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Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFThe Impact of Chemotherapy on the Nutritional Status of Breast Cancer Patients.
Cureus
December 2024
Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, PAK.
Background: Breast cancer is one of the most common cancers among Pakistani women. It is mostly diagnosed at stage 2, requiring chemotherapy in certain cases. Chemotherapy is of two types: adjuvant and neoadjuvant.
View Article and Find Full Text PDFBackground: Despite guideline recommendations, few institutions have implemented clinical pathways that incorporate frailty into routine decision-making for patients undergoing radical cystectomy (RC). This paper presents an integrated clinical pathway designed to address the needs of frail patients undergoing RC. The purpose of the study is to determine whether a multifaceted prevention programme that tailors interventions to the syndromic components of frailty can improve postoperative morbidity and recovery time for patients.
View Article and Find Full Text PDFMT-Keyboard: A Bayesian Model-assisted Interval Design to Account for Toxicity Grades and Types for Phase I Trials.
Stat Biopharm Res
July 2024
Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Conventionally, dose finding trials are based on dose-limiting toxicity (DLT) that only captures the most severe toxicities, e.g., treatment related grade 3 or higher toxicity according to the NCI Common Terminology Criteria for Adverse Events.
View Article and Find Full Text PDFIntestinal neutrophil extracellular traps promote gut barrier damage exacerbating endotoxaemia, systemic inflammation and progression of diabetic retinopathy in type 2 diabetes.
Diabetologia
January 2025
Department of Ophthalmology and Visual Sciences, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Aims/hypothesis: Within the small intestine, neutrophils play an integral role in preventing bacterial infection. Upon interaction with bacteria or bacteria-derived antigens, neutrophils initiate a multi-staged response of which the terminal stage is NETosis, formation of protease-decorated nuclear DNA into extracellular traps. NETosis has a great propensity to elicit ocular damage and has been associated with diabetic retinopathy and diabetic macular oedema (DME) progression.
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