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http://dx.doi.org/10.1111/bpa.13171 | DOI Listing |
Adv Ther
September 2025
Sanofi, Gentilly, France.
Introduction: No head-to-head studies comparing the efficacy of avalglucosidase alfa (AVA) with cipaglucosidase alfa + miglustat (Cipa+mig) have been conducted in patients with late-onset Pompe disease (LOPD). Two indirect treatment comparisons (ITCs) were conducted to estimate the effects of AVA versus Cipa+mig.
Methods: ITCs were conducted using simulated treatment comparisons (STCs), adjusting for differences in prognostic factors and treatment effect modifiers.
Front Genet
August 2025
Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 years. In addition, some patients develop cardiomyopathy and liver dysfunction.
View Article and Find Full Text PDFA 52-year-old Myanmar man presented with bilateral progressive painless asymmetrical wrist and finger drop in 1 year without any sensory and sphincter problems. He has hypochromic microcytic anemia diagnosed as Hemoglobin E disease before. However, a serial full blood count revealed thrombocytopenia and a drop in hemoglobin disproportionate to HbE disease.
View Article and Find Full Text PDFCureus
August 2025
General Surgery, Maidstone and Tunbridge Wells NHS Trust, Maidstone, GBR.
Background Neoadjuvant chemotherapy is often given before surgery in colorectal cancer to improve tumour resectability. However, its effects on skeletal muscle mass, which may influence post-operative recovery and functional outcomes, remain unclear. This study evaluates the impact of neoadjuvant chemotherapy on skeletal muscle mass in colorectal cancer patients undergoing curative surgery.
View Article and Find Full Text PDFCureus
August 2025
Department of Tuberculosis, Yerevan State Medical University After Mkhitar Heratsi, Yerevan, ARM.
Extrapulmonary tuberculosis (TB), particularly when it involves the central nervous system (CNS), remains a significant clinical challenge. Cerebral tuberculoma, though rare, can present with complex symptoms that overlap with other neurological conditions, making timely diagnosis difficult. The condition demands a multidisciplinary approach for accurate diagnosis and effective management, especially in patients with multiple comorbidities.
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