Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Constitutional ring chromosomes can be found for all human chromosomes and are very rare chromosomal abnormalities. A complete ring chromosome without loss of genetic material results from fusion of subtelomeric regions or telomere-telomere fusion. In cases of complete ring chromosome, an increased incidence of severe growth failure with no or only minor anomalies has been observed and attributed to ring syndrome.

Analytical evaluation of a real-time PCR-based DNA demethylation assay to assess the frequency of naturally occurring regulatory T cells in peripheral blood.

Objectives: Regulatory T cells (Tregs) which may indicate operational tolerance provide a promising biomarker for individualization of immunosuppression. Naturally thymus-derived Tregs (nTregs) represent the major suppressive phenotype and can be identified by their demethylation status in the Tregs Specific Demethylated Region (TSDR) of the Forkhead-Box-P3 (FOXP3) gene using quantitative PCR (qPCR).

Design And Methods: The analytical performance of a TSDR demethylation qPCR assay was assessed in whole blood of healthy individuals (HI) and kidney transplant recipients (KTR).

Acetaldehyde removal using an atmospheric non-thermal plasma combined with a packed bed: role of the adsorption process.

This work is an attempt in order to help towards understanding the influence of the adsorption process on the removal of a VOC (acetaldehyde, CH3CHO) using cyclic non thermal plasma (NTP) combined with a packed-bed of a catalyst support, α-Al2O3. In the first part, the results obtained by placing the saturated alumina pellets inside the plasma discharge zone are discussed, in terms of acetaldehyde removal, CO and CO2 production. In the second part, adsorption of CH3CHO, CO, CO2 and O3 was carried out, from single and multicomponent mixtures of the different compounds.

Total and free plasma concentrations of the active metabolite of leflunomide in relation to therapeutic outcome in kidney transplant recipients with BK-virus nephropathy.

Plasma concentrations of A771726, the active moiety of leflunomide, have been suggested to be associated with antiviral efficacy and/or an increased risk of toxicity. A771726 is >99% bound to serum albumin, which can be relevant in kidney transplant recipients (KTRs) displaying impaired function, which leads to increased pharmacologically active free drug concentrations. This study investigated the relationship of total (t-) and free (f-) A771726 concentrations with clinical outcomes.

CD26/dipeptidyl peptidase IV: a comparative study of healthy persons and kidney transplant recipients before and early after transplantation.

Objectives: Human CD26 is co-stimulatory for lymphocytes, circulates in a soluble form in blood (sCD26), and has intrinsic dipeptidyl peptidase IV (DPPIV) activity. Associations between CD26 expression on the surface of T cells (CD26+/CD3+) and acute rejection and between (CD26+/CD3+)/DPPIV and clinical immunosuppression have been reported. These results encouraged the investigation of CD26 as a potential biomarker to optimize immunosuppressive therapy.

Association between adverse effects under azathioprine therapy and inosine triphosphate pyrophosphatase activity in patients with chronic inflammatory bowel disease.

Background: Inosine triphosphate pyrophosphatase (ITPA) catalyzes the pyrophosphohydrolysis of inosine triphosphate to inosine monophosphate. Recently, single-nucleotide polymorphisms in the ITPA gene, associated with decreased enzyme activity, have been reported. Some clinical studies have demonstrated that the 94C>A mutation is linked to flu-like symptoms, rash, and pancreatitis during azathioprine (AZA) therapy and to early AZA discontinuation.

Association between pharmacodynamic biomarkers and clinical events in the early phase after kidney transplantation: a single-center pilot study.

Introduction: Strategies based on monitoring pharmacodynamic effects are increasingly evaluated to individualize immunosuppressive therapy. In the present investigation, both drug-specific and general pharmacodynamic biomarkers were assessed and their association with clinical events early after kidney transplantation was examined.

Methods: Thirty-five de novo kidney transplant patients receiving basiliximab, enteric-coated mycophenolate sodium (2×720 mg/day), steroids, and tacrolimus (target: 6-8 μg/L) were included.

Simultaneous quantification and genotyping of hepatitis C virus RNA by a two-step real-time PCR assay on the lightcycler instrument.

Background: Clinically, both viral load and genotypes have been found to be major predictors of antiviral therapy outcome regarding chronic hepatitis C and they are, under normal circumstances, performed as separate assays.

Design And Methods: In order to improve the diagnostic strategy and subsequently reduce the reagent costs we have developed and established the simultaneous quantification and genotyping of hepatitis C virus RNA by a two-step real-time PCR on the LightCycler Instrument (Roche Diagnostics).

Results: The quantification assay was calibrated against WHO Standard 96/790.

Expression profile of several genes in human myometrium and uterine leiomyoma.

Objective: To screen several genes that are differentially expressed in uterine leiomyoma and matched unaffected myometrium by using microarray-based hybridization and real-time polymerase chain reaction analyses.

Design: Screen by arrays for < or =2,400 known genes in leiomyoma and control myometrium.

Setting: University clinical research laboratory.

Antisense oligodeoxynucleotides directed against a novel angiotensinogen mRNA-stabilizing protein reduce blood pressure in spontaneously hypertensive rats.

We have previously reported that hypertension in the young spontaneously hypertensive rat (SHR) is associated with an elevation in tissue angiotensinogen and a novel polysomal protein known to stabilize angiotensinogen mRNA. In our current study we determined the role of the mRNA-stabilizing protein in the regulation of tissue angiotensinogen expression and mean arterial pressure (MAP) in the SHR utilizing antisense oligodeoxynucleotide (AON) inhibition. Three AONs (RNASTAAS1, position 31-50; RNASTAAS2, position 21-40; RNASTAAS3, position 143-162 of the cDNA coding for the polysomal protein) were administered intravenously (dose 450, 900, and 1,800 microg/kg; 1 dosage/day over 3 days) in conscious, chronically instrumented male SHRs at the age of 7 wk.

Physiological elevation in plasma angiotensinogen increases blood pressure.

Hepatic angiotensinogen secretion is controlled by a complex pattern of physiological or pathophysiological mediators. Because plasma concentrations of angiotensinogen are close to the Michaelis-Menten constant, it was hypothesized that changes in circulating angiotensinogen affect the formation rate of ANG I and ANG II and, therefore, blood pressure. To further test this hypothesis, we injected purified rat angiotensinogen intravenously in Sprague-Dawley rats via the femoral vein and measured mean arterial blood pressure after arterial catheterization.

Role of calcium channels in oxyhemoglobin-induced apoptosis in endothelial cells.

Object: Oxyhemoglobin (OxyHb) released from hemolysed erythrocytes has been considered to be responsible for cerebral vasospasm after subarachnoid hemorrhage. The authors previously reported that OxyHb produced apoptosis in cultured vascular endothelial cells. The change in intracellular Ca++ homeostasis was expected to be one of the possible mechanisms of the cytotoxic effects of OxyHb.

Preliminary comparison of papanicolaou smear and speculoscopy for assessing cervical cancer precursor lesions in pregnant adolescents.

Background: The objective of this study was to assess the efficacy of speculoscopy in screening pregnant adolescents for abnormal cervical pathology.

Methods: This was a prospective comparative study of the Papanicolaou smear and speculoscopy in pregnant adolescents (< 17 years of age at the time of examination) presenting for their initial obstetric visits. This study was conducted at private offices of a general obstetrics and gynecology academic practice.

ZOO-FISH analysis in a species of the order Chiroptera: Glossophaga soricina (Phyllostomidae).

Glossophaga soricina is a flower-visiting bat which lives in the neotropics. The diploid chromosome number is 2n = 32 with a fundamental number of autosomal arms, FN, of 60. G.

Identification and characterization of the rat M1 muscarinic receptor promoter.

Five subtypes of the muscarinic receptor have been cloned from both the rat and human genomes. Although all five genes have the coding sequences in a single exon, their structures 5' of the initiation codon are largely uncharacterized, except for the M4 receptor. In the brain, muscarinic receptors mediate motor and memory function by interaction with their ligand acetylcholine.

ZOO-FISH analysis in insectivores: "Evolution extols the virtue of the status quo".

In evolutionary terms, insectivores are thought to be close to primates. Through ZOO-FISH analysis using human chromosome-specific painting probes, the syntenic relationship between the human and common shrew, Sorex araneus, karyotypes was studied. The human karyotype was found to be conserved in the shrew, with 32 autosomal segments of common synteny.

Molecular cloning of the porcine beta-1,2-N-acetylglucosaminyltransferase II gene and assignment to chromosome 1q23-q27.

Glycosyltransferases play an important role in the synthesis of glycoproteins. Here we report the isolation of a brain cDNA coding for 89% of the porcine UDP-N-acetylglucosamine:alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminy ltransferase II (EC 2.4.

Zoo-FISH analysis: the American mink (Mustela vison) closely resembles the cat karyotype.

The 24 human chromosome-specific DNA probes were used to visualize segments of conserved synteny on metaphase chromosomes of the American mink (Mustela vison). A comparison with the hitherto known gene mapping data shows a high degree of correspondence. The human chromosomes were found conserved in only 34 segments of common synteny.

Hereditary disorders of connective tissue: a review.

Extracellular matrix is a very complex assemblage of specialized molecules including collagen, elastin, proteoglycans, and attachment glycoproteins such as fibronectin and laminin. Collagen is an unusual protein because it requires multiple processing steps both within and outside the cell beginning with transcription and refinement of its messenger RNA, translation of the mature mRNA, extensive post-translational modifications, and further alterations in the extracellular compartments. If errors are made at any one of the multiple steps in this complex pathway, a defective molecule will be formed that could result in connective tissue abnormalities.

Angiotensinogen messenger RNA stabilization by angiotensin II.

Objective: To further characterize the molecular mechanism whereby angiotensin II stabilizes the angiotensinogen messenger (m)RNA through binding studies of the previously isolated polysomal stabilizing protein to partial and mutagenized sequences of the 3' untranslated region of the gene and to explore its importance to rodent genetic hypertension.

Design: Analysis of angiotensinogen mRNA mutants for half-life and binding to a polysomal protein with a molecular weight of 12000.

Methods: Protein/RNA interactions were determined in band shift assays employing radiolabelled 3' untranslated region of angiotensinogen mRNA.

A controlled trial comparing buprenorphine and methadone maintenance in opioid dependence.

Background: Buprenorphine is a partial agonist at the mu-opioid receptor that has been proposed as an alternative to traditional full agonist maintenance therapy for the treatment of opioid addiction. We report on a clinical trial in which the relative safety and efficacy of long-term fixed-dose buprenorphine maintenance was examined in comparison to low- and high-dose methadone maintenance.

Methods: Two hundred twenty-five treatment-seeking opioid addicts (46 women, 179 men) were randomly assigned to receive, in a double-blind manner, either 8 mg/d of buprenorphine, 30 mg/d of methadone, or 80 mg/d of methadone maintenance over a 1-year period.