Objective To study the clinical features and gene mutation of congenital hyperinsulinism (CHI). Methods Clinical data of one newborn infant with CHI were retrospectively analyzed, and relevant literatures were reviewed. Results The infant was admitted at 24 days after birth due to recurrent hypoglycemia. Genetic examination revealed the single heterozygous mutation on ABCC8, which conifrmed the diagnosis of CHI. Experimental treatment of Diazoxide was effective. The blood glucose was normal in the follow up. Conclusions The improvement of genetic testing at the soonest can not only helps early diagnosis of CHI, but also guides the long-term clinical management of CHI.

Glioma ; pathology ; Humans ; Neoplastic Stem Cells ; pathology

Objective To explore the clinical characteristics of neonatal-onset carbamoyl phosphate synthetase I deficiency (CPS1D). Methods Clinical data and result of genetic detection of one neonate with CPS1D were retrospectively analyzed. The pertinent literature was reviewed. Results A 3-day old girl, with onset symptoms of nonspecific performance, such as poor feeding, less activity, tachypnea, and seizures. After fasting, anti-infection, and respiratory support etc. the condition was improved. However, the condition deteriorated and developed rapidly after feeding restarted. MRI showed extensive cerebral white matter lesions. Blood ammonia?>?500 μmol/L. Gene detection found two heterozygous mutations in pathogenic gene CPS1 in twentieth exon of c.2407C?>?G (p.803, R, G) and fourth exon C.323G?>?A (p.108, G, E), according to which CPS1D was diagnosed finally. Conclusions For neonate with normal birth, had feeding difficulty, seizures, and consciousness disorder after establishment of normal feeding, if blood ammonia level significantly increased, the blood and urine amino acids analysis and gene detection should be performed to confirm the diagnosis.

Sperm ultrastructural abnormalities are often associated with sperm motility, the integrity of genetic material, and the fertilization potential. The investigation of sperm ultrastructural abnormalities is based on the evolution of microscopy techniques. In his paper, we review the improvement of the microscopy techniques and the ultrastructure of several specific morphological defects and he apoptotic spermatogenic cells in order to expound the significance of sperm ultrastructural observation in clinical practice. We deem it necessary to analyze the sperm ultrastructure before exploring the pathology and adopting assisted reproductive technology for some special patients with teratozoospermia.
Humans ; Male ; Microscopy ; Spermatozoa ; abnormalities ; ultrastructure

Objective To explore the predictive value of heart-type fatty acid-binding protein (HFABP) in predicting the cardiovascular events after none-cardiac thoracic surgery in aged patients.Methods Sixty eight aged patients were admitted from February 2012 to August 2014 and accepted none-cardiac thoracic surgery.The patients'general information and the incidence of postoperational cardiovascular events were recorded.Serum H-FABP was measured.The receiver operating characteristic (ROC) curve was constructed and the predictive effect of serum H-FABP for prognosis was analyzed.Results Eighteen patients were suffered from postoperative cardiovascular events (PCE).The level of H-FABP after surgery in patients with PCE was higher than that with none-PCE (P ＜ 0.05).The serum concentration of H-FABP after surgery and NT-proBNP before surgery was the independent risk factors for the elderly patients undergoing non-cardiac thoracic surgery.The area under ROC of H-FABP was 0.840 (95％ CI:0.716 ～0.964,P ＜0.01).The sensitivity and specificity of predicting postoperational cardiovascular event with serum concentration of H-FABP ＞5.26μg/L was 77.8％ and 84.0％ (OR 15.944,95％ CI:4.239 ～59.978,P ＜0.01).Conclusions The level of H-FABP after surgery is an independent risk factor for the occurrence of PCE for the elderly patients undergoing non-cardiac thoracic surgery.It can predict the risk of PCE after non-cardiac thoracic surgery in aged patients.

Objective:To evaluate the clinical effects of Pumpkin Polysaccharide Granules for diabetes Ⅱ.Methods:The clinical effects were evaluated on the governing principle of clinical investigation of diabetes treatment with new Chinese medicinal. In experiment the clinical effects of Pumpkin Polysaccharide Granules (as a treatment group) were compared with that of Xiaoke pill (as a control group).Results:The total effective rate of treatment group was 87.13%, 10 cases of then marked effect, 16 cases effect, 4 cases no improvement. The total effective rate of control group was 70.00%. The treatment group was superior to the control group ( P

Objective: To study the best condition of extracting effective component in Daphne odora Thurrb fresh flower by CO 2 supercritical fluid extraction(SFE). Methods: Uniform design was taken in these 4 factors: extracting pressure, extracting temperature, releasing pressure and releasing temperature, together with the experiments of 7 levels in each factor. Results: The best conditon in SFE: extracting pressure 35MPa, extracting temperature 40 ?C , releasing pressure over 8MPa and releasing temperature 36 ?C . Conclusion: This method is simple, highly selective and efficient in extracting effective component of Daphne odora thurrb fresh flowers.

This study examined the dynamic characteristics of upper airway collapse at soft palate level in patients with obstructive sleep apnea/hypopnea syndrome (OSAHS) by using dynamic 3-Dimensional (3-D) CT imaging. A total of 41 male patients who presented with 2 of the following symptoms, i.e., daytime sleepiness and fatigue, frequent snoring, and apnea with witness, were diagnosed as having OSAHS. They underwent full-night polysomnography and then dynamic 3-D CT imaging of the upper airway during quiet breathing and in Muller's maneuver. The soft palate length (SPL), the minimal cross-sectional area of the retropalatal region (mXSA-RP), and the vertical distance from the hard palate to the upper posterior part of the hyoid (hhL) were compared between the two breathing states. These parameters, together with hard palate length (HPL), were also compared between mild/moderate and severe OSAHS groups. Association of these parameters with the severity of OSAHS [as reflected by apnea hypopnea index (AHI) and the lowest saturation of blood oxygen (LSaO(2))] was examined. The results showed that 31 patients had severe OSAHS, and 10 mild/moderate OSAHS. All the patients had airway obstruction at soft palate level. mXSA-RP was significantly decreased and SPL remarkably increased during Muller's maneuver as compared with the quiet breathing state. There were no significant differences in these airway parameters (except the position of the hyoid bone) between severe and mild/moderate OSAHS groups. And no significant correlation between these airway parameters and the severity of OSAHS was found. The position of hyoid was lower in the severe OSAHS group than in the mild/moderate OSAHS group. The patients in group with body mass index (BMI)≥26 had higher collapse ratio of mXSA-RP, greater neck circumference and smaller mXSA-RP in the Muller's maneuver than those in group with BMI<26 (P<0.05 for all). It was concluded that dynamic 3-D CT imaging could dynamically show the upper airway changes at soft palate level in OSAHS patients. All the OSAHS patients had airway obstruction of various degrees at soft palate level. But no correlation was observed between the airway change at soft palate level and the severity of OSAHS. The patients in group with BMI≥26 were more likely to develop airway obstruction at soft palate level than those with BMI<26.

Objective To construct the eukaryotic expression vector harboring the fragment of Alia gene, and to investigate the effects of it on the signal of quorum sensing and virulence factors producted by Pseudomonas aeruginosa(Pa). Methods The plasmid pET-AiiA was cutted by Nhe Ⅰ and Xho Ⅰ , then the AiiA fragment was cloned into eukaryotic expression vector pEGFP-N2. After the plasmid was transfected into A549 cells, the protein was extracted and AiiA protein was found in it by Western blot. After the extrac- tion was admixed into the LB broth, from culture supernatant extracts of Pa, the N-acylhomoserine lactone (AHL) was detected by bioassay, and the expression of pyocyanin and elastase were assayed by RT-PCR and optical density. Results The fragment of AiiA gene was cutted and then cloned into pEGFP-N2. AiiA protein was found in the transfected cells. After admixed with the extract harboring AiiA protein, in Pa medium, the AHL was hydrolyzed, and the expression of pyocyanin and elastase were reduced. Conclusion The virulence factors synthesized by Pa were reduced by the AiiA protein expressed in eukaryotic cell.

OBJECTIVETo study the constituents with the pain-relieving activity from the stem rind of Daphne giraldii.

METHODThe partition of the ethanol extract and chromatographic separation of the fractions were carried out by the monitoring of anelgesic pharmacological activity. The structures of the isolated compounds were determined by MS and NMR.

RESULTFour compounds were isolated from the pain-relieving fraction. Three of them were identified as diterpenes, gniditrin (1), gnidicin (2) and daphnetoxin (3). Compound 4 was determined as Z-octadecyl caffeate.

CONCLUSIONCompounds 1, 2 and 4 were isolated from the plant for the first time.

Analgesics ; chemistry ; isolation & purification ; pharmacology ; Caffeic Acids ; chemistry ; isolation & purification ; pharmacology ; Daphne ; chemistry ; Diterpenes ; chemistry ; isolation & purification ; pharmacology ; Heterocyclic Compounds, 4 or More Rings ; chemistry ; isolation & purification ; pharmacology ; Molecular Structure ; Plant Stems ; chemistry ; Plants, Medicinal ; chemistry