Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Background: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences.

Results And Discussion: A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively.

High speed fast-ion D-alpha spectrometer for the NSTX-U tokamak.

Here, we present the design and first calibration results of a new single-channel Fast-Ion D-Alpha (FIDA) spectrometer to be employed at the National Spherical Torus Experiment Upgrade (NSTX-U). The Czerny-Turner-type spectrometer uses a custom-designed aspherical lens setup instead of mirrors and achieves excellent spectral resolution, with high photon throughput through a round-to-linear fiber bundle, and camera frame rates around 8.4 kHz.

(Key1-001) congenital disorders of glycosylation: Glycobiology at the bedside.

Congenital disorders of glycosylation (CDG) are a group of rare monogenic human disorders caused by defects in the genes encoding the proteins that generate, attach, and modify glycans, thus disrupting cellular glycosylation machinery. Over 200 CDG caused by disruptions of 189 different genes are currently known. The multi-system disease manifestations of the CDG disorders highlight the importance of glycosylation across the organ systems.

Associations Between Brain Metabolites Measured With MR Spectroscopy and Head Impacts in High School American Football Athletes.

Background: While changes in brain metabolites after injury have been reported, relationships between metabolite changes and head impacts are less characterized.

Purpose: To investigate alterations in neurochemistry in high school athletes as a function of head impacts, concussion, and the use of a jugular vein compression (JVC) collar.

Study Type: Prospective controlled trial.

Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1).

Glycosylphosphatidylinositols (GPIs) are a type of glycolipid responsible for anchoring many important proteins to the cell membrane surface. Defects in the synthesis of GPIs can lead to a group of multisystem disorders known as the inherited GPI deficiencies (IGDs). Homozygosity for the c.

Coagulation abnormalities and vascular complications are common in PGM1-CDG.

Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) is a rare genetic disorder caused by biallelic variants in the PGM1 gene, leading to the deficiency of the PGM1 enzyme. The most common clinical presentations include muscle involvement, failure to thrive, cleft palate, and cardiac involvement. Abnormal serum N-glycosylation, hypoglycemia, and liver function abnormalities including coagulation abnormalities are the most common laboratory abnormalities.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Introduction: Congenital disorders of glycosylation (CDG) are a continuously expanding group of monogenic disorders that disrupt glycoprotein and glycolipid biosynthesis, leading to multi-systemic manifestations. These disorders are categorized into various groups depending on which part of the glycosylation process is impaired. The cardiac manifestations in CDG can significantly differ, not only across different types but also among individuals with the same genetic cause of CDG.

Psychological Safety as an Enduring Resource Amid Constraints.

Objectives: While psychological safety is recognized as valuable in healthcare, its relationship to resource constraints is not well understood. We investigate whether psychological safety mitigates the negative impact of resource constraints on employees.

Methods: Leveraging longitudinal survey data collected from healthcare workers before and during the COVID-19 crisis ( = 27,240), we examine how baseline psychological safety relates to employee burnout and intent to stay over time, and then investigate this relationship relative to resource constraints (i.

Circadian regulation of macromolecular complex turnover and proteome renewal.

Although costly to maintain, protein homeostasis is indispensable for normal cellular function and long-term health. In mammalian cells and tissues, daily variation in global protein synthesis has been observed, but its utility and consequences for proteome integrity are not fully understood. Using several different pulse-labelling strategies, here we gain direct insight into the relationship between protein synthesis and abundance proteome-wide.

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG.

Speaking Up and Taking Action: Psychological Safety and Joint Problem-Solving Orientation in Safety Improvement.

Healthcare organizations face stubborn challenges in ensuring patient safety and mitigating clinician turnover. This paper aims to advance theory and research on patient safety by elucidating how the role of psychological safety in patient safety can be enhanced with joint problem-solving orientation (JPS). We hypothesized and tested for an interaction between JPS and psychological safety in relation to safety improvement, leveraging longitudinal survey data from a sample of 14,943 patient-facing healthcare workers.

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.

ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. The ALG3 enzyme catalyzes the first step of endoplasmic reticulum (ER) luminal glycan extension by adding mannose from Dol-P-Man to Dol-PP-ManGlcNAc (Man5) forming Dol-PP-Man6. Such glycan extension is the first and fastest cellular response to ER stress, which is deficient in ALG3-CDG.

Whole-brain mapping of increased manganese levels in welders and its association with exposure and motor function.

Although manganese (Mn) is a trace metal essential for humans, chronic exposure to Mn can cause accumulation of this metal ion in the brain leading to an increased risk of neurological and neurobehavioral health effects. This is a concern for welders exposed to Mn through welding fumes. While brain Mn accumulation in occupational settings has mostly been reported in the basal ganglia, several imaging studies also revealed elevated Mn in other brain areas.

Psychological safety and accountability in longitudinal integrated clerkships: a dual institution qualitative study.

Background: Psychological safety and accountability are frameworks to describe relationships in the workplace. Psychological safety is a shared belief by members of a team that it is safe to take interpersonal risks. Accountability refers to being challenged and expected to meet expectations and goals.

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.

Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.

We report a patient with an extremely rare, combined diagnosis of PMM2-CDG and hereditary fructose intolerance (HFI). By comparing with other patients, under-galactosylation was identified as a feature of HFI. Fructose/sorbitol/sucrose restriction was initiated right afterwards.

The Dynamics of Team Learning: Harmony and Rhythm in Teamwork Arrangements for Innovation.

Innovation teams must navigate inherent tensions between different learning activities to produce high levels of performance. Yet, we know little about how teams combine these activities-notably reflexive, experimental, vicarious, and contextual learning-most effectively over time. In this article, we integrate research on teamwork episodes with insights from music theory to develop a new theoretical perspective on team dynamics, which explains how team activities can produce harmony, dissonance, or rhythm in teamwork arrangements that lead to either positive or negative effects on overall performance.

A scoping review of smoking cessation pharmacogenetic studies to advance future research across racial, ethnic, and ancestral populations.

Abstinence rates among smokers attempting to quit remain low despite the wide availability and accessibility of pharmacological smoking cessation treatments. In addition, the prevalence of cessation attempts and abstinence differs by individual-level social factors such as race and ethnicity. Clinical treatment of nicotine dependence also continues to be challenged by individual-level variability in effectiveness to promote abstinence.

Tracer metabolomics reveals the role of aldose reductase in glycosylation.

Abnormal polyol metabolism is predominantly associated with diabetes, where excess glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol metabolism has been implicated in phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) and an AR inhibitor, epalrestat, proposed as a potential therapy. Considering that the PMM2 enzyme is not directly involved in polyol metabolism, the increased polyol production and epalrestat's therapeutic mechanism in PMM2-CDG remained elusive.