Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease.

GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.

Contrasting Retromer with a Newly Described Retriever in .

The tight regulation of protein composition within the plasma membranes of plant cells is crucial for the proper development of plants and for their ability to respond to a changing environment. Upon being endocytosed, integral membrane proteins can be secreted, sorted into multivesicular bodies/late endosomes, and degraded in the lytic vacuole, or recycled back to the plasma membrane to continue functioning. The evolutionarily conserved retromer complex has attracted the interest of plant cell biologists for over a decade as it has emerged as a key regulator of the trafficking of endocytosed integral plasma membrane proteins.

Bodyweight support alters the relationship between preferred walking speed and cost of transport.

Humans tend to select a preferred walking speed (PWS) that minimizes the metabolic energy consumed per distance traveled, i.e. the Cost of Transport (CoT).

CCDC22 and CCDC93, two potential retriever-interacting proteins, are required for root and root hair growth in Arabidopsis.

Endomembrane trafficking is essential for plant growth and often depends on a balance between secretory and endocytic pathways. VPS26C is a component of the retriever complex which has been shown to function in the recycling of integral plasma membrane proteins in human cell culture and is part of a core retriever complex in Arabidopsis that is required for root hair growth. In this work, we report a characterization of the Arabidopsis homologues of CCDC22 and CCDC93, two additional proteins required for retriever function in humans.

An Atypical Case of Prolonged COVID-19 Infection.

Immunocompromised patients with COVID-19 can have prolonged disease courses that require escalation in care to inpatient or ICU settings. We report a case of a prolonged, active COVID-19 infection in an immunocompromised 61-year-old female with a history of non-Hodgkin's lymphoma. During her hospitalization, her cycle thresholds (CT) continued to worsen despite clinical improvement.

Effect of neuroanatomy on corticomotor excitability during and after transcranial magnetic stimulation and intermittent theta burst stimulation.

Individual neuroanatomy can influence motor responses to transcranial magnetic stimulation (TMS) and corticomotor excitability after intermittent theta burst stimulation (iTBS). The purpose of this study was to examine the relationship between individual neuroanatomy and both TMS response measured using resting motor threshold (RMT) and iTBS measured using motor evoked potentials (MEPs) targeting the biceps brachii and first dorsal interosseus (FDI). Ten nonimpaired individuals completed sham-controlled iTBS sessions and underwent MRI, from which anatomically accurate head models were generated.

Hypoglycemia as a Manifestation of Shapiro Syndrome.

Shapiro syndrome is an extremely rare disorder of dysautonomia characterized by paroxysmal episodic hypothermia to below 95°F. Many patients with Shapiro syndrome improve with medical management, though a minority of cases are refractory to treatment. Our patient with adult-onset Shapiro syndrome is an atypical case.

Phage Cocktail Therapy: Multiple Ways to Suppress Pathogenicity.

Phage cocktails have emerged as precision tools for controlling plant bacterial diseases. Wang et al. now report that phage cocktails decreased the occurrence of tomato bacterial wilt disease efficiently by infecting and destroying bacterial pathogens, selecting phage-resistant but slow-growing pathogen strains, and fostering bacterial species that are antagonistic to the pathogens.

Borrowing from Historical Control Data in Cancer Drug Development: A Cautionary Tale and Practical Guidelines.

Some clinical trialists, especially those working in rare or pediatric disease, have suggested borrowing information from similar but already-completed clinical trials. This paper begins with a case study in which relying solely on historical control information would have erroneously resulted in concluding a significant treatment effect. We then attempt to catalog situations where borrowing historical information may or may not be advisable using a series of carefully designed simulation studies.

Nonadherence with Employer-Mandated Sleep Apnea Treatment and Increased Risk of Serious Truck Crashes.

Study Objectives: To evaluate the effect of an employer-mandated obstructive sleep apnea (OSA) program on the risk of serious preventable truck crashes.

Methods: Data are from the first large-scale, employer-mandated program to screen, diagnose, and monitor OSA treatment adherence in the US trucking industry. A retrospective analysis of cohorts was constructed: polysomnogram-diagnosed drivers (OSA positive n = 1,613, OSA negative n = 403) were matched to control drivers unlikely to have OSA (n = 2,016) on two factors affecting crash risk, experience-at-hire and length of job tenure; tenure was matched on the date of each diagnosed driver's polysomnogram.

Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.

Rationale: Diabetes is associated with increased mortality in cystic fibrosis. Aggressive screening and early institution of insulin treatment significantly reduced this risk over the period of 1992-2008.

Objectives: To determine if progressive improvement in cystic fibrosis-related diabetes (CFRD) mortality has continued since 2008, and examine associations with CFTR genotypes linked to pancreatic insufficiency and to sex.