Triple-negative breast cancer (TNBC) is a type of breast cancer that is difficult to treat, has a poor prognosis, and is prone to recurrence and metastasis in the early postoperative period. The age of patients is tending younger, and the racial difference is large. It is also related to family history, and genetic susceptibility is obvious. So, elucidating the genetic risk factors of TNBC and obtaining precise therapeutic targets are urgent tasks. Obtaining reliable characteristic genes and their polymorphisms between TNBC of different subtypes is difficult. This review summarizes the susceptibility genes and the polymorphisms of TNBC susceptibility genes of different molecular subtypes, in order to develop effective TNBC prevention strategies and find effective therapeutic targets. This review provides a theoretical basis for promoting the study of TNBC from the perspective of genetics.

Objective:To investigate the clinical characteristics, diagnosis, treatment and outcome of patients with human herpesvirus 7 (HHV-7) viral encephalitis after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:The clinical manifestations, laboratory characteristics, diagnosis and treatment process and outcome of 3 patients with HHV-7 viral encephalitis after allo-HSCT in Hebei Yanda Lu Daopei Hospital from 2018 to 2020 were retrospectively analyzed, and the related literature was reviewed.Results:The clinical features of 3 patients with HHV-7 viral encephalitis after allo-HSCT included fever, headache, vomiting, apathy, etc., without specific symptoms or signs. The conventional white blood cell count in the cerebrospinal fluid was normal or slightly higher, mainly lymphocytes, and the cerebrospinal fluid protein was normal or slightly higher. The HHV-7 virus DNA in cerebrospinal fluid was positive, and the treatment with ganciclovir or foscarnet was effective. The prognosis was favorable in two mild cases, but one case with cerebral hemorrhage died eventually.Conclusions:HHV-7 viral encephalitis is a rare infection after allo-HSCT, and it can be easily misdiagnosed due to lack of typical symptoms and indications for routine laboratory tests. The detection of HHV-7 DNA in the cerebrospinal fluid can help confirm the diagnosis. Currently, there is no standard treatment programs, but ganciclovir and foscarnet are effective.

Objective:To measure the changes in the orbital and nasal parameters before and after Tessier box osteotomy with primary aesthetic rhinoplasty concurrently with byotogenous costochondral graft.Methods:From 2013 to 2018, 60 hypertelorism patients were treated in our craniofacial center. Correction involved a classic Tessier box osteotomy combined with aesthetic augmentation and reconstruction of the nasal dorsum using a costochondral graft. All patients underwent photographic and tomographic documentation both before and 12 months after surgery. Patients underwent morphometric analysis to document the changes in interorbital distance (IOD) and aesthetic nasal parameters, including the nasal dorsum and alar width, the nasal dorsal height, and the index of nasal apex protrusion versus nasal length.Results:All patients were satisfied with the outcome of the combined orbital and nasal repair. Morphometric analysis indicated that the IOD and aesthetic nasal parameters all improved following surgery. The resorption rate of the costochondral graft was 16-19%, and graft warpage was nearly absent. Although complications so as infection, cerebrospinal fluid leak or hyposomia, no severe or life-threatening complications occurred.Conclusions:Tessier box osteotomy with primary aesthetic rhinoplasty using costochondral grafts has showed to be efficacious in the treatment of patients with hypertelorism.

Children and adults differ significantly in physiology,biochemistry and immune function,which leads to sig-nificant differences in blood transfusion strategies between children and adults.To guide the clinical transfusion practice of pediatric patients and improve the prognosis of children,the National Health Commission organized the formulation and re-lease of the health industry standard Guideline for Pediatric Transfusion(WS/T 795-2022).This paper will briefly introduce some concepts that help understand of the Standard and the preparation process of the Standard,and explain and interpret the preparation of the"scope","general provisions"and"factors to consider"of the Standard,hoping to contribute to the understanding and implementation of the Standard.

Objective:To investigate the current situation of the use of transjugular intrahepatic portosystemic shunt (TIPS) for portal hypertension, which should aid the development of TIPS in China.Methods:The China Portal Hypertension Alliance (CHESS) initiated this study that comprehensively investigated the basic situation of TIPS for portal hypertension in China through network research. The survey included the following: the number of surgical cases, main indications, the development of Early-TIPS, TIPS for portal vein cavernous transformation, collateral circulation embolization, intraoperative portal pressure gradient measurement, commonly used stent types, conventional anticoagulation and time, postoperative follow-up, obstacles, and the application of domestic instruments.Results:According to the survey, a total of 13 527 TIPS operations were carried out in 545 hospitals participating in the survey in 2021, and 94.1% of the hospital had the habit of routine follow-up after TIPS. Most hospitals believed that the main indications of TIPS were the control of acute bleeding (42.6%) and the prevention of rebleeding (40.7%). 48.1% of the teams carried out early or priority TIPS, 53.0% of the teams carried out TIPS for the cavernous transformation of the portal vein, and 81.0% chose routine embolization of collateral circulation during operation. Most of them used coils and biological glue as embolic materials, and 78.5% of the team routinely performed intraoperative portal pressure gradient measurements. In selecting TIPS stents, 57.1% of the hospitals woulel choose Viator-specific stents, 57.2% woulel choose conventional anticoagulation after TIPS, and the duration of anticoagulation was between 3-6 months (55.4%). The limitation of TIPS surgery was mainly due to cost (72.3%) and insufficient understanding of doctors in related departments (77.4%). Most teams accepted the domestic instruments used in TIPS (92.7%).Conclusions:This survey shows that TIPS treatment is an essential part of treating portal hypertension in China. The total number of TIPS cases is far from that of patients with portal hypertension. In the future, it is still necessary to popularize TIPS technology and further standardize surgical indications, routine operations, and instrument application.

Objective:To analyze the relationship between genotype and clinical phenotype of the MYH7-R453C mutation in five Chinese hypertrophic cardiomyopathy (HCM) families.Methods:A retrospective cohort study was conducted on 527 unrelated HCM probands who were first diagnosed at the First Affiliated Hospital of Air Force Medical University (Xijing Hospital) from February 2014 to July 2018, and the high-throughput whole exome targeted sequencing of 96 genes related to hereditary cardiovascular disease was performed on the probands. The probands carrying the MYH7-R453C mutation were screened out, and their family members carrying the mutation were verified using Sanger sequencing. Healthy individuals without family history of genetic diseases from the same period and ethnicity were recruited as controls. Clinical data such as echocardiography, 12-lead electrocardiogram, and cardiac magnetic resonance imaging of the probands and their family members were collected, and the correlation between patient genotype and clinical phenotype was analyzed. Endpoint or key events were recorded through hospital re-examination or telephone follow-up.Results:The MYH7-R453C mutation was detected in 5 HCM probands, and clinical data and genetic results of 20 family members, including probands, were collected. Among them, 13 carried the MYH7-R453C mutation, of which 12 were diagnosed with HCM, and one child (F1Ⅲ 5) experienced early changes of HCM. The seven family members who did not carry the MYH7-R453C mutation had normal echocardiograms and 12-lead electrocardiograms. Among the 12 patients diagnosed with HCM, 2 experienced (F2Ⅱ 7, F5Ⅰ 2) sudden cardiac death, 2 experienced (F1Ⅲ 1, F3Ⅲ 3) events of sudden cardiac death survival, 2(F1Ⅱ 2, F3Ⅱ 1) died from heart failure during the follow-up period. Combined with the initial visit and follow-up, 4 families (F1, F2, F3, F5) had a family history of sudden death, among which 3 families probands or multiple family members experiencing sudden death before the age of 30 and adverse outcomes such as implantation of implantable cardioverter-defibrillators after sudden death survival. Conclusions:In the five families with HCM carrying MYH7-R453C mutations, genotype is highly correlated with clinical phenotype, and patients have a high risk of sudden death and poor prognosis. Early diagnosis of individuals carrying the MYH7-R453C gene mutation, both within the patient′s family and in the patients themselves, is crucial for initiating early treatment, preventing sudden death, and assessing prognosis.

Objective : To investigate the effect of ginsenoside Rg1 (GRg1) on human retinal microvascular endothelial cells (HRMECs) glycolysis by regulating pyruvate kinase M2 ( PKM2) expression. Methods : HRMECs were cultured in vitro and divided into normal control (NC) group, high glucose (HG) group, high glucose + ginsenoside Rg1 (HG + GRg1) group, high glucose + ginsenoside Rg1 + low expression PKM2 ( HG + GRg1 + si-PKM2) group, and high glucose + ginsenoside Rg1 + overexpression PKM2 (HG + GRg1 + OE⁃PKM2) group. si-PKM2 and OE⁃PKM2 were transfected into HRMECs cells by cell transfection. The expression of PKM2 mRNA in HRMECs was detected by qRT⁃PCR. The expression levels of related proteins in HRMECs were detected by Western blot. The number of lumen formation in vitro was observed under an inverted microscope to quantify the angiogenesis ability. Cell culture medium of each group was collected, and glucose intake, lactate production and adenosine triphosphate(ATP)content were detected by glucose detection kit, lactate detection kit and ATP detection kit,re spectively. Results : HG induced HRMECs significantly increased the number of blood vessel formation, glycolysis and PKM2 expression, while GRg1 treatment significantly reduced the number of blood vessel formation, glycolysis and PKM2 expression; transfection of si⁃PKM2 assisted the inhibitory effect of GRg1 on glycolysis and angiogenesis while transfection of OE⁃PKM2 interfered with the function of GRg1 . Conclusion GRg1 inhibits angiogenesis by inhibiting PKM2 to reduce glycolysis of HRMECs.

Background Previous studies show that aluminum exposure could increase the expression of miRNA-134-3p, which is involved in the mechanism of aluminum induced learning and memory impairment. However, it has not been investigated whether the expression level of miRNA-134-3p in the peripheral blood of occupational aluminum exposed workers is related to the blood aluminum concentration yet. Objective To evaluate a potential correlation between aluminum concentration in peripheral blood and miR-134-3p expression in occupational aluminum exposed workers. Methods A total of 184 male aluminum workers in the electrolytic aluminum workshop, aluminum oxide workshop, and thermal power workshop of an aluminum plant in Shanxi were selected by cluster sampling. They were divided into four groups (Q₁-Q₄) according to the quartiles of blood aluminum concentration, with 46 workers in each group. The basic information of workers was collected by questionnaire survey, and the cognitive function of workers was evaluated by Montreal Cognitive Assessment (MoCA). The plasma of workers was collected, and the relative expression level of miR-134-3p in plasma was detected by real-time quantitative polymerase chain reaction (RT-PCR). The plasma aluminum concentration was detected by inductively coupled plasma mass spectrometry (ICP-MS). The associations among workers' peripheral blood aluminum concentration, plasma miR-134-3p expression level, and total MoCA score were evaluated by generalized linear models. Results The workers' medians (P₂₅, P₇₅) of blood aluminum concentration, plasma relative expression level of miR-134-3p, and MoCA score were 39.31 (25.30, 57.41) μg·L^-1, 2.93 (2.29, 3.74), and 22.0 (20.0, 26.0), respectively. The results of the generalized linear model showed that after adjusting for age, body mass index, smoking, and alcohol consumption, compared with the Q₁ group, blood aluminum in the Q₂, Q₃, or Q₄ group had an impact on related plasma miR-134-3p expression level and total MoCA score (P<0.05). With increasing blood aluminum concentration, the expression level of miR-134-3p in workers' plasma gradually increased, showing a positive correlation (b>0, P_trend<0.001), while the total score of MoCA gradually decreased, showing a negative correlation (b<0, P_trend<0.001). As the expression level of miR-134-3p in plasma increased, the total score of MoCA gradually decreased, showing a negative correlation (b<0, P_trend<0.001). There was a linear relationship between peripheral blood aluminum concentration and plasma relative expression level of miR-134-3p of the workers in the middle school and below group and the high school group (P_trend<0.05), b (95%CI)=1.796 (1.248, 2.344) and 1.192 (0.874, 1.510), and no correlation was found in the workers in the college and above group (P_trend>0.05). Conclusion Occupational aluminum exposure can lead to an increase in the expression level of miR-134-3p in plasma of workers, which may be related to a decrease in cognitive function of workers.

Objective To investigate the antioxidant activity of bamboo stem extracts and the therapeutic effect of bamboo stem water extract on oxidative inflammation induced by tert butyl hydroperoxide (t-BHP) in human colon adenocarcinoma cells (Caco-2). Methods In this study, ABTS, DPPH, and FRAP assays were used to determine the extracellular antioxidant activity of petroleum ether extract, ethyl acetate extract, n-butanol extract, 95% ethanol extract, and distilled water extract from bamboo stems. The human intestinal Caco-2 cell line was used as the model cell, and t-BHP was selected as the oxidative stress modeling agent. The CCK-8 assay was used to detect cell viability and the optimal oxidative damage concentration of t-BHP. The content of MDA, 8-OHdG, TNF-α and IL-1β were detected to assess antioxidant stress effect. Results The five extracts of bamboo all had certain antioxidant activity, among which the water extract of bamboo stem had the best comprehensive antioxidant activity with high cell viability in Caco-2 cells. The optimal modeling concentration of t-BHP was 200 μMol/L. The water extract of bamboo stem significantly reduced the content of oxidative stress related biomarkers and inflammatory factors in Caco-2 cells induced by t-BHP. Conclusion The stem extracts of bamboo in Xianning City have strong in vitro antioxidant activity. Among them, the water extract of bamboo stem has a protective effect on t-BHP induced oxidative damage in Caco-2 cells, suggesting that the water extract possesses a potential to be developed as new antioxidant products for clinical prevention and treatment of oxidative damage related diseases.