Adult ; Arterial Occlusive Diseases ; etiology ; Arteritis ; complications ; Coronary Artery Disease ; etiology ; Female ; Humans

OBJECTIVETo identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome.

METHODSUrine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents.

RESULTSThe result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal.

CONCLUSIONThe patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; Female ; Glycoproteins ; genetics ; urine ; Humans ; Male ; Mucopolysaccharidosis II ; enzymology ; genetics ; urine ; Mutation ; genetics

OBJECTIVETo identify methods in reducing the prevalence of lactose intolerance in children.

METHODSA hydrogen respiration test (HRT) method was used in screening lactose intolerance (LI) subjects after taking 25 g of lactose among 106 children aged from 10 to 11 years old in a primary school located in the suburban area of Beijing. A cross-design was used to detect the effects of low lactose milk, yogurt and cereal-effect among 68 selected LI children.

RESULTSThe incidence of LI was 80.2% after the children took 25 g of lactose, and after taking a 250 ml of full milk, lactase-fermented milk, coinfected milk, yogurt, or milk with meal, the LI incidences were 21.1% (12/57), 0% (0/25), 6.1% (2/33), 8.6% (3/35) and 13.6% (3/22) respectively.

CONCLUSIONLow lactose milks and yogurt could reduce the LI incidence among LI children significantly.

Animals ; Child ; China ; epidemiology ; Edible Grain ; Humans ; Incidence ; Lactose ; administration & dosage ; Lactose Intolerance ; diet therapy ; epidemiology ; Milk ; Prevalence ; Students ; statistics & numerical data ; Treatment Outcome ; Yogurt

OBJECTIVETo control the quality of Qizhiweitong granules with the all-time multi-wavelength fusion fingerprint quantification as the major technique.

METHODAgilent TC-C18 (4.6 mm x 250 mm, 5 microm) chromatographic column was adopted, with 0.02% formic acid water-acetonitrile as the mobile phase for linear gradient elution. The flow rate was 1 mL x min(-1), column temperature was 30 degrees C, and detector wavelength was 230, 254, 283 nm. Matlab was adopted for all-time multiple-wavelength fusion for data in dif format.

RESULTA good relationship was shown for albiflorin in 56.5-452 mg x L(-1) (r = 0.999 8), paeoniflorin in 107-856 mg x L(-1) (r = 0.999 8), licorice glycoside in 73.4-687 mg x L(-1) (r = 0.999 8), naringin in 109-872 mg x L(-1) (r = 0.999 8), neohesperidin in 48.0-384 mg L(-1) (r = 0.999 8), and glycyrrhizic acid in 38.6-308 mg x L(-1) (r = 0.999 8), with recoveries of 0.999 8.

CONCLUSIONThe method is simple, accurate and highly reproducible, and can provide basis for quality control of Qizhiweitong granules.

Benzoates ; analysis ; Bridged-Ring Compounds ; analysis ; Chromatography, High Pressure Liquid ; methods ; Drugs, Chinese Herbal ; analysis ; Glucosides ; analysis ; Glycosides ; analysis ; Monoterpenes ; Quality Control

OBJECTIVETo screen the optimum formulation and prepare O/W sinomenine microemulsion and investigate its in vitro transdermal delivery ability.

METHODThe microemulsions were prepared with the formulation containing oleic acid-tween 80-dehydrated alcohol-water by the pseudo-ternary phase diagram. The permeation flux of sinomenine was determined in vitro by Franz diffusion cell fitted with rat skin. The sinomenine was determined by HPLC. The transdermal characteristics of sinomenine microemulsion were compared with that of sinomenine gels.

RESULTThe steady state flux of sinomenine microemulsion was significantly higher than that of sinomenine gels. The average permeation rate of sinomenine microemulsion was 116. 44 microg x cm(-2) x h(-1) in vitro.

CONCLUSIONThese results indicated that the studied microemulsion system with high permeation rate may be a potential vehicle for the transdermal delivery of sinomenine.

Administration, Cutaneous ; Animals ; Drug Compounding ; methods ; Drug Delivery Systems ; Emulsions ; Ethanol ; chemistry ; Male ; Morphinans ; administration & dosage ; isolation & purification ; pharmacokinetics ; Oleic Acid ; chemistry ; Particle Size ; Plants, Medicinal ; chemistry ; Polysorbates ; chemistry ; Rats ; Sinomenium ; chemistry ; Skin ; metabolism ; Skin Absorption ; Surface-Active Agents ; chemistry

Objective To investigate the frequencies and distribution of CD4+ T ceils and CD8+ T cells as well as the changes of immune activation in gastric mucesa of HIV-infected individuals. Methods 42 HIV-infected individuals were recruited into this investigation, and 36 patients had definite diagnosis of clinical stage.Biopsy of gastric mucosal tissues was performed by fiberoptic gastrescope including 10 normal people as a control group. Then, immunohistochemistry was used to detect expression of CD4, CD8 and CD38 in gastric mucosa, and the distinctions among three groups were analyzed with LEICA Qwin image analysis system. Results (1) Compared with asymptomatic HIV carriers and control group, CD4+ T cells remarkably decreased in the gastric mucosa of AIDS patients (P < 0.01). In gastric mucosa of asymptomatic HIV carriers, there were still some CD4+ T cells in lymphoid follicles and stroma where CD4+ T cells were unevenly distributed, the frequency of CD4+ T cells was not significandy different between asymptomatic HIV carriers and control group (P > 0.05) ; (2) Phenomenon of CD8+ T cells infiltrating mucosal epithelium and gland was general in HIV-infected individuals. CD8+ T cells took on local excessive hyperplasia in gastric mucosa of some individuals. As compared with control group, CD8+ T cells markedly increased in gastric mucosa of infected individuals (P < 0.01), but the distinction of asymptomatic HIV carriers and AIDS patients was not significant (P > 0.05); (3) CD38-expressing cells mainly distributed over gastric mucosai surface to superficial layer(1/3-2/3 layer) of HIV-infected individuals, and was more intensive than control group (P≤ 0.01), but there was not noticeable difference between asymptomatic HIV carriers and AIDS patients (P > 0.05). Conclusion The frequencies and distribution of gastric mucosal CD4+ T cells of HIV-infected individuals were closely correlated with progression of disease. Disfunction of mucosal immune system which was resulted from HIV infection and injury of CD4+ T cells could be an important cause of CD8+ T cells increasing and CD38-expressing enhancement.

OBJECTIVETo investigate the safety and efficacy of low-concentration inhaled nitric oxide (NO) in the treatment of hypoxic respiratory failure (HRF) among premature infants.

METHODSSixty premature infants (gestational age ≤ 34 weeks) with HRF were randomized into NO and control groups between 2012 and 2013, with 30 cases in each group. Both groups received nasal continuous positive airway pressure (nCPAP) or mechanical ventilation. NO inhalation was continued for at least 7 days or until weaning in the NO group. The general conditions, blood gas results, complications, and clinical outcomes of the two groups were analyzed.

RESULTSThe NO group showed significantly more improvement in blood gas results than the control group after 12 hours of treatment (P<0.05). After that, the change in oxygenation status over time showed no significant difference between the two groups (P>0.05). There were no significant differences in total time of assisted ventilation and duration of oxygen therapy between the two groups (P>0.05). The incidence of bronchopulmonary dysplasia (BPD), patent ductus arteriosus, necrotizing enterocolitis, retinopathy of prematurity, and pneumothorax in infants showed no significant differences between the NO and control groups (P>0.05), but the incidence of IVH and mortality were significantly lower in the NO group than in the control group (7% vs 17%, P<0.05; 3% vs 13%, P<0.05).

CONCLUSIONSNO inhalation may improve oxygenation status and reduce the mortality in premature infants with HRF, but it cannot reduce the incidence of BPD and the total time of mechanical ventilation or nCPAP and duration of oxygen therapy. NO therapy may have a brain-protective effect for premature infants with HRF and does not increase clinical complications.

Administration, Inhalation ; Blood Gas Analysis ; Bronchopulmonary Dysplasia ; epidemiology ; Humans ; Hypoxia ; complications ; Incidence ; Infant, Newborn ; Infant, Premature ; Nitric Oxide ; administration & dosage ; Respiratory Insufficiency ; blood ; complications ; drug therapy

OBJECTIVETo investigate the characteristics of immune function in newborn infants of different gestational ages.

METHODSA total of 115 premature infants free of infection between June 1, 2012 and June 1, 2013 were divided into two groups according to their gestational age at birth: early preterm infant group (28-33+6 weeks, n=57) and late preterm infant group (34-36+6 weeks, n=58). Meanwhile, 88 full-term infants (37-41+6 week) were recruited to the control group. Venous blood samples were collected within 24 hours after birth. The percentages of lymphocyte subsets, such as CD3+, CD4+, CD8+, and CD19+ T cells and natural killer (NK) cells were measured by flow cytometry, and the absolute count of each population was calculated using the results from routine blood work. Concentrations of serum IgG, IgA, and IgM were measured by immunoturbidimetry.

RESULTSBoth preterm infant groups had significantly higher percentages of CD3+ and CD4+ T cells and CD4+/CD8+ ratio (P<0.05) and significantly lower percentages of CD8+ and CD19+ T cells and NK cells (P<0.05), as compared with the full-term infant group. The absolute counts of total lymphocytes, CD3+, CD4+, CD8+, and CD19+ T cells, and NK cells in both preterm infant groups were significantly lower than those in the full-term infant group (P<0.05), and the above parameters in the late preterm infant group were significantly higher than those in the early preterm infant group (P<0.05). Both preterm infant groups showed significantly lower concentrations of serum IgG than the full-term infant group (P<0.05), while no significant differences in concentrations of serum IgA and IgM were observed between the three groups (P>0.05).

CONCLUSIONSNeonatal gestational age has an effect on cellular and humoral immunity. The immune function gradually improves with increasing gestational age.

CD4-CD8 Ratio ; Gestational Age ; Humans ; Immunity, Cellular ; Immunity, Humoral ; Immunoglobulins ; blood ; Infant, Newborn ; Infant, Premature ; immunology ; Lymphocyte Count

Objective To investigate the value of multi-phase MRI-based radiomics machine learning models in differentiating small renal cell carcinoma(sRCC)from fat-poor renal angiomyolipoma(fp-AML).Methods 79 cases of sRCCs and 35 cases of fp-AMLs(diameter≤4 cm)which were confirmed by pathology were retrospectively analyzed.The volume of interest(VOI)of the total tumor was manually delineated on the images of T2WI(T2),unenhanced phase(UP),corticomedullary phase(CMP)and nephrographic phase(NP)and then the radiomics of the VOIs were extracted respectively.The training set and the test set were set according to the ratio of 7∶3.The t-test,maximal relevance and minimal redundancy(mRMR)and the least absolute shrinkage and selection operator(LASSO)were used to select the radiomics features.The selected features were used to build classification models with logistic regression(LR)and support vector machine(SVM).The receiver operating characteristic(ROC)curve was used to evaluate the classification performances of the models.Results There were 4,12,3,11 and 15 optimal features obtained from T2、UP、CMP、NP and the combined four phases,respectively.The radiomics features based on NP or the combined four phases with LR model performed best,AUCs were respectively 0.956,0.986 in the training set and both were 0.881 in the test set.Conclusion The multi-phase MRI-based radiomics machine learning model has favorable diagnostic performance in differentiating sRCC from fp-AML.

OBJECTIVETo assess the value of magnetic resonance (MR) myocardial perfusion imaging (MRMPI) in evaluating the myocardial viability in patients with myocardial infarction.

METHODSMRMPI was performed in 51 patients with myocardial infarction using a 1.5 T MR scanner. All the patients were examined using IR-turbo FLASH sequence during the first-pass and delayed phase 5-30 min after injection of 0.1 mmol/kg Gd-DTPA at the rate of 4 ml/s. The short axis images were acquired during the first-pass, and both the short axis and long axis images were obtained during the delayed phase. The left ventricular wall on the short-axis slice was divided into 8 segments. A correlative study of the results of the rest and stress (99m)Tc single photon emission computed tomography (SPECT) was carried out in 21 patients.

RESULTSIn the 51 patients with myocardial infarction, 42(82.3%) showed hypoperfusion during the first-pass imaging and 50(98%) had delayed hyperenhancement. In the 21 patients receiving SPECT, 48 nonviable segments was detected among the 168 segments scanned by (99m)TcSPECT, and MRMPI showed delayed hyperenhancement in all the infracted areas. Of the 120 viable segments detected by rest and stress (99m)Tc SPECT, 97 segments (80.8%) were found to be free of delayed hyperenhancement by MRMPI. With the rest and stress (99m)Tc SPECT as the reference, the sensitivity and the specificity of MRMPI were 100.0% and 80.8%, respectively.

CONCLUSIONMRMPI allows effective identification of the myocardial viability and nonviability as well as the severity and extent of the myocardial infraction.

Adult ; Aged ; Aged, 80 and over ; Coronary Angiography ; Female ; Gadolinium DTPA ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Myocardial Infarction ; diagnosis ; diagnostic imaging ; physiopathology ; Myocardial Perfusion Imaging ; methods ; Sensitivity and Specificity ; Tomography, Emission-Computed, Single-Photon