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Cognitive Fluctuations in a Rare Disease Population: Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals with Phenylketonuria.
JMIR Form Res
March 2025
McLean Hospital, Harvard Medical School, 115 Mill Street, South Belknap, Belmont, US.
Background: Phenylketonuria (PKU) is a rare, hereditary disease that causes disruption in phenylalanine (Phe) metabolism. Despite early intervention, individuals with PKU may have difficulty in several different cognitive domains, including verbal fluency, processing speed, and executive functioning.
Objective: The overarching goal of the Evaluating Fluctuations in Cognitive and Speech Characteristics in Phenylketonuria study (CSP Study) is to characterize the relationships among cognition, speech, mood, and blood-based biomarkers (Phe, Tyr) in individuals with early treated PKU.
Aortic endograft infection after thoracic endovascular aortic repair: two case reports and literature review.
Front Cardiovasc Med
February 2025
Center of Infectious Disease and Pathogen Biology, Department of Infectious Diseases, The First Hospital of Jilin University, Changchun, China.
With the maturity of thoracic endovascular aortic repair (TEVAR) technology and its increasing application in clinical practice, complications and long-term management after TEVAR have become issues of concern. Here, we report two cases of TEVAR for thoracic aortic dissection. One patient developed recurrent fever 6 years after TEVAR and underwent multiple courses of antibiotic therapy with a poor response.
View Article and Find Full Text PDFAn Unusual Presentation of Subcutaneous Inguinal Hematoma Mimicking Ovarian Torsion: A Case Report.
HCA Healthc J Med
February 2025
Texas College of Osteopathic Medicine, Forth Worth, Texas.
Background: Ovarian or adnexal torsions occur when an ovary rotates around one of the supporting ligaments, often the infundibulopelvic (IP) ligament. This rotation can cause the blood flow to the ovary to be hindered, and this decrease in perfusion can often present as adnexal pain, nausea, and vomiting. A significant risk factor for developing an ovarian torsion is the presence of an ovarian mass, such as a cyst.
View Article and Find Full Text PDFDifferences in Radiological and Pathological Findings by ANCA-Subtype in ANCA-Positive Idiopathic Interstitial Pneumonias.
Clin Respir J
March 2025
Department of Respiratory Medicine, Toho University Graduate School of Medicine, Ōta, Japan.
Introduction: Anti-neutrophil cytoplasmic antibody (ANCA) seropositivity strongly correlates to ANCA-associated vasculitis. Patients with idiopathic interstitial pneumonias (IIPs) without systemic vasculitis are sometimes ANCA-positive. Radiological and pathological differences between patients with myeloperoxidase (MPO)-ANCA-positive and those with proteinase 3 (PR3)-ANCA-positive IIPs remain unclear.
View Article and Find Full Text PDFTwo-stage ankle arthrodesis using the induced membrane technique for pyogenic arthritis: a case report.
J Med Case Rep
March 2025
Department of Orthopaedic Surgery, Teikyo University School of Medicine, 2-11-1, Kaga, Itabashi, Tokyo, 173-8605, Japan.
Background: Ankle arthrodesis is the most frequently performed salvage procedure for pyogenic arthritis. However, its failed fusion rate of approximately 15% has been considered problematic. Herein, we present a case of pyogenic ankle arthritis successfully treated via a two-stage surgical procedure on the basis of the induced membrane technique.
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