and a long duration of the disease (greater than 10 yr) had the highest content of beta-trace protein in the CSF, probably as a sign of destruction of brain matter.

Adult↗

PubMed1995

Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube.

The hypothesis that during human embryogenesis there is multi-site closure of the neural tube, with possibly regionally distinct genetic control, is examined in the light of the neural tube defects (NTD) observed in trisomy 13, trisomy 18 and triploidy which survive at least to the mid-trimester. In a series of mid-trimester fetuses examined post-mortem, there were two spina bifidas in 25 cases of trisomy 13; eight spina bifidas and one anencephalic among 38 trisomy 18 individuals; and three spina bifidas in 13 triploids. Not only was there a predominance of spina bifida, but all the spina bifidas were similar in location along the neuraxis: regardless of chromosome constitution, they were all sacral or lumbosacral. A survey of the literature confirms this finding. While this regionally distinct type of NTD is not specific to a particular chromosome abnormality and thus by implication to any particular gene, it does seem to be specific to an imbalance caused by an excess of genetic material of a type which permits survival past the first few post-conception weeks, and thus lends some support to the hypothesis.

Chromosome Aberrations↗

PubMed2001

A new meiotic abnormality in Zea mays: multiple spindles associated with abnormal cytokinesis in both divisions.

Abstract: We report here a new meiotic abnormality recorded in one plant of an inbred line of Zea mays. After an apparently normal prophase I, chromosomes did not congregate in a single metaphase plate. Bivalents remained scattered in the cytoplasm, giving rise to several spindles. Despite the occurrence of multiple spindles, meiosis I proceeded normally, forming a varied number of nuclei at telophase I. The presence of one or a few chromosomes in the nucleus was enough to induce local cytokinesis, which was evident from metaphase I. Each cell resulting from meiosis I expressed its own program and progressed through the cell cycle. Therefore, failure of chromosome congregation on a single plate also occurred at meiosis II, where further irregular cytokinesis was observed. As a consequence of the two abnormalities, polyads occurred, resulting in pollen grains of different sizes and in sterility at a frequency of up to 93.5%.

Brazil↗

PubMed2000

Magnetic resonance diffusion tensor imaging for characterizing diffuse and focal white matter abnormalities in multiple sclerosis.

High-resolution diffusion tensor imaging (DTI) was performed in 14 patients with clinically definite multiple sclerosis (MS) and the trace of the diffusion tensor ( ) and the fractional anisotropy (FA) were determined in normal appearing white matter (NAWM) and in different types of focal MS lesions. A small but significant increase of the in NAWM compared to control white matter ((840 +/- 85) x 10(-6) mm(2)/sec vs. (812 +/- 59) x 10(-6) mm(2)/sec; P < 0.01) was found. In addition, there was a significant decrease in the FA of normal-appearing regions containing well-defined white matter tracts, such as the genu of the internal capsule. In non-acute lesions, the of T(1)-hypointense areas was significantly higher than that of T(1)-isointense lesions ((1198 +/- 248) x 10(-6) mm(2)/sec vs. (1006 +/- 142) x 10(-6) mm(2)/sec; P < 0. 001), and there was a corresponding inverse relation of FA. Diffusion characteristics of active lesions with different enhancement patterns were also significantly different. DTI with a phase navigated interleaved echo planar imaging technique may be used to detect abnormalities of isotropic and anisotropic diffusion in the NAWM and selected fiber tracts of patients with MS throughout the entire brain, and it demonstrates substantial differences between various types of focal lesions.

Adult↗