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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFInborn errors of immunity (primary immunodeficiencies).
Allergy Asthma Clin Immunol
January 2025
Division of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.
Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. IEIs can be broadly classified as disorders of adaptive immunity (e.g.
View Article and Find Full Text PDFA relational approach to co-create Advance Care Planning with and for people living with dementia: a narrative study.
BMC Palliat Care
January 2025
School of Medicine, University of Dundee, Dundee, UK.
Background: Discussing Advance Care Planning (ACP) with people living with dementia (PwD) is challenging due to topic sensitivity, fluctuating mental capacity and symptom of forgetfulness. Given communication difficulties, the preferences and expectations expressed in any ACP may reflect family and healthcare professional perspectives rather than the PwD. Starting discussions early in the disease trajectory may avoid this, but many PwD may not be ready at this point for such discussions.
View Article and Find Full Text PDFThe Eagle Eyes: an Intervention Utilizing Visual Thinking Strategies to Enhance the Observation Skills of Medical Students.
BMC Med Educ
January 2025
Visual Thinking Strategies and an Independent Writer and Educator, Baltimore, MD, USA.
Background: Visual Thinking Strategies (VTS) is an evidence-based pedagogical approach that uses art analysis and structured inquiry to enhance observation, critical thinking, and teamwork, especially in medical training for clinical skills development. This study aimed to compare the short-term and delayed follow-up effects of integrating Visual Thinking Strategies and Visual Thinking Activity (VTA) tasks based on the PRISM Model with Observation Exercises (OE) on medical students' observation skills, including the number of observations, number of words used, and time spent describing observations.
Method: This pre- and post-test experimental study with a control group was conducted among first-year medical students at Gonabad University of Medical Sciences during the 2023-2024 academic year.
Implant failure of the Compress prosthesis: a case report.
J Med Case Rep
January 2025
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya University Hospital, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan.
Background: The Compress is designed to achieve bone formation and stability by applying pressure at the bone-implant interface, minimizing the likelihood of aseptic loosening, which is a complication of stem implants. Herein, we report two cases of implant failure using the Compress.
Case Presentation: Case 1 describes a 36 year-old Japanese man who underwent extraarticular tumor resection, Compress arthroplasty, and reconstruction with a gastrocnemius flap after preoperative chemotherapy for a secondary malignant giant cell tumor in the right distal femur.
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