The utility of t(14;18) in understanding risk factors for non-Hodgkin lymphoma.

Characteristic chromosomal abnormalities are associated with specific histological subtypes of non-Hodgkin lymphoma (NHL). The chromosomal translocation t(14;18)(q32;q21) is one of the most common chromosomal abnormalities in NHL, occurring in 70%-90% of cases of follicular lymphoma, 20%-30% of diffuse large B-cell lymphoma, and 5%-10% of other less common subtypes. The t(14;18)-positive NHL may represent a homogenous group and, consequently, increase etiologic specificity in epidemiological studies.

Characterization of a familial small supernumerary marker chromosome in a patient with adult-onset tongue cancer.

Cytogenetic analysis in peripheral blood lymphocytes of a 50-year-old female with tongue cancer showed the presence of one to three copies of a small supernumerary marker chromosome (sSMC) in a mosaic state. Family studies also revealed the marker in mosaic form in four (age <29 years) of eleven clinically normal individuals studied from her family of 16 individuals spanning three generations. Due to the extremely small size of the marker chromosome, identification by classical cytogenetics was not informative.

Antifungal activity of solventlessly synthesized organomercurials.

A series of new barbituryl/thiobarbituryl substituted organomercurial derivatives 3a-i have been synthesised from pyrimidine derivatives 1a-c and arylmercuric chloride 2a-c over K(2)CO(3) under microwave irradiations (MWI). This solventless synthesis apart from eliminating organic solvent from workup step, also gave improved yield as compared to the conventional heating, with reaction time reduced from hours to minutes. The prepared compounds were tested against A.

Loss of tuberous sclerosis complex-2 function and activation of mammalian target of rapamycin signaling in endometrial carcinoma.

Purpose: The involvement of phosphatase and tensin homologue deleted on chromosome ten (PTEN) in endometrial carcinoma has implicated phosphatidylinositol 3-kinase signaling and mammalian target of rapamycin (mTOR) activation in this disease. Understanding the extent of mTOR involvement and the mechanism responsible for activation is important, as mTOR inhibitors are currently being evaluated in clinical trials for endometrial carcinoma. Although tuberous sclerosis complex 2 (TSC2) is the "gatekeeper" for mTOR activation, little is known about defects in the TSC2 tumor suppressor or signaling pathways that regulate TSC2, such as LKB1/AMP-activated protein kinase, in the development of endometrial carcinoma.

Concomitant noncontiguous level (thoracic & lumbar) spinal stenosis.

Presented here is a prospective study assessing the efficacy of decompression of concomitant noncontiguous level (thoracic & lumbar) stenosis in accordance with neurological findings, nerve root blocks, and myelographically proven disease. The objective was to determine the efficacy, clinical outcome, and functional recovery in patients undergoing simultaneous decompression. No previous study has focussed on the clinical outcome of such simultaneous decompression.

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

Purpose: Cytogenetic investigations are useful for etiologic determinations of mental retardation, developmental delay, multiple congenital anomalies, and pregnancy complications; however, the causes remain elusive in a majority of cases despite high-resolution cytogenetic studies and multiple fluorescence in situ hybridization examinations. Array-based comparative genomic hybridization has the ability to examine the genome at a higher resolution and may yield an increased detection of genetic abnormalities. The purpose of this study was to assess the use of array-based comparative genomic hybridization in a clinical genetics setting.

Dietary factors and risk of t(14;18)-defined subgroups of non-Hodgkin lymphoma.

Objective: To evaluate the associations between diet and non-Hodgkin lymphoma (NHL) according to t(14;18) status, one of the most common chromosomal abnormalities in NHL, as t(14;18)-positive NHL represents a genetically more homogeneous group than NHL overall.

Methods: We determined the presence of the t(14;18)(q32;q21) by fluorescence in situ hybridization in 172 of 175 tumor blocks from a population-based, case-control study conducted in Nebraska during 1983-1986. Information on the frequency of consumption as an adult of 30 food items was derived from the parent case-control study.

B-type natriuretic peptide (BNP) and proBNP: role of emerging markers to guide therapy and determine prognosis in cardiovascular disorders.

Over the last decade, one group of neurohormonal markers, including atrial natriuretic peptide (ANP), N-terminal pro-ANP, B-type natriuretic peptide (BNP), and N-terminal proBNP, has generated much interest in the evaluation and management of heart failure and acute coronary syndrome. There has been so much literature on the subject, especially concerning BNP and proBNP, that it leaves us confused at times about what the literature has to say about these markers. In this article, we have made an honest attempt to examine all the available literature in relation to the impact of BNP and proBNP on cardiovascular disease and present it to the reader in an assimilated fashion.

Cytogenetic abnormalities and clinical correlations in peripheral T-cell lymphoma.

Cytogenetic correlations among most types of peripheral T-cell lymphoma (PTCL) have not been very informative to date. This study aimed to identify recurrent chromosomal abnormalities in angioimmunoblastic T-cell lymphoma (AITL), ALK-negative anaplastic large cell lymphoma (ALK-ALCL) and peripheral T-cell lymphoma, unspecified (PTCL-US), and to evaluate their prognostic value. We reviewed the cytogenetic findings of 90 previously-diagnosed cases of PTCL and correlated the cytogenetic findings with the specific histological subtype.

Kimura disease with proliferative squamous metaplasia: an unusual finding and a potential diagnostic pitfall.

Kimura disease is a rare form of chronic inflammatory disorder involving subcutaneous tissue, predominantly in the head and neck region and frequently associated with regional lymphadenopathy and/or salivary gland involvement. We present a case of Kimura disease in a 28-year-old male which showed florid squamous metaplasia in the salivary gland ducts and salivary duct inclusions in the intraparotid nodes besides the usual features of Kimura disease. The squamous metaplasia was extensive enough to pose a diagnostic dilemma.

Comparison and co-relation of invasive and noninvasive methods of ejection fraction measurement.

Background: Accurate estimation of left ventricular ejection fraction (LVEF) has assumed great significance in the era of automatic implantable cardioverter defibrillators (AICDs), and a low EF may be one of the sole deciding factor in determining AICD implantation in certain patient populations.

Aim: There are various methods, invasive and noninvasive, which can help calculate EF. We sought to conduct a retrospective study comparing EF estimation by invasive (angiography) and noninvasive methods [MUGA (multiple-gated acquisition), echocardiography (echo), single-photon emission computed tomography (SPECT)] in 5,558 patients in our hospital from 1995-2004.

Clear cell sarcoma of the kidney--a study of seven cases over a period of three years.

Unlabelled: Clear cell sarcoma of the kidney (CCSK) can display diverse morphological patterns and mimic various other pediatric renal tumors. An accurate diagnosis of this tumour is important considering the therapeutic and prognostic implications.

Aim: The present study was undertaken to describe the various histological patterns of CCSK.

Mutations in the DNA-binding codons of TP53, which are associated with decreased expression of TRAILreceptor-2, predict for poor survival in diffuse large B-cell lymphoma.

Mutations of the TP53 tumor suppressor gene have been associated with poor survival in some series of diffuse large B-cell lymphoma (DLBCL) but not in other studies. The purpose of this study was to identify the frequency of TP53 alterations (mutations or deletions), characterize the gene expression of mutant/deleted cases, and determine the effects of mutations on survival. In a series of DLBCL that had previous gene expression profiling, we identified 24 mutations in 113 cases (21%).

Molecular basis of aggressive disease in chronic lymphocytic leukemia patients with 11q deletion and trisomy 12 chromosomal abnormalities.

In B-cell chronic lymphocytic leukemia (CLL), Rai stage, immunoglobulin gene mutational status, chromosomal abnormalities, CD38 and ZAP-70 expression were used as prognostic markers. In this study, to understand the molecular basis of chromosomal abnormalities leading to tumor progression, 90 CLL patients were grouped into poor prognosis (with 11q deletion and trisomy 12) and good prognosis (with normal karyotype and 13q deletion) and their clinical outcome was assessed. Gene expression profiles of 35 CLL samples with poor outcome (11q deletion, n=9; trisomy 12, n=5) and good outcome (13q deletion, n=13; normal karyotype, n=8) were analyzed using oligonucleotide microarray.

Distinctive patterns of BCL6 molecular alterations and their functional consequences in different subgroups of diffuse large B-cell lymphoma.

Gene expression profiling of diffuse large B-cell lymphoma (DLBCL) has revealed biologically and prognostically distinct subgroups: germinal center B-cell-like (GCB), activated B-cell-like (ABC) and primary mediastinal (PM) DLBCL. The BCL6 gene is often translocated and/or mutated in DLBCL. Therefore, we examined the BCL6 molecular alterations in these DLBCL subgroups, and their impact on BCL6 expression and BCL6 target gene repression.

Reconstruction of iliac crest with rib to prevent donor site complications: A prospective study of 26 cases.

Background: The tricortical bone graft from the iliac crest are used to reconstruct the post corpectomy spinal defects. The donor iliac area defect is large and may give rise to pain at donor site, instability of pelvis, fracture of ilium, donor site muscle herniation or abdominal content herniation. Rib removed during thoracotomy was used by us to reconstruct the iliac crest defect.

Distinct regional and subcellular localization of adenylyl cyclases type 1 and 8 in mouse brain.

Adenylyl cyclases (ACs) convert ATP to cAMP and therefore, subserve multiple regulatory functions in the nervous system. AC1 and AC8 are the only cyclases stimulated by calcium and calmodulin, making them uniquely poised to regulate neuronal development and neuronal processes such as learning and memory. Here, we detail the production and application of a novel antibody against mouse AC1.

Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances.

Five decades ago, Tijo and Levan (1956) first recognized the correct chromosome number in man to be 46. Shortly thereafter, several chromosome aneuploid syndromes were identified. In the early 1970s, various chromosomal-banding techniques were developed that allowed the recognition of individual chromosomes and deletions and duplications as etiologies for numerous chromosome syndromes.

Cigarette smoking, familial hematopoietic cancer, hair dye use, and risk of t(14;18)-defined subtypes of non-Hodgkin's lymphoma.

Some evidence suggests that smoking, a family history of hematopoietic cancer, and use of hair dyes are associated with t(14;18)-defined subsets of non-Hodgkin's lymphoma (NHL) in men. To further evaluate these associations and to expand them to women, the authors determined t(14;18)(q32;q21) status by fluorescence in situ hybridization in 172 of 175 tumor blocks from a population-based case-control study conducted in Nebraska during 1983-1986. Exposures in 65 t(14;18)-positive cases and 107 t(14;18)-negative cases were compared with those among 1,432 controls.

Platelet reactivity in patients with subacute stent thrombosis compared with non-stent-related acute myocardial infarction.

Background: Recent case control studies suggest that patients with subacute stent thrombosis (SAT) have increased platelet reactivity. However, SAT often presents as acute myocardial infarction (AMI), which is also associated with augmented platelet activation. We therefore compared platelet reactivity in patients with SAT and patients with AMI unrelated to stenting.

Overview of genetics and role of the pediatric physical therapist in the diagnostic process.

Purpose: The purpose of this report is to enhance awareness about the pathogenesis of various genetic diseases and syndromes that physical therapists frequently encounter. The intent is to summarize various aspects of genetic diseases and how they relate to the role of the physical therapist.

Summary Of Key Points: Specifically, the origination and development of some of the genetic diseases physical therapists are likely to encounter are discussed, as are resources available to physical therapists and other professionals for further understanding specific genetic diseases.

Externally tunable dynamic confinement effect in organosilica sol-gels.

The feasibility of using the pores of organosilica sol-gels for dynamic confinement of a luminescent molecule is demonstrated in this paper. The porous organosilica sol-gels act as reversible thermoresponsive materials which exhibit reduced pore volume at higher temperature and enlarged pores at lower temperature, which causes dynamic alterations in the nanoenvironment of encapsulated entities. A particularly remarkable feature of this system is that the temperature-dependent confinement effect provided by the gels is reversible and can be efficiently modulated by simply changing the temperature.

Chemical characterization and quantification of siderophores produced by marine and terrestrial aspergilli.

Ten aspergilli (five each from marine and terrestrial habitats) were screened for siderophore production. All test isolates produced siderophores as indicated by a positive reaction in the FeCl(3) test, chrome azurol sulphonate assay, and chrome azurol sulphonate agar plate test. Further, the test isolates were compared for their siderophore production potential and chemical characteristics.

Molecular diagnosis of Burkitt's lymphoma.

Background: The distinction between Burkitt's lymphoma and diffuse large-B-cell lymphoma is crucial because these two types of lymphoma require different treatments. We examined whether gene-expression profiling could reliably distinguish Burkitt's lymphoma from diffuse large-B-cell lymphoma.

Methods: Tumor-biopsy specimens from 303 patients with aggressive lymphomas were profiled for gene expression and were also classified according to morphology, immunohistochemistry, and detection of the t(8;14) c-myc translocation.

Neonatal hypothyroidism alters the kinetic properties of Na+, K+-ATPase in synaptic plasma membranes from rat brain.

Neonatal hypothyroidism was induced in rat pups by injecting 131I within two days of birth and the effects on kinetic properties of Na+, K+-ATPase from synaptic plasma membranes were examined. Neonatal hypothyroidism resulted in a generalized decrease in V(max) with ATP, Na+, K+ and Mg2+ together with an increase in the K(m) for ATP, appearance of a low affinity component for Na+ and allosteric characteristic for the Mg2+-dependent activity at high Mg2+ concentrations. Binding pattern for Na+ and Mg2+ changed.