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http://dx.doi.org/10.12200/j.issn.1003-0034.2021.03.009 | DOI Listing |
Ophthalmic Physiol Opt
September 2025
Division of Occupational Therapy and Physical Therapy, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Purpose: Cerebral Visual Impairment (CVI) is the leading cause of paediatric visual impairment in developed countries. Earlier diagnosis provides access to early intervention, which may improve visual function, functional vision and developmental outcomes. The purpose of this study was to determine the age and timing of CVI diagnosis and the severity of CVI.
View Article and Find Full Text PDFGenet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Zhonghua Jie He He Hu Xi Za Zhi
September 2025
Neuromuscular diseases are often accompanied by various types of sleep-related breathing disorders, which can exacerbate the underlying condition and are associated with a poor prognosis. Early identification is essential, and interventions such as non-invasive ventilation, oxygen therapy, and respiratory rehabilitation should be initiated promptly to mitigate disease progression and improve outcomes. Nevertheless, the rates of missed and misdiagnosed cases remain common in clinical practice.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
September 2025
From the Department of Diagnostic Radiology (E.W., A.D., C.J.M., M.C., M.K.G.) and Department of Pathology (L.Y.B.), MD Anderson Cancer Center, Houston, TX, USA; Department of Radiology and Biomedical Imaging (L.T., J.M.J), Yale University, New Haven, CT, USA.
Background And Purpose: Brain imaging with MRI or CT is standard in screening for intracranial disease among ambulatory cancer patients. Although MRI offers greater sensitivity, CT is frequently employed due to its accessibility, affordability, and faster acquisition time. However, the necessity of routinely performing a non-contrast CT with the contrast-enhanced study is unknown.
View Article and Find Full Text PDFInt J Surg Case Rep
September 2025
Introduction: Duodenal injuries occur in significant number of patients after abdominal trauma. Though most, 75 %, occur after penetrating mechanism of injury the remaining occur after blunt trauma and these are the commonly missed cases unless high index of suspicion is maintained. Here we presented a case of isolated retroperitoneal duodenal perforation after blunt abdominal trauma with a delayed diagnosis and management.
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