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Abstract Background De novo mutations arising in the germline are a source of genetic variation and their discovery broadens our understanding of genetic disorders and evolutionary patterns. Although the number of de novo single nucleotide variants (dnSNVs) has been studied in a number of species, relatively little is known about the occurrence of de novo structural variants (dnSVs). In this study, we investigated 37 deeply sequenced pig trios from two commercial lines to identify dnSVs present in the offspring. The identified dnSVs were characterised by identifying their parent of origin, their functional annotations and characterizing sequence homology at the breakpoints. Results We identified four swine germline dnSVs, all located in intronic regions of protein-coding genes. Our conservative, first estimate of the swine germline dnSV rate is 0.108 (95% CI 0.038–0.255) per generation (one dnSV per nine offspring), detected using short-read sequencing. Two detected dnSVs are clusters of mutations. Mutation cluster 1 contains a de novo duplication, a dnSNV and a de novo deletion. Mutation cluster 2 contains a de novo deletion and three de novo duplications, of which one is inverted. Mutation cluster 2 is 25 kb in size, whereas mutation cluster 1 (197 bp) and the other two individual dnSVs (64 and 573 bp) are smaller. Only mutation cluster 2 could be phased and is located on the paternal haplotype. Mutation cluster 2 originates from both micro-homology as well as non-homology mutation mechanisms, where mutation cluster 1 and the other two dnSVs are caused by mutation mechanisms lacking sequence homology. The 64 bp deletion and mutation cluster 1 were validated through PCR. Lastly, the 64 bp deletion and the 573 bp duplication were validated in sequenced offspring of probands with three generations of sequence data. Conclusions Our estimate of 0.108 dnSVs per generation in the swine germline is conservative, due to our small sample size and restricted possibilities of dnSV detection from short-read sequencing. The current study highlights the complexity of dnSVs and shows the potential of breeding programs for pigs and livestock species in general, to provide a suitable population structure for identification and characterisation of dnSVs.

Hyperammonemia due to Ureaplasma infection is rare but often fatal, largely due to the delayed recognition, diagnosis, and treatment of the condition. It has mostly been described in solid organ transplant patients in the literature. This case presents the diagnostic challenge of an immunocompromised patient with previous resected pancreatic head adenocarcinoma and chemotherapy, presenting with altered mental status due to hyperammonemia from Ureaplasma infection. It is imperative to consider this condition in unexplained hyperammonemia, especially in immunocompromised patients. Timely diagnosis of this condition can help to reduce complications from encephalopathy such as cerebral edema and seizures.

Abstract Background The rise of nature-based ecotourism in the past decade has introduced unprecedented challenges in managing the increasing interaction between humans and animals. The potential transmission of antibiotic resistant microbes between humans and non-human primate populations is a concern due to their genetic similarity. Malaysia is well known for hotspots of wildlife diversity where non-human primates like monkeys and orangutans have become popular tourist attractions. In this study, we assessed the prevalence of antimicrobial resistant Staphylococcus aureus, Enterococcus species, and other Enterobacteriaceae in the faeces of human (HS) and two non-human primates (NHP) in Malaysia, the Long-tailed macaque (Macaca fascicularis, MF) and Silvered leaf monkey (Trachypithecus cristatus, TC). In addition, the faecal bacterial composition was profiled to evaluate the potential association between antibiotic resistant profiles and composition of gut microbiota. Results We tested the isolated bacteria using a selection of antibiotics. The results showed that both the number of antibiotic resistant strains and resistance level were higher in humans than NHPs. Overall, the composition of gut microbiome and pattern of antibiotic resistance showed that there was higher similarity between MF and TC, the two NHPs, than with HS. In addition, samples with higher levels of antibiotic resistance showed lower bacterial richness. Homo sapiens had the lowest bacterial diversity and yet it had higher abundance of Bacteroides. In contrast, NHPs displayed higher bacterial richness and greater prevalence of Firmicutes such as Ruminococceae and Oscillospira. Conclusion Higher antibiotic susceptibility in NHPs is likely related to low direct exposure to antibiotics. The lack of resistance may also suggest limited antimicrobial resistance transmission between humans and NHP. Nonetheless, continued monitoring over a long period will help mitigate the risk of anthropozoonosis and zooanthroponosis.

Extraordinary acoustic transmission (EAT) through cascaded both-sides-open disk resonators (BSODRs) in a square lattice array (SLA) is investigated. A single BSODR consists of one disk cavity that is sandwiched by two tubes. These structures are realized by stacking perforated steel plates and immersing them in water. EAT is studied through single-layer, two-layer, three-layer, and four-layer BSODRs in SLAs. The EAT orders increase with increasing numbers of cascading layers. The quality factors of the highest order EAT peaks also increase with increasing numbers of cascading layers. The EAT characteristics of each structure can be predicted using a spring–mass model. A coupled spring–mass model with two oscillators is proposed. The vibration of the steel part is considered one oscillator and that of the water part of the BSODR represents the other oscillator. The model verifies that the EAT resonances are excited by coupling of the vibration from the steel plates to the water part. The experimental transmission spectra agree with the numerically simulated spectra. The EAT frequency is sensitive to the longitudinal sound velocity. Because of the increased quality factor, the figure of merit is enhanced eight times by cascading four BSODR layers. The proposed structure is suitable for acoustic filter and sensor applications.

It is essential to optimize HVAC (Heating, Ventilation and Air-Conditioning) system for a thermal plant or an electric vehicle since it has a significant effect on the thermal efficiency. PTC (positive temperature coefficient) heaters are often used for a heating system and the power module of the PTC heaters, IGBT (insulated gate bipolar mode transistor), requires thermal management. In this study, in order to maximize the cooling performance for IGBT, a novel method that uses forced convection inside the HVAC duct with heat sinks was developed. In addition, heat sinks were optimized in terms of IGBT junction temperature and heat sink weight by 3-dimensional CFD (Computational Fluid Dynamics) simulation. The results show that the junction temperature of IGBT for 5.6kW PTC heater can be maintained at about 335K.

We present the first systematic analysis for new particle formation (NPF), growth and shrinkage of new particles at four different sites in subtropical central Taiwan. A total of 14 NPF events were identified from 137 days of ambient measurements during a cold and warm season. The measured formation rates of 10 nm particles (J10) and growth rates were in the range of 4.4–30 cm−3 s−1 and 7.4–24 nm h−1, respectively. The onset of NPF events coincided with decreases of condensation sink (CS) and increases of SO2 under enhanced atmospheric mixing and dilution. However, the lower or comparable SO2 on event days than on non-event days suggests that SO2 was not a limiting factor for NPF. On non-event days, the particle number concentrations were mostly driven by traffic emissions. We also observed shrinkage of new particles, the reversal of growth, during five out of the identified secondary formation. UFP particles events. In intense cases, the grown particles shrank back to the smallest measurable size of ~10 nm, thereby creating a unique "arch-like" shape in the size distribution contour plot. The particle shrinkage rates ranged from −5.1 to −7.6 nm h−1. The corresponding particle volume losses suggest that a notable fraction of the condensable species that contributed to growth was semi-volatile. The particle shrinkage was related to enhanced atmospheric dilution, high ambient temperature and low relative humidity, thus favoring the evaporation of semi-volatile species from the particulate phase to the gas phase. Our observations show that the new particle growth could be a reversible process, in which the evaporating semi-volatile species are important for the growth of new particles to sizes of environmental health concerns.

Introduction Autism spectrum disorders (ASD) and psychotic disorders have historically considered to be related conditions with a long history of diagnostic confusion. Although DSM-III distinguishes ASD and Schizophrenia Spectrum Disorders as distinct clinical entities, they continue to share overlaps in their clinical symptom presentations leading to diagnostic challenges that may consequentially result in delayed treatment. Prompt diagnosis is crucial in the context of psychosis, where early intervention impacts recovery. Objectives To present the diagnostic challenges encountered in distinguishing ASD from Psychosis. Methods We present a case report demonstrating the challenges of distinguishing ASD from Psychosis. Results This is a case of a gentleman who initially presented to psychiatric services at 18 years old for conflicts with his mother related to his inflexibility to change. Further psychological evaluation revealed that he had a history of restricted social interaction with his peers, difficulties in non-verbal communications and identifying emotional states, stereotyped interests and obsessions that isolated him from his peers. He was diagnosed with ASD. In subsequent presentations, there were symptoms of excessive preoccupation of his facial appearance, excessive concern over contracting HIV, obsessions with arranging objects in a particular order and avoiding words starting with the letter “S” out of fears of blasphemy. While these symptoms had qualities of cognitive inflexibility, they could not fully be explained by ASD. Additional diagnoses of Body Dysmorphic Disorder, Borderline Personality Disorder, Obsessive Compulsive Personality Disorder and At-Risk Mental State were considered. A psychiatric admission was necessitated at 21 years old, when he presented with a 2-year history of repetitive banging of furniture in the middle of the night to communicate his frustrations towards his parents for their perceived acts of blasphemy. He also began to isolate himself, fearing that his parents would be able to look into his soul and reveal his sins. This paranoia towards his parents worsened to the point of urinating and defecating in his room to avoid his parents. His school performance declined as well. A unifying diagnosis of psychosis was made. His previous diagnosis of ASD was challenged as a misdiagnosis, with the impression that he likely had attenuated psychotic symptoms in his adolescent years, disguised as autistic traits. The diagnosis of psychosis was confirmed when the patient’s symptoms were observed to respond to antipsychotic treatment. Conclusions This case report illustrates the challenges in distinguishing ASD from psychosis. A prior diagnosis of ASD may result in diagnostic overshadowing and subsequent delays in diagnosing psychosis. Further research in diagnostic tools would be helpful for diagnostic precision, thereby enabling prompt treatment for better recovery outcomes. Disclosure of Interest None Declared

Episodes with high concentrations of particulate matter (PM) across the seasons were investigated during four 1-month campaigns at a suburban site in Hong Kong. High-resolution time-of-flight aerosol mass spectrometer (HR-ToF-AMS) measurements revealed that both regional transport and secondary formation contributed to high PM levels during the episodes at this site. Based on distinct meteorological conditions, episodes were categorized into three types: liquid water content (LWC), solar irradiance (IR), and long-range transport (LRT). Despite the difference in meteorological conditions, all episodes were characterized by a high fraction of sulfate (45–56 %) and organics (23–34 %). However, aerosols in LWC episodes were less aged, consisting of the lowest fraction of secondary organic aerosol (SOA) and the highest fraction of small particles. Large particles mixed internally while freshly formed small particles mixed externally in LWC episodes. Aerosols in LRT episodes, by contrast, were the most aged and consisted of the highest proportion of low-volatility oxygenated organic aerosol (LVOOA) and the lowest proportion of small particles. Both small and large particles mixed externally in LRT episodes. The highest proportion of semi-volatile oxygenated organic aerosol (SVOOA) and a medium proportion of small particles were observed in IR episodes. Both small and large particles were likely externally mixed during IR episodes. Furthermore, aerosols experienced the most dramatic size increase and diurnal variation, with a time lag between SVOOA and LVOOA and a gradual increase in carbon oxidation state (OSc ≈ 2 × O : C − H : C). Five out of 10 episodes were of the IR type, further reflecting the importance of this type of episode. The evolution of aerosol components in one particular episode of the IR type, which exhibited a clear land–sea breeze pattern, was examined in detail. Sulfate and SOA due to photochemical aging were very efficiently produced during the course of 6 h. The “less-oxidized” SOA (SVOOA) was initially formed at a higher rate than the “more-oxidized” SOA (LVOOA). The SVOOA transformed to LVOOA at the later stage of photochemical aging. This transformation was further supported by mass spectral analysis, which showed an increase in the most oxidized ion (CO2+) and decreases in moderately oxidized ones (C2H3O+, C3H3O+ and C3H5O+). By measuring the physical and chemical properties of PM in a highly time-resolved manner, the current study was able to demonstrate the dynamic and complex nature of PM transformation during high-PM episodes.

The cloud condensation nuclei (CCN) properties of atmospheric aerosols were measured on 1–30 May 2011 at the HKUST (Hong Kong University of Science and Technology) Supersite, a coastal site in Hong Kong. Size-resolved CCN activation curves, the ratio of number concentration of CCN (NCCN) to aerosol concentration (NCN) as a function of particle size, were obtained at supersaturation (SS) = 0.15, 0.35, 0.50, and 0.70% using a DMT (Droplet Measurement Technologies) CCN counter (CCNc) and a TSI scanning mobility particle sizer (SMPS). The mean bulk size-integrated NCCN ranged from ~500 cm−3 at SS = 0.15% to ~2100 cm−3 at SS = 0.70%, and the mean bulk NCCN / NCN ratio ranged from 0.16 at SS = 0.15% to 0.65 at SS = 0.70%. The average critical mobility diameters (D50) at SS = 0.15, 0.35, 0.50, and 0.70% were 116, 67, 56, and 46 nm, respectively. The corresponding average hygroscopic parameters (κCCN) were 0.39, 0.36, 0.31, and 0.28. The decrease in κCCN can be attributed to the increase in organic to inorganic volume ratio as particle size decreases, as measured by an Aerodyne high resolution time-of-flight aerosol mass spectrometer (HR-ToF-AMS). The κCCN correlates reasonably well with κAMS_SR based on size-resolved AMS measurements: κAMS_SR = κorg × forg + κinorg × finorg, where forg and finorg are the organic and inorganic volume fractions, respectively, κorg = 0.1 and κinorg = 0.6, with a R2 of 0.51. In closure analysis, NCCN was estimated by integrating the measured size-resolved NCN for particles larger than D50 derived from κ assuming internal mixing state. Estimates using κAMS_SR show that the measured and predicted NCCN were generally within 10% of each other at all four SS. The deviation increased to 26% when κAMS was calculated from bulk PM1 AMS measurements of particles because PM1 was dominated by particles of 200 to 500 nm in diameter, which had a larger inorganic fraction than those of D50 (particle diameter < 200 nm). A constant κ = 0.33 (the average value of κAMS_SR over the course of campaign) was found to give an NCCN prediction within 12% of the actual measured values. We also compared NCCN estimates based on the measured average D50 and the average size-resolved CCN activation ratio to examine the relative importance of hygroscopicity and mixing state. NCCN appears to be relatively more sensitive to the mixing state and hygroscopicity at a high SS = 0.70% and a low SS = 0.15%, respectively.

The chemical characteristics of organic aerosol (OA) are still poorly constrained. Here we present observation results of the degree of oxygenation of OA based on high-resolution time-of-flight aerosol mass spectrometry (HR-ToF-AMS) measurements made at a coastal site in Hong Kong from late April to the end of May in 2011. Two foggy periods and one hazy period were chosen for detailed analysis to compare the changes in the degree of oxygenation of OA due to different processes. Using HR-ToF-AMS measured inorganic species as input, the Extended Aerosol Inorganic Model (E-AIM) predicted a fine-particle liquid water content (LWCfp) up to 85 μg m−3 during the foggy days. Particle concentration as measured by HR-ToF-AMS was up to 60 μg m−3 during the hazy days and up to 30 μg m−3 during the foggy days. The degree of oxygenation of OA, as indicated by several parameters including the fraction of m/z 44 in organic mass spectra (f44), the elemental ratio of oxygen to carbon (O : C), and the carbon oxidation state (OSc), was evaluated against the odd oxygen (Ox) concentration, LWCfp, ionic strength (IS), and in situ pH (pHis). Observations suggest that the high concentration of OA (on average 11 μg m−3) and the high degree of oxygenation (f44 = 0.15, O : C = 0.51, and OSc = −0.31) during the hazy period were mainly due to gas-phase oxidation. During the foggy periods with low photochemical activities, the degree of oxygenation of OA was almost as high as that on the hazy days, and significantly higher than that during non-foggy/non-hazy days. However, the OA evolved quite differently in the two foggy periods. The first foggy period in late April saw a larger LWCfp and a lower Ox concentration and the OA were made up of ~ 20 % semi-volatile oxygenated organic aerosol (SVOOA) as resolved by positive matrix factorization (PMF). In the second foggy period in mid-May, higher Ox concentration and lower LWCfp were observed, and the OA were found to contain > 50 % low-volatility oxygenated organic aerosols (LVOOA). An examination of the particle characteristics (pHis, IS, and LWCfp) suggests that partitioning may have been the dominating process through which oxygenated species were incorporated into the particle phase during the first foggy period, while oxidation in the aqueous phase dominated over gas-phase processes during the second foggy period.