Faculty Bibliography

The sport of tennis involves unique nutritional demands for the physical and technical aspects of match play and training, as well as the nutritional challenges associated with extensive travel and a lengthy competition calendar. An expert group assembled by The International Tennis Federation, the Women's Tennis Association, and the Association of Tennis Professionals has produced a scientific review of current evidence to inform practical recommendations for high-performance tennis. The narrative summary considers the diversity within the tennis community, including male and female players, youth players, and wheelchair players. The Expert Group Statement addresses nine specific topics: (a) introduction to tennis; (b) physiological characteristics of tennis training and match play; (c) training nutrition; (d) body composition, low energy availability, and relative energy deficiency in sport; (e) match-day nutrition; (f) dietary supplements for tennis performance; (g) environmental and travel issues; (h) nutrition guidelines during periods of illness and injury rehabilitation; and (i) special population groups. The statement advocates for an evidence-based approach to nutrition in high-performance tennis and emphasizes a "food first" philosophy, prioritizing food over supplements to meet nutrient requirements effectively. In recognition of the benefits of sound nutrition, strategies in supporting health and performance over a player's career, academies, national federations, and international organizations are encouraged to engage professionals with appropriate nutrition-related qualifications and professional registrations to support players effectively.

Non-invasive, continuous monitoring of carotid artery hemodynamics may provide valuable insights on cerebral blood perfusion (CBP). Near-infrared spectroscopy (NIRS) is a non-invasive modality that may be a good candidate for real-time carotid artery monitoring. We designed a wearable NIRS system to monitor the left and right radial and carotid arteries in 20 healthy subjects. The changes in total hemoglobin concentration (HbT) and tissue oxygen saturation (StO₂) in all 80 arteries were continuously monitored in response to changes in oxygen supply. Wilcoxon non-parametric equivalence testing was used to compare changes in the radial (reference) and carotid arteries. The system-derived HbT and StO₂ trends matched the expected physiological responses over time in the radial and carotid arteries. The mean peak-to-peak amplitude [uM] of HbT during sustained deep breathing was practically equivalent between the left radial (0.9 ± 0.8) and left carotid (1.6 ± 1.1) arteries (p = 0.01). The mean peak-to-peak amplitude [%] of StO₂ was practically equivalent between the left radial (0.3 ± 0.2) and left carotid (0.3 ± 0.2) arteries (p < 0.001) and the right radial (0.4 ± 0.5) and right carotid (0.5 ± 0.4) arteries (p = 0.001). These findings indicate that NIRS may be a good option for monitoring the carotid arteries to track changes in CBP.

BACKGROUND:Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by fragile bones and vascular fragility, increasing the risk of vessel dissection and potentially complicating endovascular intervention. The authors present the first case of cranial bypass in a patient with OI. OBSERVATIONS/METHODS:A 38-year-old male with OI type I presented with a symptomatic left internal carotid artery (ICA) occlusive dissection managed with endovascular revascularization and stenting. Follow-up surveillance imaging identified an incidental right ICA dissection, also treated with stenting. Four years later, the patient experienced new right hemispheric symptoms. He was found to have progressive right ICA dissection on best medical management. Following an unsuccessful restenting attempt, he underwent a successful double-barrel superficial temporal artery-to-middle cerebral artery (STA-MCA) bypass to restore cerebral perfusion with no perioperative complications. Six-month follow-up DSA confirmed a patent bypass with robust flow, and the patient remained asymptomatic 1 year postoperatively. LESSONS/CONCLUSIONS:STA-MCA bypass can serve as a viable and effective revascularization option in patients with OI, whose disease predisposes them to vascular dissection. In these high-risk patients, cranial bypass is a safe method for effective flow augmentation to hypoperfused brain regions when endovascular interventions fail. https://thejns.org/doi/10.3171/CASE25378.

RATIONALE/BACKGROUND:Hemiplegic migraine (HM) is a rare subtype of migraine characterized by complex aura and transient hemiparesis. It is infrequently associated with refractory focal epilepsy, and there are no previous reports of forced normalization (FN) in this context. This case highlights a novel clinical association and the diagnostic and therapeutic challenges it presents. PATIENT CONCERNS/METHODS:A 31-year-old right-handed woman presented with episodes of cognitive impairment following seizure control, as well as recurrent episodes of HM and prolonged focal seizures. She had a history of familial HM associated with CACNA1A and PNKD mutations. DIAGNOSES/METHODS:Genetic testing confirmed the presence of CACNA1A and PNKD mutations, consistent with familial HM. The patient was also diagnosed with focal refractory epilepsy and exhibited clinical and electroencephalographic features suggestive of FN. INTERVENTIONS/METHODS:The patient received various antiseizure medications, with adjustment of dosages and regimens in response to status epilepticus and evolving cognitive symptoms. Treatment was tailored to balance seizure control while minimizing adverse neuropsychiatric effects. OUTCOMES/RESULTS:Seizure control was partially achieved with adjustment of antiseizure medications; however, episodes of cognitive dysfunction persisted during electroencephalogram normalization periods, consistent with FN. Functional status improved gradually with individualized treatment, but neurological deficits and migraine persisted intermittently. LESSONS/CONCLUSIONS:This case illustrates a rare coexistence of familial HM, focal refractory epilepsy, and FN. It emphasizes the need for heightened clinical awareness of FN in similar complex neurogenetic disorders and highlights the importance of individualized pharmacological strategies.

Sex differences in hippocampal aging have been increasingly recognized, with females showing greater vulnerability to neurodegeneration, particularly after menopause. However, the underlying neurobiological mechanisms remain unclear, especially at the level of hippocampal subfields. Leveraging high-resolution T1-, T2-weighted, and multi-delay arterial spin labeling MRI from 650 adults in the Human Connectome Project-Aging dataset, we examined sex-specific alterations in hippocampal subfield volume, arterial transit time (ATT), and cerebral blood flow (CBF) across the adult lifespan. All hippocampal subfields showed age-related atrophy and ATT prolongation. An age × sex interaction effect on ATT was observed in CA1 and CA2, indicating that age-related increases in ATT were more pronounced in females than in males in these subfields. Moreover, females exhibited more pronounced hippocampal subfields CBF reductions with aging and atrophy, while males showed relatively preserved CBF, with an increase in subiculum perfusion. Furthermore, CA1 showed the lowest perfusion and the strongest association with atrophy among hippocampal subfields. To investigate the potential impact of menopausal hormonal changes on sex-specific patterns, we explored the hypothalamic structure and hemodynamic alterations during aging and their effects on the hippocampus, given that hypothalamus regulates gonadal hormone secretion through the hypothalamic-pituitary-gonadal axis. We found significant hypothalamic atrophy during aging in both sexes, accompanied by ATT prolongation exclusively in females, which was associated with hippocampal atrophy and impaired hemodynamics. Our study highlights the intricate interplay between hippocampal structure and vascular function, revealing sex- and subfield-specific aging trajectories. These findings provide a normative quantitative imaging reference to age-related neurodegenerative diseases such as Alzheimer's Disease.

Extensive neuroimaging research in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) has identified brain atrophy as a disease phenotype. While it is also related to a complex genetic architecture, the transition from genetic risk factors to brain vulnerabilities remains unclear. Using a population-based approach, we examined the associations between epilepsy-related polygenic risk for HS (PRS-HS) and brain structure in healthy developing children, assessed their relation to brain network architecture, and evaluated its correspondence with case-control findings in TLE-HS diagnosed patients relative to healthy individuals We used genome-wide genotyping and structural T1-weighted magnetic resonance imaging (MRI) of 3,826 neurotypical children from the Adolescent Brain Cognitive Development (ABCD) study. Surface-based linear models related PRS-HS to cortical thickness measures, and subsequently contextualized findings with structural and functional network architecture based on epicentre mapping approaches. Imaging-genetic associations were then correlated to atrophy and disease epicentres in 785 patients with TLE-HS relative to 1,512 healthy controls aggregated across multiple sites. Higher PRS-HS was associated with decreases in cortical thickness across temporo-parietal as well as fronto-central regions of neurotypical children. These imaging-genetic effects were anchored to the connectivity profiles of distinct functional and structural epicentres. Compared with disease-related alterations from a separate epilepsy cohort, regional and network correlates of PRS-HS strongly mirrored cortical atrophy and disease epicentres observed in patients with TLE-HS, and highly replicable across different studies. Findings were consistent when using statistical models controlling for spatial autocorrelations and robust to variations in analytic methods. Capitalizing on recent imaging-genetic initiatives, our study provides novel insights into the genetic underpinnings of structural alterations in TLE-HS, revealing common morphological and network pathways between genetic vulnerability and disease mechanisms. These signatures offer a foundation for early risk stratification and personalized interventions targeting genetic profiles in epilepsy.

We evaluated whether apolipoprotein E (APOE) genotype-guided slow titration of monoclonal antibodies reduced amyloid-related imaging abnormalities (ARIA) in Alzheimer's disease. We retrospectively analyzed ARIA incidence in 25 patients on aducanumab and 19 patients on lecanemab on a genotype-informed protocol in a private practice setting. ARIA-E and ARIA-H each occurred in 4% of the aducanumab group and 5% of the lecanemab group. Plaque clearance was achieved in 50% of evaluable aducanumab patients and 26.3% of lecanemab patients. Compared to clinical trial ARIA rates, our results suggest that individualized, genotype-informed titration improves safety although plaque clearance rates were less robust.

BACKGROUND AND OBJECTIVES/OBJECTIVE:-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function. METHODS:-containing 2q24.3 copy number variants (CNVs) were considered separately. We collected medical and developmental history from parents/caregivers and medical records. Adaptive function and behavior were characterized using functional classification system levels and Vineland Adaptive Behavior Scales-3 (VABS-3) Parent/Caregiver Form. We repeated analyses on individuals with variants known to result in gain-of-function (GOF, typically EO phenotypes) or loss-of-function (LOF, typically LO phenotypes). RESULTS:< 0.01). Analyses of individuals with confirmed GOF/LOF variants (n = 57) showed similar results to the EO/LO analyses. DISCUSSION/CONCLUSIONS:-related disorders is extremely broad. Phenotypic subgroups provide prognostic information and critically inform clinical trial design.

OBJECTIVES/OBJECTIVE:In mild traumatic brain injury, imaging biomarkers are needed to support clinical management. In four antecedent publications, we used two new (sodium and fingerprinting) and two established (spectroscopy and diffusion) MR techniques in a longitudinally followed patient cohort. Here we report final results and combine all data to determine which marker(s) from the four modalities offer the greatest utility for detecting injury and predicting outcomes. We also leverage the independent specificities offered by each modality to explore injury mechanisms. MATERIALS AND METHODS/METHODS:The longitudinal spectroscopy data were analysed to complete a full data set of proton (spectroscopy, fingerprinting, diffusion) and sodium MRI, acquired alongside symptomatic, cognitive, and functional assessments in 27 patients at 1, 3, and 12 months following injury. Twenty-three matched controls were scanned once. Testing for associations between nine MR markers and three outcome measures was standardized across the entire data set, and performed using Spearman correlations and logistic regression. RESULTS:from fingerprinting (marker of the cellular microenvironment). CONCLUSIONS:We identified independent, dynamic, metabolic and ionic changes, with choline and creatine from spectroscopy fulfilling the most criteria for a clinical biomarker.