Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1388
Abstract: Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. read more here.
Keywords: gabaa receptor; receptor subunit; variants gabaa; identified patients ... See more keywords
The Correlation Between DPYD*9A(c.85T>C) Genotype and Dihydropyrimidine Dehydrogenase Deficiency Phenotype in Patients With Gastrointestinal Malignancies Treated With Fluoropyrimidines
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqz112.056
Abstract: The correlation between DPYD*9A (c.85T>C) genotype and dihydropyrimidine dehydrogenase (DPD) deficiency phenotype is controversial. In a cohort of 28 patients, DPYD*9A was the most commonly diagnosed variant (46%) and there was a noticeable genotype-phenotype correlation.… read more here.
Keywords: phenotype; dpyd; correlation dpyd; genotype ... See more keywords
170. Acute Flaccid Myelitis: Patient Characteristics and Prospective Follow-up Study at Children’s National Hospital, 2013–2019
Sign Up to like & getrecommendations! Published in 2020 at "Open Forum Infectious Diseases"
DOI: 10.1093/ofid/ofaa439.480
Abstract: Acute Flaccid Myelitis (AFM), diagnosed almost exclusively in children, is characterized by sudden onset flaccid weakness in one or more extremities with distinct gray matter spinal cord lesions on magnetic resonance imaging (MRI), with or… read more here.
Keywords: national hospital; acute flaccid; identified patients; flaccid ... See more keywords
FRI0232 Ultrasonographic features of gouty dactylitis of the hands
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.7070
Abstract: Background Dactylitis is a manifestation of gout that can occur on debut or throughout the course of the disease, although it is usually considered a sign of chronicity or a hallmark of long-term disease. Classically,… read more here.
Keywords: gouty dactylitis; ultrasonographic features; dactylitis; dactylitis hands ... See more keywords
Comparison of Factors Identified by Patients and Physicians Associated with Hospital Readmission (COMPARE2)
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DOI: 10.14423/smj.0000000000000959
Abstract: Objective Factors contributing to hospital readmission have rarely been sought from the patient perspective. Furthermore, it is unclear how patients and physicians compare in identifying factors contributing to readmission. The objective of the study was… read more here.
Keywords: identified patients; factors contributing; hospital readmission; readmission ... See more keywords
Temporary Perineal Urethrostomy During Holmium Laser Enucleation of the Prostate (HoLEP)
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Surgery Case Reports"
DOI: 10.31487/j.ijscr.2020.02.04
Abstract: Purpose: To characterize the role of perineal urethrostomy in patients undergoing HoLEP for BPH symptom relief. Methods: We identified all patients who required the creation of a perineal urethrostomy from a prospectively maintained institutional database… read more here.
Keywords: prostate; holep; perineal urethrostomy; identified patients ... See more keywords
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
Sign Up to like & getrecommendations! Published in 2022 at "Haematologica"
DOI: 10.3324/haematol.2022.281698
Abstract: Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a unique European… read more here.
Keywords: patients erythrocytosis; genetic variants; erythrocytosis; identified patients ... See more keywords
Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows
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DOI: 10.3390/jpm12111896
Abstract: Purpose: To assess the qualitative relationship between liquid biopsy and conventional tissue biopsy. As a secondary target, we evaluated the relationship between the liquid biopsy results and the T stage, N stage, M stage, and… read more here.
Keywords: lung cancer; found patients; identified patients; biopsy ... See more keywords