Quercetin plays a neuroprotective role in inhibiting mitochondrial apoptosis by mediating JNK signaling pathway / 中国药理学通报

Aim To study the mechanism of quereetin (Que) inhibiting mitochondrial damage induced by Aβ

Colonoscopy Combined with Me-Nbi to Observe the Canceration Characteristics of Colon Polyps and the Correlation of RHOC Protein Expression.

The current study was carried out to analyze the characteristics of colon polyps canceration observed by colonoscopy combined with ME-NBI (Magnifying Endoscopy combined with Narrow-Band Imaging) and its correlation with RhoC (Ras homolog gene family, member C) protein expression. For this purpose, A total of 300 patients with colorectal polyps and cancerous lesions (192 colorectal polyps and 200 cancerous lesions) who were treated in the digestive endoscopy room of the hospital and underwent colonoscopy were selected, and they were divided into polyp group and malignant lesion according to the diagnosis results. groups, 150 cases in each group. There were 75 patients with non-adenomatous polyps and 75 patients with adenomatous polyps in the polyp group; 75 patients with high-grade neoplasia and cancerous changes in the malignant group. The microvascular structure and surface structure of the lesions were observed by colonoscopy, and the correlation between microvascular morphological characteristics and RhoC protein expression was analyzed. Results showed that the probability of positive RhoC protein expression in the polyp group was significantly lower than that in the malignant transformation group, and the difference was statistically significant (P<0.05). In the malignant transformation group, the positive rate of RhoC expression in mucosal and submucosal superficial infiltration of 150 patients with colon polyp carcinoma was lower than that in submucosal deep infiltration, and the difference was statistically significant (P<0.05). NICE (National Institute for Clinical Excellence) type 2 was diagnosed as colorectal superficial submucosal The sensitivity, specificity, and accuracy of colorectal submucosal invasion were 73.1%, 84.6%, and 83.2%, respectively; the sensitivity, specificity, and accuracy of NICE type 3 in diagnosing colorectal submucosal invasion were 74.6%, 96.8%, and 92.7%, respectively. . Type 2 and type 3 lesions with cancerous features in NICE classification were correlated with the expression of RhoC protein (P<0.05). In conclusion, NICE classification under colonoscopy combined with magnifying colonoscopy has a good effect on colorectal lesions. Differential diagnostic value, RhoC protein is highly expressed in colon cancer and is closely related to the occurrence of colon cancer and the depth of lesion invasion. With the progression of colorectal adenomas, the expression of RhoC protein in the lesions gradually increased.

Real-world Efficacy and Safety Comparison of Neoadjuvant Treatment of HER2-positive Breast Cancer with TCbHP Versus AC-THP / 肿瘤防治研究

Objective To compare the efficacy, safety, and survivability of TCbHP versus AC-THP in the neoadjuvant therapy of HER2-positive breast cancer in real-world. Methods Clinical data of patients with HER2 positive breast cancer, who have received TCbHP or AC-THP as neoadjuvant therapy and completed surgery in 11 third-class hospitals in various cities of Hebei Province, were retrospectively collected.The total pathological complete remission (tpCR) rate, the incidence of grade 3 or higher adverse reactions and the completion rate of the given approaches were compared. Results A total of 110 cases were collected, including 78 cases in the TCbHP group and 32 cases in the AC-THP group.The tpCR rate of the TCbHP group was higher than that of the AC-THP group, but the difference was not statistically significant (64.10% vs. 56.25%, P=0.441).No significant difference was found in the breast pathologic complete response (bpCR) and axillary pathologic complete response (apCR) rates between the TCbHP group and the AC-THP group (70.51% vs. 56.25%, P=0.150;78.21% vs. 84.38%, P=0.462).Exploratory analysis revealed that the tpCR rate of the TCbHP group was significantly higher than that of the AC-THP group in patients with HR-positive breast cancer (51.11% vs. 22.22%, P=0.036).As for the patients with HR-negative breast cancer, the tpCR rate of the AC-THP group tended to be higher than that of the TCbHP group (100% vs. 81.82%, P=0.088).The incidence of grade 3 or higher adverse reactions in the TCbHP group was slightly higher than that in the AC-THP group (12.82% vs. 9.38%, P=0.753).No deaths occurred in the whole group.Moreover, no significant difference was observed in the completion rate of the given approaches between the TCbHP group and the AC-THP group (92.31% vs. 90.63%, P=0.718). Conclusion In real-world clinical practice, the neoadjuvant therapy of TCbHP and AC-THP are effective, safe, and well tolerated among patients with HER2-positive breast cancer.The tpCR rate between the two approaches was not significantly different.The AC-THP regimen could also be considered as one of the optimal regimens for HER2-positive breast cancer in neoadjuvant therapy.

The estrogen-like protective effect of quercetin on Aβ / 中国药理学通报

Aim To investigate the protective effect of quercetin ( Que) through estrogen receptor a ( ERa ) on Ap25-35-induced mitochondrial damage in PC 12 cells.Methods PC 12 cells were selected as the ob¬ject of AD cytotoxic injury model.A(B25.35(20 (xmol • L 1 ) toxic injury was used and Que (40, 60, 80 (xmol • L 1 ) was added; meanwhile, 0.1 (xmol • L 1 17(3- estradiol ( 17f}-E2 ) and 50 (xmol • L 1 genistein ((yen) were used as positive control, and an 1C1182, 780 ( estrogen receptor inhibitor) pretreatment group (aP25 - 35 + 1 M-mo1 ' L_l ICI182,780, Ap25 35 + 1 (xmol • L"1 ICI182,780 +60

Effect of Tibetan medicine E-se on insulin resistance in KK-Ay mice with spontaneous type 2 diabetes / 中国药理学通报

Aim To evaluate the effect of E-se extract on insulin resistance in KK-Ay mice with spontaneous type 2 diabetes anrl explore its mechanism.Methods Ten C57/6J mice were assigned to a normal control group.Fifty KK-Ay model mice were randomly divided into model group, positive control group ( rosiglita- zone, 2.67 mg • kg 1 ), and low- ( 0.75 g • kg 1 ) , medium- ( 1.50 g • kg 1 ) , and high-dose ( 3.00 g • kg ') E-se groups, with 10 mice in each group.All mice were measured for body weight and fasting blood glucose weekly, insulin tolerance on the 32nd day, and insulin after the last administration on the 35th day, and the insulin resistance/sensitivity indexes were calculated.The pancreas was stained by hematoxylin- eosin ( HE ).Islet cell apoptosis was detected by TUNEL staining.Glucagon-like peptide-1 ( GLP-1 ) was detected by immunohistochemistry.Results j j Compared with the model group, the E-se groups showed reduced body weight, fasting blood glucose, serum insulin concentration, and insulin resistance in¬dex, elevated insulin sensitivity index, decreased le¬sion grading score of pancreatic tissues and apoptosis percentage of islet cells, and increased content of GLP- 1 protein in pancreatic tissues.Conclusions E-se ex¬tract can improve insulin resistance by reducing serum insulin level, inhibiting islet cell apoptosis, and in¬creasing the sensitivity of the body to insulin.

Early-stage language characteristics of language-related developmental diseases / 中华实用儿科临床杂志

Objective:To explore the early-stage language characteristics of children with autism spectrum disorder (ASD), global developmental delay (GDD), and developmental language disorder (DLD) at the same deve-lopmental level, thus providing references for their diagnosis.Methods:Clinical data of 719 children, involving 382 ASD patients, 198 DLD patients and 139 GDD patients presented to the Children′s Hospital Affiliated to Chongqing Medical University from January 2018 to January 2020 were retrospectively analyzed. Chi- square test was used to compare the developmental distribution of 3 groups.Variance analysis was used to analyze difference of developmental levels among 3 groups.Correlation analysis was used to analyse relationship between language and nonverbal abilities.At the same developmental, student′s t test was used to compare ASD with GDD, ASD with DLD in language ability, and difference of expression with receptive and visual related language. Results:The nonverbal developmental levels of ASD, GDD, DLD children were significantly different ( χ2=414.64, P<0.01). Language abilities were correlated with non-verbal developmental levels( r=0.60, P<0.05). The receptive and visual-related language abilities of ASD children with abnormal developmental level were more delayed compared with that of expressive language ( t=6.97, 3.58, 13.29, 6.85, 9.09, 7.27, all P<0.01). Expressive language of DLD children with normal developmental level was worse than visual-related and receptive language( t=-2.21, -3.61, all P<0.05). In GDD children with mild delayed development, receptive language was worse than expressive and visual-related language ( t=4.12, -4.24, all P<0.01), GDD children with moderate and worse development had worse visual-related and receptive language than the expression ( t=2.46, 2.68, all P<0.01). No significant differences in the expressive, receptive and visual-related language were detected in ASD and DLD children with normal development level and those with delayed development level (all P>0.05). Receptive and visual related language of ASD children with marginal delayed development level were significantly worse than those of DLD children ( t=-4.64, -4.60, all P<0.01), whereas no significant diffe-rence in the expression was detected ( P>0.05). In ASD children with mild delayed developmental level, the receptive and visual-related language were worse than those of GDD children( t=-4.11, -4.68, all P<0.01), whereas no significant difference in the expression was detected ( P>0.05). Conclusions:In early childhood, ASD children with abnormal developmental levels present severe delay in receptive and visual related language.DLD children with normal development have an obvious delay in expressive language.The language abilities of GDD children are globally delayed, especially the receptive language.In the marginal and mild delayed developmental level, ASD is featured by obvious delay of receptive and visual-related language.In normal and worse delayed development levels, the development of language in ASD, DLD and GDD children is similar.

Effects of Dasatinib on the Maturation of Monocyte-Derived Dendritic Cells Derived from Healthy Donors and Chronic Myelogenous Leukemia Patients / 中国实验血液学杂志

OBJECTIVE@#To investigate the effects of dasatinib on the maturation of monocyte-derived dendritic cells (moDCs) derived from healthy donors (HDs) and chronic myelogenous leukemia (CML) patients.@*METHODS@#Peripheral blood mononuclear cells (PBMCs) were isolated from HDs (n=10) and CML patients (n=10) who had got the remission of MR4.5 with imatinib treatment. The generation of moDCs from PBMCs was completed after 7 days of incubation in DC I culture medium, and another 3 days of incubation in DC II culture medium with or without 25 nmol/L dasatinib. On the 10th day, cells were harvested and expression of molecules of maturation related marker were assessed by flow cytometry. The CD80+CD86+ cell population in total cells was gated as DCs in the fluorescence-activated cell storting (FACS) analyzing system, then the expression of CD83, CD40 or HLA-DR in this population was analyzed respectively.@*RESULTS@#The proportion of CD80+CD86+ cells in total cells didn't show a statistical difference between HD group and patient group (89.46%±9.70% vs 87.39%±9.34%, P=0.690). Dasatinib significantly enhanced the expression of the surface marker CD40 (P=0.008) and HLA-DR (P=0.028) on moDCs derived from HDs compared with the control group, while the expression of CD83 on moDCs didn't show a significant difference between dasatinib group and the control group (P=0.428). Meanwhile, dasatinib significantly enhanced the expression of the surface marker CD40 (P=0.023), CD83 (P=0.038) and HLA-DR (P=0.001) on moDCs derived from patients compared with the control group.@*CONCLUSION@#For CML patients, the same high proportion of moDCs as HDs can be induced in vitro, which provides a basis for the application of DC-based immunotherapy strategy. Dasatinib at the concentration of 25 nmol/L can efficiently promote the maturation of moDCs derived from HDs and CML patients in vitro. Dasatinib shows potential as a DC adjuvant to be applied in DC-based immunotherapy strategies, such as DC vaccine and DC cell-therapy.

Anti-tumor Application and Pharmacological Mechanism of Xihuangwan： A Review / 中国实验方剂学杂志

Malignant tumors are currently seriously endangering human health and life， which has become one of the main causes of death in China. In modern Western medicine， they are mainly tackled by surgery， chemotherapy， and radiotherapy， but the death toll continues to rise year by year. At present， most of the anti-tumor chemotherapeutics used in clinical practice have toxic and side effects， affecting the anti-tumor efficacy and the conditions after treatment. Long-term medication will also induce drug resistance， making the good anti-tumor effect difficult to be achieved. With the vigorous development of traditional Chinese medicine （TCM）， it has played a crucial role in the fight against tumors. It is believed in TCM that "heat toxin" is one of the important causes of tumors. Therefore， the methods of clearing away heat and removing toxin are often emphasized in the treatment of tumors， and the resulting outcomes are satisfactory. There are many Chinese herbs and Chinese herbal compounds classified into the heat-clearing and toxin-removing type. Xihuangwan， a classic heat-clearing prescription， is composed of Calculus Bovis， Moschus， Olibanum， and Myrrh and has the effects of clearing away heat， removing toxin， eliminating edema， and dissipating mass， which is mainly used to treat carbuncle， pustule， scrofula， multiple abscess， and cancer caused by heat-toxin obstruction. In modern clinical practice， it has been employed in patients with lung cancer， breast cancer， gastric cancer， liver cancer， colorectal cancer， and other malignant tumors， especially during the advanced stage， as a routine or adjuvant treatment for alleviating their clinical symptoms and improving their quality of life. The main active components of Xihuangwan are pentacyclic triterpenoids （such as masticinic acids）， volatile oils， steroids （like porcine deoxycholic acid）， and bilirubin， which have been proved effective in anti-tumor. This paper reviewed the prescription source， pharmaceutical research， clinical anti-tumor research， and pharmacological mechanisms of Xihuangwan， which has provided reference for further expanding the anti-tumor applications of Xihuangwan and enhancing its secondary development.

Historical Evolution and Clinical Application of Classical Prescription Xiao Xumingtang / 中国实验方剂学杂志

Xiao Xumingtang in The Catalogue of Famous Ancient Classics （The First Batch） issued by the National Administration of Traditional Chinese Medicine is derived from the Important Prescriptions Worth a Thousand Gold for Emergency （Bei Ji Qian Jin Yao Fang） written by SUN Si-miao in the Tang dynasty. The present study systematically explored the origin， development， historical evolution， and clinical application of Xiao Xumingtang. As revealed by the results， Xiao Xumingtang as well as its analogues are primary prescriptions indicated for apoplexy before the Tang and Song dynasties and serve as the benchmark for the treatment of apoplexy. After the Song dynasty， due to the changes in the understanding of the pathogenesis of apoplexy and the limitations of the understanding of Xiao Xumingtang， its clinical application to apoplexy gradually decreased. In modern times， it has been re-recognized and applied， during which its clinical applications have undergone great changes. Its clinical applications are extensive， involving a variety of diseases related to the brain and nervous systems， such as stroke and its sequelae， peripheral facial paralysis， rheumatoid arthritis， hypertension， and other diseases related to the motor nervous system. Its primary indications are stroke and its sequelae， followed by peripheral facial paralysis. Other new indications are gradually found. This study is expected to provide references for the clinical application of Xiao Xumingtang and the transformation of new drugs.

Progress of sensory abnormality and intervention in children with autism spectrum / 中华实用儿科临床杂志

Autism spectrum disorder (ASD) is a group of neurodevelopmental behavioral disorders, with the annually increased incidence in recent years.As one of the core symptoms of ASD, sensory abnormality not only affects the skill acquisition of affected children, but also brings great pain to caregivers and families.It is shown that early intervention of sensory abnormality can significantly improve the prognosis of ASD.However, early intervention depends on the early identification and diagnosis of sensory abnormality by clinicians.This study aims to review the clinical features, assessment tools, and intervention methods of sensory abnormalities in ASD children in recent years, thus contribu-ting to the accurate and effective diagnosis, and timely intervention of ASD.

Advances in Combined Immunotherapy for Triple Negative Breast Cancer / 肿瘤防治研究

The triple-negative breast cancer has a relatively poor prognosis with limited therapeutic options. This subtype is highly immunogenetic and exhibits rich tumor infiltrated lymphocytes in the tumor microenvironment. However, immunotherapy alone is less effective as compared with the doublet of chemotherapy and immunotherapy in TNBC. The efficacy in early recurrence settings of mTNBC exceeds that in heavily treated subgroups. Meanwhile, other combinations including anti-angiogenesis, immune modulators, and PARPi elicit a promising effect. Herein, this paper reviews the progress of efficacy, safety, and the outlook in the immunotherapy of TNBC disease.

Changes of gingival thickness, gingival papilla and marginal bone resorption in patients with chronic local periodontitis after single implant restoration / 中国基层医药

Objective:To investigate the functional and structural recovery of posterior teeth in patients with chronic local periodontitis after single implant restoration.Methods:A total of 133 patients with tooth loss who need single posterior tooth fixation and implantation in Shaoxing People's Hospital from January to December 2019 were included in this study. These patients were divided into periodontitis ( n = 40) and periodontitis-free ( n = 93) groups according to whether they had chronic local periodontitis. All patients were followed up for 6 months. Probing depth (PD), gingival thickness, papilla index score (PIS), modified sulcus bleeding index (mSBI) and marginal bone resorption were compared between the two groups at 1, 3 and 6 months after implant repair. The success rate of tooth implant was compared between the two groups. Results:There was no significant difference in success rate of tooth implant between periodontitis and periodontitis-free groups [100.0% (93/93) vs. 95.0% (38/40), χ2 = 1.94, P = 0.163]. There was no significant difference in the incidence of postoperative complications between periodontitis and periodontitis-free groups [0.0% (0/93) vs. 2.5% (1/40), χ2 = 0.19, P = 0.663]. In the periodontitis group, PD was significantly greater at 3 and 6 months after surgery than that at 1 month after surgery ( t = 2.31, 4.30, P = 0.020, < 0.001). In the periodontitis group, mSBI was lower at 6 months after surgery than that at 1 month after surgery ( t = 1.97, P = 0.048). In the periodontitis-free group, mSBI was lower at 3 and 6 months after surgery than that at 1 month after surgery ( t = 3.64, 4.50, both P < 0.001). There were significant differences in PD and mSBI between periodontitis and periodontitis-free groups at 6 months after surgery ( t = 2.06, 2.13, P = 0.041, 0.035). At 6 months after surgery, marginal bone resorption in both periodontitis and periodontitis-free groups improved compared with that immediately after surgery. In the periodontitis group, marginal bone resorption at 1 month after surgery was not significantly different from that at 3 and 6 months after surgery ( t = 1.64, 0.63, P = 0.100, 0.524). In the periodontitis-free group, marginal bone resorption at 1 month after surgery was not significantly different from that at 3 and 6 months after surgery ( t = 1.70, 1.18, P = 0.088, 0.236). In the periodontitis group, gingival thickness at 1 month after surgery was not significantly different from that at 3 and 6 months after surgery ( t = 0.99, 0.49, P = 0.321, 0.620). In the periodontitis-free group, gingival thickness at 1 month after surgery was not significantly different from that at 3 and 6 months after surgery ( t = 0.87, 1.36 P = 0.379, 0.173). Gingival thickness and marginal bone resorption at 1 month after surgery were not significantly different from those at 3 and 6 months after surgery in each group ( t = 0.49, 0.39, 0.54, 0.77, 0.55, 0.38, P = 0.623, 0.693, 0.590, 0.439, 0.580, 0.699). Conclusion:Single implant restoration exhibits good short-term effects on tooth loss combined with chronic local periodontitis. Single implant restoration does not have a great impact on gingival thickness and marginal bone absorption, but it leads to a higher incidence of peri-implantitis in patients with periodontitis than in patients with healthy periodontal tissue.

Progress on the correlation between perinatal hypoxia and autism spectrum disorder / 国际儿科学杂志

The global prevalence rate of autism spectrum disorder(ASD)is 1%~1.5%, and the latest prevalence rate in the United States is 1.7%.ASD has become one of the diseases with rapid growth in the number of global diseases.In the past decade, scholars at home and abroad have noticed that hypoxia can regulate the fetal growth trajectory and increase the risk of a variety of neurological diseases, including ASD.This paper focuses on the correlation between perinatal hypoxia and the prevalence of ASD by analyzing hypoxia in epidemiology, the consistency between hypoxia neurobiology and ASD, and the possible mechanism of the association between hypoxia and ASD.Perinatal hypoxia may affect the development of children′s nervous system from epigenetics, dopamine, inflammatory factors, oxidative stress, steroids, and ultimately increase the risk of ASD.It provides an important reference for evaluating pregnancy monitoring indicators and formulating intervention, and evaluates early risk in advance.Early diagnosis and treatment can improve the prognosis of children.

[The Effect and Mechanism of Novel Telomerase Inhibitor Nilo 22 on Leukemia Cells].

OBJECTIVE: To investigate the cytotoxic effect and its mechanism of the micromolecule compound on the leukemia cells. METHODS: The cytotoxic effects of 28 Nilotinib derivatives on K562, KA, KG, HA and 32D cell lines were detected by MTT assays, and the compound Nilo 22 was screen out. Cell apoptosis and cell cycle on leukemia cells were detected by flow cytometry. The effect of compound screened out on leukemogenesis potential of MLL-AF9 leukemia mice GFP+ cells was tested by colony-forming units assays (CFU). The cytotoxic effect was further detected by transplant assays ex vivo. Telomerase activity assay, C-circle assay were used to measure the effects of compound on the length mechanism of telomere, RT-PCR was used to detected the changes of telomere. RESULTS: Nilo 22 serves as the most outstanding candidate out of 28 Nilotinib derivatives, which impairs leukemia cell lines, but spares normal hematopoietic cell line. Comparing with Nilotinib, Nilo 22 could induce the apoptosis of GFP+ cells significantly, slightly arrests the cell cycle at G0/G1 phase, and significantly inhibits colony formation and prolong the progression in MLL-AF9 leukemia mice model. The expression showed that the compound could slow the disease progression in MLL-AF9 leukemia mice significantly. Mechanistically, Nilo 22 could reduce the length of telomere by inhibiting telomerase activity and alternative lengthening of telomere (ALT). CONCLUSION: Nilo 22 shows a significant cytotoxic effect on mice and human leukemia cells, especially for drug resistance cells. Nilo 22 is a promising anti-leukemia agent to solve the common clinical problems of drug resistance and relapse of leukemia.

Histopathological and ultrastructural study of carotid atherosclerotic plaques: a study of four cases.

To clarify the characteristics and origin of the cellular components in atherosclerosis, carotid atherosclerotic plaques (CAPs) of four patients were studied by light microscopy using hematoxylin-eosin, Congo red and alpha-smooth-muscle actin stains, and by transmission electron microscopy of different regions of CAPs. By light microscopy, CAPs were composed of 1) a fibrous cap; 2) an atherosclerotic core presenting focal fibrosis, neovascularization, hemorrhage, necrosis, chondrification and ossification; and 3) a basal band composed of a hyperplasic pseudo-media and affected tunica media. Ultrastructurally, the CAPs contained a diversity of cells including fibroblasts, myofibroblasts, osteochondrocytes, vascular smooth-muscle cells, foam cells and other myoid cells characterized by varied features of the above mentioned cells. The results indicated that CAPs were derived from a proliferation of multipotential mesenchymal stem cells, leading to the presence of degenerated foam cells and lipid-laden cells.

Mibefradil reduces hepatic glucose output in HepG2 cells via Ca2+/calmodulin-dependent protein kinase II-dependent Akt/forkhead box O1signaling.

The effects and underlying mechanisms of mibefradil on gluconeogenesis and glycogenesis were investigated using insulin-resistant HepG2 human hepatocellular carcinoma cells and a mouse model of type 2 diabetes mellitus (T2DM). HepG2 cells were divided into one of four groups: control, palmitate (PA)-induced insulin-resistance (0.25 mM), low-concentration mibefradil (0.025 µM), or high-concentration mibefradil (0.05 µM). Glycogen synthesis and glucose consumption were evaluated in these HepG2 cells, and quantitative polymerase chain reaction (qPCR) and western blotting techniques were used to detect expression of forkhead box O1 (FoxO1), phosphoenolpyruvate carboxykinase (PEPCK), and glucose 6-phosphatase (G6Pase). Intracellular calcium concentrations were determined using Fluo-4 AM, and phosphorylation levels of calmodulin-dependent protein kinase II (CaMKII), protein kinase B (Akt) and FoxO1were detected by western blotting. Immunofluorescence was used for the localization and quantification of FoxO1.In vitro results were verified using a mouse model of T2DM. In HepG2 cells and mouse liver tissues, mibefradil decreased PA-induced cytoplasmic calcium levels and CaMKII phosphorylation, but increased the phosphorylation of Akt and FoxO1, thereby contributing to the cytoplasmic localization of FoxO1. Additionally, mibefradil alleviated PA-induced glucose output and insulin resistance through increased glucose consumption and glycogen synthesis, while decreasing the expression of key gluconeogenesis enzymes, including PEPCK and G6Pase. Mibefradil may help to control blood sugar levels by reducing glucose output and insulin resistance, and the mechanism of action may involve the Ca2+-CaMKII-dependent Akt/FoxO1 signaling pathway.

Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1.

Coffin-Siris syndrome1 (CSS1; Online Mendelian Inheritance in Man no. 135900) is a multiple malformation syndrome characterized by intellectual and/or developmental delay, and hypoplastic or absent fifth fingernails and/or toenails. AT-rich interaction domain-containing protein 1B (ARID1B) is the most frequently mutated gene in CSS1 and the majority of reported cases have been sporadic. Using whole-exome sequencing, the present study identified two siblings with CSS1 with a novel heterozygous co-segregating pathogenic variant in the ARID1B gene (c.3468_3471del). Additionally, the current study confirmed a 4% somatic ARID1B mosaicism in the patient's mother. The results expanded the spectrum of known ARID1B pathogenic variants. To the best of our knowledge, the present study is the first to provide experimental evidence that an ARID1B pathogenic variant can be inherited from a clinically healthy somatogonadal mosaic mother.

Bone marrow mesenchymal cells: polymorphism associated with transformation of rough endoplasmic reticulum.

To understand the behavior and function of bone-marrow mesenchymal cells (BMMCs), we overviewed the morphological presentation of BMMCs in bone-marrow granules (b-BMMCs), isolated BMMCs (i-BMMCs), and BMMCs (c-BMMCs) cultured in H4434 methylcellulose semisolid and MEM media. All samples were derived from bone-marrow aspirates of 30 patients with hematocytopenia. Light microscopy exhibited b-BMMCs and i-BMMCs characterized by abundant cytoplasm and irregular shape in bone-marrow smears, as well as c-BMMCs in culture conditions. Scanning electron microscopy demonstrated cultured c-BMMCs with a sheet-like feature enveloping hematopoietic cells. Transmission electron microscopy revealed b-BMMCs constructing a honeycomb-like structure by thin bifurcate processes among hematopoietic cells. Furthermore, i-BMMCs had bifurcate parapodiums on the surface and prominent rough endoplasmic reticulum (rER) connected with the plasmalemma of the parapodiums. The detailed images suggested that rER may serve as a membrane resource for plasmalemmal expansion in BMMCs in bone marrow.

Effect Evaluation of Strychnos nux-vomica L. with Integrative Methods for Bortezomib-Induced Peripheral Neuropathy in Multiple Myeloma Patients: A Self-Controlled Clinical Trial / 中国结合医学杂志

OBJECTIVE@#To explore the clinical effect and adverse reactions of Strychnos nux-vomica in bortezomib-induced peripheral neuropathy (BIPN) of patients with multiple myeloma (MM).@*METHODS@#A total of 19 MM patients with BIPN were enrolled and Nux Vomica Capsule (NVC, 0.4 g, thrice daily) were orally administrated for 30 days. Comparative analysis on parameters between pre- and post-therapy, including peripheral neuropathy (PN) grade, neurotoxicity score, Chinese medicine (CM) syndrome score, total neuropathy score (TNS), coagulation function, and serum nerve growth factor (NGF) levels were conducted. The adverse events were monitored.@*RESULTS@#In BIPN of MM patients who received NVC, PN grade was lowered, neurotoxicity score was obviously decreased (P⩽0.01), and both CM syndrome score and TNS were remarkably decreased (P0.05). No evident adverse reactions were observed during the course of treatment.@*CONCLUSION@#Strychnos nux-vomica L. has significantly effect with a good safety in treatment of BIPN in MM patients.

Association between serum trace elements and core symptoms in children with autism spectrum disorder: a national multicenter survey / 中国当代儿科杂志

OBJECTIVE@#To study the association of serum levels of trace elements with core symptoms in children with autism spectrum disorder (ASD).@*METHODS@#From September 2018 to September 2019, an investigation was performed for 1 020 children with ASD and 1 038 healthy children matched for age and sex in the outpatient service of grade A tertiary hospitals and special education institutions in 13 cities of China. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Childhood Autism Rating Scale (CARS) were used to assess the core symptoms of the children with ASD. The inductively coupled plasma mass spectrometry was used to measure serum levels of trace elements magnesium, iron, copper, and zinc.@*RESULTS@#The children with ASD had significantly lower serum levels of magnesium, copper, and zinc than the healthy children (@*CONCLUSIONS@#The serum levels of magnesium and zinc may be associated with core symptoms in children with ASD, which requires further studies. The nutritional status of trace elements should be monitored for children with ASD in clinical practice.