IsolatesGeneticEpidemiologyGeneticsPhenotypesStrainsGenomicCharacteristicsPhenotypicPrevalenceBiologySubtypesTrialsIsolationAnalysesBiomarkersPatientsFrontiersDeletionsDifficileDiagnosisRetinalBiochemistryExpands the clinicalMutationsPhenotypeDifferent clinical outcomes1999ManifestationsPracticeDiagnosticStudyClassificationProcessesVirusesMetabolismAspectsTumorsAlterationsChronicCancer ResearchSyndrome
Isolates13
- Molecular characterization of pathogenicity locus (PaLoc) and tcdC genetic diversity among tcdABClostridioides difficile clinical isolates in Tehran, Iran. (physiciansweekly.com)
- We characterized the toxinotypes and the tcdC genotypes from a collection of Iranian clinical C. difficile tcdAB isolates with known ribotypes (RTs). (physiciansweekly.com)
- The present study demonstrates that the majority of clinical tcdAB isolates of C. difficile frequently harbor tcdC genetic variants. (physiciansweekly.com)
- Some isolates were submitted to full genomic characterization by whole-genome sequencing (Illumina MiSeq and MinIon), and in-vivo virulence studies using the Galleria mellonella model. (cardiff.ac.uk)
- Methods: A. baumannii isolates collected from patient's clinical cultures in two tertiary care hospitals in Malang and Manado were included. (ui.ac.id)
- Methods: A. baumannii isolates collected from patient{\textquoteright}s clinical cultures in two tertiary care hospitals in Malang and Manado were included. (ui.ac.id)
- The aim of the present study was to determine the clonal relatedness of clinical isolates and to elucidate the genetic basis of imipenem resistance. (biomedcentral.com)
- The presence of bla OXA-23 in 13% (11/83) and IS Aba1 linked bla OXA-66 in 79.5% (66/83) of clinical isolates was associated with high level imipenem resistance. (biomedcentral.com)
- Recovered isolates were sent to CDC for molecular typing and characterization. (cdc.gov)
- In this study, we aimed to investigate the epidemiology and molecular characteristics of S. dysenteriae isolates from cattle farms in Gansu, China. (researchsquare.com)
- Our analysis includes the antimicrobial resistance profiles, the molecular characterization of the mechanisms of resistance to fluoroquinolones, virulence gene profiles and the molecular characterization of S. dysenteriae isolates by pulsed-field gel electrophoresis (PFGE) and multilocus sequence typing (MLST). (researchsquare.com)
- Molecular characterization confirmed the homogeneity of both isolates. (uni-muenchen.de)
- Molecular typing of the isolates showed the clonal nature of 4 K. pneumoniae isolates. (who.int)
Genetic9
- Retrospective case-series METHODS: Twelve patients (ten families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric genetic eye clinics and underwent full clinical assessment including retinal imaging. (ed.ac.uk)
- Objective: To characterize the clinical phenotype and molecular genetic variations in patients with PROM1 variants. (ox.ac.uk)
- Main Outcomes and Measures: Results of ophthalmic examination, retinal imaging, and molecular genetic analysis by next-generation sequencing. (ox.ac.uk)
- Here we report the detailed clinical, neuroimaging and genetic characterization of 18 PBS patients from 15 unrelated families. (johnshopkins.edu)
- The genetic composition of brain tumor patients plays a significant role in determining the advantages and disadvantages of surgical procedures, making molecular classification crucial for the diagnosis and management of gliomas. (coco66.com)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. (seattlechildrens.org)
- Therefore, this review aims to address the prevalence and genetic characterization of ESBL-producing Enterobacterales in the Gulf Cooperation Council (GCC) countries. (frontiersin.org)
- With rapidly evolving clinical applications in sequencing of the human genome as well as the genomes of tumors, the traditional anatomic descriptions of cancer types will be supplemented by molecular classification based on tumor genetic aberrations. (cdc.gov)
- Antimicrobial susceptibility testing, molecular typing, characterization of ESBL-encoding genes and the genetic environment, conjugation experiments and plasmid analysis were carried out. (who.int)
Epidemiology3
- The aim of the project is to investigate the (molecular) epidemiology, clinical progression and molecular and immunological mechanisms of CHE. (bund.de)
- Sarcocystosis in Poikilothermic Animals Genetics , Phylogeny, and Molecular Epidemiology of Sarcocystis. (routledge.com)
- methods included molecular epidemiology and clinical studies, bioinformatic knowledge mining, pathway and network analyses, short-duration in vivo and in vitro bioassays, and quantitative structure activity relationship modeling. (cdc.gov)
Genetics3
- After graduating with a BSc in Genetics from the University of Edinburgh, Dr. Rahman completed a PhD in Molecular Biology at the Roslin Institute, University of Edinburgh under the supervision of Sir Ian Wilmut in 2007. (nottingham.ac.uk)
- The molecular biology and genetics of brain tumour cells grown as 3D cultures better resembles the biology of the patients' tumour, when compared to traditional 2D cultures. (nottingham.ac.uk)
- She provides inpatient and outpatient clinical services in biochemical genetics at Seattle Children's Hospital and at the University of Washington Medical Center. (seattlechildrens.org)
Phenotypes3
- Our study highlights the clinical variability, expands the clinical and biochemical phenotypes, and describes new genotype, which all are essential for diagnosing and managing patients with DDOST-CDG. (wustl.edu)
- Clinical phenotypes and molecular characterization of Hb H-Paksé disease. (ox.ac.uk)
- This approach enables correlation of tissue morphology and specific cell phenotypes with molecular images of tissue metabolism. (nih.gov)
Strains7
- Molecular evaluation revealed a degree of similarity among strains belonging to the same clonal complex. (bmj.com)
- Describe the molecular and microbiologic characteristics of C. difficile strains causing disease in the population under surveillance and describe changes in strain prevalence over time. (cdc.gov)
- Molecular determinants enabling the imipenem resistant strains to exhibit co-resistance to aminoglycosides and fluoroquinolones from this geographical region were delineated. (biomedcentral.com)
- This study describes the characterization by cell culture, PCR and phylogenetic analysis of HAdV strains originating from a small collection of clinical samples gathered between 2008 and 2009. (unicatt.it)
- Health facilities in the state should institute effective antimicrobial stewardship, intensify surveillance and screening of Staphylococcus aureus for MRSA strains to guard against dissemination of multidrug resistant strains in both hospital and community settings because of the clinical implications. (who.int)
- The 16S- rRNA gene polymerase chain reaction was performed for molecular characterization of isolated M. bovis strains . (bvsalud.org)
- This study complemented the lack of epidemiological knowledge of molecular characterization, comparative effectiveness and resistance trends of isolated M. bovis strains against commonly used antibiotics . (bvsalud.org)
Genomic3
- We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. (duke.edu)
- We have performed a comprehensive genomic, transcriptomic and proteomic analysis of a large ILC patient cohort and present here an integrated molecular portrait of ILC. (lu.se)
- By characterization of the genomic, transcriptional, and DNA methylation landscape in different lung cancer subgroups in both own and public cohorts we search for new molecular subgroups of potential clinical relevance, additional targets for synergistic treatment, prognostic and/or predictive markers of relapse or response to therapy, and a deepened understanding of the molecular pathogenesis. (lu.se)
Characteristics3
- We describe the clinical and molecular characteristics of three patients with de novo dup(15). (nih.gov)
- Clinical and outcome characteristics of children with adrenocortical tumors: a report from the International Pediatric Adrenocortical Tumor Registry. (oncolink.org)
- Biology, clinical characteristics, and management of adrenocortical tumors in children. (oncolink.org)
Phenotypic2
- To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. (duke.edu)
- ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. (seattlechildrens.org)
Prevalence2
- This study aimed to investigate the prevalence of fluoroquinolone resistance and associated molecular characterization of S. dysenteriae 1 isolated from calves. (researchsquare.com)
- Prevalence, molecular characterization and antibiogram of Mycoplasma bovis isolated from milk in Pakistan. (bvsalud.org)
Biology1
- Background: The Next Generation (NexGen) of Risk Assessment effort is a multiyear collaboration among several organizations evaluating new, potentially more efficient molecular, computational and systems biology approaches to risk assessment. (cdc.gov)
Subtypes3
- To address this issue, our research team at the BC Cancer Centre for Lymphoid Cancer (CLC) has developed a robust clinical classification assay, Lymph3Cx, which accurately distinguishes PMBCL from DLBCL subtypes based on gene expression of 58 genes using routinely produced formalin-fixed paraffin-embedded biopsies (Mottok et al. (bccrc.ca)
- For example, the 2015 annual report showed breast cancer incidence by molecular subtypes using tumor biomarkers for hormone receptor (HR) and human growth factor-neu receptor (HER2) expression. (cdc.gov)
- Lung cancer, the leading cause of cancer death, is divided into histological subtypes with large differences in molecular alterations, clinical presentation, and patient outcome. (lu.se)
Trials6
- Currently, we are collaborating with North American clinical trials groups to further validate the clinical utility of this assay for routine diagnostic purposes. (bccrc.ca)
- Current autophagy-modulating compounds in clinical trials are also summarized. (nature.com)
- Although the creation of drugs to cure tumors is crucial, only a meager percentage of glioma patients, less than 10%, join clinical trials, which frequently restrict participation based on molecular subcategories. (coco66.com)
- [3] The researchers aspire for DeepGlioma to serve as a driving force for timely enrollment in clinical trials. (coco66.com)
- The potential of swift techniques in molecular classification is enormous as it can revolutionize the design of clinical trials and introduce innovative treatments to patients. (coco66.com)
- Numerous unselected phase II clinical trials have evaluated molecularly targeted therapies in first-line, maintenance and second-line treatment of SCLC [ 3 , 9 - 12 ]. (biomedcentral.com)
Isolation1
- The present study was aimed for the isolation, molecular characterization and antibiogram determination of M. bovis from raw milk samples. (bvsalud.org)
Analyses2
- In contrast, the DeepGlioma system aims to churn out molecular analyses in less than two minutes, helping medical care providers to be more accurate in identifying the type of brain tumor. (coco66.com)
- In this study, we investigate the feasibility of undertaking focused molecular analyses on routine diagnostic biopsies in patients with SCLC. (biomedcentral.com)
Biomarkers2
Patients16
- Molecular investigations included candidate gene Sanger sequencing, whole-exome sequencing (WES) and whole-genome sequencing (WGS).RESULTS: All patients had reduced vision and nystagmus. (ed.ac.uk)
- Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. (biomedcentral.com)
- The main clinical features in the two reported patients include profound developmental delay, failure to thrive, and hypotonia. (wustl.edu)
- This prompted us to re-evaluate the molecular basis of a thalassaemia in other Thai patients with non-deletional types of Hb H disease. (ox.ac.uk)
- Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. (medlineplus.gov)
- Three hundred clinical samples were collected from male and female in and out-patients of all ages and processed using standard bacteriological methods. (who.int)
- [0] The system was tested on a group of more than 150 patients with diffuse glioma-the most common and deadly brain tumor-and was able to define the molecular subgroups of the patients as defined by the World Health Organization. (coco66.com)
- There is an urgent need to identify molecular signatures in small cell lung cancer (SCLC) that may select patients who are likely to respond to molecularly targeted therapies. (biomedcentral.com)
- 60 (57 %) patients had suitable tumour tissue for molecular testing. (biomedcentral.com)
- 25 patients were successfully evaluated for all six pre-defined molecular aberrations. (biomedcentral.com)
- Eleven patients failed all molecular analysis. (biomedcentral.com)
- The paucity of patients with sufficient tumour tissue, quality of DNA extracted and low frequency of aberrations detected indicate that alternative molecular characterisation approaches are necessary, such as the use of circulating plasma DNA in patients with SCLC. (biomedcentral.com)
- Molecular aberrations have been identified in patients with non-small cell lung cancer (NSCLC) over the past 10 years and revolutionised treatment strategies [ 13 ]. (biomedcentral.com)
- Recent studies have begun to unravel molecular aberrations present in patients with SCLC [ 2 , 14 - 18 ]. (biomedcentral.com)
- We describe the clinical course of two infected patients, one of whom died of severe pneumonia after successfully being weaned from ECMO. (uni-muenchen.de)
- 2001). Clinical and molecular characterization of 80 patients with 5p deletion: genotypephenotype correlation. (bvsalud.org)
Frontiers1
- She is the site principal investigator and lead of the natural history for the Frontiers in Congenital Disorders of Glycosylation Consortium, a member of the Rare Diseases Clinical Research Network. (seattlechildrens.org)
Deletions1
- Scholars@Duke publication: Investigation of NRXN1 deletions: clinical and molecular characterization. (duke.edu)
Difficile4
- European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Group for Clostridioides Difficile (ESGCD). (physiciansweekly.com)
- A case of CDI is defined as a positive C. difficile toxin assay or a positive C. difficile molecular assay (e.g. (cdc.gov)
- CDI cases are identified based on reports of positive C. difficile toxin assay or C. difficile nucleic acid amplification assay from all clinical, reference, and commercial laboratories that serve the population in the surveillance catchment areas. (cdc.gov)
- An incident case of Clostridioides difficile infection (CDI) was defined as a C. difficile -positive stool test (toxin or molecular assay) from a person ≥1 year old with no positive test in the prior 8 weeks. (cdc.gov)
Diagnosis8
- CONCLUSIONS: Molecular diagnosis has been achieved in seven of ten families investigated including a previously unrecognized association with LRP5. (ed.ac.uk)
- WGS enabled molecular diagnosis in three families after prior negative Sanger sequencing of the causative gene. (ed.ac.uk)
- However, variations observed in clinical features and histopathology have made accurate diagnosis of this disease challenging. (bccrc.ca)
- The only non-mutated proband presented atypical clinical and neuroimaging features, challenging the diagnosis of PBS. (johnshopkins.edu)
- [0] According to Hollon, hindrances in molecular diagnosis may lead to inadequate treatment for individuals with brain tumors, making surgical decision-making and the choice of chemoradiation regimens more complex. (coco66.com)
- This clinical study aims to improve the process of medical diagnosis and identify new human diseases. (bcm.edu)
- A clinical picture of muscular dystrophy, coupled with a preserved ambulatory status beyond age 16 years, is consistent with a diagnosis of BMD. (medscape.com)
- TBX5 genotyping has high sensitivity and specificity for Holt-Oram syndrome (HOS) if stringent diagnostic criteria are used in assigning the clinical diagnosis. (medscape.com)
Retinal1
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration. (ox.ac.uk)
Biochemistry2
- Brain Cancer Future Medicines Seminar - BSc Biochemistry and Molecular Medicine , Year 3 Advanced Biochemistry of Cancer module (2016-present). (nottingham.ac.uk)
- Cancer Chemotherapy - Pre-Clinical/Clinical ( BSc Biochemistry and Molecular Medicine , Year 3 Advanced Biochemistry of Cancer module (2015-present). (nottingham.ac.uk)
Expands the clinical1
- Conclusion Our study delineates the most common features of PPP2R5D -related neurodevelopmental disorders, expands the clinical and molecular spectrum and identifies genotype-phenotype correlations. (bmj.com)
Mutations1
- Mutations in CDH1 and in the PI3K pathway are the most frequent molecular alterations in ILC. (lu.se)
Phenotype1
Different clinical outcomes2
- The results should help tu explain the reasons for the different clinical outcomes of HEV infections in humans and also to identify immunological parameters, which can be used to estimate the prognosis of the disease. (bund.de)
- Using the somatic mutation rate and eIF4B protein level, we identified three groups with different clinical outcomes, including a group with extremely good prognosis. (lu.se)
19991
- A Consensus Conference Report (1999) Clinical indications for noninvasive positive pressure ventilation in chronic respiratory failure due to restrictive lung disease, COPD, and nocturnal hypoventilation. (springer.com)
Manifestations2
- Human adenoviruses (HAdVs) are common pathogens associated with a variety of clinical manifestations. (unicatt.it)
- The severity of the clinical manifestations of the cold agglutinins themselves varies from an inconsequential laboratory finding, in cases of the benign variety, to serious manifestations, such as acute hemolytic crises and Raynaud-type phenomena, in cases of the more malignant variety. (medscape.com)
Practice2
- This can hopefully translate in clinical practice to the development of better risk stratification tool for identifying high-risk individuals for early colorectal cancer screening, and identifying areas needed for further research to curb this rising trend. (wjgnet.com)
- Cancer surveillance has been crucial in informing policy and practice, as well as clinical and public health efforts to reduce the cancer burden. (cdc.gov)
Diagnostic1
- The typical clinical presentation as a large mass in the anterior mediastinum of children/youth with female predominance is a critical diagnostic component in PMBCL. (bccrc.ca)
Study3
- This Funding Opportunity Announcement (FOA) solicits Small Business Technology Transfer (STTR) grant applications from small business concerns (SBCs) that propose to develop new technologies, tools, and/or processes for the study of transient molecular complexes. (nih.gov)
- Awards will be used to create new technologies, tools, and/or processes that will help to study transient molecular complexes that are an integral part of normal cell physiology or that play a role in disease processes. (nih.gov)
- resistant S. aureus (VRSA) in clinical samples The study was approved by the Health Ethics impacted negatively on the efficacy of vancomycin Committee of the State Ministry of Health and the 6 leading to treatment failures. (who.int)
Classification1
- Based on its clinical and pathological features, it is recognized as a distinct entity by the current World Health Organization Classification. (bccrc.ca)
Processes1
- The molecular processes that drive the development of ILC are still largely unknown. (lu.se)
Viruses3
- We isolated 10 NII561-2000-related viruses, 14 HPeV-1, 16 HPeV-3, and 1 HPeV-4 of 41 HPeVs from various clinical samples collected in Niigata, Japan. (cdc.gov)
- Clinical symptoms of the persons infected with the NII561-2000-related viruses were infectious gastroenteritis, rash, upper respiratory tract infection, and paralysis, in addition to Reye syndrome in the 1-year-old girl. (cdc.gov)
- In a typical year, CDC performs whole genome sequencing on about 7,000 influenza viruses from original clinical samples collected through virologic surveillance. (cdc.gov)
Metabolism1
- Her research focuses on clinical aspects of inborn errors of metabolism, especially in CDGs and NGLY1-CDDG. (seattlechildrens.org)
Aspects1
- Molecular Aspects of Medicine. (lu.se)
Tumors1
- The researchers noted that molecular testing for brain tumors isn't widely available and may also take days or weeks to return results. (coco66.com)
Alterations1
- We provide a comprehensive overview of the molecular alterations driving ILC and have explored links with therapy response. (lu.se)
Chronic1
- Characterization of chronic hepatitis E in Germany: molecular. (bund.de)
Cancer Research1
- Key international collaborations include Johns Hopkins University, Mayo Clinic and University of Louvain, with a research highlight demonstrating a long-term survival benefit in orthotopic brain tumour models when combined chemotherapeutics are delivered at neurosurgery via a biodegradable paste ( Clinical Cancer Research 25 (16): 5094-5106, 2019). (nottingham.ac.uk)
Syndrome1
- Inpatient and outpatient medical records were reviewed for information on patient demographics, clinical syndrome, outcome of illness, and relevant healthcare exposures. (cdc.gov)