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Hemophagocytic Lymphohistiocytosis Due to Ehrlichiosis: A Case Series.
HCA Healthc J Med
December 2024
Research Medical Center, Kansas City, MO.
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immunologic syndrome characterized by excessive inflammation and tissue injury due to uncontrolled activation of the phagocytic system. The underlying mechanism is a lack of downregulation of activated macrophages and lymphocytes by natural killer and T cells. Unfortunately, the diagnosis is often delayed or missed due to the rarity of the disease, decreased awareness, and clinical picture variability.
View Article and Find Full Text PDFTwo 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 PDFAutomated craniofacial biometry with 3D T2w fetal MRI.
PLOS Digit Health
December 2024
Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King's College London, St Thomas' Hospital, London, United Kingdom.
Objectives: Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.
Methods: A literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI.
Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFAnterior Cutaneous Nerve Entrapment Syndrome Presenting as Chronic Abdominal Pain.
Cureus
December 2024
Anesthesiology, Baylor Scott and White Allsaints, Fort Worth, USA.
Abdominal pain is one of the most common chief complaints that patients present with to healthcare facilities across specialties. Unfortunately for clinicians, the differential diagnosis for abdominal pain is vast. Abdominal pain can be broken down into two broad categories: visceral and non-visceral causes.
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