1,345 results match your criteria expanded carrier

The use of expanded carrier screening of gamete donors.

Hum Reprod 2021 Apr 11. Epub 2021 Apr 11.

Institute for Women's Health, University College London, London, UK.

Study Question: What are the sperm and egg donor rejection rates after expanded carrier screening (ECS)?

Summary Answer: Using an ECS panel looking at 46/47 genes, 17.6% of donors were rejected.

What Is Known Already: The use of ECS is becoming commonplace in assisted reproductive technology, including testing of egg and sperm donors. Read More

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Optimization of culture conditions for human bone marrow-derived mesenchymal stromal cell expansion in macrocarrier-based tide motion system.

Biotechnol J 2021 Apr 10:e2000540. Epub 2021 Apr 10.

Stempeutics Research Pvt Ltd, Shirdi Sai Baba Cancer Hospital, Manipal, Karnataka, 576104, India.

Background: With high cell doses required for Mesenchymal stromal cell (MSC) clinical trials, there is a need to upgrade technologies that facilitate efficient scale up of MSCs for cell therapy. Conventional expansion with two-dimensional (2D) culture vessels becomes the bottleneck when large cell dosages are required. Tide Motion bioreactors offer a robust, scalable platform using BioNOC™ II macrocarriers developed for the production of adherent cells. Read More

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[Genetic screening of prospective parents].

Ugeskr Laeger 2021 Mar;183(13)

Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. Read More

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Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Genes (Basel) 2021 Mar 29;12(4). Epub 2021 Mar 29.

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.

Demands for expanded carrier screening (ECS) are growing and ECS is becoming an important part of obstetrics practice and reproductive planning. The aim of this study is to evaluate the feasibility of a small-size ECS panel in clinical implementation and investigate Chinese couples' attitudes towards ECS. An ECS panel containing 11 recessive conditions was offered to Chinese pregnant women below 16 gestational weeks. Read More

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Report of Two Novel Thalassemia Variants, : c.181delG and : c.121_126delAAGACC, in Chinese Individuals.

Hemoglobin 2021 Jan 1;45(1):52-55. Epub 2021 Apr 1.

Central Laboratory, Hainan General Hospital, Hainan Hospital Affiliated to The Hainan Medical College, Hainan Provincial Key Laboratory of Cell and Molecular Genetic Translational Medicine, Haikou, Hainan Province, People's Republic of China.

In this study, we report two novel thalassemia variants detected in Chinese individuals using targeted NGS technology. We detected a novel frameshift variant, : c.181delG, in a 32-year-old Chinese individual. Read More

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January 2021

Identification of Two Novel Thalassemia Variants, : c.263delA and : c.376dupC, in Chinese Individuals.

Hemoglobin 2021 Jan 1;45(1):49-51. Epub 2021 Apr 1.

Department of Hematology, Dongguan Houjie Hospital, Dongguan, Guangdong Province, People's Republic of China.

We detected a novel frameshift variant (: c.263delA) and - - (Southeast Asian), deletion in a 28-year-old Chinese woman with α-thalassemia (α-thal). This novel variant (a single nucleotide deletion at nucleotide 263 of codon 87) was detected by targeted next generation sequencing (NSG), resulting in a stop codon at amino acid 102 in exon 2 of the gene. Read More

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January 2021

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.

J Community Genet 2021 Mar 22. Epub 2021 Mar 22.

Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Vrije Universiteit Amsterdam, PO Box 7057, 1007, MB, Amsterdam, the Netherlands.

Preconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). Read More

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Technical factors to consider when developing an Expanded Carrier Screening platform.

Curr Opin Obstet Gynecol 2021 Mar 17. Epub 2021 Mar 17.

Igenomix Italia, Marostica, Vicenza, Italy Igenomix Foundation, Valencia, Spain.

Purpose Of Review: Expanded Carrier Screening (ECS) is a genetic test able to detect carriers for a large number of autosomal recessive and X-linked diseases. Its clinical utilization is increasing but some technical aspects for its implementation are still controversial.

Recent Findings: In the current literature, several aspects of ECS panel implementation have been addressed. Read More

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STING Activation with the cGAMP-STINGΔTM Signaling Complex.

Bio Protoc 2021 Feb 5;11(3):e3905. Epub 2021 Feb 5.

Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.

Activating the STING (stimulator of interferon genes) signaling pathway via administration of STING agonist cyclic GMP-AMP (cGAMP) has shown great promise in cancer immunotherapy. While state-of-the-art approaches have predominantly focused on the encapsulation of cGAMP into liposomes or polymersomes for cellular delivery, we discovered that the recombinant STING protein lacking the transmembrane domain (STINGΔTM) could be used as a functional carrier for cGAMP delivery and elicit type I IFN expression in STING-deficient cell lines. Using this approach, we generated anti-tumoral immunity in mouse melanoma and colon cancer models, providing a potential translatable platform for STING agonist-based immunotherapy. Read More

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February 2021

In-house validation of AF4-MALS-UV for polystyrene nanoplastic analysis.

Anal Bioanal Chem 2021 May 16;413(11):3027-3039. Epub 2021 Mar 16.

Environment and Health Department, Istituto Superiore di Sanità, 00161, Rome, Italy.

The suitability of asymmetric flow field-flow fractionation (AF4) coupled on-line to multi-angle light scattering (MALS) and UV diode array (UV-DAD) detectors was tested to simultaneously detect polystyrene nanoplastics (PS-NPs) and collect information about their size. A mixture of four sizes of PS-NPs at 20 nm, 60 nm, 100 nm and 200 nm was prepared by dilution with ultrapure deionized water and gentle mixing and was used as test sample for a polydisperse nanoplastic system. The AF4 method separated each single size of PS-NP mixture in a total time of 48 min by using 0. Read More

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First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Orphanet J Rare Dis 2021 Mar 12;16(1):130. Epub 2021 Mar 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093, Nantes Cedex 1, France.

Background: Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire. Read More

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SLC7A11 Reduces Laser-Induced Choroidal Neovascularization by Inhibiting RPE Ferroptosis and VEGF Production.

Front Cell Dev Biol 2021 18;9:639851. Epub 2021 Feb 18.

Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

In age-related macular degeneration (AMD), one of the principal sources of vascular endothelial growth factor (VEGF) is retinal pigment epithelium (RPE) cells under hypoxia or oxidative stress. Solute carrier family 7 member 11 (SLC7A11), a key component of cystine/glutamate transporter, regulates the level of cellular lipid peroxidation, and restrains ferroptosis. In our study, we assessed the role of SLC7A11 in laser-induced choroidal neovascularization (CNV) and explored the underlying mechanism. Read More

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February 2021

Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.

Expert Rev Mol Diagn 2021 Mar 29:1-13. Epub 2021 Mar 29.

Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, CA, USA.

: In 2009, a novel, CGG repeat primed PCR assay was designed with primers flanking the triplet repeat region, as well as a third chimeric primer complementary to the (CGG)n repeat, that was capable of amplifying alleles throughout the repeat range. This assay for the first time allowed consistent detection of large full mutation alleles with PCR, resolution of heterozygosity in females and mapping of AGG interspersions.: The AmplideX Fragile X Dx and Carrier Screen Kit (Asuragen, Inc. Read More

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Glucagon Like Peptide 1 Receptor Agonists for Targeted Delivery of Antisense Oligonucleotides to Pancreatic Beta Cell.

J Am Chem Soc 2021 Mar 24;143(9):3416-3429. Epub 2021 Feb 24.

Research and early Development, Discovery Sciences,, AstraZeneca, Gothenburg, Sweden.

The extra hepatic delivery of antisense oligonucleotides (ASOs) remains a challenge and hampers the widespread application of this powerful class of therapeutic agents. In that regard, pancreatic beta cells are a particularly attractive but challenging cell type because of their pivotal role in diabetes and the fact that they are refractory to uptake of unconjugated ASOs. To circumvent this, we have expanded our understanding of the structure activity relationship of ASOs conjugated to Glucagon Like Peptide 1 Receptor (GLP1R) agonist peptide ligands. Read More

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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

Mol Genet Genomic Med 2021 Feb 24:e1621. Epub 2021 Feb 24.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.

Background: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such screening panels. Some cases have been reported with metabolic symptoms in childhood yet other cases describe a benign clinical course, suggesting the clinical phenotype is not well defined. Read More

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February 2021

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction.

Hum Reprod Open 2021 12;2021(1):hoaa063. Epub 2021 Feb 12.

Universitat Bielefeld, Fakultat fur Biologie, D-33501 Bielefeld, Germany.

Expanded carrier screening (ECS) entails a screening offer for carrier status for multiple recessive disorders simultaneously and allows testing of couples or individuals regardless of ancestry or geographic origin. Although universal ECS-referring to a screening offer for the general population-has generated considerable ethical debate, little attention has been given to the ethics of preconception ECS for patients applying for assisted reproduction using their own gametes. There are several reasons why it is time for a systematic reflection on this practice. Read More

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February 2021

Synthesis and Electronic Properties of Diketopyrrolopyrrole-Based Polymers with and without Ring-Fusion.

Macromolecules 2021 Jan 11;54(2):970-980. Epub 2021 Jan 11.

Department of Chemistry and Chemical Engineering, Chalmers University of Technology, SE-41296 Göteborg, Sweden.

Diketopyrrolopyrroles (DPP) have been recognized as a promising acceptor unit for construction of semiconducting donor-acceptor (D-A) polymers, which are typically flanked by spacers such as thiophene rings a carbon-carbon single bond formation. It may suffer from a decrease in the coplanarity of the molecules especially when bulky side chains are installed. In this work, the two N atoms in the DPP unit are further fused with C-3 of the two flanking thiophene rings, yielding a π-expanded, very planar fused-ring building block (DPPFu). Read More

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January 2021

Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.

Hong Kong Med J 2021 Feb 18. Epub 2021 Feb 18.

The Chinese University of Hong Kong-Baylor College of Medicine Joint Center of Medical Genetics, Hong Kong.

Introduction: To determine the carrier frequency and common mutations of Mendelian variants in Chinese couples using next-generation sequencing (NGS).

Methods: Preconception expanded carrier testing using NGS was offered to women who attended the subfertility clinic. The test was then offered to the partners of women who had positive screening results. Read More

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February 2021

Humoral signatures of protective and pathological SARS-CoV-2 infection in children.

Nat Med 2021 03 12;27(3):454-462. Epub 2021 Feb 12.

Ragon Institute of MGH, MIT and Harvard, Cambridge, MA, USA.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic continues to spread relentlessly, associated with a high frequency of respiratory failure and mortality. Children experience largely asymptomatic disease, with rare reports of multisystem inflammatory syndrome in children (MIS-C). Identifying immune mechanisms that result in these disparate clinical phenotypes in children could provide critical insights into coronavirus disease 2019 (COVID-19) pathogenesis. Read More

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Legal challenges in reproductive genetics.

Sonia M Suter

Fertil Steril 2021 Feb;115(2):282-289

Health Law Initiative, The George Washington University Law School, Washington, D.C.. Electronic address:

Recent advancements in reproductive genetics have resulted in the availability of an extraordinary amount of new and detailed information for patients and providers. Whereas this information can inform many who are facing difficult clinical decisions, it can also introduce complex and uncertain choices. Expanded carrier screening and preimplantation genetic diagnosis for aneuploidy are important examples of new genetic techniques that are now widely used in reproductive medicine. Read More

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February 2021

[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].

Yanwei Sha Lin Li

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Feb;38(2):123-126

Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, China.

Objective: To explore the genetic basis for a Chinese pedigree affected with amyloidosis cutis dyschromica.

Methods: High-throughput sequencing was carried out for the proband. Bioinformatic analysis was used to identify the pathogenic variants. Read More

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February 2021

Abnormal screens among nonmutation carriers in the High Risk Ontario Breast Screening Program.

Breast J 2021 Feb 7. Epub 2021 Feb 7.

Division of General Surgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.

Background: The Ontario Breast Screening Program was expanded in 2011 to offer annual MRI and mammography to women with high-risk genetic mutations (e.g., BRCA1/2) and women with strong family histories and ≥25% estimated lifetime risk of breast cancer. Read More

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February 2021

Ultrasensitive detection of cyclin D1 by a self-enhanced ECL immunosensor based on BiS quantum dots.

Analyst 2021 Mar 4;146(6):2057-2064. Epub 2021 Feb 4.

National and Local Joint Engineering Research Center of Biomedical Functional Materials, Jiangsu Key Laboratory of Biofunctional Materials, College of Chemistry and Materials Science, Nanjing Normal University, Nanjing 210023, P. R. China.

Bismuth sulfide quantum dots (BiS QDs), which have excellent optical and thermoelectric properties, represent a green and non-toxic semiconductor material that has been widely used in catalysis and photoelectric conversion devices. At present, research on this material has gradually expanded into the biological field. Herein, the biomineralization method mediated by bovine serum albumin (BSA) was utilized to synthesize BiS QDs with monodispersity, excellent colloidal stability, and good biocompatibility. Read More

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Insights into triterpene synthesis and unsaturated fatty-acid accumulation provided by chromosomal-level genome analysis of Akebia trifoliata subsp. australis.

Hortic Res 2021 Feb 1;8(1):33. Epub 2021 Feb 1.

Key Laboratory of Research and Utilization of Ethnomedicinal Plant Resources of Hunan Province, College of Biological and Food Engineering, Huaihua University, Huaihua, 418000, China.

Akebia trifoliata subsp. australis is a well-known medicinal and potential woody oil plant in China. The limited genetic information available for A. Read More

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February 2021

Poly(aspartic acid)-based pH-responsive targeting co-delivery nanoparticles.

J Biomater Appl 2021 Jan 28:885328220988071. Epub 2021 Jan 28.

Large Apparatus Analysis and Test Centre, Shanxi Academy of Analytical Science, Taiyuan, China.

Encapsulation of therapeutic molecules into nanocarrier is an extensively explored strategy to treat cancer more effectively. In this study, pH-responsive targeting dual-agent delivery nanoparticles were prepared, into which hydrophilic doxorubicin hydrochloride (DOX) and hydrophobic curcumin (CUR) were entrapped. Tyrosine (Tyr) was grafted onto poly(aspartic acid) (PASP) to produce PASP-Tyr, the following reaction between hyaluronic acid (HA) and ethylenediamine (EDA) modified PASP-Tyr formed the nanocarrier HA-EDA-PASP-Tyr (HEPT), and the loading capacity was up to 50. Read More

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January 2021

Expanded carrier screening for recessively inherited disorders: economic burden and factors in decision-making when one individual in a couple is identified as a carrier.

J Assist Reprod Genet 2021 Jan 27. Epub 2021 Jan 27.

Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA, USA.

Purpose: When undergoing expanded carrier screening (ECS), couples are often screened sequentially to reduce need for a second individual's test. It is unknown how often partners of individuals found to be carriers complete the recommended testing with a sequential approach and what factors contribute to decision-making regarding partner testing. Additionally, the economic burden placed on individuals by ECS testing and its effect on partner testing has not been evaluated. Read More

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January 2021

Ehlers-Danlos syndrome: molecular and clinical characterization of TNXA/TNXB chimeras in congenital adrenal hyperplasia.

J Clin Endocrinol Metab 2021 Jan 22. Epub 2021 Jan 22.

Endocrinology Service, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires.

Context: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras.

Objective: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype in a large cohort of Argentine congenital adrenal hyperplasia (CAH) patients to assess the prevalence of this condition in our population.

Design, Settings, Participants, Intervention: TNXB-gene analysis was performed in 66 non-related CAH patients that were carriers of the CYP21A2 gene deletion. Read More

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January 2021

A targeted rheological bioink development guideline and its systematic correlation with printing behavior.

Biofabrication 2021 Jan 20. Epub 2021 Jan 20.

Institute of Bioprocess Engineering and Pharmaceutical Technology, Technische Hochschule Mittelhessen, Wiesenstraße 14, Giessen, Hesse, 35390, GERMANY.

Bioprinting for tissue or disease models is a promising but complex process involving biofabrication, cell culture and a carrier material known as bioink. The native extracellular matrix (ECM), which forms the scaffold for cells in vivo, consists of several components including collagen as a gelling agent to confer mechanical stiffness and provide a substrate for cell attachment. Bioprinting therefore needs an artificial ECM that fulfils the same functions as its natural counterpart during and after the printing process. Read More

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January 2021

Syntheses and Characterization of Novel Perovskite-Type LaScO-Based Lithium Ionic Conductors.

Molecules 2021 Jan 8;26(2). Epub 2021 Jan 8.

All-Solid-State Battery Unit, Institute of Innovation Research, Tokyo Institute of Technology, 4259 Nagatsuta, Midori-ku, Yokohama 226-8502, Japan.

Perovskite-type lithium ionic conductors were explored in the (LiLa)ScO system following their syntheses via a high-pressure solid-state reaction. Phase identification indicated that a solid solution with a perovskite-type structure was formed in the range 0 ≤ < 0.6. Read More

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January 2021

Characteristics of expanded polystyrene microplastics on island beaches in the Pearl River Estuary: abundance, size, surface texture and their metals-carrying capacity.

Ecotoxicology 2021 Jan 9. Epub 2021 Jan 9.

Key Laboratory of Tropical Marine Bio-resources and Ecology, Guangdong Provincial Key Laboratory of Applied Marine Biology, South China Sea Institute of Oceanology, Innovation Academy of South China Sea Ecology and Environmental Engineering, Chinese Academy of Sciences, Guangzhou, 510301, China.

While expanded polystyrene (EPS) microplastics have been widely recognized as one of the most important components of plastic litter in the intertidal zones of the global ocean, our understanding of their environmental fate on island beaches is insufficient. In this study, we intended to reveal that the latest EPS microplastic pollution status on 5 island beaches in the Pearl River Estuary, China, by comprehensively assessing the abundance, distribution, size, surface texture and carrying capacity of heavy metals (Cd, As, Cr, Ni, Cu, Pb, Mn, Fe, Al). High level of EPS microplastic abundance ranged from 328 to 82,276 particles m was found, with the highest abundance at Guishan Island and the lowest at Dong'ao Island. Read More

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January 2021