Summary Objective GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy. In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome. Those reports suggest that GABRA1 mutations are associated with infantile epilepsy including early onset epileptic encephalopathies. In this study, we searched for GABRA1 mutations in patients with infantile epilepsy to investigate the phenotypic spectrum of GABRA1 mutations. Methods In total, 526 and 145 patients with infantile epilepsy were analyzed by whole‐exome sequencing and GABRA1‐targeted resequencing, respectively. Results We identified five de novo missense GABRA1 mutations in six unrelated patients. A p.R112Q mutation in the long extracellular N‐terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy. Four of these mutations have not been observed previously. Significance Our study suggests that de novo GABRA1 mutations can cause early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome.

We carried out serial nerve conduction studies in a patient with tetrodotoxication caused by ingesting pufferfish. Conduction velocities and amplitudes of muscle and sensory nerve action potentials were equally affected. Neither temporal dispersion nor focal conduction block occurred. The proximal (F wave) motor latencies were also prolonged. These abnormalities rapidly improved in parallel with clinical recovery and with the decrease in the urinary excretion of tetrodotoxin (TTX). These results indicate that TTX equally and reversibly affects myelinated nerve fibers throughout the entire length of the axon by lowering the conductance of sodium currents at nodes of Ranvier.

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Background Selection of test-negative controls takes less time and costs less than traditional control selection for evaluating vaccine effectiveness (VE). Here, rotavirus VE was evaluated using hospital controls and compared with test-negative controls to determine whether using the latter can substitute for the former. Methods We recorded gastroenteritis in children from 2 months to 2 years of age at six medical facilities in Saga City between January 4th and May 31st, 2014. Stools from all identified acute gastroenteritis patients were tested for rotavirus using immunochromatography. Rotavirus gastroenteritis (RVGE) cases had test-positive stool, whereas test-negative controls had gastroenteritis but no rotavirus infection; hospital controls were outpatients visiting the same facility for indications other than gastroenteritis. Vaccination status was verified by inspecting maternal and child health records, and demographic data were obtained from a questionnaire completed by the patients’ guardians or from the medical records. Unconditional logistic regression analysis was used to adjust for possible confounding factors. Results Sixty-four RVGE cases, 260 test-negative controls, and 589 hospital controls were enrolled. The characteristics of the two control groups, including RV vaccination history, were similar. The RVGE cases were more likely to have used daycare services than children from either of the two control groups. The VE against RVGE estimated using hospital controls was 86.6% (95% confidence interval [CI], 55.9–96.0%), very similar to the VE using test-negative controls (84.9% [95% CI, 49.6–95.5%]). Conclusions The estimated VE using test-negative controls and hospital controls is similar. Therefore, test-negative controls are considered appropriate for establishing VE.

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Rotavirus gastroenteritis is a highly contagious, acute viral disease that imposes a significant health burden worldwide. In Japan, rotavirus vaccines have been commercially available since 2011 for voluntary vaccination, but vaccine coverage and effectiveness have not been evaluated. In the absence of a vaccination registry in Japan, vaccination coverage in the general population was estimated according to the number of vaccines supplied by the manufacturer, the number of children who received financial support for vaccination, and the size of the target population. Patients with rotavirus gastroenteritis were identified by reviewing the medical records of all children who consulted 6 major hospitals in Saga Prefecture with gastroenteritis symptoms. Vaccination status among these patients was investigated by reviewing their medical records or interviewing their guardians by telephone. Vaccine effectiveness was determined using a screening method. Vaccination coverage increased with time, and it was 2-times higher in municipalities where the vaccination fee was supported. In the 2012/13 season, vaccination coverage in Saga Prefecture was 14.9% whereas the proportion of patients vaccinated was 5.1% among those with clinically diagnosed rotavirus gastroenteritis and 1.9% among those hospitalized for rotavirus gastroenteritis. Thus, vaccine effectiveness was estimated as 69.5% and 88.8%, respectively. This is the first study to evaluate rotavirus vaccination coverage and effectiveness in Japan since vaccination began.

REPORTS OF INVESTIGATION 775CAN J ANESTH 2000 / 47: 8 / pp [775][776][777][778][779] Purpose: The bronchial cuff pressures (BCPs) of left-sided double-lumen endobronchial tubes (DLTs) manufactured by Rüsch and Mallinckrodt were measured in 80 patients when the tubes were withdrawn to compare the effect of tube design on BCP change.Methods: During general anesthesia with muscle relaxation, the cephalad surface of the endobronchial cuff was positioned either 2.5 cm distal to the carina (Rüsch Group R-I; n = 20 and Mallinckrodt Group B-I; n = 20) or just below the carina (Rüsch Group R-II; n = 20 and Mallinckrodt Group B-II; n = 20) and the cuff was inflated to 35 cm H 2 O. The tube was then withdrawn in 0.5-cm steps until the cuff was 2.0 cm proximal to the carina, the position just before the capnogram or pressure-volume loop of tracheal lumen changed. The BCP at each step was measured. The rate of decrease in BCP was defined as the decrease of BCP divided by the length of displacement of DLT. Results:The rates of decrease from the +2.5 cm position to the end point in Group B-I (7.7 ± 0.8 cm H 2 O·cm -1 ) and those from the most proximal acceptable position to the end point in Group B-II (19.5 ± 4.8 cm H 2 O·cm -1 ) were greater than those in Group R-I (6.9 ± 0.9 cm H 2 O·cm -1 ) (P < 0.01) and in Group R-II (12.4 ± 3.1 cm H 2 O·cm -1 ) (P < 0.01), respectively. Conclusion:The BCP decreased in both of the Mallinckrodt and Rüsch DLTs, and the rates of decrease of the former were greater than those of the latter.Objectif : Les pressions du ballonnet bronchique (PBB) des tubes à double lumière (TDL) gauches fabriqués par Rüsch et Mallinckrodt ont été mesurées chez 80 patients au moment du retrait des tubes afin de comparer l'effet du design du tube sur le changement de PBB.