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Pediatric neuromuscular channelopathies.
Handb Clin Neurol
August 2024
Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address:
Pediatric skeletal muscle channelopathies include a spectrum of conditions including nondystrophic myotonias and periodic paralyses. They are rare inherited conditions that can cause significant morbidity. They are characterized by episodic stiffness and weakness.
View Article and Find Full Text PDFThe impact of hyperkalemia on ICU admission and mortality: a retrospective study of Chinese emergency department data.
BMC Emerg Med
June 2024
Department of Emergency Medicine, Division of Life Sciences and Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Objective: This study assesses the influence of hyperkalemia on both disease severity and the risk of mortality among patients admitted to the emergency room.
Methods: This retrospective observational study utilized data from the Chinese Emergency Triage Assessment and Treatment database (CETAT, version 2.0), which was designed to evaluate and optimize management strategies for emergency room (ER) patients.
Potential medical impact of unrecognized hypokalemia due to hemolysis: a case series.
Clin Chem Lab Med
September 2024
Department of Emergency Medicine, Baylor College of Medicine, Houston, TX, USA.
Objectives: The destruction of red cells during blood collection or with the processing of the sample continues to occur at a high rate, especially among emergency department (ED) patients. This can produce pre-analytical laboratory errors, particularly for potassium. We determined the incidence of hemolyzed samples and discuss the potential medical impact for hypokalemic patients who potassium level is artificially normal (pseudoeukalemia).
View Article and Find Full Text PDFGenetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Orphanet J Rare Dis
April 2024
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, 450052, Zhengzhou, Henan, China.
Article Synopsis
- Primary periodic paralysis (PPP) is a genetic disorder leading to episodes of muscle weakness, categorized based on potassium levels during attacks; diagnosis relies on clinical symptoms and genetic testing.
- In a study of 37 Chinese patients, 59.5% had identified genetic variants, mainly in the SCN4A and CACNA1S genes, with comparable detection rates between gene panel testing and whole-exome sequencing.
- The findings highlight SCN4A variants as the primary cause of PPP in this cohort, revealing novel mutations and expanding the understanding of genetic causes of the disorder.
A Thyrotoxic Periodic Paralysis Case Study: From Weakness to Wellness.
Cureus
October 2023
Acute Medicine, University Hospitals of Leicester NHS Trust, Leicester, GBR.
Hypokalaemic periodic paralysis (HPP) is a rare disorder characterized by episodic attacks of muscle weakness and hypokalaemia. Numerous factors contributing to HPP have been identified, encompassing both hereditary and familial origins as well as acquired factors. In this context, we highlight thyrotoxicosis causing HPP.
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