小坂 仁

Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor and is expected to reduce seizure frequency not only for focal seizures and generalized tonic-clonic seizures (GTCS) but also for other seizure types. This study aimed to clarify the long-term therapeutic efficacy and tolerability of PER in patients with DEEs. We analyzed data regarding patients' background characteristics, medication retention, trends in seizure frequency, and adverse events obtained from 24 patients with DEEs who had been on PER treatment for 60 months. The retention rates were 62.5% and 46.9% at 12 and 60 months, respectively. At 60 months after PER initiation, the rate of patients with > 50% seizure reduction was 33.3%, 33.3%, 38.5%, 54.5%, 54.5%, and 36.4% among patients with atypical absence seizures, tonic seizures, focal seizures, GTCS, myoclonic seizures, and atonic seizures, respectively. The frequency of adverse events was 70.8%. PER showed long-term efficacy in various seizure types. PER is a promising treatment option for patients with DEEs.

We report a case of severe Aicardi-Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial calcification, cataracts, and hepatosplenomegaly. Furthermore, the patient exhibited profound intellectual impairment and died at 14 months due to aspiration pneumonia accompanied by interstitial lung abnormalities. The severity of the patient's symptoms underscores the critical role of the C-terminal region of RNase H2B.

It is difficult to differentiate between coronavirus disease 2019 (COVID-19) and influenza based on the symptoms. In the present study, a newly developed antigen rapid diagnostic test (Ag-RDT) called Panbio™ COVID-19/Flu A&B that can simultaneously detect severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza A/B virus was evaluated. Its accuracy was evaluated using 235 pairs of nasopharyngeal samples collected from patients with respiratory symptoms and fever (>37.5°C). Reverse transcription polymerase chain reaction was used as a reference method to evaluate the accuracy of the SARS-CoV-2 detection. We confirmed the accuracy of the developed Ag-RDT against the Omicron variant where the sensitivity and specificity were 94.8% and 100%, respectively. In addition, to identify the influenza A virus, a noninferiority test was conducted using a commercial Ag-RDT, which has a sensitivity and specificity in comparison with viral culture of 94.8% and 98.4%, respectively. The positive and negative predictive values for influenza A virus were 98.5% and 98.1%, respectively, for the Panbio COVID-19/Flu A&B test. The evaluation of this newly developed Ag-RDT using clinical samples suggests that it has a high efficacy in clinical settings.