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Case report: a case of AL amyloidosis with spontaneous giant retroperitoneal hematoma.
Int J Emerg Med
December 2024
Emergency Department, The State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Background: Systemic amyloidosis is a kind of clinical syndrome in which amyloid is deposited between the cells of various organs in the body, resulting in gradual failure of the function of the affected organs. Depending on the site of amyloid deposition, it may show various clinical symptoms of multiple system involvement.
Patient Concerns: A 44-years-old female with spontaneous giant retroperitoneal hematoma was admitted to the emergency department of Peking Union Medical College Hospital in Mar 2023.
Structural and functional determination of peptide versus small molecule ligand binding at the apelin receptor.
Nat Commun
December 2024
Experimental Medicine & Immunotherapeutics, University of Cambridge, Cambridge, UK.
We describe a structural and functional study of the G protein-coupled apelin receptor, which binds two endogenous peptide ligands, apelin and Elabela/Toddler (ELA), to regulate cardiovascular development and function. Characterisation of naturally occurring apelin receptor variants from the UK Genomics England 100,000 Genomes Project, and AlphaFold2 modelling, identifies T89 as important in the ELA binding site, and R168 as forming extensive interactions with the C-termini of both peptides. Base editing to introduce an R/H168 variant into human stem cell-derived cardiomyocytes demonstrates that this residue is critical for receptor binding and function.
View Article and Find Full Text PDFA cerebral clue in the stomach: Brain lesion leads to discovery of hidden gastric cancer.
Int J Surg Case Rep
December 2024
Department of Radio Oncology, School of Medicine Cancer Prevention Research Center Seyyed Al-Shohada Hospital Isfahan University of Medical Sciences, Iran. Electronic address:
Introduction And Importance: Brain metastases from gastric adenocarcinoma are exceptionally rare, comprising only 0.1-0.16 % of all brain metastases.
View Article and Find Full Text PDFUnravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.
Cerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
View Article and Find Full Text PDFPrognostic Value of Strain by Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy.
J Cardiovasc Dev Dis
December 2024
Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK.
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic disorder associated with an elevated risk of life-threatening arrhythmias and progressive ventricular impairment. Risk stratification is essential to prevent major adverse cardiac events (MACE). Our study aimed to investigate the incremental value of strain measured by two-dimensional speckle-tracking echocardiography in predicting MACE in ARVC patients compared to conventional echocardiographic parameters.
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