Applicability of Seven Glomerular Filtration Rate Evaluation Formulas in Dose Adjustment of High Concentration of Methotrexate Chemotherapy in Children with ALL / 中国实验血液学杂志

OBJECTIVE@#To investigate the diagnostic efficacy of seven glomerular filtration rate (GFR) evaluation formulas Schwartz2009, Schwartz1976, Counahan-Barratt, Filler, CKD-EPIscysc, Cockrofi-Gault, CKD-EPIScysC-Scr in high concentration of methotrexate (HDMTX) chemotherapy dose adjusted cut-off point (GFR ≤85 ml/min) in children with acute lymphoblastic leukemia (ALL).@*METHODS@#One hundred and twenty-four children with ALL were included in the study. GFR determined by renal dynamic imaging (sGFR) was used as the standard to evaluate the accuracy, consistency of eGFR calculated by seven formulas and sGFR, and the diagnostic efficacy of each formula when the sGFR ≤85 ml/min boundary.@*RESULTS@#All of the accuracy of eGFR estimated by Schwartz2009 were greater than 70% in the 0-3, >4 and ≤6, >6 and ≤9, >9 and ≤16 years old group and male group, and the consistency exceeded the professional threshold. When the sensitivity of the ROC curve sGFR ≤85 ml/min was 100% of CKD-EPIscysc in the 0-3, >3 and ≤4 years old group, Filler in the >3 and ≤4 years old group, and Cockrofi-Gault in the >6 and ≤9 years old group, the specificity was 73.02%, 78.95%, 78.95%, 69.32%, respectively, and the AUC under the ROC curve was the largest (P<0.05).@*CONCLUSION@#Schwartz2009 formula predicts the highest accuracy of eGFR in the 7 glomerular filtration rate. CKD-EPIscysc, Filler, and Cockrofi-Gault formulas have more guiding signi-ficance for the adjustment of HDMTX chemotherapy in pre-adolescence in children with ALL when sGFR ≤85 ml/min.

Quality status of Bombyx Batryticatus and suggestions for Chinese Pharmacopoeia (2025) / 中国中药杂志

To understand the current quality status and rearing situation of Bombyx Batryticatus, the authors collected 102 batches of Bombyx Batryticatus from different main producing areas and five major Chinese medicine markets from 2016 to 2018, and measured the properties and quality of the silk gland, to clarify the quality status of Bombyx Batryticatus from different producing areas and markets. In addition, 35 batches of Bombyx Batryticatus from 2019 to 2022 were used to verify the silk gland after revision. Moreover, Beauveria Bassiana was inoculated in the silkworm of 4-5 instars, and standardized rearing was carried out until they die. The death rate and the quality of Bombyx Batryticatus were measured to determine the differences in Bombyx Batryticatus of different instars, and explore the rationality of the infection age of Bombyx Batryticatus in Chinese Pharmacopoeia(2020). The results revealed that in the 102 batches of Bombyx Batryticatus, the qualification rate of silk gland was low; the content of total ash far exceeded the standard; the content of beauvericin varied greatly. The qualification rate of the silk gland of the 35 batches of Bombyx Batryticatus was only 47.49%, which could be increased to 73.00% if the number of silk gland was 2 to 4. The death rate of Bombyx Batryticatus at different infection ages was quite different, with uneven quality. Generally, the yield of Bombyx Batryticatus inoculated on the first day of the fifth instar was high with good quality. Therefore, in combination with the quality and actual production of Bombyx Batryticatus, the following suggestions were proposed for revision of Bombyx Batryticatus in Chinese Pharmacopoeia(2025): The number of silk gland should be revised as 2-4 bright brown or bright black silk glands, after which, the quality of Bombyx Batryticatus could be guaranteed, and the "quality identification based on character" could also be reflected scientifically; the content determination index that the content of beauvericin shall not be less than 0.017% should be added to better control the quality of Bombyx Batryticatus; the infection age should be revised as the first day of the fifth instar to narrow the age span, which could better fit the actual production and ensure the quality of Bombyx Batryticatus.

Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a pediatric patient suspected for Autosomal Recessive Congenital Ichthyosis (ARCI).@*METHODS@#Clinical data of the patient was analyzed. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Next-generation sequencing (NGS) was then carried out. Candidate variants were confirmed by Sanger sequencing. A variety of bioinformatic tools including Mutation Taster, PROVEAN, and PolyPhen2 were used to predict the pathogenicity of the variants based on guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The patient, a 1-month-and-7-day-old male, had presented with cutaneous erythema and fine scaling of the whole body. NGS revealed that he has harbored compound heterozygous variants c.1579G>A (p.Val527Met) (paternal) and c.923T>C (p.Leu308Pro) (maternal) of the ALOX12B gene. The former was known to be likely pathogenic, while the latter was unreported previously and categorized as "likely pathogenic" based on the ACMG guidelines. Based on the clinical and genetic findings, the patient was diagnosed with ARCI.@*CONCLUSION@#The c.1579G>A and c.923T>C variants of the ALOX12B genes probably underlay the ARCI in this patient. Above finding has enriched the spectrum of ALOX12B mutations and enabled molecular diagnosis of the patient, based on which genetic counseling and prenatal diagnosis may be provided.

Risk Factors of Apathy in Parkinson's Disease / 中国康复理论与实践

Objective:To study the prevalence and related factors of apathy in patients with Parkinson's disease (PD)． Methods:From November, 2017 to December, 2019, 254 PD patients in our hospital were included. According to Starkstein Apathy Scale (SAS), they were divided into apathy group and non-apathy group. Clinical data such as demographic data, motor symptoms, non-motor symptoms and motor complications were collected for comparison between two groups. Logistic regression analysis was performed to investigate the risk factors of apathy in PD. Results:Among 254 PD patients, 124 (48.8%) cases were in apathy. Compared with non-apathy group, apathy group was older in age and age of onset, higher in the scores of Movement Disorder Society United Parkinson's Disease Rating Scale part III (MDS-UPDRS Ⅲ), Hamilton Depression Rating Scale (HAMD), Hamilton Anxiety Rating Scale (HAMA) and Pittsburgh Sleep Quality Index (PSQI) (t > 2.291, P < 0.05), and lower in the scores of Montreal Cognitive Assessment (MoCA) and Mini-Mental State Examination (MMSE) (t > 22.424, P < 0.001). There was no statistically significant difference in gender, time of education, body mass index (BMI), disease course, Hoehn-Yahr (H-Y) stage, wearing-off phenomenon, dyskinesia, on-and-off phenomenon, and the scores of Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire (RBDQ) and Epworth Sleeping Scale (ESS) between two groups (P > 0.05). Logistic regression analysis showed that the age of disease onset, MoCA and HAMD scores were correlated with apathy in patients with PD (P < 0.05). Conclusion:The presence of apathy in PD may be associated with older age of disease onset, severity of depression and cognitive impairment.

Research progress on chemical constituents and pharmacological effects of Glycyrrhizae Radix et Rhizoma and discussion of Q-markers / 中国中药杂志

Glycyrrhizae Radix et Rhizoma, a traditional Chinese herbal medicine, mainly contains triterpenoids, flavonoids, polysaccharides, coumarins and volatile oils with many pharmacological activities such as anti-tumor, anti-bacterial, anti-viral, anti-inflammatory, immune regulatory and anti-fibrotic effects. The widespread applications of Glycyrrhizae Radix et Rhizoma in food, medicine and chemical industries make its demand increase gradually. Therefore, the quality guarantee of the medicinal is of great value. Starting from the elaboration of chemical components and pharmacological effects of Glycyrrhizae Radix et Rhizoma and the introduction to the concept of quality marker(Q-marker), this study analyzed the Q-markers of Glycyrrhizae Radix et Rhizoma from the aspects of plant phylogene-tics, chemical component specificity, traditional efficacy, traditional medicinal properties, absorbed components, different processing methods and so on, which provides reference for quality evaluation, development and utilization of Glycyrrhizae Radix et Rhizoma.

Effects of vestibular spontaneous nystagmus on visual smooth pursuit function / 中华耳鼻咽喉头颈外科杂志

Objective: The aim of the study is to analyze the effects of vestibular spontaneous nystagmus(SN) on the smooth pursuit function of visual ocularmotor system. Methods: A total of 46 patients with acute unilateral peripheral vestibular syndrome with SN (26 cases of vestibular neuritis, 6 cases of Ramsay Hunt Syndrome (RHS) with vertigo, 14 cases of sudden deafness with vertigo) were included in this work. In the study group, the results of SPT and SN test with videonystagmography(VNG) were also reviewed. Taking SPT parameters, the influence of SN intensity on SPT gain, asymmetry and waveform and their correlation were analyzed.SPSS19.0 software was used for statistical analysis. Results: Among the 46 patients, there were 36 cases of SN pointing to the healthy side(SN intensity range of 2.68°/s-32.53°/s), and 10 cases of SN pointing to the affected side (SN intensity range of 2.66°/s-16.54°/s). SN intensity was divided into 3 groups, including light(0.50°/s-5.00°/s), medium(5.01°/s-10.00°/s) and strong(>10.01°/s), accounting for 14 cases(30.4%), 18 cases(39.1%) and 14 cases(30.4%), respectively. The differences of the gain of SPT to the fast phase and slow phase direction in the overall groups and light, medium and strong groups of SN intensity respectively were statistically significant(ttotal=13.338, tlight=6.184, tmedium=8.436, tstrong=8.477, all of P<0.001). The difference of SPT gain in SN fast phase direction between groups with different SN intensity was statistically significant(F=9.639, P<0.001),there was no statistically significant difference in SPT gain between the groups on the SN slow phase direction(F=1.137, P=0.330).The SN intensity significantly negatively correlated with the SPT gain of the fast phase direction of SN (r=-0.433, P=0.003), that was, the SPT gain on the fast phase direction of SN decreased with the increase of SN intensity. There was no significant correlation between SN intensity and the gain of SPT on the slow phase direction of SN (r=-0.061, P=0.687). SPT waveform analysis showed that type I, type II and type III accounted for 8 cases(17.4%), 21 cases(45.6%) and 17 cases(37.0%), respectively. The corresponding mean values of SN intensity were (3.71±0.69)°/s, (7.44±1.88)°/s, (20.04±5.53)°/s, respectively, without type IV wave. The intensity of SN was positively correlated with the asymmetric value of the gain of SPT left and right(r=0.450,P=0.002). That was, with the increase of SN strength, the asymmetric value also increased, and the worse the asymmetry of the gain of SPT left and right pursuit was, the worse the SPT waveform was. Conclusion: SPT gain, asymmetry and SPT waveforms are all affected by SN, and the greater the intensity of SN, the greater the influence on the three. When SN is strong, type III waves may occur, suggesting that acute peripheral vestibular syndrome can also affect the visual ocularmotor systems.

Sitagliptin compared with glimepiride combined with metformin as an initial therapy in newly diagnosed diabetes patients with severe hyperglycaemia: A randomized controlled non-inferiority study / 西安交通大学学报(医学版)

【Objective】 To investigate the efficacy and safety of sitagliptin combined with metformin versus glimepiride combined with metformin in newly diagnosed type 2 diabetes patients with severe hyperglycaemia. 【Methods】 A randomized controlled and non-inferiority trial was carried out. A total of 129 newly diagnosed type 2 diabetes patients with severe hyperglycaemia [FPG≥200 mg/mL (11.1 mmol/L) and HbA1c≥9.0%] were enrolled and numerally randomly assigned to two groups. The patients received sitagliptin combined with metformin (n=66) or glimepiride combined with metformin (n=63) for 4 weeks and then metformin alone for another 8 weeks. Glycaemic control, weight changes and β-cell insulin secretory capacity were investigated to demonstrate the efficacy and safety of these two treatments. 【Results】 Mean HbA1c reduction was 4.03% in sitagliptin group and 4.13% in glimepiride group after 3 months of treatment. The lower boundary of the two-sided 95% confidence intervals of the mean HbA1c reduction difference between the two groups was -0.648%, which was more than -0.65%, suggesting that the predefined statistical criterion for non-inferiority was achieved. FPG decreased significantly after one month of intervention in both groups (P0.05). 【Conclusion】 Our study provided evidence that sitagliptin combined with metformin in newly diagnosed diabetes patients with severe hyperglycaemia showed better outcomes in glycaemic remission compared with glimepiride for those who refused insulin injection.

Research progress on chemical composition and pharmacological effects of Poria cocos and predictive analysis on quality markers / 中草药

Poria cocos is a traditional Chinese medicine with homology of medicine and food in China. It has the effects of promoting diuresis, eliminating dampness, invigorating spleen, calming heart and so on. It is widely used in medicine, food and health care products. With the in-depth study of P. cocos, its triterpenes, polysaccharides and other major chemical components, as well as its wide range of pharmacological effects and application development research have attracted much attention. This paper systematically reviewed the chemical components and pharmacological effects of P. cocos, according to the concept of quality markers, the quality markers of P. cocos were predicted and analyzed from the aspects of the biosynthetic approach and specificity of chemical components, traditional medicinal efficacy, traditional medicinal properties, measurable components, different processing methods and so on, which provides a scientific basis for quality evaluation and product development of P. cocos.

Clinical Analysis of Gene Mutation in Adult Patients with B-ALL and Its Influence on Clinical Prognosis / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene mutation in adult patients with B-ALL and its influence on clinical prognosis.@*METHODS@#Clinical data of 226 adult patients with B-ALL were retrospectively analyzed in the period from August 2011 to February 2018. The incidence of gene mutation in all patients were detected, and the influence of mutation gene on clinical prognosis were estimated. Cox regression model were used to evaluate the independent prognostic factors.@*RESULTS@#208 (92.04%) of 226 patients showed gene mutations, and the median mutation number was 2 (0-8). Among them, 54 cases (23.89%) showed 14 or more mutations. The top five mutation types of all patients were SF1, FAT1, MPL, PTPNII and N-RAS respectively. The median OS and median RFS times of 226 patients were 27.0 (5.5-84.0) months and 22.5 (0-81.0) months respectively. The OS and RFS times of Ph@*CONCLUSION@#Gene mutations are common in all adult B-ALL patients, and the clinical prognosis of patients with JAK and epigenetics-related signaling pathway mutations is worsen, while the WBC level closely relates to the clinical prognosis of the patients.

Advances in inorganic nanomaterials regulated autophagy in cancer treatment / 医学研究生学报

Autophagy represents one of the essential cellular mechanism to maintain homeostasis within cells, performing multiple biological functions during tumorigenesis. Base on the unique physicochemical properties of inorganic nanomaterials, supplemented by easy modification and targeting and so on, they could be used to regulate autophagy, controlling the occurrence and development of tumor and finally achieve treatment. This article primarily reviews the application of several representative inorganic nanomaterials, such as Gold nanoparticles, Silver nanoparticles, Iron oxide nanoparticles, Fullerene C60 nanomaterials, Graphene oxide nanomaterials in regulating autophagy of tumor cells and achieving treatment in recent years.

Effect on tumor growth inhibition activity of Gekkoswinhonis Guenther with different extent of broiling on H22 tumor-bearing mice / 药学学报

This study was designed to investigate the effect on tumor growth inhibition activity of lizards (Gekkoswinhonis Guenther) with different extent of broiling. Samples were prepared by a traditional drying method combined with broiling on clay tiles. Four groups of samples were all dried before broiling. Group A was without broiling; group B was mildly broiled; group C was moderately broiled; and group D was heavily broiled. Crispiness was detected by the sizes of the generated fragments of different groups and crispiness increased with broiling. Sensory evaluation of vision and olfaction was performed, and scores were generated by evaluators. Moderately broiled group had the highest total score in sensory evaluation. Water content and content of water-soluble extracts were detected according to Chinese Pharmacopoeia. With the increasing broiling extent, content of water-soluble extracts increased while water content decreased. Soluble protein concentration was detected by bicinchoninic acid (BCA) kit and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) with the same crude drug content. Soluble protein concentration decreased with the increasing broiling extent. With equal loading of proteins at the same concentration, soluble protein diversity was detected by SDS-PAGE. Band difference was marked by red boxes. Soluble protein molecule weights showed significant difference with the increasing broiling extent. H22 tumor-bearing mice model was established and used to detect tumor growth inhibition rate and immune organ index. Life quality of mice was evaluated. Mice treated with Gekkoswinhonis Guenther had better appetites and higher average weights compared with positive control group treated with fluorouracil (5-FU). Animal experiments were approved by the Ethics Committee of Beijing University of Chinese Medicine. Group A had the highest tumor growth inhibition rate (34.11%), followed by Group B (29.14%) and Group D (28.43%), Group C (21.98%) had the lowest tumor growth inhibition rate, but sensory evaluation was on the contrary. These results indicated that moderately broiling improved sensory evaluation but reduced the tumor growth inhibition activity of Gekkoswinhonis Guenther. The best tumor growth inhibition activity appeared when water content was 7.71%.

Analysis of gene mutation sites in patients with failed anti-HIV-1 treatment in Lincang City from 2011 to 2018 / 中华疾病控制杂志

Objective To understand the major genotype-resistant mutation sites and change trends of HIV/AIDS patients with failure of antiviral therapy (ART) in Lincang City, Yunnan Province. Methods The In-House method was used to amplify the Pol gene region in the plasma samples of HIV/AIDS patients with failure of ART in Lincang City from 2011 to 2018. The target sequence was spliced and submitted to the HIV resistance database to identify and analyze the HIV-1 subtypes and resistant mutation sites. Results The 950 strains of HIV/AIDS patients with antiviral failure were mainly CRF08_BC, accounting for 75.5% (717/950), and the total gene mutation rate was 67.1% (637/950), which was dominated by non-nucleoside reverse transcriptase inhibitors (NNRTIs), accounting for 62.4% (593/950); followed by nucleoside reverse transcriptase inhibitors (NRTIs), accounting for 34.7% (330/950); protease inhibitors (PIs) was 7.5% (71/950). A total of 15 NRTIs of resistance-related mutation sites were detected, mainly M184V (29.3%) which was detected mostly in AZT/D4T+3TC+NVP programs; including 17 kinds of NNRTIs, mainly was K103N/S (25.1%)，the most detected in AZT/TDF+3TC+EFV programs. There were 22 kinds of PIs，mainly secondary sites were L10F/V/I (2.2%) and L33F (2.1%). The top three NRTIs mutation sites in the area were changed from T69D/N/G，M184I/V and D67N/G/S to M184I/V, K70R/Q/E/T and T215Y/F/V/I/N/A/D. NNRTIs mutation sites were changed from V179D/T/E/F, E138A/K/G/R and Y181C/F/G/V to K103N/S, E138A/K/G/R and V179D/T/E/F. The mutation sites of the first three PIs did not change much. Conclusions The second-line regimen based on PIs is a better choice in free antiviral treatments. Mastering the drug resistance of different gene mutations is beneficial to the compatibility of first-line drugs, thus delaying the use of second-line drugs.

Analysis on molecular epidemiological characteristics of 38 HIV-1 positive seroconcordant couples in Yunnan Province / 中华疾病控制杂志

Objective To analyze the molecular epidemiological characteristics of 38 HIV-1 positive seroconcordant couples in Yunnan Province. Methods The samples of HIV-1 antibody screened initially and positive confirmed in the Laboratory of Yunnan Provincial Infectious Diseases Specialist Hospital from 2014 to 2016 and laboratory data were collected. 41 samples from HIV-1 positive seroconcordant couples were selected and sequenced by RT-nested-PCR amplification. After the sequences were aligned and spliced, the qualified pol gene region sequence was used to construct phylogenetic tree and analyze subtypes, and the gene distance differences between each positive couple were calculated. Results A total of 76 pol gene regions from 38 HIV-1 positive seroconcordant couples were obtained. The major gene subtypes included CRF08_BC (45,59.2%), CRF07_BC (18,23.7%) and CRF01_AE (7,9.2%), there were also C (4, 5.3%) and B (2, 2.6%). Phylogenetic tree analysis and gene distance calculation clearly showed that HIV transmission between relationship partners occurred in 9 HIV-1 positive seroconcordant couples. Conclusions As the proportion of sexual transmission of HIV has risen year by year, the transmission between husband and wife should be the focus of our attention. Late diagnosis of HIV infection is the main factor that causes the transmission between husband and wife. For special populations, monitoring and testing should be strengthened as soon as possible, so as to reduce the occurrence of transmission between AIDS couples.

A novel SLC25A13 variant and the resultant aberrant transcript identified in a pedigree affected with citrin deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic features of an infant with citrin deficiency (CD).@*METHODS@#Clinical data of the patient was collected and analyzed. Genomic DNA was extracted from peripheral blood samples collected from the patient and her parents. Targeted exome sequencing was performed to explore the genetic cause, and Sanger sequencing was used to confirm the detected variants. SLC25A13 mRNA was extracted from peripheral blood lymphocytes of the infant. The effect of novel mutation of SLC25A13 was analyzed by reverse transcription-PCR, cDNA cloning and Sanger sequencing.@*RESULTS@#The SLC25A13 genotype of the patient was determined as c.845_c.848+1delG/c.1841+3_1841+4delAA, with the latter having not been reported. The mutation has affected the splicing of the SLC25A13 mRNA, giving rise to an aberrant transcript [r.1841_1842ins1841+1_1841+67; 1841+3_c.1841+4del].@*CONCLUSION@#A novel SLC25A13 mutation c.1841+3_1841+4delAA and the resultant abnormal splicing variant were discovered by combined DNA sequencing and cDNA cloning. The finding has enabled definite diagnosis of CD and enriched the spectrum of SLC25A13 mutations.

Clinical and genetic analysis of eleven pediatric patients with Alagille syndrome / 中华儿科杂志

Objective@#To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS).@*Methods@#The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced. For the remaining 6 patients, high-throughput gene capture technology, chromosomal microarray analysis (CMA) and whole-genome copy-number variant(CNV) analysis were utilized, when necessary, to explore the genetic causes.@*Results@#All patients had cholestasis. However, the γ-glutamyl transpeptidase (GGT) levels in one patient were normal. Nine patients had posterior embryotoxon and facial malformations. Eight patients displayed heart defects. Seven patients presented with vertebral anomalies and among them, 1 patient had sacralization of the cubitus and radius. The condition of nine patients tended to be stabilized on follow-up, but 1 patient died of liver failure in late infancy and 1 got worse. Seven JAG1 variants were detected in 9 out of the 11 AS patients, with c.1977G>A (p.Trp659*) and c.1106_1107delCC (p.Pro369fs) being two novel variants. Two heterozygous interstitial deletions of 3.0 Mb and 9.24 Mb in size, respectively, in chromosome 20 were discovered in the remaining 2 patients. Both deletions involved the entire JAG1 gene. De novo origin was unveiled for the detected variants in 7 patients and interstitial deletions in two. Although the mother of 2 patients carried the relevant variant, she did not demonstrate any clinical features of AS.@*Conclusions@#With cholestasis, posterior embryotoxon, facial malformations, heart defects and vertebral anomalies being the major manifestations, AS demonstrated variable clinical expressivities and incomplete penetrance. This study identified a total of 7 JAG1 variants as well as 2 interstitial deletions involving this gene, and among them, the variants c.1977G>A (p.Trp659* ) and c.1106_1107delCC (p.Pro369fs) as well as the 9.24 Mb chromosomal interstitial deletion had not been reported previously.

Elevated Expression of CD69 in Serum Exosomes from Patients with Autoimmune Pancreatitis and Its Significance / 现代检验医学杂志

Objective To study the expression of CD69 in exosomes existed in serum from patients with autoimmune pancrea titis (AIP) and primarily discuss its affection on the pathology of disease progression.Methods Serum samples from 35 cases diagnosed as AIP and 35 healthy individuals examined at the same time were collected during October 2012 to December 2016 in Changhai Hospital,they were defined as experimental and control groups,separately.The cytokine levels in serum were measured by ELISA.The expression of surfaced molecules in exosomes existed in serum was tested by magnetic bead conjunct antibody method in flow cytometry.The comparison between the two groups' measurement data was measured by two independent samples' t test,correlation between two variables was showed by Pearson coefficient.Results The flow cy tometry analysis showed that the expression level of CD69 in serum exosomes in experiment and control groups were (85.76 ±19.45 vs 17.01±5.89)％,with statistical difference(t=20.01,P＜0.0001).CD69+ exosomes in experiment group were positively related with serum IL-4,IFN-γ and TGF-β (r 0.456,0.678,0.548,all P＜0.05),while CD69 exosomes were negatively related with serum IL-4,IFN-γ,IL-10 and TGF-β (r=0.589,-0.399,-0.784,-0.657,all P＜0.05).Conclusion The expression of CD69 in exosomes might participate in AIP progression through influencing the function of CD4 +T cell,and it was the potential examined biomarker and therapeutic target.

High Expression of CD36 in Peripheral Blood Mononuclear Cells from Patients with Crytococcal Meningitis and Its Clinical Significance / 现代检验医学杂志

Objective To explore the expression level of CD36 in peripheral blood mononuclear cells(PBMCs) from patients with crytococcal meningitis and its clinical significance.Methods The experimental group was the peripheral blood samples from 36 patients diagnosed as crytococcal meningitis in Changhai Hospital and Changzheng Hospital in Shanghai from September 2013 to February 2017,while the control group was the peripheral blood samples from 36 health individuals examined at the same time.PBMCs were separated by density gradient centrifugation method,the relative mRNA expression of CD36,TLR4 in PBMCs was tested by qRT-PCR,the expression level of cytokines such as TNF-α in plasma was tested by ELISA,the comparison of the examined values of experimental and control groups performed by two independent samples' t test,Pearson correlation analysis was performed on the relative mRNA expression of CD36 in PBMCs and cytokines such as TNF-α in experimental group.Results The relative mRNA expression of CD36 in PBMCs of experimental group was 2.01 ± 0.63,the control was 1.49 ± 0.47,and there was statistical difference (t =3.969,P =0.000 2).Pearson analysis results showed that in experimental group CD36 was positively related with the protein expression level of IFN-γ in plasma (r=0.384,P＜0.05) and negatively related with TGF-β(r=-0.487,P＜0.005).Conclusion CD36 might involve in the immunopathology process of crytococcal meningitic by influencing the expression of cytokines such as IFN-γ,TGF-β,and was the potential target for monitoring and treating this disease.

Characteristics of sperm donors and the eligibility rate of screening for sperm donation / 中华男科学杂志

<p><b>Objective</b>To investigate the relationship of the characteristics of sperm donors with the results of screening and provide some reference for the screening of sperm donors.</p><p><b>METHODS</b>We statistically analyzed the screening data about 12 362 sperm donors at the Guangdong Human Sperm Bank from January 2003 to June 2017 and the relationship of the eligibility rate of screening with the donors' age, education, occupation, marriage, and fatherhood.</p><p><b>RESULTS</b>Of the 12 362 sperm donors, 3 968 (32.1%) met the standards of semen quality and 3 127 (25.3%) filled all the requirements of sperm donation. The eligibility rate of screening was 27.7% in the donors aged 20－24 years, 24.3% in those aged 25－29 years, 23.8% in those aged 30－34 years, and 17.5% in those aged =≥35 years (P < 0.01); 23.5% in the senior high school students, 24% in the junior college students, 25.9% in the undergraduates, and 30.3% in the postgraduates (P < 0.01); 29.3% in the students versus 22.9% in the others (P < 0.01), 41.5% in the married versus 20.7% in the unmarried (P < 0.01), and 45.6% in the fathers versus 20.9% in the childless husbands (P < 0.01).</p><p><b>CONCLUSIONS</b>A higher eligibility rate of screening was found among the sperm donors aged <35 years or with a bachelor's or higher degree, particularly among students.</p>

Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency / 中国当代儿科杂志

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the clinical and genetic features of a patient with this disease. A 3.3-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 3 months. Physical examination revealed moderate jaundice of the skin and sclera. The liver was palpable 3.5 cm below the right subcostal margin with a medium texture. Serum biochemistry analysis revealed markedly elevated bilirubin (predominantly direct bilirubin) and total bile acids (TBA), as well as decreased 25-OH-VitD level. On pathological analysis of the biopsied liver tissue, hepatocyte ballooning and cholestatic multinucleate giant cells were noted. The lobular architecture was distorted. Infiltration of inflammatory cells, predominantly lymphocytes, was seen in the portal tracts. In response to the anti-inflammatory and liver protective drugs as well as fat-soluble vitamins over 2 months, the bilirubin and transaminases levels were improved markedly while the TBA kept elevated. Because of persisting hypercholanemia on the follow-up, SLC10A1 gene analysis was performed at his age of 17.2 months. The child proved to be a homozygote of the reportedly pathogenic variant c.800C>T (p. Ser267Phe), while the parents were both carriers. NTCP deficiency was thus diagnosed. The infant was followed up until 34.3 months old. He developed well in terms of the anthropometric indices and neurobehavioral milestones. The jaundice disappeared completely. The liver size, texture and function indices all recovered. However, the hypercholanemia persisted, and the long-term outcome needs to be observed.

Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of a family affected by genetic cholestasis.</p><p><b>METHODS</b>Clinical data of the patient was collected. Targeted exome sequencing was carried out to detect the pathogenic mutations. The results were confirmed by Sanger sequencing.</p><p><b>RESULTS</b>The patient, a 5-year-old boy, presented with severe cholestatic cirrhosis. Genetic analysis revealed that he has carried compound heterozygous mutations c.1006-2A>G and c.3580C>T (p.R1194X) of the ABCB4 gene, which were inherited from his father and mother, respectively. By structural prediction, the mutation c.3580C>T can give rise to a truncated multi-drug resistance protein 3 (MDR3).</p><p><b>CONCLUSION</b>The patient was diagnosed with progressive familial intrahepatic cholestasis type 3 (PFIC-3) based on clinical and molecular findings. Detection of novel mutations of the ABCB4 gene has provided valuable clues for the diagnosis and genetic counseling.</p>