bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical Study of 8 Cases of CHD2 Gene Mutation–Related Neurological Diseases and Their Mechanisms
Authors: Luo Xiaona , Sun Xiaoang , Wang Yilin , Lin Longlong , Yuan Fang , Wang Simei , Zhang Wenjing , Ji Xiaobing , Liu Meiyan , Wu Shengnan , Lan Xiaoping , Zhang Jie , Yan Jingbin , Zeng Fanyi , Chen Yucai 
Published: March 2022

Background: The chromodomain helicase DNA-binding protein 2 (CHD2) gene, is an ATPase and part of the CHD family of chromatin remodelers. Mutations in the CHD2 gene are inherited in an autosomal-dominant manner and can lead to intellectual disability, epilepsy, and autism. We investigated the clinical characteristics of CHD2-related conditions and their possible pathogenesis.Methods: We collected and analysed the clinical data of patients that were identified as having CHD2 mutations. Genetic testing was performed using targeted sequencing or whole-exome sequencing. We analysed the expression of CHD2 and repressor element 1-silencing transcription factor (REST) in blood samples using quantitative PCR and the conservation of the mutations. The CHD2 mutations we identified were compared with the known mutations reported in the CHD2-related literature.Results: Eight patients with CHD2 gene mutations were analysed. Six mutations were identified; four were unreported previously (c.670C&gt;T; c.4012A&gt;C; c.2416dup; c.1727–1728insAT), and two were known mutations: c.5035C&gt;T (two cases) and c.4173dup (two cases). Among these mutations, seven were de novo mutations, and one could not be determined because the parents refused genetic testing. The clinical manifestations included mild or severe intellectual disability, epilepsy, and behavioural abnormalities. Quantitative PCR showed that the CHD2 gene expression levels among the patients, parents, and the controls were not significantly different. The levels of REST gene expression in the patients were significantly higher than those of the controls; thus, mutation of the CHD2 gene led to an increase in the expression level of the REST gene. The mutations reported were all located in conserved positions in different species. Among the various medications administered for treatment, valproate showed the best results for the treatment of epilepsy caused by CHD2 gene mutation.Conclusion: Mutation in CHD2 did not lead to a significant decrease in its expression level, indicating that the clinical phenotype was unrelated to its expression level, and the mutant protein may retain some function. Most of the mutations relatively stable. In addition, the clinical manifestations from the same mutation in the CHD2 gene were different among the known cases; this may be related to the regulation of REST or other regulatory factors.
Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
Authors: Deng Haiyue , Zhang Yanqin , Ding Jie , Wang Fang 
Published: March 2022

BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling.MethodsPatients' clinical findings and genetic data were analysed retrospectively. An in vitro minigene assay was conducted to assess the effect of presumed COL4A3/COL4A4 missense and synonymous variants on RNA splicing.ResultsFive unclassified COL4A3/COL4A4 variants, which were detected in five of 343 patients with hereditary kidney diseases, were analysed. All of them were predicted to affect splicing by Human Splicing Finder. The presumed COL4A3 missense variant c.4793T &gt; G [p. (Leu1598Arg)] resulted in a loss of alternative full-length transcript during the splicing process. The COL4A3 transcript carried synonymous variant c.765G &gt; A [p. (Thr255Thr)], led to an in-frame deletion of exon 13. Nevertheless, variants c.3566G &gt; A [p. (Gly1189Glu)] in COL4A3 and c.3990G &gt; A [p. (Pro1330Pro)], c.4766C &gt; T [p. (Pro1589Leu)] in COL4A4 exhibited no deleterious effect on splicing. Among the five patients harbouring the abovementioned COL4A3/COL4A4 variants, three patients were genetically diagnosed with autosomal recessive Alport syndrome, one patient was highly suspected of having thin basement membrane nephropathy, and the other patient was clinically diagnosed with Alport syndrome.ConclusionsCOL4A3 presumed missense variant p. (Leu1598Arg) and synonymous variant p. (Thr255Thr) affect RNA splicing, which highlights the prime importance of transcript analysis of unclassified exonic sequence variants for better molecular diagnosis and genetic counselling. Meanwhile, the reliability of splicing predictions by predictive tools for exonic substitutions needs to be improved.
Effects of Classroom-Based Resistance Training With and Without Cognitive Training on Adolescents’ Cognitive Function, On-task Behavior, and Muscular Fitness
Authors: Robinson Katie J. , Lubans David R. , Mavilidi Myrto F. , Hillman Charles H. , Benzing Valentin , Valkenborghs Sarah R. , Barker Daniel , Riley Nicholas 
Published: March 2022

Aim: Participation in classroom physical activity breaks may improve children’s cognition, but few studies have involved adolescents. The primary aim of this study was to examine the effects of classroom-based resistance training with and without cognitive training on adolescents’ cognitive function.Methods: Participants were 97 secondary school students (45.4% females, mean age 15.78 ± 0.44). Four-year 10 classes from one school were included in this four-arm cluster randomized controlled trial. Classes were randomly assigned to the following groups: sedentary control with no cognitive training, sedentary with cognitive training, resistance training without cognitive training, and resistance training with cognitive training. Sessions varied in levels of both cognitive demand and resistance training (i.e., high vs. low) and were administered three times per week for 4 weeks (12 sessions). Inhibition, cognitive flexibility, episodic memory, on-task behavior, and muscular fitness were assessed at baseline and post-test. Linear mixed models were used to examine changes within and between groups.Results: In comparison with the control group, episodic memory improved significantly in the resistance training without cognitive training group (−9.87 units, 95% CI: −17.71 to −2.03, p = 0.014, d = 0.72). There were no group-by-time effects for inhibition or cognitive flexibility. Classroom activity breaks both with and without cognitive demand improved participants’ on-task behavior in comparison with the control and sedentary group. The resistance training programs did not lead to improvements in muscular fitness.Conclusion: Participation in body weight resistance training without cognitive training led to selective improvements in episodic memory. No training effects were found for inhibition or cognitive flexibility. A longer study period may be necessary to induce improvements in muscular fitness and associated changes in inhibition and cognitive flexibility.Clinical Trial Registration:https://www.anzctr.org.au/ACTRN12621001341819.aspx, Australian New Zealand Clinical Trials Registry—ACTRN12621001341819.
Intraoperative Injection of Normal Saline Through Lumbar Drainage for Transnasal Endoscopic Repair of Complex CSF Leaks
Authors: Wei Xiaoming , Zhang Fan , Qiu Yankai , Shen Hong , Ilyasova Tatiana , Liu Li 
Published: March 2022

ObjectiveIt is well known that accurate location of the leak in the operation is crucial for repairing cerebrospinal fluid leakage. The study aims to investigate the application of intraoperative injection of normal saline through lumbar drainage in repairing complex leaks.MethodsThe fistulas of all patients with CSF leak were located by computed tomography cisternography (CTC) or heavy T2 magnetic resonance imaging (MRI) before surgery. Before anesthesia, the patient underwent lumbar drainage implantation, and then 20 ml of normal saline was slowly injected through the lumbar drainage to observe the patient's response. The surgical approach was designed based on the preoperative imaging data. When the operation was near to the suspected fistula, normal saline was injected through lumbar drainage (20 ml each time) to confirm the leak location. After CSF leak repair, saline was injected again to confirm whether the repair was successfully.ResultOf the 5 patients with complex leaks, 4 cases were repaired by transnasal endoscopy method, and 1 case was repaired by transnasal endoscopy method and epidural method. A total of 7 leaks were found during the operation. During the operation, 40–120 ml of normal saline was injected through lumbar drainage. Cauda equina neuralgia was developed in patients who received 120 ml normal saline, which was relieved by intrathecal injection of dexamethasone. During the follow-up of 3 months, 1 case suffered from brain abscess, which was controlled by vancomycin. There was no recurrence of rhinorrhea.ConclusionIntraoperative injection of normal saline through lumbar drainage can not only better expose the complex leak but also check the repair effect of the leak during transnasal endoscopic repair, which is effective and avoids side effects.
A Novel Prognostic Factor TIPE2 in Bladder Cancer
Authors: Jiang Yu , Zhang Zhiqiang , Wang Xian , Feng Zhenzhong , Hong Bo , Yu Dexin , Wang Yi 
Published: March 2022

Objective: We sought to identify tumor necrosis factor (TNF)-alpha-induced protein 8-like 2 (TIPE2/TNFAIP8L2) expression in bladder cancer and its relationship to clinicopathological findings and prognosis.Methods: Immunohistochemical (IHC) staining for TIPE2 was performed on 110 archived radical cystectomy specimens. Ten high-power fields were randomly selected from each specimen to observe and record the percentage of immunoreactive cells of TIPE2 in tumor cells (grade 0–4) and the corresponding immunostaining intensity (grade 0–3). The expression score of TIPE2 was obtained by multiplying the results of the above two scores, which ranged from 0 to 12 points. The cut-off point of the sum of the scores were defined as follows: 0–3 scores were defined as negative expression (-); &gt;3 scores were classified as positive expression, &lt; 7, low expression, ≥7, high expression.Results: In 110 cases, TIPE2 was stained in various degrees in bladder cancer tissues, and expressed in both nucleus and cytoplasm. 4.5% (5/110) showed negative expression, 40.9% (45/110) showed low expression, and 54.5% (60/110) showed high expression. TIPE2 expression was negatively correlated with lymph node metastasis (p = 0.004) and disease progression (p = 0.021). Survival curves were plotted to show that patients with high TIPE2 expression had a progression-free survival curve above those with negative/low TIPE2 expression (p = 0.027). In multivariate Cox proportional hazard regression analysis, TIPE2 was a protective factor for progression-free survival in bladder urothelial carcinoma (p = 0.031), pT stage (p = 0.016) was a risk factor for progression-free survival, and age was a risk factor for overall survival (p = 0.020).Conclusion: TIPE2 may be a new biomarker to predict the disease progression and prognosis of patients with urothelial carcinoma of the bladder.
Differences between Treadmill and Cycle Ergometer Cardiopulmonary Exercise Testing Results in Triathletes and Their Association with Body Composition and Body Mass Index
Authors: Price Szymon , Wiecha Szczepan , Cieśliński Igor , Śliż Daniel , Kasiak Przemysław Seweryn , Lach Jacek , Gruba Grzegorz , Kowalski Tomasz , Mamcarz Artur 
Published: March 2022

Cardiopulmonary exercise testing (CPET) is the method of choice to assess aerobic fitness. Previous research was ambiguous as to whether treadmill (TE) and cycle ergometry (CE) results are transferrable or different between testing modalities in triathletes. The aim of this paper was to investigate the differences in HR and VO2 at maximum exertion between TE and CE, at anaerobic threshold (AT) and respiratory compensation point (RCP) and evaluate their association with body fat (BF), fat-free mass (FFM) and body mass index (BMI). In total, 143 adult (n = 18 female), Caucasian triathletes had both Tr and CE CPET performed. The male group was divided into <40 years (n = 80) and >40 years (n = 45). Females were aged between 18 and 46 years. Body composition was measured with bioelectrical impedance before tests. Differences were evaluated using paired t-tests, and associations were evaluated in males using multiple linear regression (MLR). Significant differences were found in VO2 and HR at maximum exertion, at AT and at RCP between CE and TE testing, in both males and females. VO2AT was 38.8 (±4.6) mL/kg/min in TE vs. 32.8 (±5.4) in CE in males and 36.0 (±3.6) vs. 32.1 (±3.8) in females (p < 0.001). HRAT was 149 (±10) bpm in TE vs. 136 (±11) in CE in males and 156 (±7) vs. 146 (±11) in females (p < 0.001). VO2max was 52 (±6) mL/kg/min vs. 49 (±7) in CE in males and 45.3 (±4.9) in Tr vs. 43.9 (±5.2) in females (p < 0.001). HRmax was 183 (±10) bpm in TE vs. 177 (±10) in CE in males and 183 (±9) vs. 179 (±10) in females (p < 0.001). MLR showed that BMI, BF and FFM are significantly associated with differences in HR and VO2 at maximum, AT and RCP in males aged >40. Both tests should be used independently to achieve optimal fitness assessments and further training planning.
Criterion Validity of Radon Test Values Reported by a Commercial Laboratory versus the Environmental Protection Agency
Authors: Schwartz Gary G. , Klug Marilyn G. , Williamson Mark R. , Schwartz Heather M. 
Published: March 2022

Objective: Radon exposure is a proven cause of lung cancer and is a possible cause of other diseases. Recently, several ecologic studies explored the correlation of county-wide incidence rates for non-lung cancers with residential radon levels, using radon data reported by a commercial laboratory. However, the validity of the commercial radon data, i.e., whether they are an accurate representation of the radon levels in the counties from which they were drawn, is unknown. Methods: We compared county-wide radon data from the commercial laboratory with corresponding measurements from the same counties reported previously by the Environmental Protection Agency (EPA). Matching data were available for four states, Iowa, North Dakota, Texas, and Wisconsin, and were compared by paired t-tests. Criterion validity of the commercial tests, i.e., how well the commercial data predicted the EPA data, was tested using non-parametric methods, Kendall’s tau, Lin’s concordance, and Passing–Bablok regression. Results: The commercial and EPA data pairs from the four states were significantly positively correlated, although the size of the correlations was modest (tau = 0.490, Lin = 0.600). Passing–Bablok regression indicated that the commercial radon values were significantly higher than their EPA pairs and significantly overestimated radon at low levels (<4 pCi/L, p < 0.001). Conclusions: The commercial laboratory data were moderately predictive of EPA radon levels at the county level but were significantly biased upwards at low levels. The disagreement likely has several causes, including selection bias from homes that were tested voluntarily. Ecologic studies that employ radon data obtained from commercial laboratories should be interpreted with caution.
Short-Term Exposure to Thermophilic Temperatures Facilitates CO Uptake by Thermophiles Maintained under Predominantly Mesophilic Conditions
Authors: Wilson Caitlin K. , King Gary M. 
Published: March 2022

Three phylogenetically and phenotypically distinct CO-oxidizing thermophiles (Alicyclobacillus macrosporangiidus CPP55 (Firmicutes), Meiothermus ruber PS4 (Deinococcus-Thermus) and Thermogemmatispora carboxidovorans PM5T (Chloroflexi)) and one CO-oxidizing mesophile (Paraburkholderia paradisi WAT (Betaproteobacteria)) isolated from volcanic soils were used to assess growth responses and CO uptake rates during incubations with constant temperatures (25 °C and 55 °C) and during multi-day incubations with a temperature regime that cycled between 20 °C and 55 °C on a diurnal basis (alternating mesophilic and thermophilic temperatures, AMTT). The results were used to test a conjecture that some thermophiles can survive in mesothermal habitats that experience occasional thermophilic temperatures. Meiothermus ruber PS4, which does not form spores, was able to grow and oxidize CO under all conditions, while the spore-forming Alicyclobacillus macrosporangiidus CPP55 grew and oxidized CO during the AMTT regime and at 55 °C, but was not active at 25 °C. Thermogemmatispora carboxidovorans PM5T, also a spore former, only grew at 55 °C but oxidized CO during AMTT and 55 °C incubations. In contrast, the non-sporing mesophile, Paraburkholderia paradisi WAT, was only able to grow and oxidize CO at 25 °C; growth and CO uptake ceased during the AMTT incubations after exposure to the initial round of thermophilic temperatures. Collectively, these results suggest that temporary, periodic exposure to permissive growth temperatures could help maintain populations of thermophiles in mesothermal habitats after deposition from the atmosphere or other sources.
Comparative Genomic Analysis Reveals Intestinal Habitat Adaptation of Ligilactobacillus equi Rich in Prophage and Degrading Cellulase
Authors: Li Yu , Liu Chen , Liu Qing , Liu Wenjun 
Published: March 2022

Ligilactobacillus equi is common in the horse intestine, alleviates the infection of Salmonella, and regulates intestinal flora. Despite this, there have been no genomic studies on this species. Here, we provide the genomic basis for adaptation to the intestinal habitat of this species. We sequenced the genome of L. equi IMAU81196, compared this with published genome information from three strains in NCBI, and analyzed genome characteristics, phylogenetic relationships, and functional genes. The mean genome size of L. equi strains was 2.08 ± 0.09 Mbp, and the mean GC content was 39.17% ± 0.19%. The genome size of L. equi IMAU81196 was 1.95 Mbp, and the GC content was 39.48%. The phylogenetic tree for L. equi based on 1454 core genes showed that the independent branch of strain IMAU81196 was far from the other three strains. In terms of genomic characteristics, single-nucleotide polymorphism (SNP) sites, rapid annotation using subsystem technology (RAST), carbohydrate activity enzymes (CAZy), and predictions of prophage, we showed that strain L. equi JCM 10991T and strain DSM 15833T are not equivalent strains.It is worth mentioning thatthestrain of L. equi has numerous enzymes related to cellulose degradation, and each L. equi strain investigated contained at least one protophage. We speculate that this is the reason why these strains are adapted to the intestinal environment of horses. These results provide new research directions for the future.
Reassessing the Evidence for Time Variability in the Atmosphere of the Exoplanet HAT-P-7 b
Authors: Lally Maura , Vanderburg Andrew 
Published: March 2022

Abstract
We reassess the claimed detection of variability in the atmosphere of the hot Jupiter HAT-P-7 b, reported by Armstrong et al. Although astronomers expect hot Jupiters to have changing atmospheres, variability is challenging to detect. We looked for time variation in the phase curves of HAT-P-7 b in Kepler data using similar methods to Armstrong et al., and identified apparently significant variations similar to what they found. Numerous tests show the variations to be mostly robust to different analysis strategies. However, when we injected unchanging phase-curve signals into the light curves of other stars and searched for variability, we often saw similar levels of variations as in the HAT-P-7 light curve. Fourier analysis of the HAT-P-7 light curve revealed background red noise from stellar supergranulation on timescales similar to the planet’s orbital period. Tests of simulated light curves with the same level of noise as HAT-P-7’s supergranulation show that this effect alone can cause the amplitude and phase-offset variability we detect for HAT-P-7 b. Therefore, the apparent variations in HAT-P-7 b’s atmosphere could instead be caused by nonplanetary sources, most likely photometric variability due to supergranulation on the host star.
Nine Bright γ Doradus Variables Discovered with Ground-based Photometry
Authors: Henry Gregory W. , Fekel Francis C. , Williamson Michael H. 
Published: March 2022

Abstract
We have used precise photometric and high-dispersion spectroscopic observations to study nine candidate γ Doradus (γ Dor) stars, identified as optically variable comparison stars in our photometric studies of Sun-like stars. In this paper, we confirm these nine candidates as new γ Dor variables. All exhibit sinusoidal variability with amplitudes between 6 and 65 mmag in Johnson B and periods from 0.28 to 1.13 days. All lie in the same region of the H-R diagram as our previously confirmed γ Dor stars. Of the nine systems, one is a single-lined spectroscopic binary (SB1), two are double-lined spectroscopic binaries (SB2), and the remaining six are single stars. We present orbits for the three binary systems: HD 34415, HD 144839, and HD 182735. Their periods are 6400 days or 17.5 yr (adopted), 995 ± 7 days, and 1052.4 ± 0.2 days, respectively. We compare our photometric periods with those we derive for six of the nine stars observed with the Transiting Exoplanet Survey Satellite to strengthen the confirmation of these new γ Dor variables. Finally, because the distribution of γ Dor stars in the H-R diagram overlaps with the red edge of the δ Scuti (δ Sct) instability strip, we use our ground-based photometric results for the 73 γ Dor stars confirmed with our Automatic Photoelectric Telescopes over the past two decades to look at the incidence of hybrid δ Sct/γ Dor stars; these are highly valuable targets for asteroseismology.
Global 3D Simulation of the Upper Atmosphere of HD189733b and Absorption in Metastable He i and Lyα Lines
Authors: Rumenskikh M. S. , Shaikhislamov I. F. , Khodachenko M. L. , Lammer H. , Miroshnichenko I. B. , Berezutsky A. G. , Fossati L. 
Published: March 2022

Abstract
A 3D fully self-consistent multifluid hydrodynamic aeronomy model is applied to simulate the hydrogen-helium expanding upper atmosphere of the hot Jupiter HD189733b, and related absorption in the Lyα line and the 10830 Å line of metastable helium. We studied the influence of a high-energy stellar flux, a stellar wind, and Lyα cooling to reproduce the available observations. We found that to fit the width of the absorption profile of the 10830 Å line the escaping upper atmosphere of the planet should be close to the energy-limited escape achieved with significantly reduced Lyα cooling at the altitudes with an H i density higher than 3 × 106 cm−3. Based on the performed simulations, we constrain the helium abundance in the upper atmosphere of HD189733b to be a rather low value of He/H ∼ 0.005. We show that under the conditions of a moderate stellar wind similar to that of the Sun the absorption of the Lyα line takes place mostly within the Roche lobe due to thermal broadening at a level of about 7%. For an order of magnitude stronger wind, a significant absorption of about 15% at high blueshifted velocities of up to 100 km s−1 is generated in the bowshock region, due to Doppler broadening. These blueshifted velocities are still lower than those (∼200 km s−1) detected in one of the observations. We explain the differences between the performed observations, though not in all of the details, by stellar activity and the related fluctuations of the ionizing radiation (in the case of the 10830 Å line), and the stellar wind (in the case of the Lyα line).