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Patients with erythrokeratodermia cardiomyopathy syndrome exhibit congenital, generalised erythrokeratoderma and dilated cardiomyopathy during early childhood. We report a case of erythrokeratodermia cardiomyopathy syndrome in a 15-year-old male patient and focus this report on cardiac features that were present.
We report on a 7-month-old male with transient phrenic nerve palsy induced by diagnostic cardiac catheterisation. The phrenic nerve palsy, which is a rare complication, was due to extravascular bleeding from a branch of the internal mammary artery.
Enterohepatic circulation of 12α-hydroxylated (12αOH) bile acid (BA) is enhanced depending on the energy intake in high-fat diet-fed rats. Such BA metabolism can be reproduced using a diet supplemented with cholic acid (CA), which also induces simple steatosis, without inflammation and fibrosis, accompanied by some other symptoms that are frequently observed in the condition of non-alcoholic fatty liver in rats. We investigated whether supplementation of the diet with raffinose (Raf) improves hepatic lipid accumulation induced by the CA-fed condition in rats. After acclimation to the AIN-93-based control diet, male Wistar rats were fed diets supplemented with a combination of Raf (30 g/kg diet) and/or CA (0·5 g/kg diet) for 4 weeks. Dietary Raf normalised hepatic TAG levels (two-way ANOVA P < 0·001 for CA, P = 0·02 for Raf and P = 0·004 for interaction) in the CA-supplemented diet-fed rats. Dietary Raf supplementation reduced hepatic 12αOH BA concentration (two-way ANOVA P < 0·001 for CA, P = 0·003 for Raf and P = 0·03 for interaction). The concentration of 12αOH BA was reduced in the aortic and portal plasma. Raf supplementation increased acetic acid concentration in the caecal contents (two-way ANOVA P = 0·001 as a main effect). Multiple regression analysis revealed that concentrations of aortic 12αOH BA and caecal acetic acid could serve as predictors of hepatic TAG concentration (R2 = 0·55, P < 0·001). However, Raf did not decrease the secondary 12αOH BA concentration in the caecal contents as well as the transaminase activity in the CA diet-fed rats. These results imply that dietary Raf normalises hepatic lipid accumulation via suppression of enterohepatic 12αOH BA circulation.
Numerous studies have demonstrated attentional control difficulties and high avoidance coping in patients with anorexia nervosa. Attention is a critical coping resource because it enables individuals to demonstrate self-control and complete goal-directed behaviours.
We aimed to examine whether attentional control difficulty is related to high avoidance coping, and investigate the neural underpinnings of attentional control difficulties in individuals with anorexia nervosa.
Twenty-three patients with anorexia nervosa and 17 healthy controls completed questionnaires that assessed attention and coping, and underwent functional magnetic resonance imaging while performing a go/no-go task.
Patients with anorexia nervosa showed weaker attentional control, higher omission error rates and higher avoidance coping compared with healthy controls. Attentional control difficulty was associated with higher avoidance coping in both groups. Functional magnetic resonance imaging analysis showed less deactivation in regions representing internal mental processing, such as the praecuneus, cuneus and left lingual gyrus, during the no-go condition. Moreover, weakened deactivation of the left lingual gyrus was associated with higher commission error rate in the anorexia nervosa group.
Our results suggest that patients with anorexia nervosa may have difficulty in maintaining attention to external ongoing events because of disturbance from internal self-related thought, and support the notion that attentional control difficulties underlie the frequent use of avoidance coping in anorexia nervosa.
Quantitative plant biology is an interdisciplinary field that builds on a long history of biomathematics and biophysics. Today, thanks to high spatiotemporal resolution tools and computational modelling, it sets a new standard in plant science. Acquired data, whether molecular, geometric or mechanical, are quantified, statistically assessed and integrated at multiple scales and across fields. They feed testable predictions that, in turn, guide further experimental tests. Quantitative features such as variability, noise, robustness, delays or feedback loops are included to account for the inner dynamics of plants and their interactions with the environment. Here, we present the main features of this ongoing revolution, through new questions around signalling networks, tissue topology, shape plasticity, biomechanics, bioenergetics, ecology and engineering. In the end, quantitative plant biology allows us to question and better understand our interactions with plants. In turn, this field opens the door to transdisciplinary projects with the society, notably through citizen science.
Intracytoplasmic sperm injection (ICSI) is an important technique in male infertility treatment. Currently, sperm selection for ICSI in human assisted reproductive technology (ART) is subjective, based on a visual assessment by the operator. Therefore, it is desirable to develop methods that can objectively provide an accurate assessment of the shape and size of sperm heads that use low-magnification microscopy available in most standard fertility clinics. Recent studies have shown a correlation between sperm head size and shape and chromosomal abnormalities, and fertilization rate, and various attempts have been made to establish automated computer-based measurement of the sperm head itself. For example, a dictionary-learning technique and a deep-learning-based method have both been developed. Recently, an automatic algorithm was reported that detects sperm head malformations in real time for selection of the best sperm for ICSI. These data suggest that a real-time sperm selection system for use in ICSI is necessary. Moreover, these systems should incorporate inverted microscopes (×400–600 magnification) but not the fluorescence microscopy techniques often used for a dictionary-learning technique and a deep-learning-based method. These advances are expected to improve future success rates of ARTs. In this review, we summarize recent reports on the assessment of sperm head shape, size, and acrosome status in relation to fertility, and propose further improvements that can be made to the ARTs used in infertility treatments.
Severe acute respiratory syndrome coronavirus-2 uses angiotensin-converting enzyme-2 as a primary receptor for invasion. This study investigated angiotensin-converting enzyme-2 expression in the sinonasal mucosa of patients with chronic rhinosinusitis, as this could be linked to a susceptibility to severe acute respiratory syndrome coronavirus-2 infection.
Ethmoid sinus specimens were obtained from 27 patients with eosinophilic chronic rhinosinusitis, 18 with non-eosinophilic chronic rhinosinusitis and 18 controls. The angiotensin-converting enzyme-2 and other inflammatory cytokine and chemokine messenger RNA levels were assessed by quantitative reverse transcription polymerase chain reaction. Angiotensin-converting enzyme-2 positive cells were examined immunohistologically.
The eosinophilic chronic rhinosinusitis patients showed a significant decrease in angiotensin-converting enzyme-2 messenger RNA expression. In the chronic rhinosinusitis patients, angiotensin-converting enzyme-2 messenger RNA levels were positively correlated with tumour necrosis factor-α and interleukin-1β (r = 0.4971 and r = 0.3082, respectively), and negatively correlated with eotaxin-3 (r = −0.2938). Angiotensin-converting enzyme-2 immunoreactivity was mainly localised in the ciliated epithelial cells.
Eosinophilic chronic rhinosinusitis patients with type 2 inflammation showed decreased angiotensin-converting enzyme-2 expression in their sinus mucosa. Angiotensin-converting enzyme-2 regulation was positively related to pro-inflammatory cytokines, especially tumour necrosis factor-α production, in chronic rhinosinusitis patients.
The zygote is the first cell of a multicellular organism. In most angiosperms, the zygote divides asymmetrically to produce an embryo-precursor apical cell and a supporting basal cell. Zygotic division should properly segregate symbiotic organelles, because they cannot be synthesized de novo. In this study, we revealed the real-time dynamics of the principle source of ATP biogenesis, mitochondria, in Arabidopsis thaliana zygotes using live-cell observations and image quantifications. In the zygote, the mitochondria formed the extended structure associated with the longitudinal array of actin filaments (F-actins) and were polarly distributed along the apical–basal axis. The mitochondria were then temporally fragmented during zygotic division, and the resulting apical cells inherited mitochondria at higher concentration compared to the basal cells. Further observation of postembryonic organs showed that these mitochondrial behaviours are characteristic of the zygote. Overall, our results showed that the zygote has spatiotemporal regulation that unequally distributes the mitochondria.
The current study aimed to predict disability-adjusted life years (DALY) rate in Japan through 2040 with plausible future scenarios of fruit intake for neoplasms, cardiovascular diseases (CVD) and diabetes and kidney diseases (DKD).
Data from National Health and Nutrition Surveys and the Global Burden of Diseases study in 2017 were used. We developed an autoregressive integrated moving average model with four future scenarios. Reference scenario maintains the current trend. Best scenario assumes that the goal defined in Health Japan 21 is achieved in 2023 and is kept constant afterwards. Moderate scenario assumes that the goal is achieved in 2040. Constant scenario applies the same proportion of 2016 for the period between 2017 and 2040.
DALY rates in Japan were predicted for the period between 2017 and 2040.
Population aged more than than 20 years old.
In our reference forecast, the DALY rates in all-ages group were projected to be stable for CVD and continue increasing for neoplasms and DKD. Age group-specific DALY rates for these three disease groups were forecasted to decrease, with some exceptions. Among men aged 20–49 years, DALY attributable to CVD differed substantially between the scenarios, implying that there is a significant potential for reducing the burden of CVD by increasing fruit intake at the population level.
Our scenario analysis shows that higher fruit intake is associated with lower disease burden in Japan. Further research is required to assess which policies and interventions can be used to achieve an increase in fruit intake as modelled in the scenarios of the current study.
Background: The genus Roseomonas, containing pink-pigmented glucose nonfermentative bacteria, has been associated with various primary and nosocomial human infections; however, to our knowledge, its nosocomial transmission has never been reported in the literature. Here, we report a nosocomial cluster of Roseomonas mucosa bacteremia. Methods: Two cases of R. mucosa bacteremia in 2018 are described. Clinical and epidemiological investigations were undertaken. Environmental surfaces prone to water contamination in the patient wards were sampled and cultured. The sampled surfaces included sinks, faucets, toilets, sewage, showerheads, refrigerators, exhaust vents, and washing machines. The 2 clinical isolates and all environmental isolates that showed growth of pink colonies were identified using matrix-assisted laser desorption/ionization time of flight mass spectrometry and 16S rRNA gene sequencing. Pulse-field gel electrophoresis (PFGE) was performed and fingerprinting software was used to analyze the DNA restriction patterns and determine their similarity. Results: Two patients who developed R. mucosa bacteremia had received care from the same treatment team. The patients were on different wards but had overlapping hospital stays. In addition to the treatment team, no other shared exposure was identified. Moreover, 126 environmental surfaces were sampled, of which 7 samples grew pink colonies. The 9 isolates from the patients and the environmental samples were examined using 16S rRNA gene sequencing. Overall, 7 isolates, including isolates from both patients, were identified as R. mucosa, and the other 2 isolates were identified as Roseomonas gilardii subsp. rosea (Fig. 1). With 80% similarity as a cutoff, PFGE analysis revealed that the R. mucosa isolates from 2 patients’ blood cultures and 3 environmental isolates (a washing machine in the ward, a sink in the shared washroom, and a sink in the patient room) belonged to the same clone (Fig. 2). Conclusions: The hospital water environment was contaminated with R. mucosa, and the same clone caused bacteremia in 2 separate patients, suggesting nosocomial transmission of R. mucosa possibly linked to contaminated water, environment, and/or patient care.
The Fukushima Daiichi Nuclear Power Station accident in 2011 produced over 100000 evacuees. In order to deal with an increased need of mental health care, brief, transdiagnostic Telephonic Interventions (TI) have been provided for those at risk of different mental health problems identified based on results of the Mental Health and Lifestyle Survey (MHLS). This study aimed to examine usefulness of TI with focusing on evacuees’ subjective estimation assessed in individual follow-up interviews. The sample comprised 484 persons who had been evacuated from 13 municipalities in Fukushima Prefecture to 8 safer regions in and out of Fukushima. We conducted semi-structured interviews for participants receiving TI (intervention group) and those not receiving TI despite being identified as high risk (non-intervention group). The intervention group was older, had a higher proportion of self-reported mental illness, and higher unemployment compared with the non-intervention group. The satisfaction proportion of those who underwent TI was as high as 74.6%. Satisfaction was significantly associated with advance knowledge of TI availability (OR = 3.00, 95% CI: 1.59‐5.64), and advice on health-related practices (OR = 2.15, 95% CI: 1.12‐4.13). Thus, TI is considered to be feasible and useful for public health management practices in major disasters.
OBJECTIVES/GOALS: Lack of blood vessels remains a major obstacle in tissue regeneration. Angiopoietin 1 and 2 modulate angiogenesis through the Tie2 receptor tyrosine kinase. Ang1 activates pAKT to promote endothelial cell survival while Ang2 antagonizes these effects. We aim to dissect the Ang/Tie2 pathway to uncover the molecular basis for these opposing effects. METHODS/STUDY POPULATION: Ang1 and Ang2 bind Tie2 via nearly identical F-domains (Fd). To investigate the molecular basis regulating the Tie2 pathway, we generated a series of computationally designed self-assembling protein scaffolds presenting F-domains in a wide range of valencies and geometries using Rosette Molecular Modeling Suite. We examined the protein kinase activation, cell migration, and blood vessel formation produced by the designed proteins in human umbilical vein endothelial cells. RESULTS/ANTICIPATED RESULTS: Two phenotypic classes were demonstrated by the number of presented F domains: scaffolds presenting 3 or 4 Fd have Ang2 like activity, upregulating pFAK and pERK but not pAKT and failing to induce cell migration and tube formation; scaffolds presenting more than 6 Fd have Ang1 like activity, upregulating the three signaling branches and enhancing cell migration and tube formation. Scaffolds with 8 or more Fd show superagonist activity, producing significantly stronger phenotypes than Ang1. These results suggest that Fd valency largely determines Ang1 vs Ang2 signaling outcomes, and our designed superagonists can outperform Ang1 in vascularization and wound healing. In in vivo experiments, nanoparticles displaying 60 copies of Fd produce significant revascularization in hemorrhagic brains. DISCUSSION/SIGNIFICANCE OF IMPACT: Targeting the Tie2 pathway is a new paradigm in regenerative medicine. Our designed constructs will enable us to generate high-affinity Tie2 agonists and antagonists as drugs to control angiogenesis, enabling tissue regeneration that recapitulates the biological architecture of the native tissue physiology, improving organ transplant outcome.
To investigate the effect of different energies on dose distribution in volumetric-modulated arc therapy (VMAT) plans for head and neck cancer.
Materials and methods:
Data from nine patients undergoing VMAT plans using 6 MV, 10 MV and dual-energy X-ray beams with the Pinnacle 3 V 9.10 treatment planning system (Philips Medical System, Fitchburg, WI, USA) were analysed for quality using the conformity index (CI) and homogeneity index (HI) for planning target volume (PTV), and for mean and maximum dose to the organs at risk (OARs): parotid glands, brainstem, spinal cord and optic nerves.
There were no clear differences in the HIs of the PTV dose among the different plans. The CIs for 10 MV and dual-energy VMAT plans were superior to that of the 6 MV VMAT plan (0·8 ± 0·3, 0·8 ± 0·3, and 0·7 ± 0·2, respectively; p = 0·001). There were no significant differences in mean/maximum dose to the OARs among the three VMAT plans.
Compared with the 6 MV VMAT plan, the dual-energy VMAT plan slightly increased the coverage of the PTV with the prescribed dose but did not decrease dose to the OARs.
N-acetylaspartate (NAA) levels and serum brain-derived neurotrophic factor (BDNF) levels in patients with first-episode schizophrenia psychosis and age- and sex-matched healthy control subjects were investigated. In addition, plasma levels of homovanillic acid (HVA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) were compared between the two groups.
Eighteen patients (nine males, nine females; age range: 13–52 years) were enrolled in the study, and 18 volunteers (nine males, nine females; age range: 15–49 years) with no current or past psychiatric history were also studied by magnetic resonance spectroscopy (MRS) as sex- and age-matched controls.
Levels of NAA/Cr in the left basal ganglia (p = 0.0065) and parieto-occipital lobe (p = 0.00498), but not in the frontal lobe, were significantly lower in patients with first-episode schizophrenia psychosis than in control subjects. No difference was observed between the serum BDNF levels of patients with first-episode schizophrenia psychosis and control subjects. In regard to the plasma levels of catecholamine metabolites, plasma MHPG, but not HVA, was significantly lower in the patients with first-episode psychosis than in control subjects. In addition, a significantly positive correlation was observed between the levels of NAA/Cr of the left basal ganglia and plasma MHPG in all subjects.
These results suggest that brain NAA levels in the left basal ganglia and plasma MHPG levels were significantly reduced at the first episode of schizophrenia psychosis, indicating that neurodegeneration via noradrenergic neurons might be associated with the initial progression of the disease.
Pilots are sometimes not provided with sufficient information to avoid go-arounds or other operational disruptions that result from low-level wind disturbances. We identified issues with existing windshear alerting systems and developed three types of airport low-level wind information systems to enhance pilot situational awareness of wind conditions by providing landing aircraft with quantitative and visualised wind information for ultimately mitigating air service disruptions due to low-level wind disturbances. The three systems, Airport Low-level Wind Information (ALWIN) and Low-level Turbulence Advisory System (LOTAS), both of which use Doppler radar/lidar, and Sodar-based Low-level Wind Information (SOLWIN), which uses Doppler SOnic Detection And Ranging (SODAR), have different costs and capabilities that allow the most cost-effective system to be selected for an airport according to its scale and local weather characteristics. This paper presents the operational concepts of our newly developed airport low-level wind information systems and describes their validation.
Cognitive deficits as well as affective and physical symptoms are common after traumatic brain injury (TBI). However, little is known about how these deficits affect functional outcomes. The purpose of this study was to investigate the relationship between neuropsychological, affective and physical sequelae and outcomes such as social function and quality of life in patients with TBI. We studied these relationships in 57 patients with TBI over the course of 6 months post-injury. The patients completed neuropsychological assessments, including the Wechsler Adult Intelligence Scale-III, the Rivermead Behavioural Memory Test, and verbal fluency test. Affective and physical symptoms were assessed by beck depression inventory-II, Chalder fatigue scale, and Pittsburgh sleep quality index. Functional outcomes were assessed using the world health organization (WHO) disability assessment rated by others and the WHO quality of life assessment (WHO/QOL 26). The patients showed impairments in executive function assessed by verbal fluency test. The affective and physical assessments showed mild depressive mood and fatigue problem. Multiple regression analysis revealed that executive function and depressive mood were the best predictors of social function and quality of life, respectively. The findings of this study suggest that executive function and depressive mood are important factors to predict functional outcomes in patients with TBI.
Disclosure of interest
The authors have not supplied their declaration of competing interest.
We investigate the concept of orbital free entropy from the viewpoint of the matrix liberation process. We will show that many basic questions around the definition of orbital free entropy are reduced to the question of full large deviation principle for the matrix liberation process. We will also obtain a large deviation upper bound for a certain family of random matrices that is essential to define the orbital free entropy. The resulting rate function is made up into a new approach to free mutual information.
Observation of the dynamic interaction between dislocations and carbon atoms is important in steel design. Some steel materials are bake-hardened in several manufacturing processes. Solute carbons are known to segregate on dislocations; this hardens the steel even after low-temperature treatments. The purpose of this study was to develop a method of monitoring a series of microstructural changes in strain aging by in-situ measurement of the electrical resistance in low-carbon steel. In tensile deformation, elastic, Lüders, and uniform plastic deformations could be distinguished by monitoring the changes in electrical resistance. Electrical resistance rapidly increased in the plastic deformation region in the strain-aged specimen. Although the deformation stress hardly changed, the amount of lattice defects monotonously increased. These analyses provide useful information in steel design related to thermomechanical treatments of bake-hardenable steel.