Connectivity between physiological networks is an issue of particular importance for understanding the complex interaction brain-heart. In the present study, this interaction was analyzed in polysomnography recordings of 28 patients diagnosed with obstructive sleep apnea (OSA) and compared with a group of 10 control subjects. Electroencephalography and electrocardiography signals from these polysomnography time series were characterized employing Granger causality computation to measure the directed connectivity among five brain waves and three spectral subbands of heart rate variability. Polysomnography data from OSA patients were recorded before and during a first session of continuous positive air pressure (CPAP) therapy in a split-night study. Results showed that CPAP therapy allowed the recovery of inner brain connectivities, mainly in subsystems involving the theta wave. In addition, differences between control and OSA patients were established in connections that involve lower frequency ranges of heart rate variability. This information can be potentially useful in the initial diagnosis of OSA, and determine the role of cardiac activity in sleep dynamics based on the use of three subbands of heart rate variability.

Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at younger ages, suggesting this may arise from differences in brain development. These findings suggest that EEG features could enhance the detection of risk for ASD.

Insufficient physical activity (PA) and prolonged sedentary behaviour (SB) may have deleterious psychological health consequences. Using one-year prospective data, this study examined the combined effects of PA and SB on psychological distress among university-based young adults in Dhaka, Bangladesh. During Wave 1 (September-December 2015), total 573 undergraduate students (mean age: 20.7 ± 1.35 years; 45% females) completed a self-administered survey on PA, SB, psychological distress, health and lifestyle factors and sociodemographics. During Wave 2 (October-November 2016), 395 students (retention rate = 69%) completed a sub-set of Wave 2 survey with items on PA, SB and psychological distress. PA and SB were assessed using the Global Physical Activity Questionnaire and distress with the Kessler 6 Psychological Distress scale. Generalized Estimating Equations with Gaussian family and identity link under exchangeable correlation structure was used to examine the relationships. Multivariable modeling showed that participants with insufficient PA (<150 min/week) and high SB (≥480 min/day) or insufficient PA + low SB had more distress [β: 3.07 (95% CI: 2.12-4.01) and 2.77 (1.86-3.67), respectively] than those who had sufficient PA + low SB, after controlling for gender, sleep difficulties, perceived health, fast food and fresh fruit intake. There was no statistically significant difference for the level of distress between other PA and SB groups. In this one-year prospective study, irrespective of SB, insufficient PA was associated with high psychological distress in university-based young adults in Bangladesh. The protective role of PA should be considered in intervention programs to improve psychological health of young adults.

In this study, we proposed a new method for multi-class classification of sleep apnea/hypopnea events based on a long short-term memory (LSTM) using photoplethysmography (PPG) signals. The three-layer LSTM model was used with batch-normalization and dropout to classify the multi-class events including normal, apnea, and hypopnea. The PPG signals, which were measured by the nocturnal polysomnography with 7 h from 82 patients suffered from sleep apnea, were used to model training and evaluation. The performance of the proposed method was evaluated on the training set from 63 patients and test set from 13 patients. The results of the LSTM model showed the following high performances: the positive predictive value of 94.16% for normal, 81.38% for apnea, and 97.92% for hypopnea; sensitivity of 86.03% for normal, 91.24% for apnea, and 99.38% for hypopnea events. The proposed method had especially higher performance of hypopnea classification which had been a drawback of previous studies. Furthermore, it can be applied to a system that can classify sleep apnea/hypopnea and normal events automatically without expert's intervention at home.

Diagnostic accuracy of Xpert MTB/RIF assay for pulmonary tuberculosis (PTB) and extrapulmonary TB (EPTB) has not been investigated in Iran. This study was aimed to assess the diagnostic accuracy of Xpert MTB/RIF assay for both PTB and EPTB. A total of 2111 clinical samples (1218 pulmonary and 838 extra-pulmonary) were collected from 16 medical centers during the study period and were analyzed for detection of PTB and EPTB by both Xpert MTB/RIF assay and standard conventional methods (culture and direct smear microscopy). The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of Xpert MTB/RIF assay for PTB were found to be 95.5%, 96.7%, 83.8%, and 99.1% respectively. For EPTB, the sensitivity, specificity, PPV and NPV of Xpert MTB/RIF assay counted for 76.5%, 95.9%, 62%, and 97.9% respectively. Xpert MTB/RIF assay found to be highly sensitive, specific and comparable to standard conventional methods for the diagnosis of PTB. However, the sensitivity and specificity of Xpert MTB/RIF for EPTB specimens were highly variable; thus, Xpert MTB/RIF cannot be recommended to replace standard conventional tests for diagnosis of EPTB.

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear-nose-throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.

House dust mite (HDM) is a major allergen that causes allergic diseases such as atopic dermatitis. However, the regulatory mechanisms of HDM-induced immune responses are incompletely understood. NC/Nga mice are an inbred strain that is more susceptible to HDM and develops more severe dermatitis than other strains. Using whole-exome sequencing, we found that NC/Nga mice carry a stop-gain mutation in Clec10a, which encodes a C-type lectin receptor, Clec10a (MGL1/CD301a). The repair of this gene mutation using the CRISPR-Cas9 system ameliorated HDM-induced dermatitis, indicating that the Clec10a mutation is responsible for hypersensitivity to HDM in NC/Nga mice. Similarly, Clec10a-/- mice on the C57BL/6J background showed exacerbated HDM-induced dermatitis. Clec10a expressed on skin macrophages inhibits HDM-induced Toll-like receptor 4 (TLR4)-mediated inflammatory cytokine production through the inhibitory immunoreceptor tyrosine activating motif in its cytoplasmic portion. We identified asialoglycoprotein receptor 1 (Asgr1) as a functional homolog of mouse Clec10a in humans. Moreover, we found that a mucin-like molecule in HDM is a ligand for mouse Clec10a and human Asgr1. Skin application of the ligand ameliorated a TLR4 ligand-induced dermatitis in mice. Our findings suggest that Clec10a in mice and Asgr1 in humans play an important role in skin homeostasis against inflammation associated with HDM-induced dermatitis.