Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.

Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.

Evaluation of SNaPshot and Sanger sequencing for the detection of and mutations in a sample of Venezuelan patients with colorectal cancer.

Colorectal cancer (CRC) is the third most commonly occurring cancer in men and the second most commonly occurring cancer in women. The epidermal growth factor receptor (EGFR) is relevant in the development and progression of CRC, because it is part of multiple signaling pathways involved in processes of the cell cycle, their malfunction causes dysregulation and subsequently carcinogenesis. Consequently, therapies were developed with anti-EGFR monoclonal antibodies (MAbs) that improve the survival of patients with CRC.

Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.

GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.

Incidence of fall-from-height injuries and predictive factors for severity.

Context: The injuries caused by falls-from-height (FFH) are a significant public health concern. FFH is one of the most common causes of polytrauma. The injuries persist to be significant adverse events and a challenge regarding injury severity assessment to identify patients at high risk upon admission.

Ileal Predominance in Crohn's Disease Is Associated With Increased Intestinal Surgery and Biological Therapy Use, With Lower Treatment Persistence.

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.