Objective: To investigate the hematological characteristics of the rare McLeod phenotype associated with X-linked chronic granulomatous disease, KEL and XK gene analysis, identification of unexpected antibodies, serological characteristics of high-frequency antigen antibodies, and transfusion strategies. Methods: Serological methods were employed to determine the ABO, Rh, and other blood group system antigen phenotypes of the child, along with screening and identification of unexpected antibodies. The titers of high-frequency antigen antibodies were measured using tube antihuman globulin and microcolumn gel card techniques. Kell blood group typing was performed using serological and genotyping methods, while XK gene sequencing was conducted via next-generation sequencing. Peripheral blood smears from the child's mother were examined for erythrocyte morphology. Results: The child's serological results were as follows: blood group O, ccDEE, MM, Le(a-b+), JK(a+b+), Fy(a+b-), and Kell phenotype K-k+, Kp(a-b+). Plasma analysis revealed alloantibodies anti-C、e, as well as a high-frequency antigen antibody anti-KL, with titers of 512 (tube method) and 2 048 (microcolumn gel method). Genotyping results showed KEL genotype K-k+, Kp(a-b+), Js(a-b+), while XK gene NGS identified a hemizygous deletion of exons 1-3 (XK N. 01), consistent with XK: -1 or Kx-(McLeod). The mother's peripheral blood smear exhibited prominent acanthocytes. Conclusion: The hematological features of this rare McLeod phenotype with X-CGD include weakened Kell antigen expression and a complete exon deletion in the XK gene. Early clinical attention should be given to the symptoms and laboratory diagnosis of X-linked chronic granulomatous disease in pediatric patients. XK genotyping for McLeod phenotype should be prioritized to guide cautious transfusion strategies, preventing life-threatening complications due to incompatible blood products.

Transcranial temporal interference stimulation (tTIS) is a novel non-invasive transcranial electrical stimulation technique that achieves deep brain stimulation through multiple electrodes applying electric fields of different frequencies. Current studies on the mechanism of tTIS effects are primarily based on rodents, but experimental outcomes are often significantly influenced by electrode configurations. To enhance the performance of tTIS within the limited cranial space of rodents, we proposed various electrode configurations for tTIS and conducted finite element simulations using a realistic mouse model. Results demonstrated that ventral-dorsal, four-channel bipolar, and two-channel configurations performed best in terms of focality, diffusion of activated brain regions, and scalp impact, respectively. Compared to traditional transcranial direct current stimulation (tDCS), these configurations improved by 94.83%, 50.59%, and 3 514.58% in the respective evaluation metrics. This study provides a reference for selecting electrode configurations in future tTIS research on rodents.
Animals ; Transcranial Direct Current Stimulation/instrumentation* ; Electrodes ; Mice ; Computer Simulation ; Finite Element Analysis ; Brain/physiology*

Objective To explore the clinical characteristics of patients with drug-induced liver injury(DILI),so as to provide references for its diagnosis and treatment.Methods The clinical data of inpatients diagnosed as DILI in The Third Affiliated Hospital of Naval Medical University(Second Military Medical University),from Jan.2017 to Dec.2021 were retrospectively analyzed,including basic information,underlying diseases,drug use history,clinical manifestations,laboratory indexes,severity and prognosis of DILI.Results Among 145 patients with DILI,112 cases(77.24％)were hepatocellular type,25 cases(17.24％)were cholestatic type,and 8 cases(5.52％)were mixed type.The types of drugs causing DILI mainly included traditional Chinese medicine,proprietary Chinese medicine and anti-infective drugs,and the proportions were 48.72％(76/156),16.03％(25/156),and 10.26％(16/156),respectively.The common clinical manifestations of DILI patients were jaundice(76.55％),poor appetite(52.41％),and fatigue(49.66％).The levels of alanine transaminase(ALT),aspartate transaminase,alkaline phosphatase(ALP),total bilirubin(TBil),γ-glutamyl transferase and albumin(ALB),as well as the length of hospital stay and severity distribution were significantly different among different types of liver injury(all P＜0.05).The levels of ALT and ALB in the good prognosis group were significantly higher than those in the poor prognosis group,while the levels of TBil and international normalized ratio in the good prognosis group were significantly lower than those in the poor prognosis group(all P＜0.05).Multivariate analysis showed that INR was an independent predictor of the prognosis of DILI(P＜0.05).Conclusion Serum biochemistry indicators can help to identify the clinical classification and prognosis of DILI.Traditional Chinese medicine,proprietary Chinese medicine and other drugs can cause DILI.Medical staff should pay attention to it and strengthen public health education.

To investigate the clinical and pathological characteristics of duodenal-type follicular lymphoma (D-FL), and to deepen the understanding of Duodenal-type follicular lymphoma. The clinical symptoms, endoscopic features, pathologic features, immunophenotype, molecular pathological features and treatment follow-up of 18 D-FL patients diagnosed in Department of Pathology, Beijing Tiantan Hospital affiliated to Capital Medical University between January 2020 and July 2023 were summarized. A total of 18 patients with D-FL were included, including 10 males and 8 females. The median age was 49 (32-69) years respectively. Most of the patients were found during gastroenteroscopy or presented with the common gastrointestinal symptoms of stomach pain, acid reflux, vomiting and diarrhea. Most endoscopic findings were multiple small gray and white polyposis. In the pathological morphology, the mucous layer and submucous layer showed lymphoid follicular structures with full and strained follicles. The immunophenotype showed that the tumor cells strongly expressed CD20 and BCL2 and had low proliferation activity. Immunoglobulin clonal analysis of 1 case showed IgK monoclonal rearrangement (1/1). FISH showed 1 case of BCL2 gene rearrangement (1/3). All patients did not receive targeted chemotherapy and adopted a wait-and-see strategy. Median follow-up was 12 (2-34) months. This study shows that D-FL is an indolent lymphoma, which tends to occur in the duodenum and has a good prognosis.

There are three types of adipose tissue: white adipose tissue that stores energy, brown adipose tissue that expends energy, and beige adipose tissue which results from the browning of white adipose tissue. Research has established that adipose tissue is vital for energy metabolism. However, the complex regulatory mechanisms limit the development of effective therapeutic strategies for obesity and related metabolic diseases. This review explores the characteristics and functions of adipose tissue types, emphasizing the role of central hypothalamic nuclei in regulating peripheral adipose tissue function Additionally, it provides a summary and comparison of current research on leveraging brown and beige adipose tissue thermogenesis as a treatment for metabolic diseases, offering insights for the advancement of targeted therapies for obesity and related disorders.

Objective To provide the evidence for clinical medication safety by the investigation of the risk factors of linezolid-related thrombocytopenia in cancer patients in the department of hepatobiliary surgery. Methods Patients who received linezolid for anti-infective treatment from January 2017 to December 2021 were selected. The patients were divided into thrombocytopenia group and non-thrombocytopenia group according to whether thrombocytopenia occurred or not after administration of linezolid. The general data and laboratory indicators of the two groups were compared, and the risk factors of linezolid-related thrombocytopenia were screened by multivariate logistic regression analysis. Results A total of 104 patients were included in the study, including 84 patients who underwent surgery and 20 patients who did not. The incidence of linezolid-related thrombocytopenia was 24.0%. There were significant differences in gender, age, duration of linezolid use, platelet count, white blood cell count, alanine aminotransferase(ALT), aspartate aminotransferase(AST), total bilirubin, creatinine, estimated glomerular filtration rate between the two groups (P<0.05); logistic regression analysis suggested that age ≥60 years (OR=7.093; P=0.017), duration of linezolid use ≥12 days (OR=4.399; P=0.035), baseline platelet count ≤200×10⁹/L (OR=8.470; P=0.004), baseline AST≥50 U/L (OR=15.465; P<0.001), and baseline white blood cell count ≥11×10⁹/L (OR=11.436; P=0.001) were the risk factors for linezolid-related thrombocytopenia in cancer patients. Conclusion During the treatment of linezolid in cancer patients, attention should be paid to the adverse reactions of thrombocytopenia in the patients, especially those with old age, long-term treatment, low baseline platelets, poor baseline liver function, and high baseline white blood cell counts.

【Objective】 To explore the relationship of histone deacetylase 4 (HDAC4) gene rs1108519 and rs3791398 polymorphisms with essential hypertension. 【Methods】 Totally 212 patients with essential hypertension were selected, and 212 healthy people were matched as the control group according to the principle of the same sex and age of ±2 years. Sanger sequencing was used to determine the genotype. SPSS22.0 software was used to compare and analyze the relationship of clinical data and gene polymorphisms with essential hypertension. 【Results】 ① Compared with those in the control group, age, BMI, pulse pressure difference, mean arterial pressure, uric acid, triglyceride, RV5, and RV5+SV1 were higher, heart rate was faster, and HDL was lower in hypertension group (all P<0.05). There was no significant difference in the other clinical data (all P>0.05). ② The genotype distribution of the two loci in the two groups were in accordance with Hardy-Weinberg equilibrium (all P>0.05). Compared with the control group, hypertension group had lower frequencies of genotype AA and allele A in rs1108519 locus, but higher frequencies of genotype AG, GG and allele G (all P<0.05). There was no significant difference in genotype or allele frequency distribution between the two groups at rs3791398 locus (all P>0.05). ③ After adjusting for possible confounding, the risk of hypertension in the population with AG and GG genotypes in rs1108519 locus was 5.980 times (OR=5.980, 95% CI: 1.334-26.811, P=0.019) and 2.832 times (OR=2.832, 95% CI: 1.466-5.472, P=0.002) that of AA genotype, respectively. Under the dominant model, the risk of hypertension in subjects with AG or GG genotype was 3.207 times higher than that with AA genotype (OR=3.207, 95% CI: 1.739-5.917, P<0.001). Under the recessive model, the risk of hypertension in subjects with AG or AA genotype was 19.3% of that with GG genotype (OR=0.193, 95% CI: 0.045-0.825, P=0.026). The risk of hypertension in subjects with allele G was 1.816 times higher than that with allele A (OR=1.816, 95% CI: 1.281-2.575, P=0.001). There was no significant difference in the risk of hypertension among people with different genotypes and alleles at rs3791398 locus (all P>0.05). 【Conclusion】 HDAC4 gene rs1108519 locus polymorphism is related to hypertension, and the G allele may be a risk factor for the onset of essential hypertension.

Objective:To evaluate the risk factors of mortality in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD).Methods:A total of 97 patients with AECOPD in the emergency department of Beijing Friendship Hospital Affiliated to Capital Medical University from January 2018 to January 2019 were prospectively selected and followed up for 2.5 years. According to the prognosis, they were divided into survival group (82 cases) and death group (15 cases). Logistic regression analysis was used to screen the independent risk factors for death. The area under receiver operating characteristic curve (AUC) was used to analyze the prediction accuracy. Kaplan-Meier survival analysis and Cox proportional hazards regression model were used to analyze the predictive value of the prediction model for 2.5-year mortality in AECOPD patients.Results:Drinking history ( OR=4.975, P=0.046), past long-term β receptor blockers ( OR=5.486, P=0.029) and creatine kinase isoenzyme (CK-MB) level ( OR=2.008, P=0.049) were independent risk factors for death in patients with AECOPD. The AUC was 0.729, 0.715 and 0.710 respectively. The weight values of the three in the prediction model were 5, 5 and 1 respectively and the AUC was 0.834. Kaplan Meier survival analysis showed that 8 points of the prediction model could predict the 2.5-year survival rate in AECOPD patients (Log Rank P<0.001). The risk of death in AECOPD patients with score >8 was significantly higher than that of patients with score ≤8 ( HR=12.471, 95% CI: 3.735-41.643, P<0.001). Conclusions:Drinking history, past long-term β receptor blockers and CK-MB levels are independent risk factors for 2.5-year mortality in patients with AECOPD. The combination of these three factors has high predictive value for the prognosis of patients.

Objective:To explore the association between maternal passive smoking during perinatal period and congenital heart disease (CHD) in their offspring.Methods:A case-control study was designed. Data being used was based on a case-control study of congenital heart disease collected in Shaanxi province from January 2014 to December 2016. Cases under this study were perinatal infants diagnosed as CHD from 28 weeks of gestation to 7 days after birth, and fetus less than 28 weeks of gestation but diagnosed as CHD by ultrasonography. The controls would include newborn infants without any birth defects, born at the same period of the cases. Logistic regression model with confounding factors adjusted was established to analyze the association between maternal passive smoking status during perinatal period and CHD in their offspring. Subgroup analysis was carried out to explore its stability.Results:A total of 2 259 subjects, consisting 695 cases and 1 564 controls were included in this study. Passive smokers accounted for 26.76 % in the case group while only 6.01 % in the control group. After adjusting for related confounding factors, the risk of CHD in the offspring of passive smokers was 3.32 times higher than that of the non-passive smokers ( OR=3.32, 95 %CI: 2.41-4.56), during the perinatal period. Results also showed that related risk accumulated with the increase of exposure frequency to passive smoking. For mothers who smoked passively for 1-3 days per week, the risk of CHD in their offspring was 2.75 times higher than that of those non-passive smokers ( OR=2.75, 95 %CI: 1.62-4.66). For mothers who smoked passively for more than 3 days per week, the risk was 3.62 times higher than the non-passive smokers ( OR=3.62, 95 %CI: 2.48-5.29). Data from the subgroup analysis showed that the association between maternal passive smoking during perinatal period and CHD in their offspring appeared stable. Conclusions:Maternal passive smoking during perinatal period seemed a risk factor for congenital heart disease related to their offspring. Pregnant women should avoid exposure to second-hand smoke as much as possible, so as to prevent the harm from passive smoking.

Objectives:To analyze the epidemiological characteristics and levels of vitamin B 12 and folate as well as their relationship in women awaiting delivery, in Shaanxi province. Methods:Data were collected from healthy pregnant women who gave birth at six top hospitals in Shaanxi, from January 2014 to December 2016. Blood samples were taken prenatally to determine the levels of vitamin B 12 and folate. Quantile regression model was used to analyze the relationship between the levels of vitamin B 12 and folates in women awaiting delivery. Results:A total of 1 277 women awaiting delivery were included in this study. Among them, the median level of serum vitamin B 12 was 164.7 pg/ml, in women at late pregnancy, with the deficiency rate as 69.6%, while the median level of serum folate was 7.6 ng/ml, with the deficiency rate as 12.1%. 58.4% of these women presented simple vitamin B 12 deficiency and 0.9% with simple folate deficiency. Women living in rural areas showed lower levels of both vitamin B 12 and folate than the women from the urban areas. Both the levels of vitamin B 12 and folate increased with age but were significantly lower in women under the age of 25. Among those with or without folate deficiency, the average difference in the levels of vitamin B 12 was 37.62 pg/ml. Quantile regression models showed that the vitamin B 12 levels in women with folate deficiency were significantly lower than those without, despite the different levels of vitamin B 12. This difference appeared increasing along with the increase of the vitamin B 12 levels. Conclusions:Our data showed that both vitamin B 12 and folate were deficient in women awaiting delivery, in Shaanxi. We suggest that vitamin B 12 should also be added into the folic acid supplementation program, together with the reinforcement on health education program to improve the awareness of nutrient supplementation in rural and young women. Hopefully, these strategies could increase the levels of both vitamin B 12 and folate, in the province.