Search

Background: Serum total 25-hydroxyvitamin D (25[OH]D) and physical activity (PA) both play important roles in maternal–fetal health. However, a high prevalence of vitamin D and PA insufficiency has been observed in women of childbearing age. Active transportation may increase overall PA levels and potentially boost serum 25(OH)D levels. Methods: Data from the National Health and Nutrition Examination Survey between 2007 and 2014 were used. A total of 5601 women aged 18–49 years were included. Transportation PA (TPA) was quantified as metabolic equivalents of task and serum 25(OH)D levels was measured. Multivariable logistic regression models adjusted for potential confounders were conducted. Results: The corresponding adjusted odds ratios associated with vitamin D insufficiency (<50 nmol/L) were 1.09 (95% confidence interval, 0.87–1.37) for 1 to 499 MET minutes per week of TPA, 0.69 (0.52–0.91) for 500 to 1000 MET minutes per week of TPA, and 0.95 (0.72–1.26) for >1000 MET minutes per week of TPA, respectively, compared with no TPA. Using vitamin D deficiency (<30 nmol/L) as the outcome led to similar results. The association between TPA and serum 25(OH)D levels was more robust in high sedentary time. Conclusions: A moderate level of TPA is related to lower odds of suboptimal vitamin D status among women of childbearing age. [ABSTRACT FROM AUTHOR]

Objective: Epileptic spasms are a hallmark of severe seizure disorders. The neurophysiological mechanisms and the neuronal circuit(s) that generate these seizures are unresolved and are the focus of studies reported here. Methods: In the tetrodotoxin model, we used 16‐channel microarrays and microwires to record electrophysiological activity in neocortex and thalamus during spasms. Chemogenetic activation was used to examine the role of neocortical pyramidal cells in generating spasms. Comparisons were made to recordings from infantile spasm patients. Results: Current source density and simultaneous multiunit activity analyses indicate that the ictal events of spasms are initiated in infragranular cortical layers. A dramatic pause of neuronal activity was recorded immediately prior to the onset of spasms. This preictal pause is shown to share many features with the down states of slow wave sleep. In addition, the ensuing interictal up states of slow wave rhythms are more intense in epileptic than control animals and occasionally appear sufficient to initiate spasms. Chemogenetic activation of neocortical pyramidal cells supported these observations, as it increased slow oscillations and spasm numbers and clustering. Recordings also revealed a ramp‐up in the number of neocortical slow oscillations preceding spasms, which was also observed in infantile spasm patients. Interpretation: Our findings provide evidence that epileptic spasms can arise from the neocortex and reveal a previously unappreciated interplay between brain state physiology and spasm generation. The identification of neocortical up states as a mechanism capable of initiating epileptic spasms will likely provide new targets for interventional therapies. ANN NEUROL 2021;89:226–241 [ABSTRACT FROM AUTHOR]

Background: Perampanel (PER) is a newly developed antiseizure medication (ASM). This study aimed to determine the utilization of therapeutic drug monitoring (TDM) for PER in a real-world clinical setting and investigate the influence of concomitant use of ASMs on the plasma concentration profile of PER., Method: We analyzed data from the Chang Gung Research Database, which is the largest multi-institutional electronic medical records database in Taiwan. The main outcomes were the comparisons of PER plasma concentration and the ratio of concentration to the weight-adjusted dose (C/D; [ng/mL]/[mg/kg/d]) among patients received TDM of different clinical indication and among different ASM co-medication subgroups., Results: Overall, 88 plasma samples were collected from 66 epilepsy patients treated with PER. The majority of patients (77.3 %) underwent PER TDM owing to poorly controlled seizures. There was a trend toward a higher plasma concentration and C/D ratio in those suspected of having PER toxicity owing to adverse events than of other indications. The PER concentration exhibited dose linearity. The mean PER plasma concentrations in patients co-medicated with enzyme-inducing ASMs were significantly lower than those in the patients who were not prescribed enzyme-inducing or enzyme-inhibiting ASMs, and co-medication with carbamazepine (CBZ) resulted in a significant reduction in the PER concentration., Conclusion: PER concentration exhibited a linear regression relationship with PER dose, and the plasma concentration of the drug was highly susceptible to the drug's interactions with enzyme-inducing ASMs. TDM with clear indication could help determine the influence of ASMs used concomitantly on PER concentrations and guide clinical adjustments., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors. Published by Elsevier Ltd.)

Objectives: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN., Methods: Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were divided into classic and atypical groups by the age of onset. We compared the data on PKAN patients of Asian and Caucasian populations., Results: We found iron deposits in the globus pallidus in our Patient 1 and a heterozygous truncating mutation (c.1408insT) in Patient 2. Literature review shows that generalized dystonia and bulbar signs are more common in classic PKAN patients, whereas segmental dystonia and tremors are more specific to atypical ones. Asian patients have less complex presentations--lower prevalence of pyramidal signs, mental impairment, and parkinsonism--than Caucasians. D378G in exon 3 is the most frequent mutation (28%) in Asians., Conclusions: Our study demonstrates that the distribution of dystonia is the major distinction between subgroups of PKAN. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients.

Background: Periventricular nodular heterotopia (PNH) is a rare congenital anomaly of the brain presenting as nodular heterotopia along the paraventricular region. Ten cases of PNH complicated by aortic aneurysm have been reported in the literature, and 9 of them also had symptoms of Ehlers-Danlos syndrome (EDS). This study investigated the association of PNH and cardiovascular anomalies in Asians., Methods: Patients with a diagnosis of brain heterotopia on magnetic resonance imaging at Chang Gung Memorial Hospital between 1994 and 2010 were screened for both typical PNH and cardiovascular anomalies. The family members of the index cases were also evaluated., Results: One family (5 patients) and a sporadic case were found to have both typical PNH and cardiovascular anomalies. Two of them had aortic root aneurysm, one had aortic regurgitation, and one had minor valvular disease. Two patients had a history of seizures, but none of them had EDS., Conclusions: Clinical heterogeneity exists in the patients with PNH. Overlap in the symptoms of PNH, cardiovascular anomalies, aortic aneurysm, and EDS were reviewed. EDS is unusual in Asians with PNH. Aortic aneurysm and other valvular heart diseases are common cardiovascular anomalies in PNH patients.