34,293 results match your criteria carrier screening

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Am J Hum Genet 2021 Apr 16. Epub 2021 Apr 16.

Department of Epidemiology, University of Washington, Seattle, WA 98105, USA. Electronic address:

Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC) quantitative traits. We discovered 14 single variant-RBC trait associations at 12 genomic loci, which have not been reported previously. Read More

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Autosomal recessive congenital hereditary corneal dystrophy associated with a novel mutation in two consanguineous Tunisian families.

Br J Ophthalmol 2021 Apr 20. Epub 2021 Apr 20.

Molecular and Functional Genetics Laboratory, University of Sfax, Faculty of Science of Sfax, Sfax, Tunisia.

Background: Autosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 () gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).

Methods: To identify gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families. Read More

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Expanded Carrier Screening and the Complexity of Implementation.

Obstet Gynecol 2021 May;137(5):959-960

Medical Genetics, Kaiser Oakland Medical Center, Oakland, California.

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7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case.

Eur Rev Med Pharmacol Sci 2021 Apr;25(7):2949-2957

Unit of Medical Genetics, "Madonna delle Grazie" Hospital, Matera, Italy.

Objective: Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements smaller than 5-10 megabase (Mb), for which classical cytogenetic approaches are not sensitive enough. The use of Array-CGH has increased of 10-20% the detection rate of unbalanced cryptic rearrangements, such as deletions and/or duplications.

Patients And Methods: We present here the first report of a patient with 7q35q36. Read More

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Reduction-Responsive Anticancer Nanodrug Using a Full Poly(ethylene glycol) Carrier.

ACS Appl Mater Interfaces 2021 Apr 20. Epub 2021 Apr 20.

MOE Key Laboratory of Macromolecular Synthesis and Functionalization, Department of Polymer Science and Engineering, Zhejiang University, Hangzhou 310027, China.

Poly(ethylene glycol) (PEG) is applied extensively in biomedical fields because of its nontoxic, nonimmunogenic, and protein resistance properties. However, the strong hydrophilicity of PEG prevents it from self-assembling into an amphiphilic micelle in water, making it a challenge to fabricate a full-PEG carrier to deliver hydrophobic anticancer drugs. Herein, a paclitaxel (PTX)-loaded nanodrug was readily prepared through self-assembly of PTX and an amphiphilic PEG derivative, which was synthesized via melt polycondensation of two PEG diols (i. Read More

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Ultrafast nonequilibrium dynamic process of separate electrons and holes during exciton formation in few-layer tungsten disulfide.

Phys Chem Chem Phys 2021 Mar 23;23(12):7135-7144. Epub 2021 Mar 23.

School of Physics and Optoelectronic Engineering, Guangdong University of Technology, Guangzhou 510006, Guangdong, China.

Femtosecond transient absorption spectroscopy has been employed to unravel separate initial nonequilibrium dynamic processes of photo-injected electrons and holes during the formation process of the lowest excitons at the K-valley in few-layer tungsten disulfide. Charge carrier thermalization and cooling, as well as concomitant many-body effects on the exciton resonances, are distinguished. The thermalization of holes is observed to be faster than that of electrons. Read More

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A COVID-19 outbreak on board ship: Analysis of the sociotechnical system of epidemiological management in the French Navy.

Saf Sci 2021 Aug 13;140:105296. Epub 2021 Apr 13.

French Military Epidemiology and Public Health Center (CESPA), French Military Health Service (SSA), Marseille, France.

In late 2019, an epidemic of SARS-CoV-2 broke out in central China. Within a few months, this new virus had spread right across the globe, officially being classified as a pandemic on 11 March 2020. In France, which was also being affected by the virus, the government applied specific epidemiological management strategies and introduced unprecedented public health measures. Read More

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Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.

Pediatr Blood Cancer 2021 Apr 19:e29071. Epub 2021 Apr 19.

Centre de Recherche Saint-Antoine, APHP, Armand-Trousseau Hospital, French Registry for Severe Chronic Neutropenia, CRMR of Chronic Neutropenia, Department of Pediatrics Hematology and Oncology, Sorbonne Université, Inserm, Paris, France.

Shwachman-Diamond syndrome with Shwachman-Bodian-Diamond syndrome (SBDS) biallelic variants is a rare disorder that predisposes the carrier to malignant hemopathies but solid-cancer predisposition is poorly known. Among 155 cases entered in the French Registry for Severe Chronic Neutropenia, three were identified with malignant solid tumors (ovary, breast, and esophagus). All cancers occurred during the fifth decade and, despite being localized at diagnosis, were rapidly fatal thereafter. Read More

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The Relationship of Mutation Carriage of and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey.

Eur J Breast Health 2021 Apr 31;17(2):137-144. Epub 2021 Mar 31.

Clinic of Medical Pathology, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey.

Objective: genes play a role in the etiopathogenesis of 10%-30% of triple-negative breast cancer (TNBC). This study aims to investigate the genes and the demographic and clinicopathological features in patients with TNBC. The study also examined the impact of cancer history of TNBC individuals' relatives on the risk of mutation carriership rate. Read More

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Integrative Analysis of Methylation and Copy Number Variations of Prostate Adenocarcinoma Based on Weighted Gene Co-expression Network Analysis.

Front Oncol 2021 1;11:647253. Epub 2021 Apr 1.

Department of Urology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Prostate adenocarcinoma (PRAD) is the most pervasive carcinoma diagnosed in men with over 170,000 new cases every year in the United States and is the second leading cause of death from cancer in men despite its indolent clinical course. Prostate-specific antigen testing, which is the most commonly used non-invasive diagnostic method for PRAD, has improved early detection rates in the past decade, but its effectiveness for monitoring disease progression and predicting prognosis is controversial. To identify novel biomarkers for these purposes, we carried out weighted gene co-expression network analysis of the top 10,000 variant genes in PRAD from The Cancer Genome Atlas in order to identify gene modules associated with clinical outcomes. Read More

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Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier.

Josef Finsterer

Am J Case Rep 2021 Apr 19;22:e930175. Epub 2021 Apr 19.

Neurological Department, Landstrasse Clinic, Messerli Institute, Vienna, Austria.

BACKGROUND The normalization of serum lactate levels in a patient with non-syndromic mitochondrial disorder due to the m.3243A>G mitochondrial DNA (mtDNA) variant has not been previously reported. CASE REPORT A 57-year-old woman was diagnosed with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to the m. Read More

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Fetal Screening and Whole Genome Sequencing: Where are the Limits?

Expert Rev Mol Diagn 2021 Apr 19. Epub 2021 Apr 19.

Department of Medical Affairs, Myriad Women's Health, South San Francisco, CA, USA.

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Attitude and Acceptability of the Self-Sampling in HPV Carrier Women.

Hisp Health Care Int 2021 Apr 19:15404153211001577. Epub 2021 Apr 19.

School of Nursing, The University of Texas at Austin, TX, USA.

Methods: The descriptive, cross-sectional design included a convenience sample of Mexican women with a previous diagnosis of cervical dysplasia.

Results: Women ( = 61) were young adults ( = 27 years, = 6.92) reporting single marital status (55%) and sexually active (93%). Read More

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Development of an enzyme-linked immunosorbent assay for the detection of mebendazole in chicken and mutton.

Anal Methods 2021 Apr 23;13(14):1740-1746. Epub 2021 Mar 23.

College of Veterinary Medicine, Shanxi Agricultural University, Taigu, Shanxi 030810, PR China.

Mebendazole (MBZ), a synthetic benzimidazole, is most widely used for the treatment of intestinal helminthiasis. In the present study, a hapten mimicking the MBZ structure was designed by introducing propanoic acid and coupling to carrier proteins by the active ester method to immunize New Zealand rabbits. A sensitive enzyme-linked immunosorbent assay (ELISA) was developed for the analysis of MBZ in food samples. Read More

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Restricted Channel Migration in 2D Multilayer ReS.

ACS Appl Mater Interfaces 2021 Apr 16. Epub 2021 Apr 16.

Department of Applied Physics, Sookmyung Women's University, Seoul 04310, Republic of Korea.

When thickness-dependent carrier mobility is coupled with Thomas-Fermi screening and interlayer resistance effects in two-dimensional (2D) multilayer materials, a conducting channel migrates from the bottom surface to the top surface under electrostatic bias conditions. However, various factors including (i) insufficient carrier density, (ii) atomically thin material thickness, and (iii) numerous oxide traps/defects considerably limit our deep understanding of the carrier transport mechanism in 2D multilayer materials. Herein, we report the restricted conducting channel migration in 2D multilayer ReS after a constant voltage stress of gate dielectrics is applied. Read More

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Morphologically homogeneous, pH-responsive gold nanoparticles for non-invasive imaging of HeLa cancer.

Nanomedicine 2021 Apr 13:102394. Epub 2021 Apr 13.

Division of Bioconvergence Analysis, Korea Basic Science Institute, Ochang, Cheongju 28119, Republic of Korea; Bio-Analytical Science, University of Science and Technology, 217 Gajeong-ro Yuseong-gu Daejeon, 34113, Republic of Korea. Electronic address:

Gold nanoparticles (AuNPs) have been widely used as nanocarriers in drug delivery to improve the efficiency of chemotherapy treatment and enhance early disease detection. The advantages of AuNPs include their excellent biocompatibility, easy modification and functionalization, facile synthesis, low toxicity, and controllable particle size. This study aimed to synthesize a conjugated citraconic anhydride link between morphologically homogeneous AuNPs and doxorubicin (DOX) (DOX-AuNP). Read More

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Integrin Activation Enables Sensitive Detection of Functional CD4 and CD8 T Cells: Application to Characterize SARS-CoV-2 Immunity.

Front Immunol 2021 29;12:626308. Epub 2021 Mar 29.

Institute of Medical Psychology and Behavioral Neurobiology, University of Tübingen, Tübingen, Germany.

We have previously shown that conformational change in the β-integrin is a very early activation marker that can be detected with fluorescent multimers of its ligand intercellular adhesion molecule (ICAM)-1 for rapid assessment of antigen-specific CD8 T cells. In this study, we describe a modified protocol of this assay for sensitive detection of functional antigen-specific CD4 T cells using a monoclonal antibody (clone m24 Ab) specific for the open, high-affinity conformation of the β-integrin. The kinetics of β-integrin activation was different on CD4 and CD8 T cells (several hours vs. Read More

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Genetics of and male infertility.

Transl Androl Urol 2021 Mar;10(3):1391-1400

Division of Urology, Department of Surgery, Mount Sinai Hospital and Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada.

Cystic fibrosis (CF) is a rare autosomal-recessive disorder manifested as multisystem organ dysfunction. The cystic fibrosis transmembrane conductance regulator (CFTR) protein functions as an ion transporter on the epithelium of exocrine glands, regulating secretion viscosity. The gene, encoded on chromosome 7, is required for the production and trafficking of the intact and functional CFTR protein. Read More

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Efficient calculation of carrier scattering rates from first principles.

Nat Commun 2021 Apr 13;12(1):2222. Epub 2021 Apr 13.

Energy Technologies Area, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.

The electronic transport behaviour of materials determines their suitability for technological applications. We develop a computationally efficient method for calculating carrier scattering rates of solid-state semiconductors and insulators from first principles inputs. The present method extends existing polar and non-polar electron-phonon coupling, ionized impurity, and piezoelectric scattering mechanisms formulated for isotropic band structures to support highly anisotropic materials. Read More

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Prognostic Risk Classification for Biochemical Relapse-Free Survival in Oligometastatic Recurrent Prostate Cancer Determined by Choline PET.

Clin Genitourin Cancer 2021 Mar 16. Epub 2021 Mar 16.

Department of Nuclear Medicine, Institut Paoli-Calmettes, Marseille, France.

Background: Choline positron emission tomography/computed tomography (PET/CT) is a new imaging technique for the detection of oligometastatic (OM) prostate cancer. The aim of this study was to evaluate the outcomes after initial OM diagnoses; treatment, particularly metastasis-directed therapy (MDT); and determine risk groups.

Patients And Methods: This multi-center, retrospective study included patients with hormone-sensitive biological relapse after local treatment with curative intent and with fewer than six choline PET/CT metastases. Read More

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Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing.

J Psychiatr Res 2021 Apr 1;138:125-129. Epub 2021 Apr 1.

Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands.

Inborn errors of metabolism (IEMs) are a group of rare genetic disorders which, when emerging later in life, are often characterized by neuropsychiatric manifestations including psychosis. This study aimed to determine whether it would be useful to screen patients presenting with a psychotic disorder for IEMs by a single blood sample using Next Generation Sequencing (NGS), in order to detect rare, treatable causes of psychotic disorders. Blood was drawn from 60 patients with a psychotic disorder, with a duration of illness of less than 5 years. Read More

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Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.

BMC Pregnancy Childbirth 2021 Apr 12;21(1):294. Epub 2021 Apr 12.

Department of Ultrasound, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Background: Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. Read More

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Cognitive decline heralds onset of symptomatic inherited prion disease.

Brain 2021 Apr;144(3):989-998

Department of Neuropsychology, NHNN, University College London Hospitals NHS Foundation Trust, London, UK.

The clinical effectiveness of any disease-modifying treatment for prion disease, as for other neurodegenerative disorders, will depend on early treatment before damage to neural tissue is irrevocable. Thus, there is a need to identify markers that predict disease onset in healthy at-risk individuals. Whilst imaging and neurophysiological biomarkers have shown limited use in this regard, we recently reported progressive neurophysiological changes in individuals with the inherited prion disease mutation P102L. Read More

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Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

J Neuromuscul Dis 2021 Apr 2. Epub 2021 Apr 2.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.

Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the carrier frequency of different pathogenic variants in the DMD gene for the first time in an Indian cohort.

Methods: Ninety-one mothers of genetically confirmed DMD probands are included in this study. Read More

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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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Nano-Neurotheranostics: Impact of Nanoparticles on Neural Dysfunctions and Strategies to Reduce Toxicity for Improved Efficacy.

Front Pharmacol 2021 26;12:612692. Epub 2021 Mar 26.

Department of Zoology, School of Life Sciences, Ravenshaw University, Cuttack, India.

Nanotheranostics is one of the emerging research areas in the field of nanobiotechnology offering exciting promises for diagnosis, bio-separation, imaging mechanisms, hyperthermia, phototherapy, chemotherapy, drug delivery, gene delivery, among other uses. The major criteria for any nanotheranostic-materials is 1) to interact with proteins and cells without meddling with their basic activities, 2) to maintain their physical properties after surface modifications and 3) must be nontoxic. One of the challenging targets for nanotheranostics is the nervous system with major hindrances from the neurovascular units, the functional units of blood-brain barrier. Read More

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Medical and Mental Health Implications of Gestational Surrogacy.

Am J Obstet Gynecol 2021 Apr 8. Epub 2021 Apr 8.

Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, NY.

Gestational surrogacy in the United States has quadrupled since 1999, but to date, few states explicitly permit compensated gestational surrogacy. Current legal prohibitions are often influenced by outdated and stereotyped understandings of surrogacy. It is increasingly important to understand the current literature on the medical and mental health impacts of surrogacy, as well as how state legislatures have addressed compensated gestational surrogacy in recent years. Read More

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Diagnostic and Therapeutic Nanomedicine.

Jinmyoung Joo

Adv Exp Med Biol 2021 ;1310:401-447

Department of Biomedical Engineering, Ulsan National Institute of Science and Technology, Ulsan, South Korea.

Nanotechnology has been widely applied to medical interventions for prevention, diagnostics, and therapeutics of diseases, and the application of nanotechnology for medical purposes, which is called as a term "nanomedicine" has received tremendous attention. In particular, the design and development of nanoparticle for biosensors have received a great deal of attention, since those are most impactful area of clinical translation showing potential breakthrough in early diagnosis of diseases such as cancers and infections. For example, the nanoparticles that have intrinsic unique features such as magnetic responsive characteristics or photoluminescence can be utilized for noninvasive visualization of inner body. Read More

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δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Ann Hematol 2021 Apr 8. Epub 2021 Apr 8.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand.

The δ-globin gene defects are clinically silent but interaction with β-thalassemia can lead to a misdiagnosis of β-thalassemia carrier. We report an extensive molecular characterization of δ-hemoglobinopathies in Thailand. Study was done on 32,108 subjects, encountered at the thalassemia screening. Read More

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