Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Rheumatology"
DOI: 10.1007/s10067-020-05492-8
Abstract: The clinicians initially prefer to define patients with the systemic autoinflammatory disease (SAID)’s based on recommended clinical classification criteria; then, they confirm the diagnosis with genetic testing. We aimed to compare the initial phenotypic diagnoses… read more here.
Keywords: diagnosis; autoinflammatory diseases; clinical diagnostic; panel ... See more keywords
Automatic Decision Support for Clinical Diagnostic Literature Using Link Analysis in a Weighted Keyword Network
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Systems"
DOI: 10.1007/s10916-017-0876-3
Abstract: We present a novel approach to recommending articles from the medical literature that support clinical diagnostic decision-making, giving detailed descriptions of the associated ideas and principles. The specific goal is to retrieve biomedical articles that… read more here.
Keywords: decision; literature; analysis; decision support ... See more keywords
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-017-0423-4
Abstract: Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In… read more here.
Keywords: craniosynostosis clinical; genetic counseling; craniosynostosis; pathology ... See more keywords
Clinical Diagnostic Study of a Novel Injection Molded Swab for SARS-Cov-2 Testing
Sign Up to like & getrecommendations! Published in 2021 at "Infectious Diseases and Therapy"
DOI: 10.1007/s40121-020-00391-6
Abstract: Introduction The gold standard for COVID-19 diagnosis is currently a real-time reverse transcriptase polymerase chain reaction (RT-PCR) to detect SARS-CoV-2. This is most commonly performed on respiratory secretions obtained via a nasopharyngeal swab. Due to… read more here.
Keywords: novel injection; nasopharyngeal swab; injection molded; clinical diagnostic ... See more keywords
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13657
Abstract: Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from… read more here.
Keywords: exome sequencing; diagnostic exome; sequencing dystonia; clinical diagnostic ... See more keywords
Clinical diagnostic value of contrast‐enhanced ultrasonography in the diagnosis of cardiac masses: A pilot study
Sign Up to like & getrecommendations! Published in 2020 at "Echocardiography"
DOI: 10.1111/echo.14597
Abstract: To assess the qualitative and quantitative characteristics of suspected cardiac masses by contrast‐enhanced ultrasonography (CEUS) and to evaluate its usefulness. read more here.
Keywords: enhanced ultrasonography; clinical diagnostic; cardiac masses; contrast enhanced ... See more keywords
Dopaminergic imaging in degenerative parkinsonisms, an established clinical diagnostic tool.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neurochemistry"
DOI: 10.1111/jnc.15561
Abstract: Parkinson's disease (PD) and other neurodegenerative parkinsonisms are characterised by loss of striatal dopaminergic neurons. Dopamine functional deficits can be measured in vivo using positron emission tomography (PET) and single-photon emission computed tomography (SPECT) ligands… read more here.
Keywords: clinical diagnostic; parkinsonisms established; degenerative parkinsonisms; imaging degenerative ... See more keywords
Insights for clinical diagnostic indicators of virus and host in chronic hepatitis B infection
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Viral Hepatitis"
DOI: 10.1111/jvh.13260
Abstract: Covalently closed circular DNA (cccDNA), which is stably present in the nucleus of hepatocytes, is an important indicator for evaluating antiviral efficacy. Since cccDNA quantification requires an invasive procedure, serum biological markers that can effectively… read more here.
Keywords: insights clinical; hepatitis; clinical diagnostic; chronic hepatitis ... See more keywords
Proliferative leukoplakia: Proposed new clinical diagnostic criteria.
Sign Up to like & getrecommendations! Published in 2018 at "Oral diseases"
DOI: 10.1111/odi.12830
Abstract: OBJECTIVE We aimed to characterize proliferative verrucous leukoplakia (PVL) from a clinical and histopathological standpoint and suggest an updated classification. SUBJECTS AND METHODS Records of patients seen at three oral medicine centers with a clinical… read more here.
Keywords: proposed new; leukoplakia proposed; new clinical; clinical diagnostic ... See more keywords
Development and validation of a clinical diagnostic model for pregnant women with renal colic in the emergency department in China: a protocol for a retrospective cohort study
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Open"
DOI: 10.1136/bmjopen-2021-056510
Abstract: Introduction Urolithiasis affects many people throughout their lives. Among the maternal population, although the morbidity of acute urolithiasis in pregnant women is unremarkable, it is the leading cause of hospitalisation during pregnancy. There is no… read more here.
Keywords: regression; clinical diagnostic; emergency department; pregnant women ... See more keywords
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1-Antitrypsin Deficiency.
Sign Up to like & getrecommendations! Published in 2023 at "American journal of respiratory cell and molecular biology"
DOI: 10.1165/rcmb.2022-0470oc
Abstract: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed disorder associated with mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT). Severe AATD can manifest as pulmonary emphysema and progressive liver disease. Besides the most common pathogenic variants S… read more here.
Keywords: comprehensive clinical; diagnostic pipelines; alpha antitrypsin; clinical diagnostic ... See more keywords