A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein‐1 antibody
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13326
Abstract: these cells were strongly positive for CD123, CD138, CD33 and myeloperoxidase, which are markers that are frequently expressed on leukaemia blast cells (Fig. 2b–d). A bone marrow biopsy confirmed the suspected diagnosis of AML (subtype… read more here.
Keywords: blast cells; phenotype patient; clinical phenotype; bearing newly ... See more keywords
Defining unique clinical hallmarks for immune checkpoint inhibitor-based therapies
Sign Up to like & getrecommendations! Published in 2022 at "Journal for Immunotherapy of Cancer"
DOI: 10.1136/jitc-2021-003024
Abstract: Introduction Immuno-oncology therapies, including immune checkpoint inhibitors (ICIs), have transformed cancer care and have brought into question whether classic oncology efficacy assessments adequately describe the distinctive responses observed with these agents. With more ICI-based therapies… read more here.
Keywords: oncology; based therapies; immune checkpoint; unique clinical ... See more keywords
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant
Sign Up to like & getrecommendations! Published in 2019 at "Case Reports in Medicine"
DOI: 10.1155/2019/4561761
Abstract: Partial trisomy 13 is a rare syndrome that usually culminates in death within the first six months of the infant's life. We present a rare case of partial trisomy 13q with exclusive clinical manifestations. The… read more here.
Keywords: trisomy; partial trisomy; unique clinical; trisomy 13q ... See more keywords
Unsupervised cluster analysis of patients with recovered left ventricular ejection fraction identifies unique clinical phenotypes
Sign Up to like & getrecommendations! Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0248317
Abstract: Background Patients with heart failure (HF) with recovered ejection fraction (HFrecEF) are a recently identified cohort that are phenotypically and biologically different from HFrEF and HFpEF patients. Whether there are unique phenotypes among HFrecEF patients… read more here.
Keywords: ejection fraction; clinical phenotypes; analysis; patients lvrecef ... See more keywords
Hyperargininemic Encephalopathy with Unique Clinical Presentation and Novel Genetic Mutations.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2020.05.535
Abstract: Hyperargininemia is a urea cycle disorder that has rarely been reported in adults. We present a case of arginase deficiency disorder in a 32-year man with metabolic encephalopathy. He presented with progressive limb spasticity, changes… read more here.
Keywords: presentation novel; encephalopathy unique; hyperargininemic encephalopathy; unique clinical ... See more keywords
Unique Clinical, Immune, and Genetic Signature in Patients with Borrelial Meningoradiculoneuritis
Sign Up to like & getrecommendations! Published in 2022 at "Emerging Infectious Diseases"
DOI: 10.3201/eid2804.211831
Abstract: This form of Lyme neuroborreliosis is a distinct clinical entity with specific signs and symptoms. read more here.
Keywords: clinical immune; genetic signature; immune genetic; unique clinical ... See more keywords