The data of 1 case diagnosed with hyperphenylalaninemia (HPA) combined with Cornelia de Lange syndrome (CdLS) by neonatal screening in Newborn Disease Screening Center, Liaocheng Maternal and Child Health Hospital in February 2018 were analyzed retrospectively.The patient was a girl, 22 months old, with clinical features of specific facial appearance, excessive body hair (especially on the forehead and face), dark and thick hair on the head, a low hairline, a heavy and straight brow, lower ear positions, a small nose, a shallow philtrum, a simian line, strong and rhythmic heart sounds, no murmur in the precordial area, clear respiratory sounds of both lungs, purple marbling patterns on the whole body skin, a soft abdomen, and high muscle tension of limbs.The gene mutation c. 1256A>G(p.Q419R) of the polyclonal antibody( PAH) originated from the patient′s mother, while the mutation c. 4421G>A(splicing) derived from the patient′s father. SMC1A gene was X-linked dominant inheritance, and c. 1979_1980insTGAA was a spontaneous mutation.In this paper, the diagnosis and treatment of HPA and clinical and genetic variation characteristics of 23 CdLS cases in China were reviewed, so as to improve the knowledge of doctors about HPA combined with CdLS.

OBJECTIVE:To compare the healing effect of traditional therapy versus the traditional therapy in combination with additional externally applied agent on the traumatic tympanic membrane perforation with a focus on the effect of recombinant human epidermal growth factor(rhEGF) in promoting healing of tympanic membrane perforation.METHODS:A total of 90 patients with traumatic tympanic membrane perforation were randomly divided into two groups:one group received traditional therapy in which the anti-inflammatory drug was given plus nasal administration with water not allowed entering in the external acoustic meatus;another group was treated with traditional therapy plus rhEGF cotton applied externally.The healing of the tympanic membrane perforation and the auditory acuity improvement in two groups were monitored.RESULTS:In rhEGF group(58 cases),the cure rate reached 100%,with an average healing time of 5.3 days;Of the 32 cases in the traditional therapy group,7 were not failed,and 25(78%) healed,with an average healing time of 28.4 days.The healing time of tympanic membrane perforation in rhEGF group was significantly shorter than in traditional group,showing significant difference(P

Objective To establish erythromycin resistance models of Streptococcus pneumoniae for analysis of the mutations in the binding domain of erythromycin. Methods Streptococcus pneumonia tigr4 and two clinical sensitive isolates were induced with erythromycin by minimum inhibitory concentration (MIC) method for antimicrobial susceptibility, and then the rplD, rplV genes, and 23S rRNA in sensitive and resistant strains were amplified by PCR and RT-PCR for sequencing. CPHmodels-2.0 was used to predict the spatial structures of ribosomal protein L4 and L22 coded by rplD and rplV genes. Results MIC of Streptococcus pneumonia tigr4 increased from 0.0312 mg/L to 256mg/L while MICs of the two clinical isolates increased from 0.0312 mg/L to 32 mg/L. Comparison of the pre-and post-induction results showed V32A mutation in ribosomal protein L4, D35G mutation in ribosomal protein L22, and 67QK68 to 67RE68 mutations in ribosomal protein L4. Changes in spatial structure was found in SiThe ribosomal protein L22 and ribosomal protein L4 due to D35G, Q67R, and K68E mutations respectively. Conclusion Streptococcus pneumonia can be induced to resistant to erythromycin in vitro. The mechanisms of resistance may be relate to the new mutations in the binding domain of erythromycin.

A pregnant female taken realgar because of superstition, which caused the baby congenital deafness. Auditory test indicated that bilateral auditory brainstem response (ABR) hearing threshold level was greater than 90 dB nHL and auditory steady state response (ASSR) hearing level ranging from 0.5 kHz to 4 kHz was beyond 110 dB HL. Temporal bone CT showed that bilateral cochlear and semicircular canal malformations, with internal auditory canal broadened.
Arsenicals ; adverse effects ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Loss, Sensorineural ; chemically induced ; congenital ; Hearing Tests ; Humans ; Infant ; Maternal Exposure ; adverse effects ; Pregnancy ; Semicircular Canals ; pathology ; Sulfides ; adverse effects ; Temporal Bone ; pathology

Objective To study the effect of lipoteichoic acid(LTA) of Bifidobacterium on the expression of vascular endothelial growth factor(VEGF) and invasion and metastasis of colon carcinoma cell lines.Methods The effects of LTA on adhesion,invasion and metastasis of human colon carcinoma lines LoVo and HT-29 in vitro were examined by MTT colorimetric and transwell chamber.The mRNA and protein expressions of VEGF in the two colon carcinoma cells treated with LTA were detected by RT-PCR and Western blot.Results The adhesion ability decreased in LoVo cells and HT-29 cells after the treatment of LTA(20,50,80 ?g/ml) for 30,60,90,120 min(P

Objective To explore the effects and mechanisms of ursolic acid on drug-resistant SKOV3/DDP ovarian carcinoma xenografts in nude mice. Methods The models of drug-resistant SKOV3/DDP ovarian carcinoma on athymic mouse were established and randomly divided into four groups with intraperitoneal injection of different drugs: blank control (0. 9%sodium chloride solution ) , cisplatin ( 4 mg·kg-1 ·d-1 ) , ursolic acid low dose ( 30 mg·kg-1 ·d-1 ) , and high dose (60 mg·kg-1·d-1). All drugs were injected at volumes of 10 mL·kg-1 perday for 15 days. The tumor volumes were measured during the process of drug treatment every three days. After 14 days, The tumorigenic rate and tumor inhibition rate were calculated. RT-PCR and Western blotting were performed to detect the expression of Bcl-2 and Bax. Results Anti-tumor rates of cisplatin group , low dose ursolic acid group, and high dose ursolic acid group was 33. 3%, 43. 3%, and 71. 0%, respectively. Bcl-2 expressions were down-regulated, while Bax expressions were up-regulated in all three groups. Conclusion Ursolic acid has some anti-tumor activity on cisplatin-resistant human ovarian cancer SKOV3 /DDP cell in nude mice. It can inhibit tumor growth with dose-effect relationship. The mechanism may be to suppress the expression of anti-apoptotic factor Bcl-2 and to increase the expression of apoptosis-promoting factors Bax.

Objective To compare theshort-term efficacy and safety between TP and PVB scheme chemoradiation for advanced cervical cancer. Methods Between January 2012 and January 2014, 187 Xinjiang uygur patients with advanced cervical cancer (stageⅡb to Ⅳa) who received concurrent chemoradiotherapy in Xinjiang medical university affiliated tumor hospital were analyzed. A1l cases were divided into two groups receiving radiotherapy concomitant (n = 104), PVB group (n = 83). Theshort-term efficacy and toxicity was evaluated four weeks aftertreatment. Results For squamous cell carcinomas, the response rates were 85.9% and 73.5% in TP and PVB group respectively (P > 0.05). For Non-squamous cell carcinomas (adenocarcinoma and adenosquamous), the response rates were 75.7% and 40% in TP and PVB group respectively (P < 0.05). B one marrow suppression, neurotoxicity, gastrointestinal reactionwere significant different between two groups (P <0.05). Liver and kidney functiondisorder, blood cellsreduction, and radiation damagewere not significantly different (P > 0.05). Conclusions For cervical squamous cell carcinomas, theshort-term efficacy of two chemotherapy regimens is similar while forNon-squamous cell carcinomas, TP regimengroup is superior toBone marrow suppression and neurotoxicity in TP regimengroup is significantly higher than PVB group (P < 0.05), while gastrointestinal adverse reaction lower than PVBgroup.

Rat models of diabetes were established by injecting streptozocin intraperitoneally.According to random number table,three groups were divided:normal group,diabetic group,and fisetin-treated group.After 24 weeks,all rats were sacrificed.Biochemical parameters of blood and urine samples were tested.The pathological changes were observed by paraffin sections staining with HE.The expression of extracellular matrix proteins was analyzed via PAS and Masson staining.Location of p300 protein expression was analyzed by immunohistochemistry.The protein expressions of p300 and MMP-2 were determined by Western blotting.The mRNA expressions of MMP-2 were analyzed via real-time PCR.The biochemical parameters and kidney pathological images in fisetin-treated group were better than those in diabetic group.The expression of extraeellular matrix proteins was lower than that in diabetic group.Immunohistochemistry analysis showed that among three groups the expression of p300 was mainly in glomeruli,and was also expressed in cell nucleus and cytoplasm and the coloration of fisetin-treated group was weakened as compared with diabetic group.Western blotting analysis showed that the expression of p300 protein in fisetin-treated group was lower than that in diabetic group(P＜O.05).The expressions of MMP-2 mRNA and MMP-2 protein were higher than those in diabetic group (P ＜ 0.05).It is suggested that fisetin may attenuate diabetes associated abnormalities in the kidney of rats,owing probably to inhibiting the expressions of p300 and enhancing the expressions of MMP-2.

Objective To evaluate the effects of propolis on the growth of S.mutans ATCC 25175(S.m),S.sobrinus 6715(S.s) and their fluoride-resistant strains(S.m-FR,S.s-FR),and the change of their glucosyltransferase(GTF).Methods S.m and S.s were induced with sodium fluoride by minimum inhibitory concentration(MIC) to induce fluoride-resistant strains(S.m-FR and S.s-FR).Fluid dilution method was used to observe the effects of different levels of propolis on growth of S.m,S.m-FR,S.s and S.s-FR.Chemistry enzyme analysis was used to detect the influence of propolis on the enzyme activity of GTF.Results MIC of propolis for S.m,S.m-FR,S.s and S.s-FR were respectively 0.39,0.78,0.20 and 0.39 g/L.MBC of propolis for them were respectively 0.78,1.56,1.56,and 1.56 g/L.GTF of S.m,S.m-FR,S.s,and S.s-FR was decreased gradually with the increase of concentration of propolis.There were significant differences among total sample groups,and each experimental group and positive control group as well(P

Objective:To explore molecule mechanism about anti-aging of bifidobacterium by investigating the effect of lipoteichoic acid (LTA) of bifidobacterium on thymus of aging mice induced by D-galactose.Methods:Male Kunming mice were divided into different groups at random. These mice were induced aging by subcutaneous injection of D-galactose on the back of mice and LTA was simultaneously administered to them daily for 40 days. Body weight, thymus index ,thymus morphology, thymus c-fos, p16 production and peripheral blood IL-2 concentration were tested by HE staining, immunochemistry method, ELISA and other methods. Results:There were significant differences for body weight ,thymus index, thymus morphology,thymus p16, c-fos production and peripheral blood IL-2 concentration between the young control group and the aging model group. Whereas, LTA can improve thymus morphology ,increase body weight ,thymus index and c-fos production, meamwhile, decrease thymus p16 and peripheral blood IL-2 concentration of aging model mice. Conclusion:The results showed that LTA can remarkably delay thymus aging, and it may be a molecular mechanism of bifidobacterium delaying immunosenescent.