keyword
https://read.qxmd.com/read/37726421/-newborn-screening-for-severe-combined-immunodeficiencies-scid-in-germany
#21
REVIEW
Sujal Ghosh, Michael H Albert, Fabian Hauck, Manfred Hönig, Catharina Schütz, Ansgar Schulz, Carsten Speckmann
Patients with a severe combined immunodeficiency (SCID) harbor genetic mutations disrupting T cell immunity and hence suffer severe, life-threatening infections or manifestations of immune dysregulation within the first months of their life. The only cure is to correct their immune system, usually by means of hematopoietic stem cell transplantation (HSCT). Pilot studies and national programs in the United States and in European countries have shown that patients can be identified at an early asymptomatic stage through newborn screening...
September 19, 2023: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://read.qxmd.com/read/37723211/importance-of-trec-and-krec-as-molecular-markers-for-immunological-evaluation-of-down-syndrome-children
#22
JOURNAL ARTICLE
Eman Eissa, Hanan H Afifi, Assem M Abo-Shanab, Manal M Thomas, Mohamed B Taher, Rania Kandil, Naglaa M Kholoussi
Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) as molecular markers for immunological investigation of children with DS. The study included 40 non-disjunction trisomy 21 confirmed DS children, and 25 healthy controls. Peripheral blood (PB) was analyzed for lymphocyte subpopulations by flow cytometry, serum immunoglobulin levels, and TREC and KREC copy numbers using quantitative real-time PCR...
September 18, 2023: Scientific Reports
https://read.qxmd.com/read/37711122/pilot-study-on-newborn-screening-for-spinal-muscular-atrophy
#23
JOURNAL ARTICLE
Helena Fonseca, Diogo Ribeiro, Fabio Guimarães, Conceição Pinto, Ana Marcão, Carmen Sousa, Ivone Carvalho, Lurdes Lopes, Diogo Rodrigues, Hugo Rocha, Laura Vilarinho
INTRODUCTION: Newborn screening (NBS) in Portugal is a significant public health measure to provide early detection for specific disorders so that early treatment is possible. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. Its incidence is estimated in 1.6000-11.800 live births. A pilot study on 100.000 newborns is being carried out at the neonatal screening laboratory with the aim of determining the specificity, sensitivity, and feasibility of the SMA screening at the NBS laboratory in Portugal...
September 14, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
https://read.qxmd.com/read/37707504/newborn-screening-for-severe-combined-immunodeficiency-and-inborn-errors-of-immunity
#24
JOURNAL ARTICLE
Atar Lev, Raz Somech, Ido Somekh
PURPOSE OF REVIEW: Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants. RECENT FINDINGS: SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards...
September 15, 2023: Current Opinion in Pediatrics
https://read.qxmd.com/read/37687869/adaptation-of-an-iram-w-band-sis-receiver-to-the-inaf-sardinia-radio-telescope-a-feasibility-study-and-preliminary-tests
#25
JOURNAL ARTICLE
Adelaide Ladu, Luca Schirru, Pierluigi Ortu, Andrea Saba, Mauro Pili, Alessandro Navarrini, Francesco Gaudiomonte, Pasqualino Marongiu, Tonino Pisanu
Radio telescopes are used by astronomers to observe the naturally occurring radio waves generated by planets, interstellar molecular clouds, galaxies, and other cosmic objects. These telescopes are equipped with radio receivers that cover a portion of the radio frequency (RF) and millimetre-wave spectra. The Sardinia Radio Telescope (SRT) is an Italian instrument designed to operate between 300 MHz and 116 GHz. Currently, the SRT maximum observational frequency is 26.5 GHz. A feasibility study and preliminary tests were performed with the goal of equipping the SRT with a W-band (84-116 GHz) mono-feed radio receiver, whose results are presented in this paper...
August 25, 2023: Sensors
https://read.qxmd.com/read/37653480/complete-fatty-degeneration-of-thymus-associates-with-male-sex-obesity-and-loss-of-circulating-na%C3%A3-ve-cd8-t-cells-in-a-swedish-middle-aged-population
#26
JOURNAL ARTICLE
Mårten Sandstedt, Rosanna W S Chung, Camilla Skoglund, Anna K Lundberg, Carl Johan Östgren, Jan Ernerudh, Lena Jonasson
BACKGROUND: Fatty degeneration of thymus (or thymus involution) has long been considered a normal ageing process. However, there is emerging evidence that thymic involution is linked to T cell aging, chronic inflammation and increased morbidity. Other factors, aside from chronological age, have been proposed to affect the involution rate. In the present study, we investigated the imaging characteristics of thymus on computed tomography (CT) in a Swedish middle-aged population. The major aims were to establish the prevalence of fatty degeneration of thymus and to determine its associations with demographic, lifestyle and clinical factors, as well as inflammation, T cell differentiation and thymic output...
August 31, 2023: Immunity & Ageing: I & A
https://read.qxmd.com/read/37599592/efficient-screening-strategies-for-severe-combined-immunodeficiencies-in-newborns
#27
REVIEW
Maartje Blom, Robbert G M Bredius, Miriam van der Burg
INTRODUCTION: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS)...
August 21, 2023: Expert Review of Molecular Diagnostics
https://read.qxmd.com/read/37579546/clinical-relevance-of-thymic-and-bone-marrow-outputs-in-multiple-sclerosis-patients-treated-with-alemtuzumab
#28
JOURNAL ARTICLE
Alessandra Sottini, Virginia Quaresima, Mosè Barbaro, Lucia Moiola, Massimo Filippi, Maria Malentacchi, Marco Capobianco, Marco Puthenparampil, Paolo Gallo, Eleonora Cocco, Jessica Frau, Mauro Zaffaroni, Clara Guaschino, Chiara Stampatori, Chiara Mancinelli, Laura Brambilla, Valentina Torri Clerici, Marika Vianello, Francesca Vitetta, Diana Ferraro, Pamela Rosettani, Maura Chiara Danni, Marta Conti, Maria Grimoldi, Ruggero Capra, Luisa Imberti
Thymic and bone marrow outputs were evaluated in 13 sequential samples of 68 multiple sclerosis patients who initiated alemtuzumab and were clinically followed for 48 months. Three months after alemtuzumab infusions, the levels of new T lymphocytes were significantly reduced, but progressively increased reaching the highest values at 36 months, indicating the remarkable capacity of thymic function recovery. Newly produced B cells exceeded baseline levels as early as 3 months after alemtuzumab initiation...
September 15, 2023: Journal of Neuroimmunology
https://read.qxmd.com/read/37573107/triple-recognition-strategy-for-one-pot-detection-of-single-nucleotide-variants-by-aligner-mediated-cleavage-triggered-exponential-amplification
#29
JOURNAL ARTICLE
Jinyan Long, Mengqi Chen, Yang Yu, Qiaomin Wu, Xiaolan Yang
The detection of single nucleotide variants (SNVs) is important for the diagnosis and treatment of cancer. To date, researchers have devised several methods to detect SNVs, but most of them are complex and time-consuming. To improve SNVs detection specificity and sensitivity, we developed a triple-recognition strategy, which facilitates aligner-mediated cleavage-triggered exponential amplification (Trec-AMC-EXPAR) for the rapid, specific, and one-pot detection of SNV. Under optimized conditions, Trec-AMC-EXPAR detected two clinically significant SNVs, PIK3CAH1047R and EGFR L858R within 80 min, with a reliable detection of 0...
October 2, 2023: Analytica Chimica Acta
https://read.qxmd.com/read/37563665/organisational-models-supported-by-technology-for-the-management-of-diabetic-disease-and-its-complications-in-a-diabetic-clinic-setting-study-protocol-for-a-randomised-controlled-trial-targeting-type-2-diabetes-individuals-with-non-ideal-glycaemic-values-telemechron
#30
JOURNAL ARTICLE
Alexia Giovanazzi, Lorenzo Gios, Marina Mastellaro, Maria Adalgisa Gentilini, Francesca Valent, Sara Condini, Giorgia Bincoletto, Alessandro Bacchiega, Andrea Zorzi, Giulia Malfatti, Francesca Perini, Claudio Eccher, Michele Marchesoni, Marlene Dall'Alda, Massimo Orrasch, Diego Conforti, Sandro Inchiostro
INTRODUCTION: Type 2 diabetes mellitus (T2DM) is a non-communicable disease representing one of the most serious public health challenges of the twenty-first century. Its incidence continues to rise in both developed and developing countries, causing the death of 1.5 million people every year. The use of technology (e.g. smartphone application-App) in the health field has progressively increased as it has been proved to be effective in helping individuals manage their long-term diseases...
August 10, 2023: Trials
https://read.qxmd.com/read/37524693/scrna-seq-revealed-the-special-tcr-%C3%AE-%C3%AE-v-d-j-allelic-inclusion-rearrangement-and-the-high-proportion-dual-or-more-tcr-expressing-cells
#31
JOURNAL ARTICLE
Lanwei Zhu, Qi Peng, Jun Li, Yingjie Wu, Jiayi Wang, Dewei Zhou, Long Ma, Xinsheng Yao
Allelic exclusion, one lymphocyte expresses one antigen receptor, is a fundamental mechanism of immunological self-tolerance and highly specific immune responses to pathogens. However, the phenomenon of V(D)J allelic inclusion (incomplete allelic exclusion or allelic escape) rearrangement and dual TCR T cells have been discovered by multiple laboratories. Despite continuous new discoveries, the proportion and underlying mechanism of dual TCR has been puzzling immunologists. In this study, we observed the presence of single T cells expressing multiple TCR chains in all samples, with the proportion of 15%, 10%, and 20% in the human thymus, human peripheral blood, and mouse lymphoid organs, respectively...
July 31, 2023: Cell Death & Disease
https://read.qxmd.com/read/37464272/evaluation-of-newly-developed-wearable-ear-canal-thermometer-mimicking-the-application-to-activities-on-sports-and-labor-fields
#32
JOURNAL ARTICLE
Issei Kato, Hironori Watanabe, Kei Nagashima
We evaluated the reliability of a newly developed wearable ear canal thermometer based on three different experiments, in which ear canal and rectal temperature (Tear and Trec , respectively) were simultaneously monitored. In Experiment 1, participants sat at 28 °C and 50% relative humidity (RH), during which fanning or 41 °C lower legs water immersion was conducted. In Experiment 2, participants conducted a 70-min treadmill exercise (4 km/h, 0.5% slope) at 35 °C and 50% RH with intermittent fanning...
July 18, 2023: Journal of Physiological Sciences: JPS
https://read.qxmd.com/read/37451494/effective-matching-of-patients-to-clinical-trials-using-entity-extraction-and-neural-re-ranking
#33
JOURNAL ARTICLE
Wojciech Kusa, Óscar E Mendoza, Petr Knoth, Gabriella Pasi, Allan Hanbury
INTRODUCTION: Clinical trials (CTs) often fail due to inadequate patient recruitment. Finding eligible patients involves comparing the patient's information with the CT eligibility criteria. Automated patient matching offers the promise of improving the process, yet the main difficulties of CT retrieval lie in the semantic complexity of matching unstructured patient descriptions with semi-structured, multi-field CT documents and in capturing the meaning of negation coming from the eligibility criteria...
July 12, 2023: Journal of Biomedical Informatics
https://read.qxmd.com/read/37431618/severe-congenital-t-lymphocytopenia-may-affect-the-outcome-of-neonatal-intensive-care
#34
JOURNAL ARTICLE
Ivana Hulinkova, Veronika Medova, Andrea Soltysova, Veronika Dobsinska, Andrej Ficek, Peter Ciznar
AIM: Circular DNA segments TREC (T-cell receptor excision circles) formed during T-lymphocyte maturation in the thymus, are a sensitive marker of thymic lymphocyte production in a broader manner. Quantification using qPCR is proposed as a surrogate marker of T cell malfunction in various primary and secondary conditions in a non-SCID selected risk newborn population. METHODS: We collected 207 dry blood spot samples during the years 2015-2018, from newly admitted risk newborns...
July 10, 2023: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://read.qxmd.com/read/37419334/comprehensive-phenotypic-analysis-of-diverse-foxn1-variants
#35
JOURNAL ARTICLE
Angela Moses, Pratibha Bhalla, Austin Thompson, Laijun Lai, Fatma S Coskun, Christine M Seroogy, Maria Teresa de la Morena, Christian A Wysocki, Nicolai S C van Oers
Impact of human FOXN1 variants on T cell development determined with transcriptional assays, protein localization studies, mouse models, and reaggregate thymus organ cultures. Variants with benign, partial-, complete- loss and gain- of function outcomes were found.
July 5, 2023: Journal of Allergy and Clinical Immunology
https://read.qxmd.com/read/37417674/impact-of-trauma-resuscitation-emergency-care-nurse-deployment-in-trauma-activations-in-a-rural-trauma-center
#36
JOURNAL ARTICLE
Michael W Holder, Matthew A Leonard, Hannah W Collins, Allison A Brogan, J Bracken Burns
BACKGROUND: Although the role of a dedicated trauma nurse has been implemented in an urban setting, it has not been studied in the rural trauma setting. We instituted a trauma resuscitation emergency care (TREC) nurse role to respond to trauma activations at our rural trauma center. OBJECTIVE: This study aims to determine the impact of TREC nurse deployment on the timeliness of resuscitation interventions in trauma activations. METHODS: This pre- and postintervention study at a rural Level I trauma center compared the time to resuscitation interventions before (August 2018 to July 2019) and after (August 2019 to July 2020) deploying TREC nurses to trauma activations...
July 2023: Journal of Trauma Nursing: the Official Journal of the Society of Trauma Nurses
https://read.qxmd.com/read/37407445/biotypic-and-genotypic-diversity-in-pasteurella-canis-isolated-from-host-animals-and-humans-differences-in-trehalose-fermentation-and-nucleotide-sequences-encoding-trehalose-6-phosphate-hydrolase-trec
#37
JOURNAL ARTICLE
Takahiro Maeda, Mieko Goto, Yuzo Tsuyuki, Sachiko Shibata, Kenichi Shizuno, Haruno Yoshida, Jae-Seok Kim, Takashi Takahashi
The biotypic and genotypic features of Pasteurella canis isolated from dogs, cats, and humans were clarified by repetitive sequence-based fingerprinting and nucleotide sequences encoding trehalose-6-phosphate hydrolase (treC). Thirty P. canis and 48 P. multocida isolates were collected from dogs, cats, and humansto perform biotyping. The genotyping of P. canis by fingerprinting was followed by dendrogram construction. The whole-genome sequences (WGSs) were searched for the enzyme-coding nucleotide sequences around the main and adjacent loci constituting the operon...
July 4, 2023: Journal of Veterinary Medical Science
https://read.qxmd.com/read/37395728/enhancing-efficiency-of-low-grade-heat-harvesting-by-structural-vibration-entropy-in-thermally-regenerative-electrochemical-cycles
#38
JOURNAL ARTICLE
Ahreum Choi, You-Yeob Song, Juyoung Kim, Donghyeon Kim, Min-Ho Kim, Seok Woo Lee, Dong-Hwa Seo, Hyun-Wook Lee
The majority of waste-heat energy exists in the form of low-grade heat (<100°C), which is immensely difficult to convert into usable energy using conventional energy-harvesting systems. Thermally regenerative electrochemical cycles (TREC), which integrate battery and thermal-energy-harvesting functionalities, have been considered an attractive system for low-grade heat harvesting. Herein, we investigate the role of structural vibration modes in enhancing the efficacy of TREC systems. We analyze how changes in bonding covalency, influenced by the amount of structural water molecules, impact the vibration modes...
July 3, 2023: Advanced Materials
https://read.qxmd.com/read/37386193/a-novel-smartphone-app-to-support-the-clinical-practice-of-pediatric-ophthalmology-and-strabismus-the-validation-of-visual-acuity-tests
#39
JOURNAL ARTICLE
Elisabetta Racano, Giulia Malfatti, Riccardo Pertile, Roberta Delle Site, Federica Romanelli, Andrea Nicolini
UNLABELLED: This study is aimed at describing the TreC Oculistica novel smartphone App that facilitated the clinical practice of pediatric ophthalmology and strabismus during the COVID-19 pandemic and at reporting on the validation of visual acuity tests in a home setting. The Trec Oculistica smartphone App was prescribed to eligible patients at the Pediatric Ophthalmology and Strabismus Clinic, Ophthalmology Unit of Rovereto Hospital, between September 2020 and March 2022. Four key indicators were identified for monitoring visual and visuo-motor functions remotely: visual acuity, ocular motility, head posture, and color vision...
June 29, 2023: European Journal of Pediatrics
https://read.qxmd.com/read/37368326/engineering-of-solvation-entropy-by-poly-4-styrenesulfonic-acid-additive-in-an-aqueous-electrochemical-system-for-enhanced-low-grade-heat-harvesting
#40
JOURNAL ARTICLE
Jia Li, Xiaoya Li, Donghoon Lee, Jeonghun Yun, Angyin Wu, Cheng Jiang, Seok Woo Lee
The thermally regenerative electrochemical cycle (TREC) is a reliable and efficient approach to converting low-grade heat into electricity. A high temperature coefficient (α) is the key to maximize the energy conversion efficiency of the TREC system. In this study, we present significant improvement of α of a Prussian blue analogue (PBA)-based electrochemical cell by adding poly(4-styrenesulfonic acid) (PSS) to the electrolyte. Raman spectra showed that water-soluble charged polymers strongly affect the ion hydration structure and increase the entropy change (Δ S ) during ion intercalation in PBA...
June 27, 2023: Nano Letters
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