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Obstacles to Early Diagnosis of Gaucher Disease.
Ther Clin Risk Manag
January 2025
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy.
View Article and Find Full Text PDFAdult phenotypes of genetic developmental and epileptic encephalopathies.
Brain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFAdult onset wilms tumor.
Radiol Case Rep
March 2025
Department of Radiology, Massachusetts General Hospital, Boston MA.
Wilms tumor (WT) is the most common primary renal malignancy in the pediatric population and has very good overall survival with contemporary treatment protocols. In contrast, WT in adults is extremely rare and is associated with a poorer prognosis. The clinical presentation and imaging features of WT in adults are nonspecific and overlap with other more common forms of renal cancer, often leading to a delay in diagnosis.
View Article and Find Full Text PDFEffects of exogenous insulin supplementation on lipid metabolism in peripartum obese dairy cows.
Front Vet Sci
January 2025
College of Veterinary Medicine, China Agricultural University, Beijing, China.
Cows with high body condition scores experience more severe negative energy balance (NEB) and undergo mobilization of more body fat during the peripartum period, leading to more production of nonesterified fatty acids (NEFA) and -hydroxybutyric acid (BHBA). Postpartum insulin secretion is lower, and insulin resistance is stronger in obese cows. Exogenous insulin supplementation has been hypothesized as a key approach for regulating NEFA in these cows.
View Article and Find Full Text PDFPatient Journey to Transthyretin Cardiac Amyloidosis Diagnosis　- A Japanese Claims Database Study.
Circ J
January 2025
Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine.
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure (HF) in older adults. Delayed ATTR-CM diagnosis may result in more advanced symptoms. This study describes the journey of Japanese patients with ATTR-CM.
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