Utano Hospital

ObjectivesMost patients with new-onset refractory status epilepticus (NORSE) subsequently develop drug-resistant epilepsy (DRE) with multiple seizure foci and are not the typical candidates for resective surgery. We report the first case of DRE developing after cryptogenic-NORSE (C-NORSE) that was successfully treated using deep brain stimulation targeting the anterior nucleus of the thalamus (ANT-DBS).MethodsA 52-year-old man developed C-NORSE at the age of 45 years and presented with sequelae of DRE and cognitive dysfunction despite anti-seizure medications and immunotherapy administration. Seizure semiology comprised palpitations, chills, and nausea, followed by impairment of awareness with oral automatism multiple times a day. Video-electroencephalogram monitoring (vEEG) showed bilateral independent electrographic seizures (ESz) in the fronto-temporal areas. He underwent ANT-DBS. Preoperative and postoperative vEEG recordings for 3 days were compared.ResultsPreoperative vEEG showed 11 clinical seizures correlated with ESz. The duration of ESz ranged from 55 to 213 s (median, 81 s). Three months after ANT-DBS stimulation, vEEG showed four subclinical ESz episodes lasting from 22 to 31 s (median, 25.5 s) (Mann–Whitney U test, p = 0.001). The patient had not developed an overt clinical seizure until the last follow-up at 9 months. No adverse events were observed during treatment.ConclusionANT-DBS is an effective treatment option for DRE after NORSE, particularly when the epileptogenic network is located in the temporal lobe. A detailed evaluation using vEEG is useful for identifying the epileptogenic foci and assessing therapeutic outcome. Immunomodulatory mechanisms via cytokines could play roles in the pathogenesis of development of DRE after NORSE and seizure suppression effect of ANT-DBS.

Anesthetic management in pregnant women requiring urgent non-obstetric surgery is particularly challenging in the presence of comorbidities such as HIV and obesity. This report outlines the perioperative approach adopted for a 26-year-old woman at 23 weeks of gestation with AIDS and an elevated body mass index (BMI) undergoing orthopedic surgery following elbow trauma. A supraclavicular brachial plexus block was successfully used for intraoperative anesthesia and postoperative analgesia, thus avoiding systemic medications and minimizing fetal exposure. This case exemplifies how regional anesthesia, combined with coordinated multidisciplinary care, can offer safe and effective management in high-risk pregnancies. Findings support the growing literature favoring individualized, minimally invasive anesthetic strategies, especially in immunocompromised patients.

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Abstract We conducted a Japanese GWAS for systemic sclerosis (SSc) comprising 1,428 cases and 112,599 controls, the largest Asian GWAS for SSc ever, and identified three novel signals. The lead SNP in FCGR/FCRL region had a strong effect size (OR 2.05, P = 4.9×10−11). The complete LD SNP, rs10917688, was found in a cis-regulatory element and a part of binding motifs for IRF8. IRF8 was a significant locus in the European GWAS and rs10917688 showed an association only in the presence of the risk allele of IRF8 in Japanese. rs10917688 was marked with H3K4me1 in primary B cells, and the heritability was enriched in active histone marks of primary B cells. A meta-analysis with the latest European GWAS found additional 30 significant loci including three novel signals. PRS constructed with the effect sizes of the meta-analysis indicated potential portability of genetic associations beyond populations (AUC: 0.593). The fitting of PRS was improved by further prioritizing the top 5% SNPs of IRF8 biding sites in B cells, underscoring common genetic architecture across populations and critical roles of B cells and IRF8 for SSc development.

This document presents a consensus on the diagnosis and classification of isolated cervical dystonia (iCD) with a review of proposed terminology. The International Parkinson and Movement Disorder Society Dystonia Study Group convened a panel of experts to review the main clinical and diagnostic issues related to iCD and to arrive at a consensus on diagnostic criteria and classification. These criteria are intended for use in clinical research, but also may be used to guide clinical practice. The benchmark is expert clinical observation and evaluation. The criteria aim to systematize the use of terminology as well as the diagnostic process, to make it reproducible across centers and applicable by expert and non-expert clinicians. Although motor abnormalities remain central, increasing recognition has been given to nonmotor manifestations, which are incorporated into the current criteria. Three iCD presentations are described in some detail: idiopathic (focal or segmental) iCD, genetic iCD, and acquired iCD. The relationship between iCD and isolated head tremor is also reviewed. Recognition of idiopathic iCD has two levels of certainty, definite or probable, supported by specific diagnostic criteria. Although a probable diagnosis is appropriate for clinical practice, a higher diagnostic level may be required for specific research studies. The consensus retains elements proven valuable in previous criteria and omits aspects that are no longer justified, thereby encapsulating diagnosis according to current knowledge. As understanding of iCD expands, these criteria will need continuous revision to accommodate new advances.

BackgroundSleep apnea headache is a major symptom accompanying obstructive sleep apnea (OSA), but relatively little evidence has been reported on the magnitude of its negative effects on patients or the evaluation of therapeutic effects. We quantitatively assessed sleep apnea headache using the Epworth sleepiness scale (ESS) and headache impact test (HIT)-6.MethodsThe first part of this study enrolled 86 patients (72 male; mean [± standard deviation] age 53.2 ± 13.8 years) who had been diagnosed with OSA by polysomnography in our sleep center and investigated the prevalence and characteristics of sleep apnea headache. The second part enrolled 21 patients (12 male; mean age, 47.5 ± 13.0 years) diagnosed with sleep apnea headache by polysomnography and/or peripheral arterial tonometry and evaluated the effects of OSA therapy on headache. Medical records including ESS, HIT-6, and polysomnographic data were retrospectively analyzed.ResultsThe prevalence of sleep apnea headache among OSA patients was 22.1%, and was higher in female (50.0%) than in male (16.7%). The proportion of N3 and HIT-6 score showed a significant negative correlation (Pearson’s R = -0.51, p < 0.05). In female, median apnea–hypopnea index (AHI) was significantly lower in patients with headache (26.1 /h [interquartile range 21.4–29.6 /h]) than in patients without (54.2 /h [41.3–73.9 /h], p < 0.05, Wilcoxon rank-sum test). HIT-6 and ESS scores improved from 56.4 ± 9.7 to 45.9 ± 8.4 and from 9.0 ± 4.4 to 5.3 ± 4.2 in patients with oral appliance (OA), and from 54.3 ± 10.7 to 44.6 ± 6.1 and from 10.0 ± 4.0 to 4.9 ± 2.9 with continuous positive airway pressure (CPAP). In patients with good CPAP adherence, these scores improved from 58.1 ± 10.8 to 44.0 ± 6.0 and from 9.6 ± 3.8 to 3.6 ± 1.7.ConclusionAmong patients with OSA, prevalence of sleep apnea headache was higher in female than in male. In female, headache was associated with relatively mild OSA. OA showed substantial effects on headache in mild to moderate OSA patients. CPAP adherence was important for improving the headache. HIT-6 score appears useful for the diagnosis and management of sleep apnea headache.

To investigate the clinical features of the two cases presenting neurological syndrome after receiving COVID-19 vaccination, who were diagnosed with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).

All the available botulinum type A neurotoxins for clinical uses are of A1 subtype. We developed a subtype A2 low molecular weight (150kD) neurotoxin (A2NTX), with less spread and faster entry into the motor nerve terminal than A1 in vitro and in vivo. Preliminary clinical studies showed its efficacy superior to A1 toxins. We conducted an open study exploring its safety and tolerability profile in comparison with A1LL (onabotulinumtoxinA) and low molecular weight (150kD) A1 neurotoxin (A1NTX). Those who had been using A1LL (n=90; 50-360 mouse LD50 units) or A1NTX (n=30; 50-580 units) were switched to A2NTX (n=120; 25-600 units) from 2010 till 2018 (number of sessions ~ 27, cumulative doses ~11,640 units per patient). Adverse events for A2NTX included weakness (n=1, ascribed to alcoholic polyneuropathy), dysphagia (1), local weakness (4), spread to other muscles (1), whereas those for A1LL or A1NTX comprised weakness (n=2, A1NTX), dysphagia (8), ptosis (6), local weakness (7) and spread to other muscles (15). After injections, 89 out of 120 patients preferred A2NTX to A1 for the successive sessions. The present study demonstrated that A2NTX had the clinical safety up to the dose of 500 units, and was well tolerated compared to A1 toxins.