Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS).@*METHODS@#Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed.@*RESULTS@#On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent.@*CONCLUSION@#SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.

Regulatory effects of bio-intensity electric field on transformation of human skin fibroblasts / 中华烧伤杂志

Objective: To investigate the regulatory effects of bio-intensity electric field on the transformation of human skin fibroblasts (HSFs). Methods: The experimental research methods were used. HSFs were collected and divided into 200 mV/mm electric field group treated with 200 mV/mm electric field for 6 h and simulated electric field group placed in the electric field device without electricity for 6 h. Changes in morphology and arrangement of cells were observed in the living cell workstation; the number of cells at 0 and 6 h of treatment was recorded, and the rate of change in cell number was calculated; the direction of cell movement, movement velocity, and trajectory velocity within 3 h were observed and calculated (the number of samples was 34 in the simulated electric field group and 30 in 200 mV/mm electric field group in the aforementioned experiments); the protein expression of α-smooth muscle actin (α-SMA) in cells after 3 h of treatment was detected by immunofluorescence method (the number of sample was 3). HSFs were collected and divided into simulated electric field group placed in the electric field device without electricity for 3 h, and 100 mV/mm electric field group, 200 mV/mm electric field group, and 400 mV/mm electric field group which were treated with electric fields of corresponding intensities for 3 h. Besides, HSFs were divided into simulated electric field group placed in the electric field device without electricity for 6 h, and electric field treatment 1 h group, electric field treatment 3 h group, and electric field treatment 6 h group treated with 200 mV/mm electric field for corresponding time. The protein expressions of α-SMA and proliferating cell nuclear antigen (PCNA) were detected by Western blotting (the number of sample was 3). Data were statistically analyzed with Mann-Whitney U test, one-way analysis of variance, independent sample t test, and least significant difference test. Results: After 6 h of treatment, compared with that in simulated electric field group, the cells in 200 mV/mm electric field group were elongated in shape and locally adhered; the cells in simulated electric field group were randomly arranged, while the cells in 200 mV/mm electric field group were arranged in a regular longitudinal direction; the change rates in the number of cells in the two groups were similar (P>0.05). Within 3 h of treatment, the cells in 200 mV/mm electric field group had an obvious tendency to move toward the positive electrode, and the cells in simulated electric field group moved around the origin; compared with those in simulated electric field group, the movement velocity and trajectory velocity of the cells in 200 mV/mm electric field group were increased significantly (with Z values of -5.33 and -5.41, respectively, P<0.01), and the directionality was significantly enhanced (Z=-4.39, P<0.01). After 3 h of treatment, the protein expression of α-SMA of cells in 200 mV/mm electric field group was significantly higher than that in simulated electric field group (t=-9.81, P<0.01). After 3 h of treatment, the protein expressions of α-SMA of cells in 100 mV/mm electric field group, 200 mV/mm electric field group, and 400 mV/mm electric field group were 1.195±0.057, 1.606±0.041, and 1.616±0.039, respectively, which were significantly more than 0.649±0.028 in simulated electric field group (P<0.01). Compared with that in 100 mV/mm electric field group, the protein expressions of α-SMA of cells in 200 mV/mm electric field group and 400 mV/mm electric field group were significantly increased (P<0.01). The protein expressions of α-SMA of cells in electric field treatment 1 h group, electric field treatment 3 h group, and electric field treatment 6 h group were 0.730±0.032, 1.561±0.031, and 1.553±0.045, respectively, significantly more than 0.464±0.020 in simulated electric field group (P<0.01). Compared with that in electric field treatment 1 h group, the protein expressions of α-SMA in electric field treatment 3 h group and electric field treatment 6 h group were significantly increased (P<0.01). After 3 h of treatment, compared with that in simulated electric field group, the protein expressions of PCNA of cells in 100 mV/mm electric field group, 200 mV/mm electric field group, and 400 mV/mm electric field group were significantly decreased (P<0.05 or P<0.01); compared with that in 100 mV/mm electric field group, the protein expressions of PCNA of cells in 200 mV/mm electric field group and 400 mV/mm electric field group were significantly decreased (P<0.05 or P<0.01); compared with that in 200 mV/mm electric field group, the protein expression of PCNA of cells in 400 mV/mm electric field group was significantly decreased (P<0.01). Compared with that in simulated electric field group, the protein expressions of PCNA of cells in electric field treatment 1 h group, electric field treatment 3 h group, and electric field treatment 6 h group were significantly decreased (P<0.01); compared with that in electric field treatment 1 h group, the protein expressions of PCNA of cells in electric field treatment 3 h group and electric field treatment 6 h group were significantly decreased (P<0.05 or P<0.01); compared with that in electric field treatment 3 h group, the protein expression of PCNA of cells in electric field treatment 6 h group was significantly decreased (P<0.01). Conclusions: The bio-intensity electric field can induce the migration of HSFs and promote the transformation of fibroblasts to myofibroblasts, and the transformation displays certain dependence on the time and intensity of electric field.

Protective effect of total triterpenoids from Chaenomeles speciosa against Helicobacter pylori-induced gastritis in mice / 中国中药杂志

This study investigated the protective effect of total triterpenoids from Chaenomeles speciosa against Helicobacter pylori(Hp)-induced gastritis in mice and explored its possible mechanism. The chronic atrophic gastritis(CAG) model mice were randomly divided into four groups of model, total triterpenoids from C. speciosa(50 and 100 mg·kg~(-1)) and triple therapy, with C57 BL/6 J mice without Hp infection taken as the normal group. Mice in the treatment groups were given corresponding drugs once a day for 4 weeks. Then the following indexes were detected: the contents of reactive oxygen species(ROS), monocyte chemotactic protein 1(MCP-1), keratinocyte chemokines(KC), TNF-α, IL-1β, IL-6, IL-18, IL-4 and IL-10 in blood and gastric tissue, the activities and contents of LDH, MPO, SOD, GSH-Px, CAT and MDA in gastric tissue and the activities of β-glucuronidase, β-galactosidase, cathepsins B and D in blood, gastric tissue and lysosome. Besides, the mRNA expression levels of Toll-like receptor 4(TLR4), myeloid differentiation factor 88(MyD88), Bcl-2, Bcl-xl, Bax and Bad in gastric tissue were determined by quantitative real-time PCR. Western blot was employed to detect the protein expression levels of TLR4, MyD88, p-IKKβ, p-IκBα, NOD-like receptor 3(NLRP3), apoptosis-associated speck-like protein(ASC), pro-caspase-1, caspase-1, thioredoxin-interacting protein(TXNIP), pro-IL-1β, pro-IL-18, Bcl-2, Bcl-xl, Bax, Bad, cytochrome C, apoptotic protease-activating factor-1(Apaf-1), pro-caspase-9, pro-caspase-3, cleaved-caspase-9, cleaved-caspase-3, poly(ADP-ribose) polymerase 1(PARP-1), cleaved-PARP-1 and cytosol and nucleus NF-κB p65 in gastric tissue. The results indicated that the total triterpenoids from C. speciosa significantly suppressed Hp proliferation, alleviated the damage to gastric mucosa and improved lymphocyte infiltration and gland atrophy. They were also effective in reducing the activities of β-glucuronidase, β-galactosidase, cathepsins B and D in blood and gastric tissue, elevating the activities of β-glucuronidase and cathepsin D in lysosomal organelles, decreasing the contents of ROS, MCP-1, KC, TNF-α, IL-1β, IL-6, IL-18 in blood, MDA content and MPO and LDH activities in gastric tissue and increasing the contents of IL-4 and IL-10 in blood and activities of SOD, CAT and GSH-Px in gastric tissue. Other phenomena were also observed after the treatment with total triterpenoids from C. speciosa, including the down-regulation of the mRNA and protein expression levels of TLR4, MyD88, Bax and Bad, the protein expression levels of p-IKKβ, p-IκBα, NLRP3, ASC, pro-caspase-1, caspase-1, TXNIP, pro-IL-1β, pro-IL-18, cytochrome C, Apaf-1, cleaved-caspase-9, cleaved-caspase-3, cleaved-PARP-1 and nuclear NF-κB p65, reduction of p-IKKβ/IKKβ and p-IκBα/IκBα ratios and up-regulation of the mRNA and protein expression levels of Bcl-2 and Bcl-xl, up-regulation of pro-caspase-9, pro-caspace-3, cytosol NF-κB p65 protein expression levels and Bcl-2/Bax and Bcl-xl/Bad ratios in gastric tissue. These aforementioned results suggest that the total triterpenoids from C. speciosa have significant protective effects against CAG induced by Hp, and its mechanism may be related to enhancing the function of endogenous antioxidant system, suppressing the oxidative stress and inflammatory reaction induced by Hp, correcting lysosomal dysfunction and inflammatory activation of TLR4/NF-κB/NLRP3 inflammasome signaling pathway and thus inhibiting mitochondria-mediated apoptosis.

Three-dimensional morphological changes in the temporomandibular joints of patients with anterior disc displacement with reduction / 华西口腔医学杂志

OBJECTIVES@#To investigate the differences in the temporomandibular joints (TMJs) between patients with anterior disc displacement with reduction (ADDwR) and asymptomatic subjects by using 3D morphometric measurements.@*METHODS@#A total of 15 patients with ADDwR and 10 asymptomatic subjects were enrolled. Then, 3D models of the maxilla and mandible were reconstructed using MIMICS 20.0. Nine morphologic parameters of TMJs on both sides were measured on the 3D solid model. The differences in the parameters were analyzed between the patients and the asymptomatic subjects and between the left and right sides of each group.@*RESULTS@#The horizontal and coronal condylar angles on the ipsilateral side of the patients were significantly greater than those of the asymptomatic subjects (@*CONCLUSIONS@#ADDwR will increase the condylar angles to be significantly greater than the normal level and decrease SRA and articular spaces to be significantly smaller than the normal level. The condyles will be displaced upward, closer to the fossa.

Inhibitiory effect of eight lignan compounds of Fructus Schisandrae chinensis on carboxylesterase 2 / 中国药理学与毒理学杂志

OBJECTIVE To investigate the inhibitory effect of eight lignan compounds of Fructus Schisandrae chinensis in vitro on carboxylesterase 2 (CES2) and to estimate the herb-drug interaction (HDI) risks of strong CES2 inhibitors selected from the above compounds. METHODS Fluorescein diacetate (FD) was employed as a specific fluorescent probe of CES2. The residual activity of CES2 was detected in human liver microsomes after the intervention with deoxyschizandrin, schisanhenol, schisantherin E, schisandrol A, schisandrol B, gomisin J, gomisin G, and gomisin O at 37℃ for 10 min, respectively. 1% DMSO served as control. Residual activity of CES2 was assessed with metabolite production of FD detected by fluorescent intensity, combined with IC50 values of the above compounds to predict HDI risks between lignans and CES2-metabolizing drugs. RESULTS Compared with control group, the activity of CES2 was significantly inhibited by deoxyschizandrin and schisanhenol (P<0.01), with IC50 values of 8.06 μmol · L- 1 and 8.91 μmol · L- 1, respectively. The other six lignans compounds exhibited mild inhibitory effect on CES2. HDI risk prediction of deoxyschizandrin or schisanhenol indicated that exposure of CES2-metabolizing drugs might increase 11.24 and 0.40 times, respectively. CONCLUSION Deoxyschizandrin and schisanhenol exhibit strong inhibitory effects against CES2 in vitro so that potential HDI risks should be taken into account during administration of drugs containing Fructus Schisandrae chinensis.

Natural hosts infected with Babesia in Fujian Province, China / 中国人兽共患病学报

We explored the status of Babesia infection in natural hosts in Fujian Province.Rodents in Fujian Province were captured by the night trapping method during 2014-2016.Heart blood samples were collected.At the same time blood samples of ox,goats and dogs were also collected,from which the fragments of 18S rRNA gene of Babesia were amplified by polymerase chain reaction (PCR).Data on infection rate were analyzed with Chi-square or Fisher exact test to indicate statistical significance.Results showed that 5 917 cages were laid and 381 rodents were captured,density of rodent was 6.44％.The o verall Babesia infection rate in rodents was 7.61％,while infection rate in domesticated rodents was 1.68％,and the infection rate in wide rodents was 12.87％.The infection rate was higher in wild rodents than that in domesticated rodents,and the statistical analysis result revealed a significant difference.The infection rates in region of Central Fujian and Eastern Fujian was high,and no infection was found in Southern Fujian region.The statistical analysis result revealed a significant difference in infection rate among different regions.The infection rate of goats and dogs were determined to be 1.79 ％ and 0.55 ％,and no infection was found in ox.The infection rate was higher in rodents than that in other host animals,and the statistical analysis result revealed a significant difference.It is suggested that the rodents,especially the wide rodents are the main natural hosts of Babesia.

Natural hosts infected with Babesia in Fujian Province, China / 中国人兽共患病学报

We explored the status of Babesia infection in natural hosts in Fujian Province.Rodents in Fujian Province were captured by the night trapping method during 2014-2016.Heart blood samples were collected.At the same time blood samples of ox,goats and dogs were also collected,from which the fragments of 18S rRNA gene of Babesia were amplified by polymerase chain reaction (PCR).Data on infection rate were analyzed with Chi-square or Fisher exact test to indicate statistical significance.Results showed that 5 917 cages were laid and 381 rodents were captured,density of rodent was 6.44％.The o verall Babesia infection rate in rodents was 7.61％,while infection rate in domesticated rodents was 1.68％,and the infection rate in wide rodents was 12.87％.The infection rate was higher in wild rodents than that in domesticated rodents,and the statistical analysis result revealed a significant difference.The infection rates in region of Central Fujian and Eastern Fujian was high,and no infection was found in Southern Fujian region.The statistical analysis result revealed a significant difference in infection rate among different regions.The infection rate of goats and dogs were determined to be 1.79 ％ and 0.55 ％,and no infection was found in ox.The infection rate was higher in rodents than that in other host animals,and the statistical analysis result revealed a significant difference.It is suggested that the rodents,especially the wide rodents are the main natural hosts of Babesia.

Clinical practice of multidimensional strategy to reduce neonatal ventilator-associated pneumonia / 临床儿科杂志

Objective To investigate the interventional effect of multidimensional strategy to reduce the incidence of neonatal ventilator-associated pneumonia.Methods The patients who were admitted to the NICU department and received mechanical ventilation (MV) for more than 48 hours from October 2012 to September 2014 were recruited. The control group received the experienced interventions from October 2012 to September 2013, neonates from October 2013 to September 2014 were recruited as the intervention group receiving multidimensional controlling strategy, including bundle care, education, pro-cess and outcome surveillance and feedback on the practices. The compliance of before-after implementation of interventions were quantitatively evaluated,and the rate of VAP was compared between the two groups.Results The compliance rate of hand hygiene and the qualiifed rate of sputum suction, oral care, drain condensation from ventilator circuit, semi-recumbent posi-tion, and preventing of stress-ulcers were increased 17.0%, 11.4%, 14.7%, 18.2%, 37.5% and 56.3% respectively after implemen-tation of multidimensional strategy, and had statistical difference (χ2=36.47-294.36,P0.05). The VAP rate was 41.7 cases per 1000 MV-days during control group and 19.7 cases per 1000 MV-days during intervention group, had statis-tical signiifcance (P0.05). ConclusionThe multidimensional strategy can effectively prevent the incidence of VAP.

Effect of the methylation enzyme inhibitors of 5-aza-2-deoxycytidine on the TGF-beta/smad signal transduction pathway in human keloid fibroblasts / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate the effect of 5-aza-2-deoxycytidine on the TGF-beta/smad signal transduction pathway in human keloid fibroblasts (KFSs).</p><p><b>METHODS</b>Firstly, immunohistochemical method was used to detect the positive expression rate of phospho-smad2 and phospho-smad3 in the specimens of 15 cases of keloid and 15 cases of normal skin. The keloid fibroblasts were cultured in vitro with 5-aza-2-deoxycytidine(experimental group) or with DMEM (control group). The effect of 5-aza-2-deoxycytidine on the cell cycle and apoptosis of fibroblasts was analysed with flow cytometry ( FCM). Transforming growth factor (TGF)-beta1, Smad7, phospho-smad2 and phospho-smad3 were analyzed by Western Blot, and Immunofluorescence.</p><p><b>RESULTS</b>It was found that the positive expression of phospho-smad2 and phospho-smad3 in keloid were higher than those in normal skin. The FCM showed that the proportion of cells in G0/G1 stage was increased, and so does the proportion of apoptosis cells in keloid fibroblasts intervened by 5-aza-2-deoxycytidine. The expression of TGF-beta1, phospho-smad2 and phospho-smad3 protein were significantly suppressed while the expression of smad7 protein increased in keloid fibroblasts with 5-aza-2-deoxycytidine. In addition, 5-aza-2-deoxycytidine reversed phosphorylation and nuclear translocation of smad2 and smad3.</p><p><b>CONCLUSIONS</b>5-aza-2-deoxycytidine, methylase inhibitors, inhibits cell proliferation and promotes apoptosis of KFSs, which may be associated with the suppression of TGF-beta/smad signal pathway.</p>

Expression and significance of JNK1, Raf-1 and Livin in the carcinogenesis of sporadic colorectal tubular adenoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To study the possible role of JNK1, Raf-1 and Livin in the carcinogenesis of sporadic colorectal tubular adenoma.</p><p><b>METHODS</b>Immunohistochemical staining was used to detect the expression of JNK1, Raf-1 and Livin proteins in 65 sporadic colorectal tubular adenomas with dysplasia of varying degrees and 22 colorectal tubular adenoma with cancerous area.</p><p><b>RESULTS</b>In normal colorectal mucosa, colorectal tubular adenoma with dysplasia and colorectal tubular adenoma with cancerous area, the positive rate of JNK1, Raf-1 and Livin expression was increased gradually. The positive expression of JNK1, Raf-1 and Livin was all significantly higher in the cases of colorectal tubular adenoma with dysplasia or with cancerous area than that in normal colorectal mucosa (P < 0.05), and the positive expression of JNK1, Raf-1 and Livin was significantly higher in colorectal tubular adenoma with cancerous area than that in colorectal tubular adenoma with dysplasia of different degrees (P < 0.05). In the cases of colorectal tubular adenoma with dysplasia of varying degrees, the positive expression of Raf-1 was increased along with the increasing dysplasia degree of colorectal tubular adenoma (P < 0.05). Coexpression of JNK1, Raf-1 and Livin increased gradually in the carcinogenesis of sporadic colorectal tubular adenoma, while positive correlation was found among the expressions of JNK1, Raf-1 and Livin.</p><p><b>CONCLUSION</b>JNK1, Raf-1 and Livin may be involved in the carcinogenesis of sporadic colorectal tubular adenoma.</p>

Correlation between PPARgamma and VEGF-C expression in extrahepatic cholangioadenocarcinoma (EHCAC) and their prognostic significance / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To evaluate the expression of vascular endothelial growth factor C (VEGF-C) and peroxisome proliferators-activated receptors (PPARgamma) in extrahepatic cholangioadenocarcinoma (EHCAC) and to elucidate its correlation with clinicopathological factors and their significance in prognosis.</p><p><b>METHODS</b>The expressions of PPARgamma and VEGF-C were detected by immunohistochemistry in 69 cases of EHCAC, 12 cases of non-tumor bile duct epithelium, and their relationship to clinicopathological parameters and follow-up were analyzed.</p><p><b>RESULTS</b>The positive rate of PPARgamma expression in 69 cases of EHCAC was 59.4%, significantly higher than that in 12 cases of non-tumor bile duct epithelium (0%), (P < 0.01). The positive rate of VEGF-C in 69 cases of EHCAC was 84.1%, also significantly higher than 16.7% in 12 cases of benign bile duct epithelium (P < 0.05). PPARgamma expression was associated with clinical TNM stage and lymph node metastasis. VEGF-C expression was associated with lymph node metastasis. Cox analysis results showed that portal vein and/or hepatic artery invasion, lymph node metastasis and VEGF-C expression were independent prognostic factors of EHCAC (P < 0.05).</p><p><b>CONCLUSION</b>PPARgamma expression may play an important role during tumorigenesis of extrahepatic cholangioadenocarcinoma. The expressions of PPARgamma and VEGF-C are significantly correlated with the clinicopathological characteristics and biological behavior of EHCAC. Expression of VEGF-C is an independent prognosis factors in EHCAC. The detection of PPARgamma and VEGF-C is valuable for evaluation of prognosis of EHCAC.</p>

The relationship between scarless wound healing and the expression of CD68 and CD3 in the immunocytes in fetal skin / 中华烧伤杂志

<p><b>OBJECTIVE</b>To investigate the difference in the distribution, amount and morphology of immunocytes in fetal skin, normal adult skin and hypertrophic scar, and to probe into their roles in fetal scarless wound healing from the dermatological and immunological point of view.</p><p><b>METHODS</b>Skin specimens obtained from 10 fetuses of induced labor (16 to 33 weeks gestation) due to incipient abortion, 7 adults, and 18 hypertrophic scars in different stages were collected for the detection of the expression and distribution of CD68 (the surface marker of macrophages) and CD3 (the surface marker of T-lymphocytes) with immunohistochemical assay.</p><p><b>RESULTS</b>The cells with positive expression of CD68 (CD68+ macrophages) in fetal skin [(5 +/- 6)/per 400 x visual field] were significantly lower than those in normal adult skin [(23 +/- 4) per/400 x visual field, P <0. 01], and they were obviously lower in normal skin than those in hypertrophic scar [(38 +/- 16)/per 400 x visual field, P < 0.01]. Along with their increase in gestational age, the CD68+ macrophages increased gradually. The cells increased in amount sharply during 24 - 28 gestational weeks, and then the increase slowed down after the 28th gestational week. The lymphocytes with CD3+ expression were not found in all the fetal stages, but were found in small amounts in adult skin [(24 +/- 8)/per 400 x visual field] which were mainly located in the epithelial basal lamina. But there were much more CD3+ lymphocytes [(69 +/- 25)/per 400 x visual field] in the HS, assembling usually in sheet form, and were chiefly distributed in dermal papillary layer around the small vessels in the shape of oversleeve. The cells were much more than those in normal adult skin (P <0.01) in terms of number and pigmentation intensity.</p><p><b>CONCLUSION</b>The low content of CD68+ macrophages in fetal skin might be related to certain extent to the scarless skin wound healing. At the same time, the scarless skin wound healing in fetus could be related to the lack of CD3+ lymphocytes in fetal skin.</p>