Down syndrome, a common chromosome aneuploidy, has been associated with an increased incidence of cutaneous disorders. The simultaneous occurrence with Ehlers-Danlos syndrome (EDS) is rare. We report here the clinical case of a 19-year-old female patient with Down syndrome (trisomy 21) who was also affected by EDS type IV. She died from spontaneous bleeding due to rupture of nonaneurysmal abdominal aorta. Since the affected chromosomes in these two syndromes are different (21 and 2, respectively), the concomitant appearance of Down syndrome and EDS type IV in our patient, though clinically intriguing, most likely represents a co-occurrence. However, the possibility that a presently unknown link may exist between these syndromes cannot be ruled out.
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http://dx.doi.org/10.1097/00000441-200601000-00014 | DOI Listing |
Introduction: Impella CP is a percutaneous left ventricle assist device used in selected patients undergoing high-risk percutaneous coronary interventions (HR-PCI). To improve outcomes after Impella-supported HR-PCI, institutional Impella programs have been developed.
Objectives: We evaluated the association between the standardized periprocedural management algorithm and outcomes of patients undergoing HR-PCI in the national IMPELLA-PL Registry.
Front Artif Intell
December 2024
School of Medicine, University of Brasilia, Brasilia, Brazil.
In 2019, COVID-19 began one of the greatest public health challenges in history, reaching pandemic status the following year. Systems capable of predicting individuals at higher risk of progressing to severe forms of the disease could optimize the allocation and direction of resources. In this work, we evaluated the performance of different Machine Learning algorithms when predicting clinical outcomes of patients hospitalized with COVID-19, using clinical data from hospital admission alone.
View Article and Find Full Text PDFCurr J Neurol
April 2024
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Carpal tunnel syndrome (CTS) is a common peripheral nerve entrapment disorder that is diagnosed using clinical signs and symptoms and confirmed via nerve conduction studies (NCSs). While NCS is a semi-invasive procedure, magnetic resonance imaging (MRI) is a non-invasive diagnostic tool that detects macroscopic nerve abnormalities and evaluates a patient's surgical or medication treatment options. This study assessed magnetic resonance neurography (MRN)'s diagnostic and grading value by comparing it to electrodiagnostic studies in patients with CTS and healthy individuals.
View Article and Find Full Text PDFJ Vitreoretin Dis
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Neurology, Huashan Hospital, Fudan University and Institute of Neurology, Fudan University, National Center for Neurological Disorders, Shanghai, China.
Purpose: This study aimed to present clinical and immunological features in patients with neuroimmune complications of COVID-19 during Omicron wave in China.
Methods: Patients with neuroimmune complications associated with COVID-19 were retrospectively analyzed in Huashan Hospital from December 2022 to April 2023, during the widespread prevalence of Omicron variants in China. Demographic information, symptoms, electrophysiological findings, cerebrospinal fluid(CSF) test results and immunological markers, Magnetic Resonance Imaging(MRI) characteristics, treatment strategies and outcomes of these patients were reviewed and analyzed.
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