Diagnosis, Differential ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Medicine, Chinese Traditional ; Phytotherapy ; Severe Acute Respiratory Syndrome ; drug therapy ; prevention & control

Background Human paired box gene 6 (PAX6)encodes a transcriptional regulator.It is essential for eye and brain morphogenesis.Mutation of PAX6 gene isresponsible for many congenital ocular malformations,such as aniridia.Aniridia is a autosomal dominant inheritance mode.Objective In this study,PAX6 gene mutation was analyzed in three Chinese families with aniridia through polymerase chain reaction (PCR) and sequencing.Methods The blood specimens were collected from 5 suffers and normal individuals of 3 aniridia families to extract DNA.The sequences of extron 4-13 were designed based on PAX6 gene.The primer was amplified by PCR and sequenced and compared with the known PAX6 gene sequence.This study complied with Declaration of Helsinki and approved by ethic committee of Sichuan University.Written informed consent was obtained from each individual before any medial examination.ResultsThere were 5 suffers in the 3 families.A heterozygous mutation (c.718 C＞T) in PAX6 gene was identified in 2 patients of family A.This mutation caused an amino acid substitution of arginine to termination codon at position 240 ( p.Arg240X) of PAX6 protein.No similar change in the normal families.No any the alteration of PAX6 gene was detected in family B whatever suffers and normal individuals.In family C,a deletion mutation of c.331 delG ( p.Val111 SerfsX13 ) in PAX6 gene was found.The deletion of one base caused frame shift mutation of PAX6 protein,and no such mutation was seen in other families.Conclusions Mutation of PAX6 gene appeares to be causative mutations of the disease in family A and C.

Five cadinane-type sesquiterpenoids were isolated from the n-hexane extract of Commiphora myrrha by using various chromatographic techniques, including silica gel, ODS and semi-preparative HPLC. Their structures were identified by physicochemical properties and spectroscopic data. These compounds were defined as (3S,4R)-3,9-dimethoxymyrrhone (1), 9-methoxymyrrhone (2), myrrhone (3), commiterpene B (4) and comosone Ⅱ (5). Compound 1 is a new compound, of which the absolute configuration was established by single crystal X-ray crystallographic analysis. Compound 5 is firstly isolated from the Commiphora genus.

Objective To evaluate the clinical safety and efficacy of percutaneous interventional therapy in pediatric patients with secundum atrial septal defect(ASD).Methods Clinical data of 40 patients(age≤2 years)with secundum atrial septal defect treated in our hospital from February 2014 to December 2017 were analyzed retrospectively. There were 13 males and 27 females in these patients.Ultrasound of heart showed that there were 37 patients with single ASD,3 patients with multiple ASDs.One associated with pulmonary stenosis(PS),and 1 associated with patent ductus arteriosus.There were 6 patients with pulmonary hypertension, and the diameter of ASD was (10.6 ± 2.0) mm. All patients were proved to have secundum atrial septal defect before intervention.In the intervention,the transport system was delivered along the femoral vein,inferior vena cava and right atrium through atrial septal defect to the left atrium,and the occluder was released there. Results Of the 40 patients, 38 cases were successfully implanted, and the other two patients were not satisfied with the location of occlusion.The diameter of the ASD occluder was(12.0±2.1)mm and the transport sheath 7-9 F.Plug2 occluder was implanted in the patient with patent ductus arteriosus.To the patient with PS,pulmonary valve balloon angioplasty was performed,and then the pressure gradient reduced obviously, after that ASD occlusion was performed. The total follow up period was from 2 months to 3 years.No residual shunt and unsatisfactory device position were found during the follow up period.The pulmonary pressure reduced to normal,and the right atrium and right ventricle were smaller in a different degree. All patients had no arrhythmia and other complications.Conclusion Transcatheter closure of ASD is safe,reliable,and has fewer complications.It is worthy of popularization and application.Appropriate occluder should be selected according to the size and edge of ASD to reduce complications,such as residual shunt and valve injury.

AIMTo investigate the water-soluble phenolic glycosides from the whole plant of Bulbophyllum odoratissimum.

METHODSColumn chromatography techniques were used to isolate the chemical constituents, physico-chemical constants and spectroscopic analysis were employed for structural elucidation.

RESULTSBulbophyllinoside (1), a new phenolic glycoside and three known compounds were isolated from the whole plant of Bulbophyllum odoratissimum Lindl. Their structures were determined as 3-hydroxyphenethyl alcohol 4-O-( 6'-O-beta-apiofuranosyl) -beta-D-glucopyranoside (1), 3-methoxyphenethyl alcohol 4-O-beta-D-glucopynanoside (2), 3, 5-dimethoxyphenethyl alcohol 4-O-alpha-D-glucopynanoside (3) and syringin (4).

CONCLUSIONBulbophyllinoside (1) is a new compound.

Glucosides ; chemistry ; isolation & purification ; Glycosides ; chemistry ; isolation & purification ; Molecular Structure ; Orchidaceae ; chemistry ; Phenols ; chemistry ; isolation & purification ; Phenylpropionates ; chemistry ; isolation & purification ; Solubility ; Water ; chemistry

OBJECTIVETo develop an HPLC method for determination of saponin I in bulb extracts of Allium macrostemon.

METHODThe extract was refluxed by methanol and then filtrated. The filtrate was concentrated and the bioactive saponin was measured by HPLC-RID.

RESULTThe calibration curve was in good linearity over the range of 5-100 microg with the regression equation of Y= 9.35 x 10(4) X - 2.78 x 10(4) (r = 0.9998) and the average recovery was 101.1% (n = 5, RSD 1.6%).

CONCLUSIONThe method is simple, quick and reproducible and can be applied in the quality control of A. macrostemon.

Allium ; chemistry ; Chromatography, High Pressure Liquid ; methods ; Plant Extracts ; chemistry ; isolation & purification ; Plant Roots ; chemistry ; Plants, Medicinal ; chemistry ; Quality Control ; Reproducibility of Results ; Saponins ; analysis ; Sterols ; analysis

BACKGROUNDInterleukin-23 (IL-23) is a pro-inflammatory cytokine that is thought to be central to the development of autoimmune diseases. This study was conducted to determine whether or not the serum concentration of IL-23 is elevated in patients with rheumatoid arthritis (RA), and to determine the relationship between the IL-23 level and disease activity in RA patients.

METHODSSerum samples were obtained from 59 patients with RA and 30 healthy controls. The clinical parameters of disease activity were determined, including the 28-joint disease activity score (DAS28), C-reactive protein (CRP), rheumatoid factor (RF) levels, and the degree of bony erosions based on X-rays. The levels of IL-23 and IL-17 were determined by enzyme-linked immunosorbent assay (ELISA). The correlations between the serum levels of IL-23 and disease activity parameters of patients with RA were determined.

RESULTSThe serum IL-23 level was significantly elevated in patients with RA compared to healthy controls. The serum IL-23 levels in the RA patients correlated with IL-17 and CRP levels, and the DAS28. The levels of IL-23 based on X-ray classification phase I, II, III, and IV were gradually elevated in RA patients.

CONCLUSIONSThe levels of serum IL-23 in RA patients were higher than in healthy controls. Thus, elevated serum IL-23 levels may be useful markers to detect active RA. In addition, IL-23 is involved in disease progression and bony erosions in patients with RA.

Adult ; Aged ; Arthritis, Rheumatoid ; blood ; pathology ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Interleukin-23 ; blood ; Male ; Middle Aged

AIMTo study the basis of actions of Gualou xiebai baijiutang.

METHODSGuided by bioactivities, chemical and chromatographic ways were applied to isolate and purify the prescription. The chemical structures were identified by chemical and spectral ways. The activities on cardiovascular system of the pure compounds were measured.

RESULTSSeven steroidal compounds were isolated and identified from the active parts.

CONCLUSIONCompounds 5 and 6 showed good anti-platelet aggregation activities induced by ADP and PAF. The IC50 of compound 5 and 6 induced by 2 mumol.L-1 ADP were 0.082 and 0.078 mmol.L-1, and the IC50 induced by 0.5 mumol.L-1 PAF were 0.182 and 0.151 mmol.L-1, respectively.

Allium ; chemistry ; Animals ; Drug Combinations ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; pharmacology ; Ethanol ; Fruit ; chemistry ; Molecular Structure ; Plants, Medicinal ; chemistry ; Platelet Aggregation ; drug effects ; Rabbits ; Saponins ; chemistry ; isolation & purification ; pharmacology ; Trichosanthes ; chemistry

OBJECTIVETo investigate the expression of proline-rich tyrosine kinase-2 (Pyk2) in human primary colorectal carcinoma (CRC) and it's prognostic significance.

METHODSThe expression of Pyk2 was retrospectively examined with immunohistochemistry (IHC) in 108 tissues of primary CRC. The correlation of Pyk2 expression to prognosis and relevant clinical factors were analyzed.

RESULTSThe rate of Pyk2 low-expression in CRC was 56.5% (61/108). The expression of Pyk2 correlated significantly to the histological grade (P < 0.05) and the TNM stage (P < 0.05), while no correlation between Pyk2 expression and age, tumor size (P > 0.05). Patients with Pyk2 over-expression had significantly higher 5-year survival rate (66.0%) than those with Pyk2 low-expression (31.4%). Pyk2 expression, together with carcinoma histologic grade and TNM stage were prognostic factors to CRC on the multivariate analysis.

CONCLUSIONSPyk2 expression can be a prognostic factor to the CRC patients together with other predictors.

Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; enzymology ; pathology ; Female ; Focal Adhesion Kinase 2 ; metabolism ; Humans ; Male ; Middle Aged ; Prognosis

OBJECTIVETo find out how GATA-1 and GATA-2 behave in the bone marrow of patients with Monge's disease.

METHODSThe levels of mRNA in mononuclear cells (MNC) and proteins of GATA-1 and GATA-2 in the bone marrow of patients with Monge's disease and controls were determined by RT-PCR and immune cytolysis chemical method.

RESULTS(1) All patients and controls expressed GATA-1 mRNA (Monge's disease 1.033 +/- 0.146, Control 0.458 +/- 0.076) and GATA-2 mRNA (Monge's disease 0.451 +/- 0.073, Control 0.185 +/- 0.074). All patients expressed both GATA-1 (positive cell counts 77.3 +/- 33.3, positive score 135.4 +/- 75.4) and GATA-2 ( positive cell counts 29.4 +/- 11.4, positive score 48.4 +/- 19.7). All the controls expressed GATA-1 (positive cell counts 18.1 +/- 11.3, positive score 24.2 +/- 13.4) while 12 of 20 controls expressed GATA-2 ( positive cell counts 5.4 +/- 3.0, positive score 7.3 +/- 4.2). The expression of mRNA and proteins of GATA-1 and GATA-2 in Monge's disease were higher than in controls (P < 0.01). (2) There was a positive correlation between GATA-1 and Hb (P < 0.01), as did between mRNA and proteins of GATA-1 and GATA-2. (3) Both the proteins of GATA-1 and GATA-2 located only in the cytoplasm but not the nucleus.

CONCLUSIONSTwo of inherent genes, GATA-1 and GATA-2 which were expressed at higher levels in patients with Monge's disease than in controls might play significant roles in the pathogenesis of Monge's disease.

Adult ; Altitude Sickness ; metabolism ; GATA1 Transcription Factor ; metabolism ; GATA2 Transcription Factor ; metabolism ; Humans ; Male ; Polycythemia ; metabolism ; RNA, Messenger ; metabolism