5,763 results match your criteria screening panels

Prospective experimental treatment of colorectal cancer patients based on organoid drug responses.

ESMO Open 2021 Apr 19;6(3):100103. Epub 2021 Apr 19.

Department of Molecular Oncology and Immunology, The Netherlands Cancer Institute, Amsterdam, The Netherlands; Oncode Institute, Utrecht, The Netherlands; Department of Gastrointestinal Oncology, The Netherlands Cancer Institute, Amsterdam, The Netherlands. Electronic address:

Background: Organoid technology has recently emerged as a powerful tool to assess drug sensitivity of individual patient tumors in vitro. Organoids may therefore represent a new avenue for precision medicine, as this circumvents many of the complexities associated with DNA- or transcriptional-profiling.

Materials And Methods: The SENSOR trial was a single-arm, single-center, prospective intervention trial to evaluate the feasibility of patient-derived organoids to allocate patients for treatment with off-label or investigational agents. Read More

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Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients.

Otol Neurotol 2021 Jan;42(1):180-187

*Department of Otolaryngology †Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.

Objectives: To review the current state of knowledge about the influence of specific genetic mutations that cause sensorineural hearing loss (SNHL) on cochlear implant (CI) functional outcomes, and how this knowledge may be integrated into clinical practice. A multistep and sequential population-based genetic algorithm suitable for the identification of congenital SNHL mutations before CI placement is also examined.

Data Sources, Study Selection: A review was performed of the English literature from 2000 to 2019 using PubMed regarding the influence of specific mutations on CI outcomes and the use of next-generation sequencing for genetic screening of CI patients. Read More

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January 2021

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Neurol Genet 2021 Apr 3;7(2):e568. Epub 2021 Mar 3.

New York University School of Medicine (J.-A.P., L.N.-K., H.K.), New York, NY; and Massachusetts General Hospital Research Institute (R.Y., D.G., S.S), Boston.

Objective: To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of congenital hereditary sensory and autonomic neuropathy with unrevealing conventional genetic testing.

Methods: We performed whole-exome sequencing (WES) in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel. Patients underwent a comprehensive phenotypic assessment including autonomic function testing, and neurologic and ophthalmologic examinations. Read More

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Longitudinally Extensive Transverse Myelitis: A Retrospective Study Differentiating Neuromyelitis Optica Spectrum Disorder From Other Etiologies.

Cureus 2021 Mar 18;13(3):e13968. Epub 2021 Mar 18.

Neurology, Institute of Medicine, Tribhuvan University Teaching Hospital, Kathmandu, NPL.

Background Longitudinally extensive transverse myelitis (LETM) is characterized by contiguous immune-mediated inflammatory lesion of the spinal cord extending more than three vertebral segments. Neuromyelitis optica spectrum disorder (NMOSD) is the most common and important cause of LETM. This study aims to evaluate the demographic profile, clinical presentations, neuroimaging features, laboratory parameters, and etiologies of LETM and differentiates NMOSD from other etiologies of LETM. Read More

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Peak Inspiratory Flow Rate in COPD: An Analysis of Clinical Trial and Real-World Data.

Int J Chron Obstruct Pulmon Dis 2021 12;16:933-943. Epub 2021 Apr 12.

Pulmonary Research, Institute of Southeast Michigan, Farmington Hills, MI, USA.

Background: The influence of peak inspiratory flow (PIF) on dose delivery from dry powder inhalers (DPIs) and association with treatment efficacy in patients with chronic obstructive pulmonary disease (COPD) has not been fully determined. In vitro studies have demonstrated adequate dose delivery through ELLIPTA DPI at PIF ≥30 L/min. This analysis of two clinical trials and a real-world population of COPD patients determined spirometric PIF distribution, and explored the relationship between PIF and outcomes in the trials. Read More

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Early diagnosis of HIV-1 and HIV-2 using cobas HIV-1/HIV-2 Qualitative, a novel qualitative nucleic acid amplification test for plasma, serum and dried blood spot specimens.

J Acquir Immune Defic Syndr 2021 Apr 19. Epub 2021 Apr 19.

Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; National Health Laboratory Services, Johannesburg, South Africa Labor Berlin - Charité Vivantes Services GmbH Roche Diagnostics International AG, Rotkreuz, Switzerland Roche Molecular Systems, Inc., Pleasanton, CA, USA Bioscientia Institut für Medizinische Diagnostik, Ingelheim, Germany.

Background: Nucleic acid amplification tests (NATs) minimise time from HIV infection to diagnosis, reducing transmission during acute HIV. NATs are especially useful for diagnosing HIV in children under 18 months, and discriminating between HIV-1 and HIV-2.

Methods: We evaluated the performance of the cobas HIV-1/HIV-2 Qualitative Test ("cobas HIV-1/2 Qual") for use on the on cobas 6800/8800 Systems. Read More

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Methylation as a critical epigenetic process during tumor progressions among Iranian population: an overview.

Genes Environ 2021 Apr 21;43(1):14. Epub 2021 Apr 21.

Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Cancer is one of the main health challenges and leading causes of deaths in the world. Various environmental and genetic risk factors are associated with tumorigenesis. Epigenetic deregulations are also important risk factors during tumor progression which are reversible transcriptional alterations without any genomic changes. Read More

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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.

J Med Genet 2021 Apr 20. Epub 2021 Apr 20.

North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.

Purpose: The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of meeting the diagnostic demand imposed by the vast array of different rare monogenic disorders. We have assessed a clinician-led and phenotype-based approach for virtual gene panel generation for analysis of targeted CES in patients with rare disease in a single institution. Read More

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Expression Signatures of Cisplatin- and Trametinib-Treated Early-Stage Medaka Melanomas.

G3 (Bethesda) 2019 Jul;9(7):2267-2276

Physiological Chemistry, Biocenter, University of Wuerzburg, 97074 Wuerzburg, Germany.

Small aquarium fish models provide useful systems not only for a better understanding of the molecular basis of many human diseases, but also for first-line screening to identify new drug candidates. For testing new chemical substances, current strategies mostly rely on easy to perform and efficient embryonic screens. Cancer, however, is a disease that develops mainly during juvenile and adult stage. Read More

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Functional testing for variant prioritization in a family with long QT syndrome.

Mol Genet Genomics 2021 Apr 19. Epub 2021 Apr 19.

Department of Pediatrics (Pediatric Critical Care, Pediatric Genomics Discovery Program), School of Medicine, Yale University, New Haven, CT, USA.

Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific targeted gene panels, but also increase the number of rare or novel genetic variants that may confound precise diagnostics. Here, we describe a functional testing approach used to interpret the results of whole exome sequencing (WES) in a family presenting with syncope and sudden death. Read More

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Using Deep Learning in a Monocentric Study to Characterize Maternal Immune Environment for Predicting Pregnancy Outcomes in the Recurrent Reproductive Failure Patients.

Front Immunol 2021 1;12:642167. Epub 2021 Apr 1.

Department of Pediatric and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

Recurrent reproductive failure (RRF), such as recurrent pregnancy loss and repeated implantation failure, is characterized by complex etiologies and particularly associated with diverse maternal factors. It is currently believed that RRF is closely associated with the maternal environment, which is, in turn, affected by complex immune factors. Without the use of automated tools, it is often difficult to assess the interaction and synergistic effects of the various immune factors on the pregnancy outcome. Read More

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Failure of IVIG in steroid-responsive autoimmune glial fibrillary acidic protein astrocytopathy: A case report.

Mult Scler Relat Disord 2021 Apr 4;51:102933. Epub 2021 Apr 4.

University of California Irvine (UCI), Department of Neurology, Irvine CA, United States.

Objective: To advocate for high-dose steroids, not intravenous immunoglobulins (IVIG), as first-line treatment for Anti-glial fibrillary acidic protein (GFAP) associated meningoencephalomyelitis.

Background: A novel IgG antibody against GFAP was associated with relapsing autoimmune meningoencephalomyelitis.

Design/methods: Here, we present an investigational case report to highlight continuing challenges in diagnosing and managing Anti-GFAP associated meningoencephalomyelitis. Read More

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Comprehensive Analysis of Multiple Cohort Datasets Deciphers the Utility of Germline Single Nucleotide Polymorphisms in Prostate Cancer Diagnosis.

Cancer Prev Res (Phila) 2021 Apr 17. Epub 2021 Apr 17.

Bioinformatics and Computer Science, Xavier University of Louisiana

Prostate cancer (PCa) susceptibility is a polygenic trait. We aimed to examine the controversial diagnostic utility of single nucleotide polymorphisms (SNPs) for PCa. We analyzed two datasets collected from Europeans and one from Africans. Read More

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A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.

Genome Biol 2021 Apr 16;22(1):111. Epub 2021 Apr 16.

Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.

Background: Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference samples having a suitably large number of pre-identified variants for properly assessing oncopanel assay analytical quality and performance. The FDA-led Sequencing and Quality Control Phase 2 (SEQC2) consortium analyze ten diverse cancer cell lines individually and their pool, termed Sample A, to develop a reference sample with suitably large numbers of coding positions with known (variant) positives and negatives for properly evaluating oncopanel analytical performance. Read More

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Validation of a methylated DNA marker panel for the nonendoscopic detection of Barrett's esophagus in a multi-site case-control study.

Gastrointest Endosc 2021 Apr 12. Epub 2021 Apr 12.

Division of Gastroenterology & Hepatology, Mayo Clinic, Rochester MN.

Background And Aims: We previously identified a 5 methylated DNA marker (MDM) panel for nonendoscopic Barrett's esophagus (BE) detection. In this study, we aimed to (1) recalibrate the performance of the 5 MDM marker panel using a simplified assay in a training cohort, (2) validate the panel in an independent test cohort, and (3) explore accuracy of an MDM panel with only 3 markers.

Methods: Participants were recruited from 3 medical centers. Read More

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Phase II validation study of the rK39 ELISA prototype for the diagnosis of canine visceral leishmaniasis in Brazil.

Cad Saude Publica 2021 7;37(3):e00041320. Epub 2021 Apr 7.

Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, Brasil.

Dogs are the main reservoirs in the domestic transmission cycle of visceral leishmaniasis, and the diagnosis is essential for the effectiveness of the control measures recommended by the Brazilian Ministry of Health. We assessed the diagnostic performance of the ELISA-Vetlisa/BIOCLIN prototype with serum samples from 200 dogs, in triplicate, including symptomatic, oligosymptomatic, asymptomatic, and healthy dogs, originated by two distinct panels (A and B) characterized by parasitological tests as the reference standard. In this study, the prototype kit showed a 99% sensitivity (95%CI: 94. 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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Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application.

PeerJ 2021 31;9:e10897. Epub 2021 Mar 31.

Center of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

Molecular profiling of tumor samples has acquired importance in cancer research, but currently also plays an important role in the clinical management of cancer patients. Rapid identification of genomic aberrations improves diagnosis, prognosis and effective therapy selection. This can be attributed mainly to the development of next-generation sequencing (NGS) methods, especially targeted DNA panels. Read More

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Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.

Leukemia 2021 Apr 13. Epub 2021 Apr 13.

Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.

The majority of studies assessing the contribution of pathogenic germline variants (PGVs) to cancer predisposition have focused on patients with single cancers. We analyzed 45 known cancer predisposition genes (CPGs) in germline samples of 202 patients with hematological malignancies (HMs) plus one or more other independent cancer managed at major tertiary medical centers on two different continents. This included 120 patients with therapy-related myeloid neoplasms (t-MNs), where the HM occurred after cytotoxic treatment for a first malignancy, and 82 patients with multiple cancers in which the HM was not preceded by cytotoxic therapy (MC-HM). 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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Validation of Differentially Expressed Immune Biomarkers in Latent and Active Tuberculosis by Real-Time PCR.

Front Immunol 2020 16;11:612564. Epub 2021 Mar 16.

Public Health England, Porton Down, Salisbury, Wiltshire, United Kingdom.

Tuberculosis (TB) remains a major global threat and diagnosis of active TB ((ATB) both extra-pulmonary (EPTB), pulmonary (PTB)) and latent TB (LTBI) infection remains challenging, particularly in high-burden countries which still rely heavily on conventional methods. Although molecular diagnostic methods are available, e.g. Read More

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Review of biomarker systems as an alternative for early diagnosis of ovarian carcinoma.

Clin Transl Oncol 2021 Apr 11. Epub 2021 Apr 11.

Department of Computer Science, Delhi Technological University, New Delhi, 110042, India.

Early diagnosis of ovarian carcinoma is bound to boost the long-term endurance rate of the patients. Most ovarian tumors happen post menopause when the ovaries have no vital operation and therefore irregular ovarian role causes no signs. According to Muinao T. Read More

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Circulating miR-21-5p and miR-126-3p: diagnostic, prognostic value, and multivariate analysis in non-small-cell lung cancer.

Mol Biol Rep 2021 Mar 10;48(3):2543-2552. Epub 2021 Apr 10.

Biochemistry Division of Chemistry Department, Faculty of Science, Menoufia University, Menoufia, Egypt.

One of the most recent of tumor molecular characterization approaches is the microRNA (miR) expression profile. No single marker is sufficiently accurate for clinical use. Numerous biomarkers panels were created for three main purposes: tumor subtype, classification and, early detection, and prediction of tumor responses to treatment and prognosis of patients. Read More

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Developments in the discovery and design of Protein Kinase D inhibitors.

ChemMedChem 2021 Apr 8. Epub 2021 Apr 8.

Katholieke Universiteit Leuven, Departement Chemie, Moleculair Design en Synthese, Celestijnenlaan 200F, box 2404, B-3001, Leuven, BELGIUM.

Protein kinase D (PKD) is a serine/threonine kinase family belonging to the Ca2+/calmodulin-dependent protein kinase group. Since its discovery two decades ago, many efforts have been put in elucidating PKD's structure, cellular role and functioning. The PKD family consists of three highly homologous isoforms: PKD1, PKD2 and PKD3. Read More

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Precision medicine for mood disorders: objective assessment, risk prediction, pharmacogenomics, and repurposed drugs.

Mol Psychiatry 2021 Apr 8. Epub 2021 Apr 8.

Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, USA.

Mood disorders (depression, bipolar disorders) are prevalent and disabling. They are also highly co-morbid with other psychiatric disorders. Currently there are no objective measures, such as blood tests, used in clinical practice, and available treatments do not work in everybody. Read More

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Diagnosis and Molecular Profiling of Lung Cancer by Percutaneous Ultrasound-Guided Biopsy of Superficial Metastatic Sites Is Safe and Highly Effective.

Respiration 2021 Apr 7:1-8. Epub 2021 Apr 7.

Interventional Pulmonology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.

Background: Diagnosis, staging, and molecular profiling of lung cancer are mostly carried out with bronchoscopy or CT-guided aspiration/biopsy. However, patients with locally advanced or advanced disease often harbor "superficial" metastases for which a percutaneous, ultrasound-assisted needle aspiration/biopsy (US-NAB) might represent an equally effective yet less invasive and costly alternative.

Patients And Methods: We reviewed a prospectively collected database of consecutive patients with known/suspected lung cancer who underwent a US-NAB of a suspected "superficial" metastasis. Read More

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Are Antibody Panels Under-Utilized in Movement Disorders Diagnosis? No.

Mov Disord Clin Pract 2021 Apr 24;8(3):347-349. Epub 2021 Mar 24.

Movement Disorders Unit, Neurology Service, Internal Medicine Department The Federal University of Minas Gerais Belo Horizonte Brazil.

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Are Antibody Panels Under-Utilized in Movement Disorders Diagnosis? Yes.

Bettina Balint

Mov Disord Clin Pract 2021 Apr 25;8(3):341-346. Epub 2021 Mar 25.

Department of Neurology University Hospital Heidelberg Heidelberg Germany.

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, and as Novel Panel for Pancreatic Cancer: A Bioinformatics Analysis and Experiments Validation.

Front Immunol 2021 18;12:649551. Epub 2021 Mar 18.

Laboratory of Molecular Biology, Henan Luoyang Orthopedic Hospital (Henan Provincial Orthopedic Hospital), Zhengzhou, China.

Pancreatic cancer is a lethal malignancy with a poor prognosis. This study aims to identify pancreatic cancer-related genes and develop a robust diagnostic model to detect this disease. Weighted gene co-expression network analysis (WGCNA) was used to determine potential hub genes for pancreatic cancer. Read More

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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Am J Hum Genet 2021 Mar 29. Epub 2021 Mar 29.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR 7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U 1258, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; USIAS University of Strasbourg Institute of Advanced study, 67000 Strasbourg, France. Electronic address:

Tandem repeats represent one of the most abundant class of variations in human genomes, which are polymorphic by nature and become highly unstable in a length-dependent manner. The expansion of repeat length across generations is a well-established process that results in human disorders mainly affecting the central nervous system. At least 50 disorders associated with expansion loci have been described to date, with half recognized only in the last ten years, as prior methodological difficulties limited their identification. Read More

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