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.

Challenges and opportunities for statistical power and biomarker identification arising from rhythmic variation in proteomics.

Time-of-day variation in the molecular profile of biofluids and tissues is a well-described phenomenon, but-especially for proteomics-is rarely considered in terms of the challenges this presents to reproducible biomarker identification. We provide a case study analysis of human circadian and ultradian rhythmicity in proteins, including in the complement and coagulation cascades and apolipoproteins, with PLG, CFAH, ZA2G and ITIH2 demonstrated as rhythmic for the first time. We also show that rhythmicity increases the risk of Type II errors due to the reduction in statistical power from increased variance, and that controlling for rhythmic time-of-day variation improves statistical power and reduces the chances of Type II errors.

Population-Based Analysis of the Risk of Mycobacterial Infections Associated With Immune Checkpoint Inhibitors.

In this population-based study, we examined the risk of nontuberculous mycobacterial disease associated with immune checkpoint inhibitors among people with cancer. Using a nested case-control design, we identified 184 cases and 714 matched controls; there was no significant association on conditional logistic regression (adjusted odds ratio, 0.51 [95% confidence interval, .

Assessing riparian functioning condition for improved ecosystem services: A case study of the Back Creek watershed (Virginia, USA).

Riparian functioning condition refers to a rating and description of the current ecological status of a reach of a riparian ecosystem in consideration of its potential hydrology, vegetation, and geomorphology. Reach rating options are Proper Functioning Condition (PFC), Functional-At-Risk (FAR), Non-Functional, and apparent or monitored trends. We assessed the functioning condition of flowing riverbank areas of Back Creek located in Virginia (USA) following a PFC protocol developed by the U.

Role of IPF genetic risk loci in post-COVID-19 lung abnormalities: a cohort study.

Introduction: Persistent lung abnormalities following COVID-19 infection are common. Similar parenchymal changes are observed in idiopathic pulmonary fibrosis (IPF). We investigated whether common genetic risk factors in IPF are associated with developing lung parenchymal abnormalities following severe COVID-19 disease.