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Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report
Published 2025-07-01Get full text
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A case report of bacterial canaliculitis caused by Ottowia massiliensis Sp.nov
Published 2025-04-01“…Due to its slow growth and challenging cultivation, it is easily overlooked in clinical microbiology laboratories. This case report is the first case of its pathogenicity. Case presentation This case report describes a case of canaliculitis caused by Ottowia massiliensis sp.nov. …”
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Myotonic Dystrophy Type 1 Associating Sensitive Polyneuropathy: a Case Report
Published 2020-03-01“…Conclusion: The diagnosis of DM can be established clinically if the patient has typical manifestations and positive family history. Genetic testing for CTG repeat expansion in the DMPK gene is the gold standard in diagnosing DM1. …”
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A or AB? Resolving the dilemma of weaker subgroup through serological evaluation: Reporting two cases from Uttarakhand
Published 2025-07-01“…Adsorption-elution procedure and salivary testing suggested the presence of a weaker B subgroup (Bel). …”
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How to Make Feedback More Effective? Qualitative Findings from Pilot Testing of an Audit and Feedback Report for Endoscopists
Published 2016-01-01“…In this study, we pilot-tested an endoscopist A/F report to elicit opinions about the proposed report’s usability, acceptability and usefulness, and implications for knowledge translation. …”
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Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?
Published 2025-01-01“…We report a case of a 4-month-old infant with severe genital malformation and a 46, XY karyotype. …”
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High sensitivity of HIV antibody screening tests may lead to longer time to diagnosis: a Case Report
Published 2025-05-01“…Divergent detection methodologies require distinct confirmatory testing algorithms, which significantly impact the time to HIV infection.Case presentationIn this report, we present three cases where the HIV-1 p24 antigen tested reactive, while the HIV-1 antibody remained non-reactive in a dual testing scenario—despite both the combined test and the colloidal gold immunochromatographic assay (GICA) for HIV-1 antibodies yielding reactive results. …”
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Polymer Nanogels with Albumin Reporting Interface Created Using RAFT Precipitation Polymerization for Disease Diagnosis and Food Testing
Published 2025-07-01“…Abstract An interface capable of recognizing and reporting target molecules is crucial for applications such as food testing, disease diagnosis, and drug delivery systems. …”
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A De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome—A Case Report
Published 2025-05-01“…Genetic testing revealed a de novo <i>PTEN</i> PV <i>c.1003C>T(p.Arg335X)</i>. …”
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Are Implicit Attitudes “Implicit” for their Holders? Testing GATA Construct Validity
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Challenging Diagnosis of Fahr's Disease Mimicking Parkinson's Disease: A Case Report
Published 2025-02-01Subjects: “…case report…”
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Single‐Cell Metabolic Labeling Probe for Diagnosing Tuberculous Meningitis: A Case Report
Published 2025-06-01Get full text
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Nontuberculous Mycobacterial Pneumonia Caused by Mycobacterium immunogenum: A Case Report and Literature Review
Published 2025-04-01“…Two sputum cultures tested positive for Mycobacterium. The mycobacterium biochip test identified M. abscessus and Mycobacterium gilvum, and whole-genome sequencing confirmed the identity as M. immunogenum. …”
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The patient-reported outcome measure for older people living with frailty receiving acute care (PROM-OPAC): field-testing and validation
Published 2024-10-01“…Healthcare knowledge, situational security, and physical and psychosocial function are important outcomes typically not collected. The use of patient-reported outcome measures (PROMs) could support these assessments. …”
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Anaphylaxis due to midazolam administered before induction of general anesthesia: a case report
Published 2025-06-01Get full text
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