The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.
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http://dx.doi.org/10.1136/bcr-2023-256999 | DOI Listing |
Oxf Med Case Reports
December 2024
Department of Neurology, New Cross Hospital, Royal Wolverhampton NHS Trust, Wolverhampton Road, Heath Town, West Midlands, WV10 0QP, United Kingdom.
The leucine-rich glioma-inactivated protein 1 (LGI1) antibody-related autoimmune encephalitis can occur alone or in the setting of a malignancy and manifest with faciobrachial dystonic seizures (FBDS), cognitive decline, hyponatremia, and neuropsychiatric disorders. The importance of differentiating this entity from acute delirium cannot be overemphasized. This review provides a detailed account of a 71-year-old man with previous diagnosis of lung cancer who presented with subacute onset behavioural changes, urinary retention, and FBDS.
View Article and Find Full Text PDFPancreatology
December 2024
Department of Surgery, University of California Los Angeles, Los Angeles, CA, USA. Electronic address:
Background/objectives: Genetic variants in PRSS1 encoding human cationic trypsinogen are associated with hereditary pancreatitis. The clinically frequent variants exert their pathogenic effect by increasing intrapancreatic trypsin activity, while a distinct subset of variants causes disease via mutation-induced trypsinogen misfolding and endoplasmic reticulum (ER) stress. Here, we report a novel misfolding PRSS1 variant.
View Article and Find Full Text PDFInt J Biol Macromol
December 2024
Department of Tissue Engineering & Regenerative Medicine, School of Advanced Technologies in Medicine, Mazandaran University of Medical Sciences, Sari, Iran; Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran; Immunogenetics Research Center, Mazandaran University of Medical Sciences, Sari, Iran. Electronic address:
Regenerative medicine is one of the effective approaches for myocardial infarcted (MI) tissue due to the low capacity of heart for regeneration. However, cell therapy with local administration has shown poor cell retention in the targeted area and limited engraftment capacity at the intended location, resulting in inadequate tissue regeneration. The present study involves mesenchymal stem cell-derived exosomes and encapsulated cells in small and injectable calcium alginate microgels by a specialized microfluidic device to decrease inflammation and increase cell retention in the infarcted tissue.
View Article and Find Full Text PDFDisabil Rehabil Assist Technol
December 2024
College of Health and Life Sciences, Brunel University London, Uxbridge, UK.
Frame Running is an adapted community-based exercise option for people with moderate-to-severe walking impairments. This mixed-methods study aimed to examine the feasibility of 1) community-based Frame Running by young people with moderate-to-severe walking impairments and 2) conducting future studies on the impact of Frame Running on functional mobility and cardiometabolic disease risk factors. Weekly training sessions and data collection occurred in two sites.
View Article and Find Full Text PDFSupport Care Cancer
December 2024
Cochrane Taiwan, Taipei Medical University, Taipei, Taiwan.
Background: Effective education and awareness regarding breast cancer are critical. Traditional educational methods often fail to meet the diverse information needs of patients. Patients should be provided with tailored, accessible information to improve their retention and understanding of disease-related information.
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