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PubMed1994

Multiple karyotypic abnormalities in three cases of small cell variant of T-cell prolymphocytic leukemia.

Cytogenetic, clinical, and laboratory findings of three patients with a small cell variant of T-cell prolymphocytic leukemia (T-PLL) are presented. Immunophenotypic studies of the morphologically typical small cell variant prolymphocytes showed a mature helper T-cell phenotype (CD4+CD8-) in one patient and a common thymocyte phenotype (CD4+ CD8+) in two other patients. The cytogenetic analysis revealed complex karyotypes with several structural aberrations in the peripheral blood lymphocytes of all three patients. In all cases chromosome 14 was affected with the breakpoint at 14q11. Inversion (14) and isochromosome 8q, often reported as an additional aberration in T-PLL, were detected in two of the patients. In two patients a translocation of the short arm of chromosome 12 was also seen. The T-cell receptor beta-chain gene showed a clonal rearrangement in all three patients, whereas no rearrangements were detected in the immunoglobulin genes. The survival of the patients ranged from 10 weeks to 48 months. The association between cytogenetic, clinical, and laboratory data is discussed.

Adult↗
PubMed1991

The function of the CD2 protein is abnormal in multiple sclerosis.

In active multiple sclerosis (MS), T cell adhesion to sheep red blood cells (SRBC) is deficient. The CD2 protein mediates adhesion to SRBC. Since ligands that bind CD2 can activate T cells, we studied adhesion and activation through CD2 in leukocytes from MS patients. Mononuclear cells (MNC) from patients with MS formed markedly fewer avid T cells (TA; T cells binding greater than or equal to 10 SRBC) than MNC from controls. CD2 antigen expression as measured by FACS analysis on T cells and on T cell subsets was equivalent in MS and controls and rose to a comparable extent in both groups after cell activation; yet activated MS MNC continued to form fewer TA than control cells. Avid rosette formation may be reduced by prostaglandins (PG) secreted by monocytes. Exposure to PG in vitro decreased TA% only in controls, suggesting refractoriness to exogenous PG in MS, perhaps because endogenous PG had already acted. The finding that indomethacin increased TA in MS cells favors this formulation. MNC were activated through CD2 using mAb 9-1 paired with mAb 9.6. Proliferation was significantly diminished in MNC from MS patients compared to MNC from normal controls. Thus, even though T cell membrane expression of CD2 appeared normal in MS, adhesion to SRBC and activation through the CD2 protein were defective.

Alprostadil↗
PubMed2005

Does statin monotherapy address the multiple lipid abnormalities in type 2 diabetes?

Lipid abnormalities, which are common in type 2 diabetes, predispose to a greatly increased risk of coronary heart disease. This characteristic dyslipidaemia includes decreased concentrations of high-density lipoprotein cholesterol (HDL-C), elevated triglycerides, and a small, dense, atherogenic form of low-density lipoprotein cholesterol (LDL-C). Insulin resistance and obesity, which is commonly present in type 2 diabetes, act in concert to disrupt normal lipoprotein metabolism; reverse cholesterol transport in particular. The proatherogenic changes, which result from this process include enrichment of very-low-density lipoprotein with cholesteryl esters and enrichment of LDL with triglycerides. Results from both the Pravastatin Pooling Project and the Heart Protection Study demonstrate that, although people with diabetes obtain the same relative risk reduction with statin therapy, the absolute benefit derived is much lower than for comparable individuals without diabetes. In order to achieve improved outcomes in diabetes patients, it will be important to address other abnormalities in their lipid profiles, including elevated triglycerides and low HDL-C.

Adipose Tissue↗
PubMed2004

Multiple chromosomal abnormalities in human liver (pre)neoplasia.

BACKGROUND/AIMS: In human hepatocarcinogenesis the tumor precursor lesions and the sequence of genetic aberrations are not known. We therefore compared genetic alterations of different types of benign liver lesions to those of hepatocellular carcinoma. METHODS: By comparative genomic hybridisation (CGH) 40 cases, including cirrhotic liver (CL), focal nodular hyperplasia (FNHs), hepatocellular adenoma (HCAs), dysplastic nodules (DNs), primary hepatocellular carcinoma (HCCs), and hepatocellular metastases to the lung were studied. RESULTS: FNHs and HCAs exhibited few chromosomal abnormalities. Frequency and pattern of genetic alterations in DNs highly resembled those in HCCs: gains of DNA clustered in chromosome arms 1p/q, 7q, 15q, 16p, 17q, and 20q and losses were often found at 3p, 4q, 9p, and 11q. Aberrations on 1p, 6q, 8p/q, and 13q occurred almost exclusively in HCCs; the gain at 8q encompassed amplification of c-myc, as verified by fluorescence in situ hybridisation. CONCLUSIONS: The pattern of genetic alterations in HCCs resembled more the alterations found in DNs than in FNHs and HCAs, suggesting that DNs may be the actual tumor precursors. Furthermore, alterations at 4q, 9p, 11q, 16p, and 17q appear as early genetic events being crucial for hepatocarcinogenesis.

Adenoma, Liver Cell↗
PubMed2006

Predicting neuropsychological abnormalities in multiple sclerosis.

Multiple Sclerosis (MS) is associated with MRI signal alteration and neuropsychological (NP) dysfunction. Screening tools have been developed to identify patients at high risk for these neurological complications of MS. One such measure, the Multiple Sclerosis Neuropsychological Screening Questionnaire (MSNQ), has well-established reliability and predictive validity. In this article, we report on the accumulated findings derived from 162 consecutive research participants and MS clinic attendees. Our data show significant correlation between both patient- and informant-report MSNQ and NP impairment. As shown previously, larger, and more significant correlations are found between informant-report MSNQs than with patient-report MSNQs. In addition, we find that the MSNQ predicts follow-up NP testing 51 weeks after baseline with a similar degree of association. Finally, the MSNQ is correlated with MRI measures of whole-brain lesion burden and atrophy, secondary progressive course, and vocational disability. We conclude that the MSNQ is reliable and valid for detecting neuropsychological and neuropsychiatric complications of MS.

Adult↗
PubMed2005

A potential role for centrosomal deregulation within IgH translocation-positive myeloma.

Multiple myeloma is a late stage B-cell malignancy that is characterized by recurrent translocations into the immunoglobulin heavy chain locus as well as multiple and complex chromosomal abnormalities. Multiple myeloma is not characterized by a defining IgH translocation partner locus; rather, the frequency of individual translocations ranges from 5% to 15% of the patient population. The current hypothesis that IgH translocations contribute to chromosomal instability through the augmented expression of cyclin D family members and upstream regulatory gene products has led to the development of clinical therapies targeting these potentially oncogenic gene products. Here, we postulate that IgH translocations affect both cyclin D family members and spindle assembly pathways. In forming the hypothesis, this manuscript provides a mechanistic connectivity between IgH translocations and associated chromosome 13 deletions and highlights a number of additional gene products that, along with already defined target genes, may be deregulated in myeloma and represent potential therapeutic targets.

Animals↗
PubMed1998

A patient with meningioma showing multiple cytogenetic abnormalities and a constitutional translocation (3;9)(q13.3;q22).

Several different clonal abnormalities in both hypo- and hyperdiploid cell lines were observed in tumor cells of a 35-year-old man with a syncytial meningioma. A translocation involving chromosomes 3 and 9, t(3;9)(q13.3;q22), was present in all analyzable tumor cells and proved to be constitutional. The breakpoints 3q13.3 and 9q22 are involved in acquired karyotypic abnormalities in a number of tumors and might be situated near a tumor suppressor gene. The development of malignancies has been observed in patients with constitutional translocations involving 3q13.3 but not 9q22. We conclude that translocations involving 3q13.3 and maybe 9q22 could present constitutional chromosomal abnormalities predisposing for the development of a malignancy. Patients in whose tumor cells a translocation involving 3q13.3 or 9q22 is observed should be checked for a similar constitutional abnormality.

Adult↗
PubMed1999

Ultrasonic markers of fetal chromosomal abnormalities.

OBJECTIVE: The aim of this brief investigation was to correlate the most common sonographically detectable markers with certain type of chromosomal disorder diagnosed by available karyotyping procedures. STUDY DESIGN: During the 3 year study period fetal karyotyping was performed in 1055 patients for a variety of clinical indication. Twenty one percent (21%; 222/1055) of procedures were done because of sonographically detectable structural disorders related to phenotype expression of chromosomopathies. Sonographic examinations and karyotyping procedures were performed between the 10th and 36th week. The average maternal age was 27 years, unselected. RESULTS: The fetal karyotype was abnormal in 13.5% of cases (30/222). Within the group of single marker, 11.6% (7/60) of karyotypes were abnormal. Multiple markers of chromosomal abnormalities resulted in 14.2% (23/162) of abnormal karyotypes. The most frequent chromosomal disorder detected in sonographic screening is trisomy 18 (50%; 15/30). The data on the frequency of different types of chromosomal abnormalities are given. CONCLUSIONS: The incidence of chromosomal abnormalities for ultrasonographically detectable malformations is much higher than the incidence reported in screening studies based on maternal age or biochemical screening. Trisomy 21 showed the relative lack of variety in phenotypic expression, and nuchal translucency screening has to be accepted rationally. Associated numerous major and minor malformations were the most prominent factors leading to the diagnosis of chromosomopathies, particularly trisomy 18.

Adolescent↗
PubMed1999

Sequential neuromotor examination in children with intrauterine cocaine/polydrug exposure.

Data are presented on 157 newborn infants followed sequentially in a randomized home-based nursing-intervention trial for drug-exposed infants with follow up at 3 (N=118), 6 (N=124), and 12 months (N=77). The objectives of this study were to describe the longitudinal neurodevelopmental status of a cohort of children with intrauterine exposure to illicit drugs during their gestation, characterize the evolution of early tone abnormalities in a polydrug-exposed cohort, and determine whether neuromotor outcome is associated with drug-exposure patterns. For analysis, infants were grouped based on maternal drug-use pattern and the presence of drug metabolites in the neonatal drug screen. The sequential neuromotor examination was used at each age to define the neuromotor status of six domains and define categorical classifications as either normal, suspect, or abnormal. Multiple patterns of neuromotor abnormalities were observed during the neonatal period; most resolved over time. Axial hypotonia was a prominent finding in the neonatal period; however, it was infrequent in abnormal examinations at 12 months. Increased lower-extremity tone was a less frequent finding during the neonatal period. Infants whose neonatal urine drug screen was positive for both cocaine and opiates, were more likely than infants with negative urine drug screens, cocaine only, or opiate only drug screen results to have abnormal neuromotor examinations; while positive maternal drug screens for concurrent cocaine and opiate use were associated with peripheral hypertonia. Persistence of increased leg-extensor tone was found in 67% of the abnormal examinations at 12 months. Acquisition of rolling and walking was delayed in the drug-exposed cohort.

Age Factors↗
PubMed1996

Multiple immune abnormalities in tumor necrosis factor and lymphotoxin-alpha double-deficient mice.

To investigate the roles of tumor necrosis factor (TNF) and lymphotoxin (LT)-alpha in the development and function of the immune system, the Tnf and Ltalpha genes were simultaneously inactivated in mice by homologous recombination. These mutant mice are highly susceptible to Listeria monocytogenes infection and resistant to endotoxic shock induced by the combined administration of D-galactosamine (D-GaIN) and lipopolysaccharide (LPS). Their splenic microarchitecture is disorganized, characterized by the loss of the clearly defined marginal zone, ill defined T and B cell areas, and absence of MAdCAM-1 and reduced ICAM-1, VCAM-1 and Mac-1 expression. They are devoid of peripheral lymph nodes and Peyer's patches, and show a strong reduction of IgA+ plasma cells in the intestinal lamina propria. The alymphoplasia is accompanied by a marked B lymphocytosis and reduced basal lg levels. Ig depositions in the renal glomerulus and a strong up-regulation of MHC class I antigen expression on endothelial cells of different tissues are observed. The primary humoral immune response towards sheep red blood cells reveals a defective IgG isotype switch, while that against vesicular stomatitis virus is normal. The cytotoxic T cell responses are attenuated, although still effective, against vaccinia, lymphocytic choriomeningitis virus (LCMV-ARM) and LCMV-WE. In conclusion, the combined inactivation of Tnf and Ltalpha confirms their essential role in the normal development and function of the immune system.

Animals↗
PubMed2003

Central neurological abnormalities and multiple chemical sensitivity caused by chronic toluene exposure.

Multiple chemical sensitivity (MCS) is a syndrome in which multiple symptoms occur with low-level chemical exposure; whether it is an organic disease initiated by environmental exposure or a psychological disorder is still controversial. We report a 38-year-old male worker with chronic toluene exposure who developed symptoms such as palpitation, insomnia, dizziness with headache, memory impairment, euphoria while working, and depression during the weekend. Upon cessation of exposure, follow-up neurobehavioural tests, including the cognitive ability screening instrument and the mini-mental state examination, gradually improved and eventually became normal. Although no further toluene exposure was noted, non-specific symptoms reappeared whenever the subject smelled automotive exhaust fumes or paint, or visited a petrol station, followed by anxiety with sleep disturbance. During hospitalization for a toluene provocation test, there was no difference between pre-challenge and post-challenge PaCO(2), PaO(2), SaO(2) or pulmonary function tests, except some elevation of pulse rate. The clinical manifestations suggested that MCS was more relevant to psychophysiological than pathophysiological factors.

Adult↗