Tau identification at D0

We describe methods to identify {tau} leptons produced in high energy p{bar p} collisions ({radical}s = 1.96 GeV) at the Tevatron, using the D0 detector. Different procedures used for discrimination against background particles misidentified as taus are also discussed. Finally, we present some physics results obtained by applying these methods to illustrate their performance

The lived experience of being an adoptee

Adoption can initiate many sentiments. Notable differences between adopted and nonadopted children are clearly indicated in research. Because limited research looks at the gradual development of the adoptee, this research looked at the lived experiences of Maltese adoptees and their coping mechanisms. Following Smith and Osborn (2015) guide on interpretative phenomenological approach, six participants shared their experiences in semi-structured interviews conducted remotely. Four superordinate themes and ten subordinate themes emerged from the data analysis. Findings showed unique ways by adoptees to accept the often challenging reality of the adoption process. Resilience was clearly what led adoptees moving on with life. Society and related bodies are therefore called to avail professional services to assist adoptees in their coping of a painful past.peer-reviewe

Prevalence of 35delG mutation in GJB2 gene in the Moldovan population

Laboratory of Genetics, Center for Drug Research, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, the Republic of Moldova, Grigore T. Popa University of Medicine and Pharmacy, Iasi, Romania. The 75th anniversary of Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova (1945-2020)Background: Guanine deletion 35delG in GJB2 exon 2 is the pathogenic mutation responsible for up to 70% of cases of congenital non-syndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss nature has become important while considering the cochlear implants. The purpose of this study was to establish the frequency of 35delG deletion in GJB2 gene among patients with severe NSHL and its prevalence among Moldovan residents with normal hearing. Material and methods: 40 patients with congenital bilateral profound NSHL and 300 individuals with normal hearing were examined for deletion 35delG, by using Custom TaqMan SNP genotyping Assay. Results: 12 (30%) patients with homozygous genotype for 35delG mutation were identified, whereas 8 patients (20%) were heterozygous. The study reported 4 (1.33%) carriers of 35delG mutation among 300 Moldovan individuals with normal hearing. Conclusions: The present study results suggest a need for including the 35delG molecular testing into the national program of neonatal screening of hearing loss. Considerations on the genetic carrier testing should be made in genetic counseling and family planning

Removal of cardiac AL-amyloid with positive remodeling of cardiomyocytes and of restrictive cardiomyopathy

Herein, we describe histological mobilization of light chain cardiac amyloid documented by sequential left ventricular endomyocardial biopsies. These findings were associated with positive remodelling of cardiomyocytes and of restrictive cardiomyopathy resulting from 14 courses of chemotherapy over 17 years of time. Histological and ultrastructural findings of light chain cardiac amyloid removal led to increase in cardiomyocyte dimension and electrocardiogram voltages, reduction of biventricular wall thickness with improvement of left ventricular diastolic function, and NYHA class shifting from III to I

False-positive bone scintigraphy denoting transthyretin amyloid in elderly hypertrophic cardiomyopathy

A positive nuclear scintigraphy with hydroxy bisphosphonate bone tracer (99mTc-HPD) is believed to have high sensitivity (>99%) and specificity (91%) for the diagnosis of transthyretin amyloid cardiomyopathy. We report the case of an 85-year-old man with increased thickness of ventricular walls and a positive bone scintigraphy, who was unexpectedly found to have sarcomeric hypertrophic cardiomyopathy at left ventricular endomyocardial biopsy. Congo Red staining, immunohistochemistry, and transmission electronmicroscopy on six left ventricular samples scored negative for amyloidosis but were suggestive for sarcomeric hypertrophic cardiomyopathy. Genetic study did not show TTR and most commonly involved sarcomeric genes mutations. In hypertrophic cardiomyopathy focal cell necrosis related to demand/supply oxygen mismatch, small vessels disease or inflammation could be responsible of a false-positive bone scintigraphy signal for transthyretin amyloidosis. Because of this, especially in view of a possible specific treatment, endomyocardial biopsy is highly recommended for the correct diagnosis of cardiomyopathies with hypertrophic phenotype

Infiltration of conduction tissue is a major cause of electrical instability in cardiac amyloidosis

Abstract: Background: Pathology of conduction tissue (CT) and relative arrhythmias in living subjects with cardiac amyloid have never been reported. Aims: Reporting CT pathology and its arrhythmic correlations in human cardiac amyloidosis. Methods and Results: In 17 out of 45 cardiac amyloid patients, a left ventricular endomyocardial biopsy included conduction tissue sections. It was identified by Aschoff-Monckeberg histologic criteria and positive immunostaining for HCN4. The degree of conduction tissue infiltration was defined as mild when ≤ 30%, moderate when 30-70% and severe when > 70% cell area was replaced. Conduction tissue infiltration was correlated with ventricular arrhythmias, maximal wall thickness and type of amyloid protein. Mild involvement was observed in 5 cases, moderate in 3 and severe in 9. Involvement was associated with a parallel infiltration of conduction tissue artery. Conduction infiltration correlated with severity of arrhythmias (Spearman rho=0.8, p <0.001). In particular, major ventricular tachyarrhythmias requiring pharmacologic treatment or ICD implantation occurred in 7 patients with severe, 1 patient with moderate and none with mild conduction tissue infiltration. Pacemaker implantation was required in 3 patients with complete conduction section replacement. No significant correlation was observed between the degree of conduction infiltration and age, cardiac wall thickness or type of amyloid protein. Conclusion: Amyloid-associated cardiac arrhythmias correlate with extent of conduction tissue infiltration. Its involvement is independent from type and severity of amyloidosis, suggesting a variable affinity of amyloid protein to conduction tissue

Multi-view 3D data acquisition using a single uncoded light pattern

This work is part of the project ’3D-Head’ funded by the Malta Council for Science and Technology under Research Grant No. RTDI-2004-034.This research concerns the acquisition of 3-dimensional data from images for the purpose of modeling a person's head. This paper proposes an approach for acquiring the 3-dimensional reconstruction using a multiple stereo camera vision platform and a combination of passive and active lighting techniques. The proposed one-shot active lighting method projects a single, binary dot pattern, hence ensuring the suitability of the method to reconstruct dynamic scenes. Contrary to the conventional spatial neighborhood coding techniques, this approach matches corresponding spots between image pairs by exploiting solely the redundant data available in the multiple camera images. This produces an initial, sparse reconstruction, which is then used to guide a passive lighting technique to obtain a dense 3-dimensional representation of the object of interest. The results obtained reveal the robustness of the projected pattern and the spot matching algorithm, and a decrease in the number of false matches in the 3-dimensional dense reconstructions, particularly in smooth and textureless regions on the human face.peer-reviewe

Myocarditis-associated necrotizing coronary vasculitis: incidence, cause, and outcome

Aims : Necrotizing coronary vasculitis (NCV) is a rare entity usually associated to myocarditis which incidence, cause, and response to therapy is unreported. Methods and results : Among 1916 patients with biopsy-proven myocarditis, 30 had NCV. Endomyocardial samples were retrospectively investigated with immunohistochemistry for toll-like receptor 4 (TLR4) and real-time polymerase chain reaction (PCR) for viral genomes. Serum samples were processed for anti-heart autoantibodies (Abs), IL-1β, IL-6, IL-8, tumour necrosis factor (TNF)-α. Identification of an immunologic pathway (including virus-negativity, TLR4-, and Ab-positivity) was followed by immunosuppression. Myocarditis-NCV cohort was followed for 6 months with 2D-echo and/or cardiac magnetic resonance and compared with 60 Myocarditis patients and 30 controls. Increase in left ventricular ejection fraction ≥10% was classified as response to therapy. Control endomyocardial biopsy followed the end of treatment. Twenty-six Myocarditis-NCV patients presented with heart failure; four with electrical instability. Cause of Myocarditis-NCV included infectious agents (10%) and immune-mediated causes (chest trauma 3%; drug hypersensitivity 7%; hypereosinophilic syndrome 3%; primary autoimmune diseases 33%, idiopathic 44%). Abs were positive in immune-mediated Myocarditis-NCV and virus-negative Myocarditis; Myocarditis-NCV patients with Ab+ presented autoreactivity in vessel walls. Toll-like receptor 4 was overexpressed in immune-mediated forms and poorly detectable in viral. Interleukin-1β was significantly higher in Myocarditis-NCV than Myocarditis, the former presenting 24% in-hospital mortality compared with 1.5% of Myocarditis cohort. Immunosuppression induced improvement of cardiac function in 88% of Myocarditis-NCV and 86% of virus-negative Myocarditis patients. Conclusion : Necrotizing coronary vasculitis is histologically detectable in 1.5% of Myocarditis. Necrotizing coronary vasculitis includes viral and immune-mediated causes. Intra-hospital mortality is 24%. The immunologic pathway is associated with beneficial response to immunosuppression

Variația genetică a genei SCN10A în populația tânără din Republica Moldova

Background. PR interval reflects atrial and atrioventricular nodal conduction time, and is an important determinant of arrhythmia risk. Genome-wide association studies (GWAS) have identified association of a nonsynonymous SNP, rs6795970, in the SCN10A gene with PR interval in individuals of European ancestry. Objective of the study. Determine distribution of the genetic variants of rs6795970, associated with PR interval in young population of Republic of Moldova. Material and Methods. 1390 young participants from Republic of Moldova with age range: 19-25 years, were genotyped for rs6795970 in the SCN10A gene, using TaqMan SNP Genotyping Assay. Results. The genotype A/A, A/G, G/G distributions of rs6795970 among the young participants were 15%, 48%, 37% respectively (χ2 = 0.161, p = 0.688). The allele frequencies for A and G in young participants were 39% and 61% respectively. Conclusion. The minor allele frequency (MAF) in young Moldavian population was 0.39 for rs6795970 and was consistent with Project 1000Genomes data in the European population – 0.41. The risk allele (A allele) is associated with a predisposition to appear of arrhythmias. Introducere. Intervalul PR reflectă timpul de conducere nodală atrială și atrioventriculară și este un predictor important al riscului de aritmie. Prin studiile de tip GWAS a fost identificată asocierea SNPului rs6795970, nonsinonim, al genei SCN10A, cu intervalul PR la indivizii din populația europeană. Scopul lucrării. Determinarea distribuției variantei genetice a polimorfismului rs6795970 asociat cu intervalul PR în populația tânără din Republica Moldova. Material și Metode. Genotiparea polimorfismului rs6795970 al genei SCN10A la 1390 de participanți tineri din Republica Moldova, cu vârste cuprinse între 19-25 de ani, s-a efectuat prin tehnica TaqMan SNP Genotyping Assay. Rezultate. S-a stabilit că distribuțiile genotipurilor A/A, A/G, G/G pentru rs6795970 între participanți tineri au fost 15%, 48% și, respectiv, 37% (χ2 = 0,161, p = 0,688). Frecvența alelei A a fost de 39%, iar a alelei majore G de 61%. Concluzii. Frecvența de 0,39 a alelei minore (MAF) în populația tânără din Republica Moldova, pentru rs6795970 este în concordanță cu datele Proiectului 1000Genomes pentru populația europeană – 0,41, ceea ce indică că alela A (alela de risc) este asociată cu predispoziția la apariția aritmiilo

Genetic variation of the SCN10A gene in young population of Republic of Moldova

Laboratory of genetics, State University of Medicine and Pharmacy "Nicolae Testemiteanu" Chișinău, Republic of Moldova, Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltareIntroduction: The electrocardiogram (ECG) is a valuable clinical tool for assessing the function of the cardiac conduction system. The electrocardiographic PR interval represents conduction through the atria and atrioventricular (AV) node to the Purkinje fibers. Delayed conduction in the above parts of the cardiac conduction system, results in prolongation of this ECG parameter. Prolongation of the PR interval leads to increased risk of atrial fibrillation, heart block, and mortality. The duration of the PR interval has an important heritable component, with heritability estimates ranging up to 50% in populations of European and Asian ancestry . Genome-Wide Association studies (GWAS) have identified a common loci associated with PR interval duration. The strongest association was observed between nonsynonymous single nucleotide polymorphism, rs6795970 (G > A), in the SCN10A gene and the PR interval . The SCN10A gene is mapped to chromosome 3p22.2 and encodes the alpha subunit, type X, of a voltage-gated sodium channel. The SCN10A gene is expressed in the dorsal root ganglion (DRG), nociceptive nerve fibers, retina, in the myocardium and preferentially in the Purkinje fibers of the cardiac conduction system. The allele A of the SCN10A gene polymorphism (rs6795970) was associated with increased risk of first-degree heart block, bundle-branch block, bifascicular heart block, idiopathic sick sinus syndrome [1-5]. Purpose. Determine distribution of the genetic variants of rs6795970, associated with PR interval in young population of Republic of Moldova. Material and methods: 1390 students from Nicolae Testemitsanu State University of Medicine and Pharmacy, aged between 19-25 years, enrolled in our cross-sectional study. Written informed consent was obtained from all the participants. Personal identifiers associated with medical information and blood samples were encrypted with a special codification and then analyzed. The study was approved by the Nicolae Testemitsanu SUMPh Research Ethics Committee. Genomic DNA was isolated from buffy coat using silica-based membrane technology in the form of a spin column Gene JET Genomic DNA Purification Kit (Thermo Scientific, USA) according to the manufacturer’s protocol. Genotype analysis of all 1390 participants to detect rs6795970 (G > A) in the SCN10A gene was performed with commercially available TaqMan assay kit (Assay ID: C__29261054_10) on a QuantStudio 6 Flex instrument (Thermo Fisher Scientific). The differences of genotype frequencies of the rs6795970 have been analyzed by the chi-square Test (χ2), also used to test deviations of genotype distribution from the Hardy-Weinberg equilibrium. Results: Out of 1390 samples, the genotyping successful call rate was 99.7%. The validity of the genotyping results is in concordance with the allele frequency distribution predicted by Hardy-Weinberg equilibrium for rs6795970 (χ2 = 0.161, p = 0.688). The distribution of genotypes and allele frequencies of the rs6795970 in the sample tested is shown in table 1. Conclusions: In this study, we determined that distribution of the genetic variants of rs6795970, associated with PR interval in young population of Republic of Moldova was consistent with 1000 Genomes data in the European population. Thus, our data demonstrate that at least 15% of all participants (the AA genotype), may have an increased risk of conduction abnormalities