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Exploration of cognitive flexibility and emotion recognition in adolescents with eating disorders.
J Int Neuropsychol Soc
January 2025
Department of Psychiatry, Ankara University, Ankara, Turkey.
Objectives: This study compared cognitive flexibility (CF) and emotion recognition (ER) in adolescents with eating disorders (ED) to a healthy group.
Methods: Forty healthy individuals aged 12-18 years with no psychiatric diagnosis and 46 patients diagnosed with anorexia nervosa (AN), bulimia nervosa (BN), or binge eating disorder (BED) according to DSM-5 criteria participated. CF was assessed using the Cognitive Flexibility Scale (CFS), Stroop Test, and Berg Card Sorting Test (BCST), while ER was evaluated using the test of perception of affect via nonverbal cues.
Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFPregnancy-related chronic type A aortic dissection highlights the importance of thorough prenatal maternal examination.
J Cardiothorac Surg
January 2025
Semmelweis University Heart and Vascular Centre, Budapest, 1122, Hungary.
Background: Aortic dissection occurs rarely during pregnancy but carries a significantly high vital risk for both the mother and the fetus. Early diagnosis and treatment are critical for a successful outcome.
Case Presentation: A 32-year-old pregnant woman at 31 weeks of gestation began experiencing shortness of breath, chest pain, and palpitations, which were attributed to an anxiety disorder she had been previously diagnosed with.
Periprosthetic femoral fractures in minimally-invasive anterolateral short stem versus transgluteal straight stem cementless total hip arthroplasty: What are the differences in the femoral and pelvic morphology?
J Orthop Surg Res
January 2025
Department for Orthopedics and Traumatology, Kepler University Hospital GmbH, Krankenhausstrasse 9, 4020, Linz, Austria.
Background: The occurrence of periprosthetic femoral fractures (PFFs) in cementless total hip arthroplasty (THA) might be associated with the proximal femoral morphology and the pelvis. PFFs in short stem THA are associated with an increased Canal Flare Index. PFFs in straight stem THA show a decreased Canal Flare Index.
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