Objective To explore the clinical and laboratory features,and gene diagnosis method of Menkes disease (MD).Methods The clinical and laboratory features and gene diagnosis method of 2 infants with MD were reviewed.Results (1) Clinical features:both infants mentioned in this article were male.Their clinical manifestations were both began at 3-4 months age,including peculiar kinky hair,pale skin,pudgy cheeks,inguinal hernia,vessel abnormality,epilepsy and mental retardation.(2) Laboratory features:the ceruloplasmin concentrations significantly reduced to be ＜ 20 mg/L and 47 mg/L,respectively.The magnetic resonance angiogram images of case 1 showed the abnormal tortuosity of his intracranial vessels.The magnetic resonance images of case 2 showed a rapid progress from normal to severe brain atrophy within half a year.(3) Gene diagnosis:the sequencing of ATP7A gene in case 1 showed a nonsense mutation of c.2110 C ＞ T.The pathogenicity of this mutation had not been reported previously at home and abroad.The sequencing of the gene panel without pathogenic mutation was detected in case 2.But the multiplex ligation-dependent probe amplification test showed a gross deletion of ATP7A gene containing 8-12 exons.This mutation had been documented as a pathogenic mutation of MD.Both mothers of 2 patients were heterozygous mutation carriers of normal phenotype.Conclusions MD is a multisystemic disease caused by ATP7A gene mutation resulting in copper metabolism disorder.MD is inherited as an X-linked recessive trait.MD is characterized by kinky hair,connective tissue abnormalities and progressive neurodegeneration.Clinical diagnosis can be made on the basis of clinical features,findings of blood biochemical examination,and radiological findings.Gene sequencing and multiplex ligation dependent probe amplification test are the main technique widely used for genetic diagnosis.

Objective To study the significance of the expressions of HIF-1? and E-cadherin in cervical carcinoma. Methods The expressions of HIF-1? and E-cadherin (E-cad) were determined in the clinical specimens of 109 cases of cervical carcinoma, 16 cases of cervical intraepithelial neoplasm and 10 cases of normal cervical tissue with immunohistochemical assay. Results There was nearly no expression of HIF-1? in the normal cervical tissue. The positive expression of HIF-1? and E-cad were 81.4% (70/86) and 28.6% (25/86) respectively in the tissue of invasive cervical carcinoma. The rate of positive expression of HIF-1? was significantly higher in invasive cervical carcinoma than in normal cervical tissue and cervical intraepithelial neoplasm (P

Morus alba L. (mulberry) is a well-known deciduous tree, belonging to the genus of Morus of Moraceae famlily. Its leaves, twigs, roots (bark) and fruits are widely used in the traditional Chinese medicine. The active constituents of mulberry contained flavonoids, alkaloids, steroids, coumarins, with the significant hypoglycemic, hypolipidemic, antihypertension, anti-oxidation, anti-inflammatory, anti-bacterial, anti-tumor and immunomodulatory activities. This review summarized the research progress of the major pharmacological activity, pharmacokinetics and drug-drug interaction based on CYPs and transporters of mulberry and its active constituents.
Alkaloids ; pharmacology ; Coumarins ; pharmacology ; Flavonoids ; pharmacology ; Fruit ; chemistry ; Herb-Drug Interactions ; Humans ; Medicine, Chinese Traditional ; Morus ; chemistry ; Plant Extracts ; pharmacology ; Plant Leaves ; chemistry ; Plant Roots ; chemistry ; Steroids ; pharmacology

Pegylated interferon plus ribavirin is still the standard treatment for hepatitis C,but the efficacy is often restricted by adverse events.HCV genotypes,viral dynamics during early treatment and gene polymorphism may be useful in predicting the efficacy of antiviral treatment.Several strategies have emerged to improve outcomes including low accelerating dose regimen (LADR) and prevention of complications.Direct antiviral drugs have been already used for HCV genotype 1 patients,and demonstrated improved efficacy.Besides,inhibitors and vitamin D may also be applied in antiviral therapy to improve the efficacy.This article reviews efficacy predictors,standard therapy,strategies and research on new medicaments in antiviral treatment of hepatitis C.

Morus alba L. (mulberry) is a well-known deciduous tree, belonging to the genus of Morus of Moraceae famlily. Its leaves, twigs, roots (bark) and fruits are widely used in the traditional Chinese medicine. The active constituents of mulberry contained flavonoids, alkaloids, steroids, coumarins, with the significant hypoglycemic, hypolipidemic, antihypertension, anti-oxidation, anti-inflammatory, anti-bacterial, anti-tumor and immunomodulatory activities. This review summarized the research progress of the major pharmacological activity, pharmacokinetics and drug-drug interaction based on CYPs and transporters of mulberry and its active constituents.

Objectives To investigate the clinical significance of degree Ⅲ meconium-stained amniotic fluid in term pregnancy.Methods Data of 857 full-term gravidas underwent cesarean section for suspected fetal distress in Peking University First Hospital from October 1,2012 to September 30,2014 were retrospectively analyzed.All patients were divided into three groups according to the diagnosis of suspected fetal distress:meconium-stained amniotic fluid group (Group 1,n=172),fetal heart abnormality group (Group 2,n=623) and meconium-stained amniotic fluid in combination with fetal heart abnormality group (Group 3,n=62).General information and fetal prognosis of the three groups were analyzed.Factors that might affect the prognosis of newborns were analyzed between the infants with or without acidosis,asphyxia or aspiration pneumonia.Analysis of variance,independent-samples t test,Chi-square test and rank-sum test were used as statistical methods.Results There were no significant differences in maternal age,gestational age at delivery,parity,nuchal cord loop(s),pH value of umbilical arterial blood and gender of newborns among the three groups (all P＞0.05).The neonatal Apgar score,neonatal asphyxia rate and rate of admitting into pediatric ward within 24 hours after birth in Group 1 were similar to those of Group 2 and 3 [1 min Apgar score:9.9±0.7 vs 9.8±0.7 and 9.8±0.7,F=0.322;5 min Apgar score:10.0±0.3 vs 10.0±0.2 and 10.0±0.0,F=0.517;neonatal asphyxia rate:1.7％ (3/172) vs 2.1％ (13/623) and 1.6％ (1/62),x2=0.129;rate of admitting into pediatric ward:16.3％ (28/172) vs 14.3％ (89/623) and 11.3％ (7/62),x2-0.978] (all P＞0.05).The incidence of neonatal aspiration pneumonia in Group 1 was higher than that of Group 2 and 3 [4.7％ (8/172) vs 3.2％ (2/62) and 1.0％ (6/623)],but the differences had no statistical significance (F=10.680,P=0.050).Conclusions Both degree Ⅲ meconium-stained amniotic fluid and abnormal fetal heart rate have the same indicating significance and should be treated actively to lower the risk of poor prognosis of the newborns.

Objective To evaluate the contrast enhanced CT manifestations of lymphoma involving cervical lymph node and to compare with features of metastatic squamous cell carcinoma. Methods CT findings of cervical lymph node were reviewed in 56 patients (male 44, female 12; age: 9-75 year, median 42 year) with untreated lymphoma and 66 patients (male 51, female 15; age: 16-76 year, median 48 year) with squamous cell carcinoma. Four patterns of enhanced nodes were identified: Type I: homogeneous enhancement with an attenuation equal or similar to that of muscle. Type Ⅱ: heterogeneous enhancement with an attenuation much higher than that of muscle. Type Ⅲ: central low density with peripheral enhancement. The enhanced rim was thick and irregular (ⅢA), or thin and regular (ⅢB). Type Ⅳ: central soft tissue density with a very thin enhanced capsule. Results There were various manifestations of cervical nodes of malignant lymphoma, more than one type of abnormalities could be found simultaneously. Type I(47/56, 83.9%) and Type Ⅳ(15/56, 26 8%) were almost exclusively found in lymphoma. Type Ⅱ was more commonly seen in squamous cell carcinoma (31/66, 47%), but was rarely seen in lymphoma (8/56, 14 3%). Type Ⅲ can be seen in both of these disease entities (lymphoma 21/56, 37 5%; squamous cell carcinoma 52/66, 78 8%) , but was more common in squamous cell carcinoma ( P

AIM: To establish HPLC fingerprint to make the difference between pre-and post processed Radix et Rhizoma Gentiana rigescen with wine-fried method. METHODS: Chromatographic fingerprint between pre-and post processed Radix et Rhizoma Gentiana rigescen with wine-fried was investigated by RP-HPLC and the gradient elution with acetonitrile and 0.1% phosphoric acid was applied to chromatographic separation(Alltima C_18(4.6 mm ?250 mm,5 ?m) column) for 65 min,and detection wavelength of 225 nm.Data were analysed by fingerprint similarity evaluation software to compare the similarity among the samples. RESULTS: The similitude degree of the10 batches of pre-and post processed Radix et Rhizoma Gentiana rigescen with wine-fried method were between 0.935-0.997 and 0.964-0.999,respectively.Comparing with the common processing of the HPLC fingerprint of Radix et Rhizoma Gentiana rigescen,the similarity of Radix et Rhizoma Gentiana rigescen processed with wine-fried was greater than 0.900. CONCLUSION: There have no significant deviation between semipolarity components of the pre-and post processed Radix et Rhizoma Gentiana rigescen with wine-fried method. The proportion of the main relative peak area has changed.

OBJECTIVE To prevent the nosocomial infection event in the clinical laboratory. METHODS To enhance the conception of self-protection,amplify necessary rules and regulation,fine technique training,establish the health-record of the department staff,purchase the facilities of protection,and disinfect the instrument and environment of laboratory even the test report sheet. RESULTS By means of above mentioned measures and management,it could control in most degree of nosocomial infection in clinical laboratory,and ensure the safety and health of the department staff. CONCLUSIONS The nosocomial infection event of clinical laboratory can be prevented by amplification of necessary rules and regulation as well as enhancement of the management.

Feeding difficulty is a widespread problem with high incidence in the premature infant and small for gestational age. There are many factors to impact the feeding difficulty in premature and small for ges-tational age,including suffocation,primary disease,gestational age,milk time,pregnancy factors,environmental factors,hormone levels. In this paper,we summarize the feeding difficulties′ etiology,pathogenesis,treatment a-bout premature and small for gestational age,aimed at providing the basis of feeding difficulties′prevention and cure for premature and small for gestational age.