Schizophrenia, Schizoaffective, and Bipolar disorders share behavioral and phenomenological traits, intermediate phenotypes, and some associated genetic loci with pleiotropic effects. Volumetric abnormalities in brain structures are among the intermediate phenotypes consistently reported associated with these disorders. In order to examine the genetic underpinnings of these structural brain modifications, we performed genome-wide association analyses (GWAS) on 60 quantitative structural brain MRI phenotypes in a sample of 777 subjects (483 cases and 294 controls pooled together). Genotyping was performed with the Illumina PsychChip microarray, followed by imputation to the 1000 genomes multiethnic reference panel. Enlargement of the Temporal Horns of Lateral Ventricles (THLV) is associated with an intronic SNP of the gene NRXN1 (rs12467877, P = 6.76E–10), which accounts for 4.5% of the variance in size. Enlarged THLV is associated with psychosis in this sample, and with reduction of the hippocampus and enlargement of the choroid plexus and caudate. Eight other suggestively significant associations (P < 5.5E–8) were identified with THLV and 5 other brain structures. Although rare deletions of NRXN1 have been previously associated with psychosis, this is the first report of a common SNP variant of NRXN1 associated with enlargement of the THLV in psychosis.

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The frequency-following response (FFR) provides a measure of phase-locked auditory encoding in humans and has been used to study subcortical processing in the auditory system. While effects of experience on the FFR have been reported, few studies have examined whether individual differences in early sensory encoding have measurable effects on human performance. Absolute pitch (AP), the rare ability to label musical notes without reference notes, provides an excellent model system for testing how early neural encoding supports specialized auditory skills. Results show that the FFR predicts pitch labelling performance better than traditional measures related to AP (age of music onset, tonal language experience, pitch adjustment and just-noticeable-difference scores). Moreover, the stimulus type used to elicit the FFR (tones or speech) impacts predictive performance in a manner that is consistent with prior research. Additionally, the FFR predicts labelling performance for piano tones better than unfamiliar sine tones. Taken together, the FFR reliably distinguishes individuals based on their explicit pitch labeling abilities, which highlights the complex dynamics between sensory processing and cognition.

ABSTRACT:Schizophrenia, Schizoaffective, and Bipolar Disorders share common illness traits, intermediate phenotypes and a partially overlapping polygenic basis. We performed GWAS on deep phenotyping data, including structural MRI and DTI, clinical, and behavioral scales from 1,115 cases and controls. Significant associations were observed with two cerebrospinal fluid volumes: the temporal horn of left lateral ventricle was associated with NRXN1, and the volume of the cavum septum pellucidum was associated with LRP1B and RORA. Both volumes were associated with illness. Suggestive associations were observed with local gyrification indices, fractional anisotropy and age at onset. The deep phenotyping approach allowed unexpected genetic sharing to be found between phenotypes, including temporal horn of left lateral ventricle and age at onset.

BACKGROUND: At sea level, performing chest compressions is a demanding physical exercise. On a commercial flight at cruise altitude, the barometric pressure in the cabin is approximately equal to an altitude of 2438 m. This results in a Po2 equivalent to breathing an FIo2 of 15% at sea level, a condition under which both the duration and quality of cardiopulmonary resuscitation (CPR) may deteriorate. We hypothesized that rescuers will be able to perform fewer rounds of high-quality CPR at an FIo2 of 15%.METHODS: In this crossover simulation trial, 16 healthy volunteers participated in 2 separate sessions and performed up to 14 2-min rounds of chest compressions at an FIo2 of either 0.15 or 0.21 in randomized order. Subjects were stopped if their Spo2 was below 80%, if chest compression rate or depth was not achieved for 2/3 of compressions, or if they felt fatigued or dyspneic.RESULTS: Fewer rounds of chest compressions were successfully completed in the hypoxic than in the normoxic condition, (median [IQR] 4.5 [3,8.5]) vs. 5 [4,14]). The decline in arterial Spo2 while performing chest compressions was greater in the hypoxic condition than in the normoxic condition [mean (SD), 6.19% (4.1) vs. 2% (1.66)].DISCUSSION: Our findings suggest that the ability of rescuers to perform chest compressions in a commercial airline cabin at cruising altitude may be limited due to hypoxia. One possible solution is supplemental oxygen for rescuers who perform chest compressions for in-flight cardiac arrest.Clebone A, Reis K, Tung A, OConnor M, Ruskin KJ. Chest compression duration may be improved when rescuers breathe supplemental oxygen. Aerosp Med Hum Perform. 2020; 91(12):918922.