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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFEffect of feedback-integrated reflection, on deep learning of undergraduate medical students in a clinical setting.
BMC Med Educ
January 2025
Riphah international university, Rawalpindi, Pakistan.
Background: Reflection fosters self-regulated learning by enabling learners to critically evaluate their performance, identify gaps, and make plans to improve. Feedback, in turn, provides external insights that complement reflection, helping learners recognize their strengths and weaknesses, adjust their learning strategies, and enhance clinical reasoning and decision-making skills. However, reflection alone may not produce the desirable effects unless coupled with feedback.
View Article and Find Full Text PDFArterial Input Function Dispersal on Acute Brain CT Perfusion Scan in Patients With Acute Stroke and an Intracardiac Thrombus.
Neurology
February 2025
Department of Neurology, John Hunter Hospital, Newcastle, Australia.
Article Synopsis
- Hyperacute cardiac CT is more effective than transthoracic echocardiography in detecting intracardiac thrombus, but its routine use is limited due to costs and risks.
- A study of 1,136 ischemic stroke or TIA patients found that longer arterial input function (AIF) dispersal times correlate with the presence of thrombus and worse outcomes, with a specific cutoff of 33 seconds indicating higher risk.
- The findings support using AIF dispersal measurements to help identify patients who may benefit from cardiac imaging, potentially optimizing resource use in stroke management.
Evaluation of three diagnostic algorithms to reduce normal scan rates, radiation exposure and costs in patients with suspected chronic coronary syndrome referred for 82Rb-Positron Emission Tomography (Rb-PET).
Open Heart
January 2025
Department of Cardiology, University Hospital Basel, Basel, Switzerland.
Background: The majority of functional ischemia tests in patients with suspected chronic coronary syndromes (CCS) yield normal results. Implementing gatekeepers for patient preselection, such as pretest probability (PTP) and/or coronary artery calcium score (CACS), could reduce the number of normal scan results, radiation exposure and costs. However, the efficacy and safety of these approaches remain unclear.
View Article and Find Full Text PDFThe Higher Positive Amyloid Deposition in Electrophysiologically Proven Idiopathic Carpal Tunnel Syndrome Patients.
J Hand Surg Asian Pac Vol
January 2025
Department of Orthopaedic Surgery, Kochi Medical School, Kochi University, Nankoku, Japan.
Carpal tunnel syndrome (CTS) due to amyloid deposition was reported to precede fatal cardiac amyloidosis by several years. Although nerve conduction study (NCS) supports CTS diagnosis, the incidence of positive amyloid deposition in electrophysiologically proven CTS is unclear. We retrospectively analysed the demographic data including age, gender, bilateral hand involvement, amyloid deposition and NCS results, of 111 consecutive CTS patients with postoperative symptom improvement (mean 71.
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