Objective:To explore the genetic basis of a child with mental retardation and developmental delay.Methods:A child who had attended the genetic clinic of Linyi People′s Hospital from October 2023 to April 2024 was selected as the study subject. Intelligence and development were assessed with simplified Peabody scale. Electroencephalogram and imaging data were collected. Peripheral blood samples of the child and her parents were collected for the screening of genetic metabolic diseases, chromosomal karyotyping, and trio-whole genome sequencing (trio-WGS) analysis. Candidate variant was verified by Sanger sequencing, and RNAseq was carried out to verify the alternative splicing due to the candidate variant. This study has been approved by the Medical Ethics Committee of Linyi People′s Hospital (No. YX200083).Results:The patient was an 8-year-and-11-month-old girl. Both of her parents had normal phenotypes. The child was assessed by the simplified Peabody scale as having intellectual disability and developmental delay. MRI showed no definite abnormal signals within the brain parenchyma, and electroencephalogram was normal. Screening of genetic metabolic diseases showed no obvious abnormality. Chromosomal karyotype was normal. Trio-WGS has detected a c. 697+ 1G>A variant in the intron 4 of the NFIX gene, along with 9 other variants within eight genes. The c. 697+ 1G>A variant may cause abnormal splicing of the NFIX gene transcript. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 697+ 1G>A variant was predicted to be pathogenic (PVS1+ PS2+ PM2_Supporting), while the evidence for pathogenicity of the other 9 variants was insufficient. Conclusion:The novel de novo c. 697+ 1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

COVID-19 is caused by a novel coronavirus-severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), which has being spreading around the world, posing a serious threat to human health and lives. Neutralizing antibodies and small molecule inhibitors for virus replication cycle are the main antiviral treatment for novel coronavirus recommended in China. To further promote the rational use of antiviral therapy in clinical practice, the National Center for Infectious Diseases (Beijing Ditan Hospital Capital Medical University and the First Affiliated Hospital, Zhejiang University School of Medicine) invited experts in fields of infectious diseases, respiratory and intensive care to develop an Expert Consensus on Antiviral Therapy of COVID-19 based on the Diagnosis and Treatment Guideline for COVID-19 ( trial version 10) and experiences in the diagnosis and treatment of COVID-19 in China. The consensus is concise, practical and highly operable, hopefully it would improve the understanding of antiviral therapy for clinicians and provide suggestions for standardized medication in treatment of COVID-19.

Objective To establish a new method for rapid detection of β-thalassemia by investigating six clinical common mutation types.Methods Fifty cases of clinical wild-type samples and 42 cases ofβ-thalassemia samples were collected, and β-globin gene was amplified by PCR.Uniform ligation probe ( ULP) specific probes were designed for hybridization reaction to increase the reaction specificity and real-time PCR was performed to increase the sensitivity.After that, PCR products were verified by agarose electrophoresis.After examining the specificity and sensitivity, Kappa test between LDR-ULP method and reverse dot blot( RDB) method was conducted.Results Hybridization efficiency was improved 2.53 times by LDR-ULP hybridization.Each mutant type showed a significant amplification curve, whereas the wild-type had no significant curve within 40 cycles.The limit of determination of this method was 5 pg.The results of 92 cases of peripheral blood samples detected by the method of LDR-ULP and RDB were completely consistent.Conclusion In this study, a simple, inexpensive, rapid new method to detect β-thalassemia were established.

Objective To construct microRNA (miRNA) expression vector targeting surviving,and to investigate its effect on transfected human colorectal carcinoma (HT-29) cell apoptosis and proliferation.Methods miRNA targeting survivin was synthesized and transfected HT-29 cells by lipofectin.HT-29 cells were cultured in the 6 orifices.The cultured cells were divided into control,liposome,negative control and positive control groups.Transient transfected cells were collected and the proliferation index and apoptosis rate of HT-29 cells were detected by flow cytometry.The expressions of survivin mRNA and protein were detected by RT-PCR and Western blot.Results The proliferation index and apoptosis rate of the positive control group were significantly higher compared with normal group,transfection group and mock-vehicle group (17.98％ ± 2.35％ vs 38.04％ ±2.11％ vs 36.73％ ±2.51％ vs 36.57％ ±3.05％; t =20.05,P＜0.01; t =18.75,P＜0.01; t=18.59,P＜0.01; 19.54％ ±1.74％ vs 3.13％ ±0.29％ vs 3.70％ ±0.44％ vs 3.61％ ± 0.50％ ; t =16.40,P ＜ 0.01 ; t =15.84,P ＜ 0.01 ; t =15.92,P ＜ 0.01).Survivin mRNA and protein expression levels were specifically suppressed in transfected HT-29 cells (t =0.68,P ＜0.01 ; t =0.58,P ＜ 0.01; t=0.61,P＜0.01;t=0.64,P＜0.01; t=0.62,P＜0.01;t=0.67,P＜0.01).Conclusion Survivin targeted silence can effectively decrease the expression of survivin mRNA and protein,induce colorectal carcinoma HT-29 cell apoptosis and inhibit cell proliferation.

Objective To assess the diagnostic value of capsule endoscopy (CE) and CT virtual endoscopy (CTVE) for small intestinal diseases.Methods The data of 31 patients with suspected small bowel diseases who were examined by both CTVE and CE were collected.The diagnostic rates of CE and CTVE was compared by paired data McNemar test,using the diagnosis confirmed by surgery or follow-up as the golden standard.Results The confirmed diagnosis of 31 patients were small intestinal tumor in 16,nontumorous lesion in 10 and no abnormal lesion in 5.CE identified positive findings in 24 patients,including 14 cases of tumorous lesion (with mis-location in 2 and failure in definite diagnosis in 7) and 10 cases of non-tumorous lesion.CTVE identified positive findings in 17 patients,including 14 cases of tumorous lesion (with mis-location in 1 and failure in definite diagnosis in 4) and 3 cases of non-tumorous lesion.The combination of CE and CTVE could identified positive findings in 26 patients,including 16 tumorous and 10 nontumorous lesions.The diagnostic rates of CE and CTVE for tumorous lesions were both 87.5％ (14/16).The overall diagnostic rate of combined CE and CTVE was 83.9％ (26/31),which was significantly higher than that of CTVE alone (54.8％,17/31) but similar to that of CE alone (77.4％,24/31).Conclusion Both CE and CTVE are effective in diagnosis of small intestinal lesions and the combined use of 2 methods can increase diagnosis yield.

Thirteen compoumds were isolated from the n-BuOH portion of the 70% ethanolic extract of Comastoma pedunculatum by a combination of various chromatographic techniques including silica gel, macroporous adsorbent resin, Sephadex LH-20, and preparative HPLC, of which nine were triterpenoid saponins and four were flavone C-glycosides. Their structures were elucidated by spectroscopic data as saikogenin F (1), 3-O-beta-D-fucopyranosylsaikogenin F (2), clinoposaponin XV (3), saikosaponin A (4), 6"-acetylsaikosaponin A (5), clinoposaponin I (6), bupleuroside I (7) , clinoposaponin XII (8) , saikoponin b3 (9), isovitexin (10) , swertisin (11) , isoorientin (12), 3',4',5-trihydroxy-7-methoxy-6-C-beta-D-glucopyranosyl-flavone (13). Compounds 1-10, 12-13 were all isolated from Comastoma genus for the first time.
Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; analysis ; Flavones ; analysis ; isolation & purification ; Gentianaceae ; chemistry ; Saponins ; analysis ; isolation & purification ; Spectrometry, Mass, Electrospray Ionization

OBJECTIVETo study the chemical constituents from the ethyl acetate extract of Myricaria bracteata.

METHODThe chemical constituents were isolated and purified by chromatographic techniques, and their structures were identified by physical characters and spectroscopic analysis.

RESULTSixteen compounds were isolated from the ethyl acetate portion of the 95% ethanolic extract of Myricaria bracteata, and identified as myricarin (1), myricarin B (2), 3alpha-hydroxytaraxer-14-en-28-oic acid (3), myricadiol (4), trans-ferulic acid 22-hydroxydocosanoic acid ester (5), docosyl-3, 4-dihydroxy-trans-cinnamate (6), dillenetin (7), 3, 5, 4'-trihydroxy-7-methoxyflavone (8), 3, 5, 4'-trihydroxy-7, 3'-dimethoxyflavone (9), methyl 3, 5-dihydroxy-4-methoxybenzoate (10), 3-hydroxy-4-methoxy cinnamic acid (11), sinapaldehyde (12), vanillin (13), syringaldehyde (14), 3, 3', 4'-trimethoxyellagic acid (15), methyl p-hyroxybenzoate (16).

CONCLUSIONCompounds 5, 6, 12-16 were isolated from the genus Myricaria for the fist time, all of the compounds were isolated from this plant for the fist time, except for 8 and 9.

Acetates ; chemistry ; Acrolein ; analogs & derivatives ; chemistry ; isolation & purification ; Benzaldehydes ; chemistry ; isolation & purification ; Cinnamates ; chemistry ; isolation & purification ; Flavones ; chemistry ; isolation & purification ; Glycosides ; chemistry ; isolation & purification ; Plant Extracts ; chemistry ; isolation & purification ; Tamaricaceae ; chemistry ; Triterpenes ; chemistry ; isolation & purification

The xanthones in the ethyl acetate extract of Comastoma pedunlulatum were investigated. The chromatographic and spectroscopic techniques were used to isolate and identify the constituents. Nine xanthones were isolated from the active parts of the ethyl acetate portion of the 70% ethanolic extract of C. Pedunlulatum, which possess the protective activity against hepatocyte damage caused by DL-GalN, and identified as 1,8-dihydroxy-2,6-dimethoxyxanthone (1), 8-hydroxy-1,2,6-trimethoxyxanthone (2), 1,6,8-trihydroxy-2-methoxyxanthone (3), 1,8-dihydroxy-3,5-dimethoxyxanthone (4), 1-hydroxy-3,5,8-trimethoxyxanthone (5), 1 -hydroxy-3,7-dimethoxyxanthone (6), 1,2,6,8-tetrahydroxyxanthone (7), 1,3,7-trihydroxy4- methoxyxanthone (8), 6,8-dihydroxy-1, 2-dimethoxyxanthone (9). Among them, compounds 6-9 were isolated from the genus Comastoma for the fist time.
Gentianaceae ; chemistry ; Plant Extracts ; analysis ; isolation & purification ; Xanthones ; analysis ; isolation & purification

BACKGROUNDLivin is a novel inhibitor of apoptosis protein(IAP),recent studies showed that it overexpressed in many carcinomas including lung cancer and contributed much to the cancerous development.The objective of this study is to explore the expression of the two isoforms of livin in lung cancer tissues and their relationship with histological types and chemotherapy,and to explore their relationship to the expression of caspase-3 as well.

METHODSExpression of livin α,livin β and caspase-3 mRNAs were detected by reverse transcription polymerase chain reaction(RT-PCR) assay in lung cancer tissues as well as in controls.

RESULTSLivin α and livin β were expressed in 12 of 27 and 19 of 27 lung cancer tissues respectively,much higher than those in lung para-cancerous(0/6,0/6) or benign disease lung tissues(0/12,1/12)(both P < 0.01).Moreover,the positive rate was 7/14 and 9/14 in lung adenocarcinoma and 4/12 and 9/12 in squamous and large cell carcinoma respectively,and both of them were detected in one small cell carcinoma.The levels of these two isoforms in lung cancer were significantly higher than those in controls by Gel Imaging System(both P < 0.05),the level of livin α was remarkably higher in adenocarcinoma than that in squamous cell carcinoma(P < 0.05),while the level of livin β was similar in both carcinomas(P > 0.05).Meanwhile,the level of caspase-3 in lung cancer was significantly lower than that in controls,the levels of either each of two isoforms or their sum were negatively associated with that of caspase-3(P < 0.05,P < 0.01,P < 0.01).Two isoforms of livin mRNA expression seemed to increase after chemotherapy but not related to clinical stages(P > 0.05).

CONCLUSIONSTwo isoforms of livin are differently expressed in different histological types of lung cancer and may contribute to corresponding cancerous development;the levels of livin are negatively associated with those of caspase-3,this may due to the fact that livin could resist against apoptosis;high expression of livin seems to be related to chemotherapy but not clinical stage.

OBJECTIVE To investigate the clinical pathologic features and therapeutic tools of pulmonary cryptococcosis.METHODS The clinical data about 16 cases of pulmonary cryptococcosis which were diagnosed by histopathologic examinations were reviewed.The survey data recorded over a 15-year period,from 1982 to 2007,were summarized.We analyzed their clinical situations,radiographic manifestations,final diagnosis and therapeutic tools.RESULTS The majority of the patients were middle-aged males.The health condition of the most of the patients was good before infection.six months to five years after surgery and antifungal theragy,no relapse,dissemination and death were observed.CONCLUSIONS The majority of primary pulmonary cryptococcosis patients have not underlying diseases,and their radiography manifestations show single or multiple nodular shadows,tumor shadows and infiltrative shadows.The limited pathological change can be excised and applied with the antifungal drugs.Fluconazole is the first-choice drug for curing pulmonary cryptococcosis.