Search

Abstract This study assessed the effectiveness of case management compared to that of standard care in improving treatment outcomes for first-time antiretroviral therapy (ART) patients in Liangshan Prefecture, China. First-time ART patients (total n = 828) were divided into the Standard Care Group (SCG, n = 419) and Case Management Group (CMG, n = 409). At week 48, the CMG showed higher retention rates (97.7% vs. 93.6%), better adherence, and more complete virological responses (84.2% vs. 64.0%) compared to the SCG. These findings suggest that case management improves adherence and virological suppression in resource-limited areas, though further research is needed to confirm its broader applicability.

Pogostemon cablin essential oil (PEO), extracted from P. cablin, has anti-oxidant, anti-inflammatory, and anti-stress properties, as well as the ability to improve gastrointestinal digestion. This study aims to evaluate the effects of PEO on the performance, rumen epithelial morphology, and barrier function in heat-stressed beef cattle. Thirty-six male Jingjiang cattle at 18 months old were randomly assigned into four groups and fed a diet containing PEO at 0 (control), 50, 100, or 150 mg/kg in the feed concentrate (n = 9). All experimental cattle were fed under high temperature and humidity in summer for 60 days. The results indicated that 50 mg/kg of PEO treatment enhanced the average daily gain of beef cattle compared with the control group (P = 0.032). All PEO treatments reduced the diamine oxidase activity (P = 0.004) and malondialdehyde content (P = 0.008) in serum. In addition, the content of 70 kDa heat shock protein in the 100 mg/kg group was increased, and the activity of glutathione peroxidase and total antioxidant capacity in both 100 mg/kg and 150 mg/kg groups were enhanced compared to the control group (P

ABSTRACT Backgrounds Severe asthma is a significant health burden because children with severe asthma are vulnerable to medication‐related side effects, life‐threatening deterioration, and impaired quality of life. However, there is a lack of data to elucidate the role of inflammatory variables in asthma. This study aimed to compare the levels of inflammatory factors in serum and sputum in children with acute and stable asthma to those in healthy children and the ability to predict clinical response to azithromycin therapy. Methods This study recruited 95 individuals aged 1−3 years old and collected data from January 2018 to 2020. We examined serum and sputum inflammatory factors and constructed the least absolute shrinkage and selection operator (LASSO) model. Predictive models were constructed through multifactor logistic regression and presented in the form of column‐line plots. The performance of the column‐line diagrams was measured by subject work characteristics (ROC) curves, calibration plots, and decision curve analysis (DCA). Then, filter‐paper samples were collected from 45 children with acute asthma who were randomly assigned to receive either azithromycin (10 mg/kg, n = 22) or placebo (n = 23). Pretreatment levels of immune mediators were then analyzed and compared with clinical response to azithromycin therapy. Results Of the 95 eligible participants, 21 (22.11%) were healthy controls, 29 (30.53%) had stable asthma, and 45 (47.37%) had acute asthma. The levels of interferon‐γ (IFN‐γ), tumor necrosis factor‐a (TNF‐α), chemokine CCL22 (CCL22), interleukin 12 (IL‐12), chemokine CCL4 (CCL4), chemokine CCL2 (CCL2), and chemokine CCL13 (CCL13）were significantly higher in the acute asthma group than in the stable asthma group. A logistic regression analysis was performed using CCL22 and IL‐1 as independent variables. Additionally, IFN‐γ, TNF‐α, IL‐1, IL‐13, and CCL22 were identified in the LASSO model. Finally, we found that CCL22 and IL‐1 were more responsive in predicting the response to azithromycin treatment. Conclusion Our results show that CCL22 and IL‐1 are both representative markers during asthma symptom exacerbations and an immune mediator that can predict response to azithromycin therapy.

Abstract Background The object was to compare changes in patients undergoing lung surgery before and after COVID-19 outbreak, and to explore the impact of COVID-19 on lung surgery and its coping strategies. Method A retrospective review of patients undergoing thoracic surgery at a single institution was conducted. Group A included patients treated between January 23, 2019, and January 23, 2020, while Group B included patients treated between June 1, 2020, and June 1, 2021, at our center. We compared the reasons of seeking medical treatment, the general characteristics of patients, imaging features, pathological features, surgical methods and postoperative recovery. Result Compared to Group A, the number of patients with pulmonary nodules screened by routine check-up increased in Group B (57.6% vs 46.9%, p

Abstract Background Minimizing mortality losses due to multiple stress and obtaining maximum performance are the production goals for newly received cattle. In recent years, vaccination and metaphylaxis treatment significantly decreased the mortality rate of newly received cattle, while the growth block induced by treatment is still obvious. Assessment of blood metabolites and behavior monitoring offer potential for early identification of morbid animals. Moreover, the ruminal microorganisms’ homeostasis is a guarantee of beef steers’ growth and health. The most critical period for newly received cattle is the first-month post-transport. Therefore, analyzing rumen metagenomics, rumen metabolomics, host metabolomics, and their interaction during receiving period (1 day before transport and at days 1/4, 16, and 30 after transport) is key to revealing the mechanism of growth retardation, and then to formulating management and nutritional practices for newly received cattle. Results The levels of serum hormones (COR and ACTH), and pro-inflammatory factors (IL-1β, TNF-α, and IL-6) were highest at day 16, and lowest at day 30 after arrival. Meanwhile, the antioxidant capacity (SOD, GSH-Px, and T-AOC) was significantly decreased at day 16 and increased at day 30 after arrival. Metagenomics analysis revealed that rumen microbes, bacteria, archaea, and eukaryota had different trends among the four different time points. At day 16 post-transport, cattle had a higher abundance of ruminal bacteria and archaea than those before transport, but the eukaryote abundance was highest at day 30 post-transport. Before transport, most bacteria were mainly involved in polysaccharides digestion. At day 4 post-transport, the most significantly enriched KEGG pathways were nucleotide metabolism (pyrimidine metabolism and purine metabolism). At day 16 post-transport, the energy metabolism (glycolysis/gluconeogenesis, pyruvate metabolism) and ruminal contents of MCP and VFAs were significantly increased, but at the same time, energy loss induced by methane yields (Methanobrevibacter) together with pathogenic bacteria (Saccharopolyspora rectivirgula) were also significantly increased. At this time, the most upregulated ruminal L-ornithine produces more catabolite polyamines, which cause oxidative stress to rumen microbes and their host; the most downregulated ruminal 2',3'-cAMP provided favorable growth conditions for pathogenic bacteria, and the downregulated ruminal vitamin B6 metabolism and serum PC/LysoPC disrupt immune function and inflammation reaction. At day 30 post-transport, the ruminal L-ornithine and its catabolites (mainly spermidine and 1,3-propanediamine) were decreased, and the serum PC/LysoPC and 2',3'-cNMPs pools were increased. This is also consistent with the changes in redox, inflammation, and immune status of the host. Conclusions This study provides new ideas for regulating the health and performance of newly received cattle during the receiving period. The key point is to manage the newly received cattle about day 16 post-transport, specifically to inhibit the production of methane and polyamines, and the reproduction of harmful bacteria in the rumen, therefore improving the immunity and performance of newly received cattle. Video Abstract

Abstract Atmospheric pressure fluctuation is one of the most important factors affecting the climate environment and gas emission in the fire area. To obtain the influence rule of the surface atmospheric pressure change on the gas sampling and abnormal emission in the mine closed goaf, the No. 1 coal mine in Dananhu was taken as the research object. Using Fourier transform and Fisher harmonic analysis and other statistical methods, the influence of the periodic variation of atmospheric pressure on the gas leakage and outflow in the closed goaf was studied. The results showed that there were three atmospheric pressure periods of 15.2 d, 1 d and 182.2 d, and the probability was greater than 95%. The time period with the highest number of atmospheric pressure peaks was 7:00–8:00, which accounted for 20.2% of total occurrence number in a day. And the time periods with the highest number of atmospheric pressure trough were 2:00, 15:00 and 16:00, accounting for 27.4%. The peak-to-trough transition time was mainly concentrated around 6 h, and the diurnal variation curve of atmospheric pressure was mainly bimodal. The atmospheric pressure change rate was mostly concentrated in 10–50 Pa/h. It was determined that the distance that the gas sampling pipe was pre-laid into the inner side of the closed wall should be greater than 44.4 m, and the CO concentration and atmospheric pressure in the closed goaf were both periodic and negative with atmospheric pressure. The research results have important guiding significance for the monitoring, early warning and environmental protection of the goaf.

Abstract Objective To investigate the incidence of suicide attempts among adolescents with HIV/AIDS in Liangshan Prefecture, Sichuan Province, as well as the correlation between negative life events, sleep, exercise, drug therapy and suicide attempts. Methods A total of 180 Yi adolescents aged 11–19 years with HIV/AIDS in a county of Liangshan Prefecture, Sichuan Province, China, were investigated by census. The main outcome indicators included the incidence of suicide attempts and whether negative life events, sleep, exercise, drug therapy and other factors were related to suicide attempts. Results We found that the incidence rate of suicide attempts among Yi adolescents with HIV/AIDS in Liangshan Prefecture was 13.9%. Negative life events were a risk factor for suicide attempts (OR = 1.047, p

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene (CNOT1). However, the pathophysiologic mechanism of the Vissers-Bodmer Syndrome remains unclear. Notably, this syndrome has not been previously reported in the Chinese. In this study, we utilized whole exome sequencing to identify three novel variants in the CNOT1 gene, encompassing one frameshift variant and two missense variants, in three Chinese patients mainly presenting with developmental delay, intellectual disability and/or autism. Interestingly, three patients exhibited novel manifestations including spina bifida occulta, horse-shoe kidney and café-au-lait spot. The frameshift variant, p.Gly172Alafs*5, occurring de novo, leading to a premature stop codon in the protein, was classified into pathogenic. Two missense variants c.3451A > G (p.Asn1151Asp) and c.557C > T (p.Ser186Phe) were predicted to be deleterious by multiple prediction algorithms with high conservation among a variety of species. Additionally, three-dimensional structure modeling and predicting indicated the substitution of the mutated amino acids would decrease the stability of CNOT1 protein. Given that CNOT1 is a relatively novel disease gene, we evaluated the gene-disease validity following ClinGen Standard Operating Procedure. The existing evidence substantiates a “Definitive” level of gene-disease relationship. The genetic findings provide a reliable basis for the genetic counseling of the family reproduction. Moreover, our results expand the genetic and phenotypic spectrum of CNOT1-related Vissers-Bodmer Syndrome.

This study was carried out to investigate the effects of probiotics and Chinese medicine polysaccharides (CMP) on carcase characteristics, meat quality, muscle fibre type and intramuscular fat deposition in lambs. Forty female lambs with 4-5 months old and 21.69 ± 0.46 kg were randomly divided into four groups as follows: control, probiotics, CMP and probiotics + CMP groups. The results showed that supplemental probiotics increased carcase yield, the percentage of abdominal fat and perirenal fat of lambs, the levels of moisture and intramuscular fat in Longissimus thoracis (LT) muscle and the mRNA expression of MyHC I but decreased the value of shear force, lightness (L*) and yellowness (b*) and the percentage of heneicosanoic acid (C21:0) in LT muscle compared with the control group (p

BackgroundNon-suicidal self-injury (NSSI) is a major public health concern among adolescents. Further research is needed into contributors to this behavior, in particular among adolescents with psychiatric disorders. The aim of the present study was to explore the impact of life events and emotional stress on NSSI among hospitalized psychiatric adolescents.MethodsIn this cross-sectional study, 505 Chinese psychiatric adolescent inpatients 10–19 years old completed questionnaires about sociodemographic characteristics and NSSI as well as the Adolescent Self-Rating Life Events Checklist (ASLEC), the State–Trait Anxiety Inventory Form Y, and the Center for Epidemiological Studies Depression Scale. Chi-square test was used to compare the incidence of NSSI in psychiatric adolescent patients with different sociodemographic. T-test was used to compare the total scores and dimension scores of the ASLEC, STAI-Y, and CES-D between the NSSI group and the non-NSSI group. A binary logistic regression model was built to explore the relationships among sociodemographic characteristics, questionnaire scores and NSSI.ResultsMost psychiatric adolescent inpatients (393, 77.8%) reported NSSI behavior. The higher risk for NSSI was observed among female (odds ratio [OR] 2.665, 95% confidence interval [CI] 1.575–4.510), younger adolescents (10–14 years; OR 2.021, 95% CI 1.258–3.245), with a suicide history (OR 2.479, 95% CI 1.549–3.967), or with depression symptom (OR 3.217, 95% CI 1.572–6.582) and those with higher scores of ASLEC (OR 1.019, 95% CI 1.010–1.029).ConclusionOur study in China is one of the first to apply to adolescent inpatients the diagnostic criteria of NSSI in the latest edition of the Diagnostic and Statistical Manual of Mental Disorders. Our analysis suggests that NSSI prevalence is disturbingly high among adolescents with mental illness in China. A better understanding of contributing factors, especially negative life events and negative emotions, may guide interventions that can reduce its prevalence.

Introduction The high costs of institutional care and the burdensome demands of home care are challenging for families of adults with dementia. The collaborative care model (CCM) provides a potential solution to these challenges. Leveraging advancements in mobile technologies, smartphone-based management could offer a feasible means of providing collaborative care in a community setting. Therefore, this study aims to establish a CCM for home-cared older adults with dementia to determine the best strategy to deliver collaborative care, including both the channel and frequency of delivery.Methods and analysis This study will be conducted in the communities of Chengdu city, Sichuan province, China. It is designed under the framework of implementation science. In the first stage, intervention strategies for community-dwelling older adults with dementia and their caregivers will be developed using Delphi methods and focus group interviews. The second stage will involve designing a sequential multiple assignment randomised trial to compare the effectiveness of face-to-face intervention versus a WeChat mini program-based intervention. This comparison will involve 358 pairs of older adults with dementia and their caregivers, with the frequency of intervention also assessed. Follow-up evaluations will be implemented at the 6th, 12th and 18th months post-intervention initiation. Primary outcomes encompass the proportion of patients demonstrating an improvement in quality of life and the proportion of caregivers exhibiting a reduction in caregiver burden. Analysis will be based on the intention-to-treat principle, and the generalised estimating equation approach will be used. Incremental cost-effectiveness ratios will be used to evaluate the cost-effectiveness of different delivery methods and frequencies.Ethics and dissemination This study has received approval from the Ethics Committee of West China Fourth Hospital/School of Public Health, Sichuan University (Gwll2022004). Informed consent will be obtained for all participants. The findings of the study will be disseminated through peer-reviewed scientific journals.Trial registration number ChiCTR2200057945.

Abstract Background EHV-1 is one of the most serious viral pathogens that frequently cause abortion in horses around the world. However, so far, relatively little information is available on EHV-1 infections as they occur in China. In January 2021, during an abortion storm which occurred in Yili horses at the Chinese State Studs of Zhaosu (North Xinjiang, China), 43 out of 800 pregnant mares aborted. Results PCR detection revealed the presence of EHV-1 in all samples as the possible cause of all abortions, although EHV-4, EHV-2 and EHV-5 were also found to circulate in the aborted fetuses. Furthermore, the partial ORF33 sequences of the 43 EHV-1 shared 99.3–100% and 99.0–100% similarity in nucleotide and amino acid sequences respectively. These sequences not only indicated a highly conserved region but also allowed the strains to group into six clusters. In addition, based on the predicted ORF30 nucleotide sequence, it was found that all the strains carried a guanine at the 2254 nucleotide position (aspartic acid at position 752 of the viral DNA polymerase) and were, therefore, identified as neuropathogenic strains. Conclusion This study is the first one that establishes EHV-1 as the cause of abortions in Yili horses, of China. Further characterization of the ORF30 sequences revealed that all the EHV-1 strains from the study carried the neuropathogenic genotype. Totally, neuropathogenic EHV-1 infection in China’s horse population should be concerned although the virus only detected in Yili horse abortions.

Pathogenic variants in the nuclear receptor superfamily 4 group A member 2 (NR4A2) cause an autosomal dominant neurodevelopmental disorder with or without seizures. Here, we described two patients presenting with developmental delay, language impairment, and attention-deficit hyperactivity disorder. Trio-based whole exome sequencing revealed two novel heterozygous variants, c.1541-2A > C and c.915C > A, in NR4A2. Both variants were identified as de novo and confirmed by Sanger sequencing. In vitro functional analyses were performed to assess their effects on expression of mRNA or protein. The canonical splicing variant c.1541-2A > C caused aberrant splicing, leading to the retention of intron 7 and a truncated protein due to an early termination codon within intron 7 with decreased protein expression, while the variant c.915C > A was shown to result in a shorter protein with increased expression level unexpectedly. The clinical and genetic characteristics of the previously published patients were briefly reviewed for highlighting the potential link between mutations and phenotypes. Our research further confirms that NR4A2 is a disease-causing gene of neurodevelopmental disorders and suggests alterations in different domains of NR4A2 cause various severity of symptoms.

BackgroundAdolescents with immature mind and unstable emotional control are high-risk groups of non-suicidal self-injury (NSSI) behavior. We meta-analyzed the global prevalence of NSSI and prevalence of NSSI characteristics in a non-clinical sample of adolescents between 2010 and 2021.MethodsA systematic search for relevant articles published from January 1, 2010 to June 30, 2021 was performed within the scholarly database search engines of CBM, CNKI, VIP, Wanfang, PubMed, Web of Science, PsycINFO, and Embase. Eligibility criteria were as follows: provided cross-sectional data on the prevalence of NSSI; the subjects were non-clinical sample adolescents; and a clear definition of NSSI was reported. We used the following definiton of NSSI as our standard: the deliberate, self-inflicted destruction of body tissue, such as cutting, burning, and biting, without attempted suicide. The quality evaluation tool for cross-sectional studies recommended by the JBI was used. The global prevalence of NSSI was calculated based on the random-effects model by Comprehensive Meta-analysis version 3.0. Subgroup analyses were performed to compare the prevalence according to sex, living place, smoking or drinking history, and family structure.ResultsSixty-two studies involving 264,638 adolescents were included. The aggregate prevalence of NSSI among a non-clinical sample of adolescents was similar between over a lifetime (22.0%, 95% CI 17.9–26.6) and during a 12-month period (23.2%, 95% CI 20.2–26.5). Repetitive NSSI was more common than episodic NSSI (20.3% vs. 8.3%) but the frequency of mild injury (12.6%) was similar to that of moderate injury (11.6%). Multiple-method NSSI occurred slightly more often compared than one-method NSSI (16.0% vs. 11.1%). The top three types of NSSI in adolescents were banging/hitting (12.0%, 95% CI 8.9–15.9), pinching (10.0%, 95% CI 6.7–14.8), and pulling hair (9.8%, 95% CI 8.3–11.5), and the least common type was swallowing drugs/toxic substances/chemicals (1.0%, 95% CI 0.5–2.2). Subgroup analyses showed that being female, smoking, drinking, having siblings, and belonging to a single-parent family may be linked to higher prevalence of NSSI.ConclusionThis meta-analysis found a high prevalence of NSSI in non-clinical sample of adolescents, but there are some changes in severity, methods, and reasons. Based on the current evidence, adolescents in modern society are more inclined to implement NSSI behavior by a variety of ways, which usually are repetitive, and moderate and severe injuries are gradually increasing. It is also worth noting that adolescents with siblings or in single-parent families are relatively more likely to implement NSSI behavior due to maladjustment to the new family model. Future research needs to continue to elucidate the features and risk factors of NSSI so as to intervene in a targeted way.LimitationThe limitation of this study is that the heterogeneity among the included studies is not low, and it is mainly related to Chinese and English studies. The results of this study should be used with caution.Systematic review registration[www.crd.york.ac.uk/prospero/], identifier [CRD42022283217].

To investigate the effect of Puerarin on intramuscular fat deposition in heat-stressed beef cattle and its underlying mechanism. Thirty-two healthy Jinjiang bulls were randomly divided into four groups and dietary with 0 (Control), 200 (Pue200), 400 (Pue400), and 800 (Pue800) mg/kg Puerarin in the feed concentrate. The results showed that Puerarin treatment enhanced the concentration of crude fat, fatty acid (C14:1 and C17:1), and the activity of fatty acid synthase in Longissimus thoracis (LT), but decreased the levels of blood leptin (P < 0.05). High-throughput sequencing of mRNA technology (RNA-Seq) was used and the analysis showed that 492 genes were down-regulated and 341 genes were up-regulated in LT, and these genes were significantly enriched to the pathways related to lipid metabolism. These results indicated that dietary supplemental with Puerarin enhanced intramuscular fat deposition by regulating lipid metabolism of heat-stressed beef cattle.

This study aims to investigate the effects of probiotics and Chinese medicine polysaccharides (CMPs) on growth performance, blood indices, rumen fermentation, and bacteria composition in lambs. Forty female lambs were randomly divided into four groups as follows: control, probiotics, CMP, and compound (probiotics + CMP) groups. The results showed that probiotics treatment increased the concentrations of blood glucose (GLU) and immunoglobulin G (IgG) and enhanced rumen microbial protein contents but declined the value of pH in rumen fluid compared with the control (P < 0.05). Furthermore, supplementation with CMP enhanced the average daily gain (ADG) and the contents of IgA, IgG, and IgM in the serum but decreased the F:G ratio compared with the control (P < 0.05). Besides, both CMP and compound (probiotics + CMP) treatments decreased the ratio of acetic acid and propionic acid compared with the control (P < 0.05). High-throughput sequencing data showed that at the genus level, the relative abundance of Veillonellaceae_UCG-001 in the probiotics group was increased, the relative abundance of Succiniclasticum and norank_f__Muribaculaceae in the CMP group were enhanced, and the relative abundance of Ruminococcaceae_UCG-002 in the compound group was raised compared with the control (P < 0.05). In summary, supplementation with probiotics can promote rumen protein fermentation but decrease the diversity of bacteria in rumen fluid; however, CMP treatment increased the relative abundance of Fibrobacteria, changed rumen microbial fermentation mode, increased the immune function, and ultimately improved the growth performance.

Mutations in TRAF7 cause developmental delay and cardiac, facial, digital anomalies. c.1964G > A variant was most recurrent, suggesting its essentiality of pathogenicity. Further studies to determine the underlying mechanism of c.1964G > A variant are warranted. But no patient-specific cellular models have been generated. Here, we generated an iPSC line with c.1964G > A variant (SHCMDLi001-A) and a line from healthy individual (SHCMDLi002-A). Characterization of SHCMDLi001-A and SHCMDLi002-A demonstrated these iPSCs are free of exogenous reprogramming genes, expressed pluripotency markers, exhibited a normal karyotype and were potential of three germ layer differentiation. These lines provide a valuable resource for studying disease-causing mechanism of TRAF7 variant.

The experiment was conducted to investigate the effects of dietary supplementation with Puerarin on meat quality, muscle antioxidant ability, and muscle fiber characteristics of beef cattle under a hot environment in summer. Thirty-two 15 ± 1.5-month-old Jinjiang bulls (291.65 ± 8.84 kg) were randomly divided into four groups with dietary Puerarin at 0 (control), 200 (Pue200), 400 (Pue400), and 800 (Pue800) mg/kg in the feed concentrate (n = 8). The feeding trial lasted for 60 days after a 10-day adaptation period (July 1–September 8); the average values of temperature, relative humidity and temperature, and humidity index were 30.68°C, 68.05%, and 81.81, respectively. The growth performance on day 40 of the experiment period was calculated. After 60 days' experimental period, four Jinjiang cattle per treatment from the control group, Pue400 group, and Pue800 group were slaughtered. Compared with the control group, the Pue400 and Pue800 groups improved the growth performance of beef cattle; the Pue800 group elevated the activities of superoxide dismutase, total antioxidant capacity, and glutathione peroxidase in the M. longissimus thoracis (LT) muscle. In the control group, the cell membrane was incomplete, and most of the mitochondria were elongated and in a fission state, while in the Pue400 and Pue800 groups, the cell membrane was clear and complete, and the mitochondria presented with round and oval shapes. Compared with the control group, the Pue400 and Pue800 groups reduced the shear force of the LT muscle, and the Pue400 group decreased the muscle fiber diameter and the myosin heavy-chain (MyHC)-IIb gene expression. Furthermore, the Pue400 and Pue800 groups decreased the ratio of AMP/ATP, the Pue800 group reduced the AMP-activated protein kinase α2 mRNA expression, and the Pue400 group improved the nuclear respiratory factor 1 mRNA expression. These results indicated that dietary supplementation with Puerarin might be beneficial to the meat quality of heat-stressed beef cattle by improving muscle antioxidant ability and reducing the MyHC-IIb muscle fiber composition. Based on the results of this study, we recommended 400 mg/kg Puerarin in the feed concentrate of beef cattle (~300 kg) for mitigation of heat stress.

Abstract Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in WD repeat domain 45(WDR45), which is characterized by iron accumulation in the basal ganglia, however, it may be atypical in early brain MRI. Methods Whole exome sequencing was performed for five parents‐offspring trios and phenotype‐driven data analyses were conducted. All candidate variants were confirmed by Sanger sequencing. Results Here, we report five independent children presented variable degree of developmental delay, intellectual disability, and/or epilepsy. Five de novo variants of WDR45 including four novel truncating variants (one splicing variant, two nonsense variants, and one frameshift variant) were identified. Although their early brain MRI showed no obvious iron accumulation, multifocal spikes, or polyspikes in electroencephalograms (EEG) were observed in four patients. Conclusion Our study reports four patients with new variants in WDR45, which expands the mutation spectrum of WDR45. In addition, our findings provide an early and precise diagnosis basis of BPAN, which is helpful for accurate genetic counseling and prenatal diagnosis.

Retinoblastoma (Rb) is a primary intraocular malignant tumor that occurs primarily in children, and results from loss-of-function mutations in the RB transcriptional corepressor 1 (RB1) gene. Genetic testing forms the basis of genetic counseling for affected families, as well as for clinical management of this disease. The aim of this study was to identify germline RB1 mutations and correlate the identified mutations with the clinical features of Rb patients. Genomic DNA was isolated from peripheral blood of 180 unrelated Rb patients and their parents (118 unilaterally and 62 bilaterally affected probands). Mutations in the RB1 gene, including the promoter region and exons 1–27 with flanking intronic sequences, were identified by Sanger sequencing. The samples with negative sequencing results were further subjected to methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) to detect gross deletions or duplications. Sixty-three distinct mutations were identified in 75 of the 180 (41.7%) probands. Of the 75 patients carrying RB1 mutations, 56 developed bilateral Rb, while 19 developed unilateral Rb. The total detection rates for bilateral and unilateral Rb were 90.3% (56/62) and 16.1% (19/118), respectively. Among the 75 patients, the spectrum of mutation types comprised 29.3% (22/75) nonsense mutations, 22.7% (17/75) splicing mutations, 17.3% (13/75) small insertions/deletions, 16.0% (12/75) large deletions/duplications, and 13.3% (10/75) missense mutations, while only 1% (1/75) of the mutations were in the promoter region of the RB1 gene. Age at diagnosis was significantly different (p < 0.01) between patients with positive and negative test results for germline RB1 mutations. A c.2359C > T mutation (p.R787X) was identified in identical twins, but one child was affected bilaterally and the other unilaterally. Of the five patients with deletion of the entire RB1 gene, the deletion of two patients was inherited from unaffected parents. In conclusion, in this study, we provide a comprehensive spectrum of RB1 germline mutations in Chinese Rb patients, and describe the correlations among RB1 mutations, age at diagnosis, and laterality; moreover, we report that the clinical features of individuals carrying an identical mutation in the RB1 gene were highly variable, indicating that the pathogenesis of Rb is more complicated than currently believed.

Abstract Background Congenital symmetric circumferential skin creases (CSCSC) was initially described five decades ago. Exome sequencing has recently revealed the genetic etiology of CSCSC. Pathogenic variants in TUBB (OMIM# 191130) and MAPRE2 (OMIM# 605789) have been linked to CSCSC1 (OMIM# 156610) and CSCSC2 (OMIM# 616734), respectively, in an autosomal dominant manner. Four pathogenic variants in MAPRE2 have been previously reported to be associated with CSCSC2. Methods Whole‐exome sequencing (WES) has been performed and an in‐house pipeline was used to conduct a phenotype‐driven data analysis. All candidate variants were confirmed by Sanger sequencing. Results Here we report a 2‐year‐old boy characterized by absent expressive speech, normal to mild over growth, facial dysmorphic features, remarkable circumferential skin creases on both forearms and ankles. WES disclosed a de novo missense MAPRE2 variant, c.518G>A (p.Arg173Gln), as the molecular cause of this complex phenotype. We described detailed clinical characterization of this patient and compared the available clinical data of individuals with MAPRE2 variants to demonstrate the phenotypic spectrum. Conclusion Our study reports the first patient of Asian origin with CSCSC2 due to a pathogenic mutation of MAPRE2 and expands the clinical and genetic spectrum of CSCSC2.

An experiment was conducted to determine the effects of adding different amounts of daidzein in diet on the fermentation parameters and bacterial community composition in the rumen of finishing cattle. A total of thirty head of 2-year-old finishing Xianan cattle were divided by weight into three groups and randomly allotted by group to one of three dietary treatments: (1) control; (2) 500 mg/kg daidzein and (3) 1000 mg/kg daidzein. All cattle were slaughtered to obtain rumen samples after a 80-d feeding trial. Results showed that adding 500 mg/kg daidzein reduced the operational taxonomic units (OTU) numbers, Shannon index and Chao1 index compared with control and 1000 mg/kg daidzein groups. Compared with control group at phylum level, Planctomycetos and Tenericutes were significantly more abundant in 500 mg/kg daidzein group, Verrucomicrobia and Fusobacteria were significantly rarer in 1000 mg/kg daidzein group. Compared with control group at genus level, Prevotella and Ruminococcus were significantly more abundant in 500 mg/kg daidzein group, Prevotella was significantly more abundant and Dethiosulfatibacter was significantly rarer in 1000 mg/kg daidzein group. Adding 1000 mg/kg daidzein significantly improved the total volatile fatty acids (TVFA) concentration and acetate content and significantly reduced the butyrate content compared with control group. Daidzein changed the fermentation parameters mainly by impacting the abundance of Prevotella and Ruminococcus. Current results suggest that adding 1000 mg/kg daidzein in diets can improve the rumen fermentation function for finishing Xianan cattle.

Agricultural straws, such as rice straw, wheat straw, and corn straw, are produced abundantly every year but not utilized efficiently in China. An experiment was conducted to determine the effects of recombinant xylanase on ruminal fermentation and microbial community structure in in vitro incubation of these straws. The recombinant xylanase from Lentinula edodes (rLeXyn11A) was produced in Pichia pastoris. The optimal temperature and pH for rLeXyn11A were 40°C and 4.0, respectively. The rLeXyn11A featured resistance to high temperature and showed broad temperature adaptability (>50% of the maximum activity at 20–80°C). Supplemental rLeXyn11A enhanced the hydrolysis of three agricultural straws. After in vitro ruminal incubation, regardless of agricultural straws, the fiber digestibility, acetate concentration, total volatile fatty acids (VFAs) production, and fermentation liquid microbial protein were increased by rLeXyn11A. Supplemental rLeXyn11A increased the ammonia-N concentration for corn straw and rice straw. High throughput sequencing and real-time PCR data showed that the effects of rLeXyn11A on ruminal microbial community depended on the fermentation substrates. With rice straw, rLeXyn11A increased the relative abundance of fibrolytic bacteria including Firmicutes, Desulfovibrio, Ruminococcaceae and its some genus, and Fibrobacter succinogenes. With wheat straw, rLeXyn11A increased the relative abundance of Ruminococcus_1 and its three representative species F. succinogenes, Ruminococcus flavefaciens, Ruminococcus albus. With corn straw, the fibrolytic bacteria Firmicutes, Christensenellaceae_R_7_group, Saccharofermentans, and Desulfovibrio were increased by rLeXyn11A. This study demonstrates that rLeXyn11A could enhance in vitro ruminal digestion and fermentation of agricultural straws, showing the potential of rLeXyn11A for improving the utilization of agricultural straws in ruminants.

The use of rape straw in ruminant production is limited by its high lignin content and low ruminal degradability. White rot fungi are the most efficient known degraders of lignin. Four white rot fungi were investigated for their potential to degrade lignin and improve rumen fermentation of rape straw. Solid state fermentation of the straw was carried out for 0 to 30 days to determine changes in chemical composition and in vitro rumen fermentation. Results showed that Phanerochaete chrysosporium and Lentinula edodes degraded about 45% of lignin and enhanced the in vitro organic matter digestibility (IVOMD) and volatile fatty acid production; however, about 55% of the cellulose was lost after 30 days of incubation. Ceriporiopsis subvermispora and Phlebia acerina degraded a fraction (< 30%) of lignin and cellulose, but inhibited ruminal fermentation. Fungal incubation increased the chitin content of rape straw. Regression analysis showed that the IVOMD increase depended on the combined action of neutral detergent fiber loss and chitin content increase in rape straw. This study indicates that considerations of the conversion of rape straw into ruminant feed with white-rot fungi should take into account the degradation of lignin, fiber loss, and the chitin produced along with the growth of fungi.

The present aim was to investigate the effects of traditional Chinese medicine prescriptions (TCM) on body temperature, blood physiological parameters, nutrient apparent digestibility and growth performance of beef cattle under heat stress conditions. Twenty-seven beef cattle were randomly divided into three groups as following; i) high temperature control (HTC), ii) traditional Chinese medicine prescriptions I+high temperature (TCM I) and iii) traditional Chinese medicine prescriptions II+high temperature (TCM II) (n = 9 per group). The results showed that the mean body temperature declined in TCM II treatment (p