The role of immune cell death in spermatogenesis and male fertility.

The male reproductive system provides a distinctive shield to the immune system, safeguarding germ cells (GCs) from autoimmune harm. The testis in mammals creates a unique immunological setting due to its exceptional immune privilege and potent local innate immunity. which can result from a number of different circumstances, including disorders of the pituitary gland, GC aplasia, and immunological elements. Apoptosis, or programmed cell death (PCD), is essential for mammalian spermatogenesis to maintain and ensure an appropriate number of GCs that correspond with the supporting capability of the Sertoli cells. Apoptosis is substantial in controlling the number of GCs in the testis throughout spermatogenesis, and any dysregulation of this process has been linked to male infertility. There is a number of evidence about the potential of PCD in designing novel therapeutic approaches in the treatment of infertility. A detailed understanding of PCD and the processes that underlie immunological infertility can contribute to the progress in designing strategies to prevent and treat male infertility. This review will provide a summary of the role of immune cell death in male reproduction and infertility and describe the therapeutic strategies and agents for treatment based on immune cell death.

The paradox of Picroside II: As a natural antioxidant, but may instead futher aggravate liver injury by exacerbating mitochondrial oxidative stress.

Background: Picroside II (PII), an iridoid glycoside extracted from the rhizomes and stems of the genus Picroside, exhibits pronounced hepatoprotective properties. Pre-administration of PII protects against acute liver injury caused by D-galactosamine (D-Gal), carbon tetrachloride (CCl4), and acetaminophen (APAP). This study aimed to elucidate the ramifications of PII administration subsequent to the initiation of acute hepatic injury. Methods: Exploring the role of PII treatment in APAP-treated cell and rat models and in D-Gal and CCl4-treated rat models. Results: In rats, APAP treatment increased serum aspartate transaminase, alanine transaminase, and alkaline phosphatase levels and decreased glutathione activity and the fluidity of the liver mitochondrial membrane. In L-02 cells, APAP exposure resulted in a decrement in membrane potential, an augmentation in the liberation of reactive oxygen species, and an acceleration of apoptotic processes. Moreover, PII pre-administration protected against D-Gal-induced acute hepatic injury and CCl4-induced chronic hepatic injury in rodent models, whereas PII administration post-injury aggravated CCl4-induced chronic hepatic injury. Conclusions: Our results suggest that the effects of PII depend on the hepatic physiological or pathological state at the time of intervention. While PII possesses the potential to avert drug-induced acute hepatic injury through the mitigation of oxidative stress, its administration post-injury may exacerbate the hepatic damage, underscoring the critical importance of timing in therapeutic interventions.

Critical Knowledge Gaps and Future Priorities Regarding the Intestinal Barrier Damage After Traumatic Brain Injury.

The analysis aims to provide a comprehensive understanding of the current landscape of research on the Intestinal barrier damage after traumatic brain injury (TBI), elucidate specific mechanisms, and address knowledge gaps to help guide the development of targeted therapeutic interventions and improve outcomes for individuals with TBI. A total of 2756 relevant publications by 13,778 authors affiliated within 3198 institutions in 79 countries were retrieved from the Web of Science. These publications have been indexed by 1139 journals and cited 158, 525 references. The most productive author in this field was Sikiric P, and the University of Pittsburgh was identified as the most influential institution. The United States was found to be the leading country in terms of article output and held a dominant position in this field. The International Journal of Molecular Sciences was identified as a major source of publications in this area. In terms of collaboration, the cooperation between the United States and China was found to be the most extensive among countries, institutions, and authors, indicating a high level of influence in this field. Keyword co-occurrence network analysis revealed several hotspots in this field, including the microbiome-gut-brain axis, endoplasmic reticulum stress, cellular autophagy, ischemia-reperfusion, tight junctions, and intestinal permeability. The analysis of keyword citation bursts suggested that ecological imbalance and gut microbiota may be the forefront of future research. The findings of this study can serve as a reference and guiding perspective for future research in this field.

The influence of physical activity on internet addiction among Chinese college students: the mediating role of self-esteem and the moderating role of gender.

OBJECTIVES: The significance of self-esteem in the relationship between physical activity and Internet addiction among college students cannot be over, as it lays a solid foundation for the prevention and control of Internet addiction. METHODS: A total of 950 college students were surveyed using the Physical Activity Rating Scale (PARS-3), Rosenberg Self-Esteem Scale (SES), and Chinese Internet Addiction Scale (CIAS-R) through a cluster random sampling method. Descriptive statistics, independent sample t-test, partial correlation analysis, mediation effect, moderation effect, and Bootstrap testing were conducted on the collected data to analyze and interpret the results. RESULTS: (1) Significant gender differences were found in the amount of physical activity and the degree of Internet addiction among college students(P&& lt;0.001); (2) Physical activity was significantly and positively correlated with self-esteem (r = 0.26, P < 0.001), but significantly and negatively correlated with Internet addiction (r=-0.23, P < 0.001); Meanwhile, self-esteem and Internet addiction were significantly and negatively related to self-esteem (r=-0.22, P < 0.001). (3) Mediating effect analyses showed that self-esteem played a partial mediating role in physical activity and Internet addiction among college students, accounting for a portion of 78.95%. (4) A moderating effect of gender on the relationship between physical activity and Internet addiction was discovered. CONCLUSION: The physical activity level of male students is significantly higher than that of female students, while the degree of internet addiction among female students is notably higher than that of male students. Physical activity can not only directly improve the issue of internet addiction among college students, but also indirectly improve it through self-esteem, with gender playing a moderating role in this process. This conclusion has practical reference significance for preventing and controlling internet addiction among college students, and provides evidence support for using physical activity as a reference solution in clinical applications. Additionally, it suggests that gender should be taken into account when preventing and intervening in internet addiction among college students, and different strategies and methods should be adopted for male and female students. Male students should be encouraged to participate more in physical activities, gradually increasing the frequency, duration, and intensity of their participation, in order to divert their attention and enhance their sense of achievement in sports, thereby reducing their use of mobile phones. For female students, on the other hand, it is important to strengthen real-life communication, change the form of sports participation, engage in group, collaborative, and different situational sports activities, and enhance their focus and attention in sports, in order to reduce their internet dependency, better guide them to use the internet reasonably, and enable them to achieve emotional release through sports.

Magnetic resonance imaging features for differentiating tuberculous from pyogenic spondylitis: a meta-analysis.

OBJECTIVE: To perform a meta-analysis comparing the MRI features of tuberculous and pyogenic spondylitis, using histopathological results and/or blood culture as the standard reference. MATERIALS AND METHODS: PubMed, Embase, Web of Science, and Cochrane Library were searched for English-language studies on the MRI features of tuberculous and pyogenic spondylitis published between January 2010 and February 2023. Risk for bias and concerns regarding applicability were assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. Pooled MRI features' proportions were calculated using a bivariate random-effects model. RESULTS: Thirty-two studies met the inclusion criteria: 21 for tuberculous spondylitis, three for pyogenic spondylitis, and eight for both. Of the nine informative MRI features comparing tuberculous spondylitis to pyogenic spondylitis, involvement of ≥ 2 vertebral bodies (92% vs. 88%, P = .004), epidural extension (77% vs. 25%, P < .001), paravertebral collection (91% vs. 84%, P < .001), subligamentous spread (93% vs. 24%, P < .001), thin and regular abscess wall (94% vs. 18%, P < .001), vertebral collapse (68% vs. 24%, P < .001), and kyphosis (39% vs. 3%, P < .01) were more suggestive of tuberculous spondylitis, while disc signal change (82% vs. 95%, P < .001) and disc height loss (22% vs. 59%, P < .001) were more suggestive of pyogenic spondylitis. CONCLUSION: Involvement of ≥ 2 vertebral vertebral bodies, soft tissue attribution, thin and regular abscess wall, vertebral collapse, and kyphosis were MRI features more common in tuberculous spondylitis, while disc signal change and height loss were more common in pyogenic spondylitis.

Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumors: a report of 15 cases in a national medical center / 中华妇产科杂志

Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.

Theta Oscillations Support Prefrontal-hippocampal Interactions in Sequential Working Memory / 神经科学通报·英文版

The prefrontal cortex and hippocampus may support sequential working memory beyond episodic memory and spatial navigation. This stereoelectroencephalography (SEEG) study investigated how the dorsolateral prefrontal cortex (DLPFC) interacts with the hippocampus in the online processing of sequential information. Twenty patients with epilepsy (eight women, age 27.6 ± 8.2 years) completed a line ordering task with SEEG recordings over the DLPFC and the hippocampus. Participants showed longer thinking times and more recall errors when asked to arrange random lines clockwise (random trials) than to maintain ordered lines (ordered trials) before recalling the orientation of a particular line. First, the ordering-related increase in thinking time and recall error was associated with a transient theta power increase in the hippocampus and a sustained theta power increase in the DLPFC (3-10 Hz). In particular, the hippocampal theta power increase correlated with the memory precision of line orientation. Second, theta phase coherences between the DLPFC and hippocampus were enhanced for ordering, especially for more precisely memorized lines. Third, the theta band DLPFC → hippocampus influence was selectively enhanced for ordering, especially for more precisely memorized lines. This study suggests that theta oscillations may support DLPFC-hippocampal interactions in the online processing of sequential information.

Relationship between dry eye disease and physical and mental health in primary and secondary school teachers / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To evaluate the relationship between dry eye disease(DED)and physical and mental health in teachers, and to explore its mechanism and propose intervention measures.METHODS:Cross-sectional study. A total of 183 teachers from three primary and secondary schools in the urban area of Linyi City, Shandong Province were enrolled in the study. DED symptoms were quantified using the ocular surface disease index(OSDI)questionnaire. A compact version of the depression, anxiety, and stress scale(DASS-21)was used to evaluate psychological state. The relationship between potential influencing factors and DED was evaluated by independent sample t-test of quantitative variables and χ2test of classified variables. Logistic regression analysis was used for multivariate analysis to determine the influencing factors of DED. Pearson correlation coefficient was used to analyze the correlation between OSDI score and depression, anxiety and stress.RESULTS: There were 183 teachers, including 44 males(24.0%)and 139 females(76.0%), aged from 22 to 57 years, with an average age of(34.2±8.6)years. The prevalence of DED was 60.0%(109/183; 95%CI 52.4%-66.7%). The prevalence of depression was 26.2%(48/183; 95%CI 19.8%-32.7%); anxiety prevalence was 39.3%(72/183; 95%CI 32.2%-46.5%); and stress prevalence was 23.0%(42/183; 95%CI 16.8%-29.1%). The univariate analysis showed that increased age, increased working years, increased visual display terminal(VDT)application time, longer written working hours, reduced sleep hours, less alcohol consumption, and high scores of depression, anxiety and stress were all factors affecting DED(all P&#x0026;#x003C;0.05). Using depression scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours, sleep time, alcohol consumption and depression score were the influencing factors of DED(all P&#x0026;#x003C;0.05); Using anxiety scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours and stress scores were the influencing factors of DED(all P&#x0026;#x003C;0.05); Using stress scores as the psychological index, multivariate Logistic regression analysis showed that years of work, VDT application time, written working hours and stress scores were the influencing factors of DED(all P&#x0026;#x003C;0.05). OSDI scores were positively correlated with depression, anxiety, and stress scores in the DED group(P&#x0026;#x003C;0.05)and across all participants(P&#x0026;#x003C;0.05). In the severe DED group, OSDI scores were positively related to depression, anxiety, and stress scores(P&#x0026;#x003C;0.05).CONCLUSION: The prevalence of DED is high among the teachers. Alcohol consumption, reduced sleep, longer working years, longer VDT usage and longer written working hours are the influencing factors of DED. In severe DED group, DED is highly correlated with depression, anxiety, and stress. We should pay attention to teachers' DED and related physical and mental health problems, and actively prevent and make early diagnosis and treatment.

Herbal Textual Research on Farfarae Flos in Famous Classical Formulas / 中国实验方剂学杂志

By consulting ancient and modern literature， the herbal textual research of Farfarae Flos has been conducted to verify the name， origin， producing area， quality evaluation， harvesting and processing methods， so as to provide reference for the development and utilization of the famous classical formulas containing Farfarae Flos. According to the research， the results showed that Farfarae Flos was first described as a medicinal material by the name of Kuandonghua in Shennong Bencaojing（《神农本草经》）， and the name was used and justified by later generations. The main origin was the folwer buds of Tussilago farfara， in addition， the flower buds of Petasites japonicus were used as medicine in ancient times. The ancient harvesting time of Farfarae Flos was mostly in the twelfth month of the lunar calendar， and the modern harvesting time is in December or before the ground freeze when the flower buds have not been excavated. Hebei， Gansu， Shaanxi are the authentic producing areas with the good quality products. Since modern times， its quality is summarized as big， fat， purple-red color， no pedicel is better. Processing method from soaking with licorice water in the Northern and Southern dynasties to stir-frying with honey water followed by micro-fire in the Ming dynasty， and gradually evolved to the modern mainstream processing method of honey processing. Based on the research results， it is suggested that the dried flower buds of T. farfara， a Compositae plant， should be selected for the development of famous classical formulas containing Farfarae Flos， and the corresponding processed products should be selected according to the specific processing requirements of the formulas， and raw products are recommended for medicinal use without indicating processing requirements.

Experimental and Numerical Investigation of Shielding Gas Behaviors in Laser Welding of TC4 Alloy.

Gas protection is a crucial part of quality control in laser welding, especially for titanium alloy, which oxidizes easily at high temperatures. Substantial experiments concerning shielding gas characteristics in the welding process have been implemented. However, the common analysis conducted is simplistic and lacks a theoretical basis. This paper presented an investigation of the shielding gas behaviors based on numerical simulation and a titanium alloy laser welding experiment. The numerical model was established and validated by experiment. Subsequently, the temperature field and gas flow fields were calculated. By combining the two fields, the threshold temperature of gas protection was determined, and the influence of shielding gas parameters on the protection effect was examined. The results revealed that the protection of the high-temperature zone was primarily influenced by the nozzle height, nozzle inner diameter, and nozzle angle, while the plasma suppression effect was mainly correlated with the nozzle inner diameter and gas flow rate. These initial findings provide scientific guidance for the better quality production of laser beam welded components made of not only titanium alloy but also other metallic materials.

Starch nanoparticles as a new ice crystal nucleator in Lactobacillus bulgaricus CICC 6097 cryoprotection.

This work aimed at studying the cryoprotective effect of starch nanoparticles (SNPs) as ice nucleators on Lactobacillus bulgaricus CICC 6097 and exploring the protective mechanism. SNPs with a diameter of 363 nm were obtained, which possessed special properties to enhance ice nucleation and blunt ice crystals edges, and can be wrapped around the surface of bacteria form a protective barrier, thus maintaining the integrity of cell membranes and improving the survivability of L. bulgaricus CICC 6097 from 36.09% to 75.56%. However, SNCs solution formed ice crystals with obvious spikes during freezing, which was harmful to bacteria survival. Therefore, SNPs addition is a possible strategy for increasing viable cell counts during freezing. To the best of our knowledge, this report is the first to demonstrate the cryoprotective effect of ice nucleator on lactic acid bacteria.

Computed tomography findings in patients with pulmonary tuberculosis and diabetes at an infectious disease hospital in China: a retrospective cross-sectional study.

BACKGROUND: This study aimed to investigate the relationship between active pulmonary tuberculosis (TB) and type 2 diabetes mellitus (T2DM) by analysing the clinical features and computed tomography (CT) findings of patients with active pulmonary TB and comorbid T2DM (TB-DM) in the LiangShan Yi regions. METHODS: We collected data from 154 hospitalised patients with TB-DM initially confirmed at an infectious disease hospital in the Liangshan Yi Autonomous Prefecture between 1 and 2019, and 31 December 2021. These were matched by sex and age ± 3 years to 145 hospitalised patients with initially confirmed pulmonary TB without comorbid T2DM (TB-NDM) over the same period. The clinical characteristics of the two groups were analysed separately. Three group-blinded radiologists independently analysed the CT findings and classified them into mild-to-moderate and severe groups. Severe chest CT lesion refers to a lesion that is less diffused or moderately dense and either exceeds the total volume of one lung, a high-density fused lesion greater than one-third of the volume of one lung, or a cavitary lesion with a maximum diameter ≥ 4 cm. RESULTS: No significant differences were observed in the presentation of clinical features. Regarding the severity of chest CT manifestation, patients with TB-DM had significantly more severe TB than those with TB-NDM (89.61% vs. 68.97%, P < 0.0001). Regarding CT findings, patients with TB-DM had higher proportions of consolidation (79.22% vs. 52.41%, P < 0.0001), cavitary lesions (85.06% vs. 59.31%, P < 0.0001), bronchiectasis (71.43% vs. 31.03%, P < 0.0001), exudative lesions (88.96% vs. 68.28%, P < 0.0001), and fibrous lesions (93.51% vs. 68.97%, P < 0.0001) than patients with TB-NDM. In conclusion, patients with TB-DM have more severe pulmonary TB CT findings than those without. There were no significant differences in the distribution of lesions in the lung lobes between TB-DM and TB-NDM patients. CONCLUSIONS: Among patients hospitalised with pulmonary TB, those with T2DM had more severe findings on chest CT than those without T2DM. However, the clinical presentation was not significantly different.

Matrix stiffness induces an invasive-dormant subpopulation via cGAS-STING axis in oral cancer.

OBJECTIVES: Dormancy is a crucial machinery for cancer cells to survive hostile microenvironment. It is considered as the major cause of post-treatment relapse and metastases. However, its regulatory mechanism in oral squamous cell carcinoma (OSCC) remains unclear. Here we sought to decipher the impacts of matrix stiffness on OSCC-cell dormancy. MATERIALS AND METHODS: Clinicopathological relevance of matrix stiffness in OSCC was analyzed in a 127 patients' cohort. Impacts of stiffness-related mechanical stress (MS) on OSCC-cell behaviors were investigated in vitro and in vivo. Transcriptomic profiling of MS induced dormant cells were performed, following by mechanistic investigations on MS-induced dormancy. The functional relevance of cGAS in OSCC were analyzed through a bioinformatic approach. RESULTS: Stiffened matrix correlated with poor survival and post-surgical recurrence in OSCC. Stiffness-related MS induces a dormant subpopulation in OSCC cells, which showed increased drug resistance, enhanced tumor repopulating ability, and an unexpected upregulation of epithelial-mesenchymal transition (EMT) and invasiveness. Mechanistically, MS caused DNA damage, resulted in activation of cGAS-STING signaling. Either blocking of cGAS or STING dramatically impeded the MS-induced production of this invasive-dormant subpopulation. Moreover, cGAS was found being central to the cell-cycle regulation and correlated with poor prognosis in OSCC. DISCUSSION: We revealed a previously unsuspected role of cGAS-STING axis in mediating the induction of an invasive-dormant subpopulation in response to mechanical cues. Our findings indicated an adaptive machinery whereby tumor cells survive and escape from harsh microenvironment. Targeting this machinery may be a potential strategy for preventing post-therapeutic recurrence and lymphatic metastasis in OSCC.

Remote Sensing Image Characteristics and Typical Area Analysis of Taiyuan Xishan Ecological Restoration Area.

The Taiyuan Xishan Ecological Restoration Zone is located in the west of Taiyuan City and belongs to the Xishan Coalfield. Due to the resource development activity of coal mining, which is caused by coal gangue accumulation, surface vegetation degradation, bare surfaces, and other phenomena, it is most common in this area. These have an impact on the surface ecology; however, after ecological restoration, the surface ecology has been greatly improved. There are many extraction models of vegetation coverage based on pixel dichotomology combined with multispectral vegetation index, but we believe that the combination of visible light vegetation index to construct models is relatively unexplored. The main problem of how to use the RGB image data in order to quickly and accurately extract vegetation coverage information is still under investigation and needs researchers' attention. In this paper, through selecting the vegetation coverage as the evaluation index of ecological restoration effect, a new RGB vegetation coverage CIVE calculation model is innovatively proposed to solve the above problem, and on the basis of this model, the vegetation cover change analysis is carried out in the Xishan ecological restoration area of Taiyuan. According to the analysis of vegetation coverage change, relevant paper data, and the characteristics of multiple historical remote sensing images, the ecological restoration area of Taiyuan Xishan is divided into six typical areas. Through empirical evaluation, we summarize and analyze these six typical areas, which can provide typical demonstration roles for other ecological restoration areas. Our findings suggest that the proposed CIVE model realizes the extraction of vegetation cover information and long-term series dynamic monitoring of vegetation coverage.

Comparison of cytokine levels in prostatic secretion between the IIIa and IIIb subtypes of prostatitis / 亚洲男科学杂志(英文版)

Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), also known as National Institutes of Health (NIH) type III prostatitis, is a common disorder with an unclear etiology and no known curative treatments. Based on the presence or absence of leukocytes in expressed prostatic secretion (EPS), CP/CPPS is classified further into IIIa (inflammatory) and IIIb (noninflammatory) subtypes. However, the severity of symptoms is not entirely consistent with the white blood cell (WBC) count. Following the preliminary finding of a link between inflammatory cytokines and CP/CPPS, we performed this clinical study with the aim of identifying cytokines that are differentially expressed according to whether the prostatitis subtype is IIIa or IIIb. We found that granulocyte colony-stimulating factor (G-CSF), interleukin-18 (IL-18), and monocyte chemoattractant protein-1 (MCP-1) levels were significantly elevated and interferon-inducible protein-10 (IP-10) and platelet-derived growth factor-BB (PDGF-BB) levels were downregulated in the EPS of patients with type IIIa prostatitis. In a word, it is a meaningful study in which we investigate the levels of various cytokines in EPS according to whether prostatitis is the IIIa or IIIb subtype. The combination of G-CSF, IL-18, MCP-1, IP-10, and PDGF-BB expression levels could form a basis for classification, diagnosis, and therapeutic targets in clinical CP/CPPS.

Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS).@*METHODS@#A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members.@*RESULTS@#The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting).@*CONCLUSION@#The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.

A new allo-aromadendrane sesquiterpene from Dendrobium nobile / 中国中药杂志

To study the chemical constituents in the non-alkaloid part of stems of Dendrobium nobile. The macroporous adsorption resin, MCI, silica gel, RP-C_(18), and Sephadex LH-20 gel, preparative thin layer chromatography, and preparative high-performance liquid chromatography(HPLC) were used to isolate and purify the compounds. The structures of the compound were determined according to the spectra data, physicochemical properties, and relevant references. A total of 8 compounds were isolated from D. nobile, which were soltorvum F(1), p-hydroxyphenylpropionic acid(2), vanillic acid(3), p-hydroxybenzoic acid(4), N-trans-cinnamic acid acyl-p-hydroxybenzene ethylamine(5),(+)-(1R,2S,3R,4S,5R,6S,9R)-2,11,12-trihydroxypicrotoxane-3(15)-lactone(6), dendronobilin H(7), soltorvum E(8). Compound 1 was a novel compound, named as soltorvum F. Compound 8 was isolated from Dendrobium species for the first time.

Comparison on anti-inflammatory activity of Gynostemma pentaphyllum processed with different methods / 中国中药杂志

The aim of this study is to investigate the effects of Gynostemma pentaphyllum dried with two different methods(air drying and heating) on inflammation in acute lung injury(ALI) mice in vivo and in vitro. Lipopolysaccharide(LPS) was sprayed into the airway of wild type C57BL/6J male mice to establish the model, and the drug was injected into the tail vein 24 h after modeling. Lung function, lung tissue wet/dry weight(W/D) ratio, the total protein concentration, interleukin 6(IL-6), IL-1β, and tumor necrosis factor-α(TNF-α) in the bronchoalveolar lavage fluid(BALF), and pathological changes of the lung tissue were used to evaluate the effects of different gypenosides on ALI mice. The results showed that total gypenosides(YGGPs) and the gypenosides substituted with one or two glycosyl(GPs_(1-2)) in the air-dried sample improved the lung function, significantly lowered the levels of IL-1β and TNF-α in BALF, and alleviated the lung inflammation of ALI mice. Moreover, GPs_(1-2) had a more significant effect on inhibiting NO release in RAW264.7 cells. This study showed that different drying methods affected the anti-inflammatory activity of G. pentaphyllum, and the rare saponins in the air-dried sample without heating had better anti-inflammatory activity.