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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 PDFParents' awareness towards preventive and interceptive orthodontic treatment.
BMC Res Notes
January 2025
King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Objectives: This study aims to assess the awareness and acceptance of preventive and interceptive orthodontic treatment among Saudi perents.
Methods: The study used a 29-question questionnaire, covering parents' demographic data, parents' awareness of malocclusion and habits, and parents' acceptance of treatment. It included visuals of different malocclusions, normal occlusion, and specific habits.
The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson's model: a qualitative study.
BMC Nurs
January 2025
Department of Orthopedic, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Objective: This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies.
Methods: A phenomenological study involving semi-structured interviews with 20 OI caregivers at a tertiary centre for children from March to August 2021 was analyzed thematically, following Anderson's model.
Results: We identified eight themes in the data: 1)Regional disparities of OI management, 2)Big economic burden, 3)High-risk population, 4)Lack of health education, 5)Multiple treatments,6)Strict treatment indications,7)Disappointing therapeutic outcomes,8)Effective or ineffective treatment results.
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