Hand fine motor control in classic galactosemia.

Classic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose-1-P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include motor difficulties. The goal of this study was to characterize hand fine motor control deficit among children and adults with classic galactosemia (CG). Specifically, we used Neuroglyphics software to collect digital Archimedes spiral drawings on a touch screen from 57 volunteers with CG (cases) and 80 controls. Hand fine motor control was scored as root mean square (RMS) of spirals drawn relative to an idealized template. Presence of tremor was defined as a peak in periodicity of changes in drawing speed or direction in the 4-8 Hz range. We observed a highly significant difference (P < .001) in RMS scores between cases and controls, with almost 51% of cases showing at least 1 of 4 spirals scoring outside the 95th percentile for controls. The corresponding prevalence for controls was 10%. Similarly, more than 35% of cases, and almost 14% of controls, showed at least 1 of 4 spirals with a tremor amplitude above the 95th % cutoff for controls. Our results both confirm and extend what is known about hand fine motor control deficit among children and adults with CG and establish digital assessment as a useful approach to quantify this outcome.

A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.

Classic galactosemia (CG) is a potentially lethal inborn error of metabolism, if untreated, that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the middle enzyme of the Leloir pathway of galactose metabolism. While newborn screening and rapid dietary restriction of galactose prevent or resolve the potentially lethal acute symptoms of CG, by mid-childhood, most treated patients experience significant complications. The mechanisms underlying these long-term deficits remain unclear. Here we introduce a new GALT-null rat model of CG and demonstrate that these rats display cataracts, cognitive, motor, and growth phenotypes reminiscent of patients outcomes. We further apply the GALT-null rats to test how well blood biomarkers, typically followed in patients, reflect metabolic perturbations in other, more relevant tissues. Our results document that the relative levels of galactose metabolites seen in GALT deficiency differ widely by tissue and age, and that red blood cell Gal-1P, the marker most commonly followed in patients, shows no significant association with Gal-1P in other tissues. The work reported here establishes our outbred GALT-null rats as an effective model for at least four complications characteristic of CG, and sets the stage for future studies addressing mechanism and testing the efficacy of novel candidate interventions.

Latching Medical Students onto a Virtual Breastfeeding Elective during the COVID-19 Pandemic.

Objectives: To describe the implementation of a successful two-week virtual breastfeeding elective for medical students during the COVID-19 pandemic and characterize student demographics, objective knowledge, and perspectives on breastfeeding before and after the elective. Study Design: We adapted the Santa Rosa Kaiser Permanente Family Medicine breastfeeding residency curriculum to create a two-week virtual medical student elective using Kern's six steps of curriculum development and a competency-based education framework. Educational components included self-paced modules, shadowing experiences, and group didactics. Objective knowledge was assessed with multiple-choice tests before and after the elective compared using a paired t-test. Reflective writing pieces were qualitatively analyzed using the six phases of thematic analysis developed by Braun and Clarke. Results: From 2020 to 2023, 40 medical students completed the elective. Breastfeeding knowledge increased significantly from the pre-test 72% (95% CI: 52-92%) to post-test 91% (95% CI: 81-100%) (p < 0.001). Over 90% of students felt that learning objectives were met well or very well and agreed or strongly agreed that the elective increased their knowledge and confidence in providing anticipatory guidance to breastfeeding parents. Similar themes were shared across students' reflective writing pieces, with nearly 30% (n = 23) of the student essays addressing socio-cultural and racial differences in beliefs surrounding breastfeeding. Conclusion: A virtual breastfeeding curriculum for medical students is well-received by stakeholders (patients, lactation consultants, students, etc.) and improves breastfeeding knowledge and confidence. A virtual elective is an innovative and effective way to deliver breastfeeding education and can be used even when institutional breastfeeding or lactation support is unavailable.