Clinical and genetic analysis of two cases of Prader-Willi syndrome / 中国综合临床

Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.

Serum levels and significances of miR-335 and miR-155 in primary gallbladder cancer / 国际肿瘤学杂志

Objective To investigate the serum levels and clinical significances of microRNA-335 (miR-335) and microRNA-155 (miR-155) in patients with primary gallbladder cancer (PCG).Methods A total of 96 PCG patients (PCG group) and 50 healthy controls (control group) admitted to the Second People's Hospital of Hainan Province from January 2016 to October 2018 were selected.Real-time quantitative PCR (RT-PCR) was used to detect the serum levels of miR-335 and miR-155 in each group.The relationships between miR-335 and miR-155 levels and clinical pathological characteristics of PCG patients were analyzed.The diagnostic value of miR-335 and miR-155 in PCG was analyzed by ROC curve.Results The serum level of miR-335 in PCG group was significantly lower than that in the control group (1.50 ± 0.42 vs.3.65 ± 1.18,t =10.319,P ＜0.001).The serum level of miR-155 in PCG group was significantly higher than that in the control group (3.18 ±0.61 vs.0.74±0.12,t =13.627,P＜0.001).The serum levels ofmiR-335 and miR-155 in PCG patients were correlated with TNM stage (t =4.863,P =0.024;t =5.117,P =0.008) and lymph node metastasis (t =5.725,P ＜ 0.001;t =6.802,P ＜ 0.001).ROC curve analysis showed that the critical values of serum miR-335 and miR-155 for diagnosing PCG were 1.18 and 2.35,respectively.The area under the curve of the two combined diagnosis of PCG (0.920,95％ CI:0.863-0.977) was the largest,with sensitivity and specificity of 93.8％ and 85.7％.Conclusion The low serum level of miR-335 and high level of miR-155 are associated with the higher TNM stage and lymph node metastasis of PCG,and the combined detection of the two is helpful to improve the diagnostic rate of PCG.

Efficacy of superficial temporal artery pressure-guided selective cerebral perfusion during deep hypothermic circulatory arrest in patients undergoing aortic arch surgery / 中华麻醉学杂志

Objective To evaluate the efficacy of superficial temporal artery(STA)pressure-guided selective cerebral perfusion(SCP)during deep hypothermic circulatory arrest(DHCA)in patients undergoing aortic arch surgery.Methods Ninety-six patients of both sexes,aged 35-64 yr,with body mass index of 19-23kg/m2,of American Society of Anesthesiologists physical status Ⅲ or Ⅳ,undergoing aortic arch surgery,were divided into STA pressure group(group A)and clinical experience group(group B)using a random number table,with 48 patients in each group.In group A,STA catheterization was performed after tracheal intubation,and arterial pressure was monitored.SCP flow was adjusted to maintain the target value of STA pressure between 30 and 40mmHg during DHCA in group A.SCP flow rate was set at 5-10ml·kg-1·min-1 according to clinical experience in group B.The volume of fluid perfused during SCP,emergence time,extubation time and duration of intensive care unit stay were recorded.Neurological function was evaluated during length of hospitalization after surgery,and the development of permanent and transient neurological dysfunction and mortality in hospital were recorded.Results Compared with group B,the volume of fluid perfused during SCP was significantly decreased,the emergence time,extubation time and duration of intensive care unit stay were shortened,the incidence of permanent and transient neurological dysfunction(2% and 4%,respectively)was decreased(P 0.05).Conclusion Maintaining STA pressure at 30-40mmHg is a reliable method for guiding SCP during DHCA in patients undergoing aortic arch surgery.

Isoflurane effects on the proliferation and differentiation of neural stem cells in the hippocampus of neonatal rats / 中国组织工程研究

BACKGROUND:Isoflurane is an anesthesia drug that has a certain effect on the nervous system. It possibly causes neurologic disorders through impacting nerve stem cel function or morphology. OBJECTIVE:To investigate the effects of isoflurane on the proliferation and differentiation of neural stem cels in the hippocampus of rats. METHODS:Neural stem cels from the hippocampus of neonatal Sprague-Dawley rats, aged 7 days, were induced and differentiated. Passage 3 cels were obtained and divided into two groups: isoflurane group (a mixture gas of 2.8% isoflurane, 5% CO2 and 95% O2) and control group (a mixture of 5% CO2 and 95% O2). After intervention of 6 hours folowed by 2 hours of routine culture, anti-BrdU monoclonal antibody immunofluorescent staining was used to detect cel proliferation, and western blot assay to detect the expression of β3-tubulin and glial fibrilary acidic protein. RESULTS AND CONCLUSION:Compared with the control group, the number of BrdU positive cels in the isoflurane group reduced significantly, indicating that isoflurane inhibits the proliferation of neural stem cels. Compared with the control group, the expression of glial fibrilary acidic protein in the isoflurane group up-regulated, but the expression of β3-tubulin had no changes, indicating isoflurane promotes the differentiation of neural stem cels into astrocytes. Cite this article:Min N, Hu QF, Li XP, Nie XH, Yang LL.Isoflurane effects on the proliferation and differentiation of neural stem cels in the hippocampus of neonatal rats. Zhongguo Zuzhi Gongcheng Yanjiu. 2016;20(1):118-122.

LFPs coding working memory task via information entropy using plugin method / 国际生物医学工程杂志

Objective Toinvestigatetheentropyoflocalfieldpotentials(LFPs)recordedinratmedialprefrontal cortex during a Y-maze working memory (WM) task, to provide computing support for neural coding mechanism.Methods Sixteen-channel LFPs were recorded from SD rats while they performed a Y-maze WM task.The data came from 4 rats, 20 trials (10 correct trials and 10 incorrect trials) per rat provided by laboratory of neurobiology in medicine,Tianjin Medical University.Original LFPs were preprocessed to remove 50 Hz power line noise and baseline drift.Multi-taper Fourier transform was applied to calculate spatial distributions of LFPs and band pass filter were used to extract characteristic signal.The entroy coding of 16 channel LFPs was as follows: the physiological window was set to be 500 ms, the step length of physiological window was set to be 125 ms, windows were added to LFPs data, and then LFPs entropy of each sliding window was computed and averaged to get the trend of multichannel entropy values duringthe WM task.Results The power of θ band (4-12 Hz) in LFPs increased.The averaged entropy value ofmultichannel θ band LFPs in correct trials was 0.939±-0.020, which were larger than those in the resting state, 0.795±0.031 (P＜0.05).Those during wrong WM task had no significant difference, which didn't encode the WM task.Conclusions The principal frequency band related to WM is the θ band and LFPs entropy encodes the WM effectively.

Correlation between food allergies and duodenal mast cell in patients with functional dyspepsia / 中华消化杂志

Objective To explore the correlation between food allergies and duodenal mast cells in pathogenesis with functional dyspepsia (FD).Methods The symptoms of FD were scored in 48 patients with FD,which included 23 patients with postprandial distress syndrome (PDS) and 25 patients with epigastric pain syndrome (EPS).The specimens of duodenal and descending part of duodenum mucosa were obtained under gastroscopy in 48 FD patients and 21 healthy volunteers,and 3 mL venous blood was taken at same time.The percentages of mast cells and degranulated mast cells were calculated after the specimens were stained by toluidine blue.The serum specific IgG antibodies of 14 food allergies were detected by enzyme-linked immunosorbent assay.Two-sample comparison was performed by t test,LSD-t-test for groups' comparison,chi-square or Fisher’s exact test for rates comparison and Pearson linear correlation for correlation analysis.Results The number of mast cells in duodenal and descending part of duodenum of FD group,PDS group and EPS group was significantly higher than that of control group and the differences were statistically significant (duodenal:t =3.387,3.536 and 3.510; descending part of duodenum:t=5.810,4.400 and 3.813; all P＜0.01).In duodenal and descending part of duodenum,the percentages of degranulated mast cells in all mast cells of FD [(60.23± 5.10)％ and (66.97±5.30)％],PDS [(59.84±4.50)％ and (66.63±5.37) ％] and EPS [(60.58±5.66) ％ and (67.28±5.32) ％] were all higher than those of control group [(25.38 ± 2.32％) and (30.66 ±2.89)％],and the differences were statistically significant (duodenal:t=33.639,25.496 and 26.563; descending part of duodenum:t=32.513,30.521 and 31.612; all P＜0.05).There was no correlation between the number of mast cells,percentage of degranulated mast cells in duodenal or descending part of duodenum and the scores of symptoms (all P＞0.05).In PDS group,the rates of positive specific IgG antibodies of beef,crab,shrimp,wheat and chicken were significantly higher than those of control group,and the differences were statistically significant (beef x2=12.108,crab x2=17.771,shrimp x2=6.832 and wheat x2=4.375,chicken (Fisher’s exact test); all P＜0.05).In EPS group,the rates of positive specific IgG antibodies of beef,soy and chicken were significantly higher than those of control group,and the differences were statistically significant (beef x2 =8.915,soy x2 =18.600,chicken (Fisher' s exact test) ; all P ＜0.01).The scores of positive specific IgG antibodies of food allergies and types of FD,PDS and EPS were significantly higher than those of control group,and the differences were statistically significant (the score of positive IgG:t=14.988,4.062 and 3.693; the positive type of IgG:t=8.805,4.177 and 3.388; all P＜0.01).The scores of positive specific IgG antibodies of food allergies and types were positively correlated with the number of mast cells and the percentage of degranulated mast cells in duodenal part of duodenum (the score of positive IgG:r=0.247 and 0.307,the positive type of IgG:r=0.243 and 0.326; all P＜0.05).Conclusion The specific IgG antibody of food allergies might play a role in the pathogenesis of FD through inducing an increase in the number of mast cells and the percentage of degranulated mast cells in duodenal mucosa.

Reoperation for local recurrence after resection of rectal carcinoma(a report of 25 cases) / 中国普通外科杂志

Objective　To explore the factors related to local recurrence after resection of rectal carcinoma and the significance of reoperation. Methods　A retrospective analysis was made on the clinical date of 25 cases who had local recurrence after resection of rectal carcinoma. Results　The primary operation revealed that 19 cases were in Dukes stage B,15 in stage C.8 cases were low-differentiated adenocarcinoma,2 adenocarcinoma and 3 malignant chang of villous adenoma. The distal incision margin from the tunor was <3 cm in 16 cases, >3cm in 9. Radical operation was performed in 12 cases, palliative opration in 9; and non-resection procedure was made in 4. The median survival time in radical operation group was 30 months, in palliative opration group 12 months, and in non-resection group 2.3 months. 5-year survival rate in reopration patients was 21.7%. Conclusions　Local recurrence after resection of rectal carcinoma is closely related to the Duckes' classification, histological type of tumor, and selection of operation.Active surgical intervention is indicated for local recurrence after resection of rectal carcinoma which can prolong the patient's survival time.