OBJECTIVE: To report on a case of Smith-Magenis syndrome (SMS) due to a rare small-scale deletion. METHODS: Muscle samples from the the third fetus was collected after the in Medical history and clinical data of the patient were collected. The child and his parents were subjected to chromosome karyotyping analysis, multiplex ligation-dependent probe amplification (MLPA) and copy number variation sequencing (CNV-seq). RESULTS: The child was found to have a normal karyotype. MLPA and CNV-seq detection showed that he has harbored a 1.22 Mb deletion and a 0.3 Mb duplication in the 17p11.2 region. Neither of his parents was found to have similar deletion or duplication. CONCLUSION The child was diagnosed with SMS due to a rare 1.22 Mb deletion in the 17p11.2 region, which is among the smallest deletions associated with this syndrome.
Abnormalities, Multiple/genetics* ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; DNA Copy Number Variations ; Humans ; Intellectual Disability/genetics* ; Male ; Smith-Magenis Syndrome/genetics*

Objective:To explore the experience of the treatment of patella inferior pole fracture with non excitation tension band technique.Methods:From April 2009 to December 2019, 76 patients with inferior patellar fracture were treated with non excitation tension band technique. There were 42 males and 34 females; The age was 35.48 ± 18.12 years (17-66 years), with an average of 35 years. There were 45 cases on the left and 31 cases on the right. Causes of injury: fall injury in 46 cases, bicycle injury in 16 cases and traffic accident injury in 14 cases. The time from injury to operation was 0.25-5 d, with an average of 3.2 d. There were 18 cases of open fractures, 64 cases of articular surface fractures and 52 cases of comminuted fractures. Open fracture patients were debridement first, and all cases were fixed with non excitation tension band technique. The intraoperative fracture reduction, postoperative fracture healing and internal fixation were observed. The knee function was evaluated according to the degree of claudication, the use of supports, the feeling of joint strangulation, joint instability, pain, swelling, stair climbing and squatting.Results:All 76 patients successfully completed the operation and were followed up for 18.24 ± 6.18 months (range 12-24 months). There was no wire fracture during and after operation. All incisions healed in the first stage after operation, and there was no deep venous thrombosis of lower limbs. The X-ray film showed that there was no further fracture and fracture displacement after operation, and there was no Kirschner wire slip before the internal fixation was taken out. Only one case had steel wire relaxation due to buckle (which did not affect fracture healing). All fractures healed well, with an average of 7.5 weeks, and the fracture line basically disappeared. 12 months after operation, according to Lysholm knee score standard, the knee function of patients was evaluated. The score of 76 cases was 95.40±4.60 points (range 82-100 points): excellent in 54 cases, good in 21 cases and fair in 1 case. The excellent and good rate was 98.7%. According to the visual analogue scale (VAS) pain score standard, the patients were scored for postoperative pain. The score of 76 cases was 0.09±2.05 points (range 0-3 points): 4 cases had mild pain, with an average score of 0.09.Conclusion:The results of the treatment of patellar inferior pole fracture with tension free band technique are satisfactory, the pain caused by tissue irritation by the internal fixation was lower, clinical application can be popularized.

White matter lesion (WML) can lead to decreased cognitive ability ,postural balance disorder and abnor‐mal emotion etc .,which affects quality of life and is closely related to treatment of stroke .In recent years ,roles of vessel‐related risk factors and atherosclerosis in WML received considerable attention .The present article made a re‐view on it ,aiming at providing thinking for prevention and treatment of WML .

Objective To investigate the effect of single nucleotide polymorphisms (SNPs) of zinc finger protein (ZNF) 512B gene on the prognosis of the patients with amyotrophic lateral sclerosis (ALS).Methods From September 2012 to June 2015,47 ALS patients were admitted to The Second Affiliated Hospital to Harbin Medical University.Gene sequencing techniques were used to detect the SNPs of gene risk fragments after the peripheral blood DNA was extracted from the patients.All the patients received clinical follow-up and regular assessment to record their survival time and disease progress.The survival curves of the patients with different alleles were plotted by Prism 5.0 and the factors affecting their prognosis were analyzed by Cox regression analysis.Results The fragment rs2275294 in ZNF512B gene was related to the clinical prognosis of ALS,involving 3 genotypes:CC,TT and CT.C was identified as the risk allele.The survival rate for the patients with the risk allele (types CC + CT) was significantly lower than that for those without the risk allele (type TT) (P=0.039).There was no statistically significant difference in the survival rate between CC and CT patients (P=0.376).Risk allele,age of onset,location of onset and duration trom onset to diagnosis were independent factors that might affect the prognosis of the ALS patients.Conclusion The SNPs of the risk fragment rs2275294 in ZNF512B gene is significant in evaluation of the prognosis of ALS patients.

OBJECTIVE:To provide reference for improving the quality of talent training for medical direction of chain man-agement major in higher vocational college. METHODS:The situation of pharmaceutical retail chain industry market was analyzed in China;the problems of talent training mode were summarized to put forward reform plan and measures according to disadvantag-es. RESULTS:Based on the market situation as continues expansion of pharmaceutical retail chain industry market scale,shortage of professional talent pool,the formulation of new retail mode in China,and training mode situation as not enough in-depth cooper-ation between college and enterprise,poor practicality and pertinence of course setting,irrational teachers'structure,teaching re-form could be conducted on the basis of modern apprenticeship system in following aspects,such as college and enterprise shared the responsibility of training and cultivating,student admission is recruitment;college and enterprise designed curriculum system and assessed students together;double tutorteam of college teacher and enterprise teacher was constructed. CONCLUSIONS:The talent training mode based on modern apprenticeship system is the entry point for teaching reform of medical direction of chain management major in higher vocational college,which is conducive to cultivate high quality pharmaceutical management talents meeting industry needs and social development.

In October 2016, the CPC Central Committee and State Council issued the outline of Healthy China 2030 Plan and put forward two main principles, namely integrating health into all policies (HiAP), and adhering to co-construction and co-sharing and mobilizing the whole society to participate.Based on this view, after analyzing the main contradictions in the social governance of China's health field, this paper points out that the synergistic design of social governance and the common governance by the whole society are the key issues to the implementation of China's health policy.This paper attempts to build a health-centered social governance mechanism that puts forward the focus on opening up the channels for citizens to participate in health policy, the formation of a unified health common value, the in-depth exploration of establishing community health services model that integrates medical resources with pension resources together to participate in the building of healthy China.

Objective Toinvestigateantimicrobialresistanceamonggram-positivecocciinChinain 2013.Methods Retrospectivestudy.FromJune2013toDecember2013,1663consecutiveandnon-repetitive gram-positive cocci were collected from 15 teaching hospitals. The minimal inhibitory concentration ( MIC) of antibacterial agents was determined by agar dilution method. A retrospective study was conducted on rates of resistance to antimicrobial agents. The prevalence of penicillin-resistant Streptococcus pneumoniae ( PRSP) between children and adult patients and the prevalence of methicillin-resistant Staphylococcus aureus (MRSA) between elder group and younger adult patients were compared using chi-square test. Results The prevalence of PRSP in children below 3 years old ( 72. 9%, 51/70 ) was higher than adult patients (55. 2%, 106/192) (χ2 =6. 653,P<0. 05). About 94. 9%(261/275) and (92. 7%,255/275) of S. pneumonia were resistant to erythromycin and clindamycin. All S. pneumoniae strains were susceptible to teicoplanin, vancomycin, linezolid, tigecycline and daptomycin. Penicillin still showed very high activity against Streptococcus spp. β-Hemolytic group. More than 60% of Streptococcus spp.β-Hemolytic group were resistant to erythromycin, clindamycin and tetracyclines. The prevalence of MRSA and methicillin-resistant coagulase-negative Staphylococci(MRCoNS) was 39. 7%(229/576) and 80. 6%(224/278), respectively. The MRSA prevalence ranged from 24. 2% to 70. 0% in different regions. About 52. 6%( 100/190 ) of Staphylococcus aureus from respiratory tract specimens, 38. 5%(40/104)of Staphylococcus aureus from blood samples, and 29. 7%(58/195) of Staphylococcus aureus from wound and pus were resistant to methicillin. The prevalence of MRSA in elder group ( 48. 6%, 84/173 ) was higher than that in younger adult patients (35. 7%, 144/403)(χ2 =8. 322,P <0. 05). The susceptibility rates of MRSA to chloramphenicol and trimethoprim/sulfamethoxazole were 86. 4% ( 244/228 ) and 94. 7% ( 237/228 ) , respectively. Susceptibility rates to gentamycin, erythromycin, clindamycin, tetracyclines, rifampicin and quinolones were ranged from 15. 8% to 59. 6%. All Staphylococci isolates were susceptible to teicoplanin, vancomycin, linezolid, daptomycin and tigecycline. All Enterococcus isolates were susceptible to daptomycin and tigecycline. All E. faecalis ( 158/158 ) and 96. 4% ( 133/138 ) of E. faecium were susceptible to teicoplanin. About 98. 0% ( 150/153 ) of E. faecalis and 97. 1% ( 145/138 ) of E. faecium were susceptible to linezoild. About 45. 8% (70/153) of E. faecalis and 60. 9% (84/138) of E. faecium were resistant to gentamycin with a high concentration. The susceptibility of E. faecalis to all the antibiotics tested exceptchloramphenicolandtetracyclinewashigherthanthatofE.faecium.Conclusions Basedon different age groups and regions, the resistance rates of Gram-positive cocci are different. Teicoplanin, vancomycin, tigecycline, daptomycin, linezolid and tedizolid showed very high activity against Gram-positive cocci. (Chin J Lab Med,2015,38:373-381)

OBJECTIVETo study the expression level of folate receptor α (FR-α) in glioma tissue and its clinical significance.

METHODSForty-eight human glioma specimens were collected from patients who underwent surgery from March 2012 to March 2013. These specimens were as follows:12 cases of glioblastoma (WHO IV), 6 cases of astrocytoma of each malignancy grade(WHO II, III), 6 cases of oligodendroastrocytoma of each malignancy grade (WHO II, III), 6 cases of oligodendroglioma of each malignancy grade (WHO II, III ). In addition, 6 cases of normal brain tissue resected from brain traumatic patients were taken as negative control, and one case of placental tissue (had got the consent of the parents and their families) was taken as positive control. The expression level of FR-α in tumor tissues was evaluated by Western blot analysis. The results of Western blot analysis were analyzed by t-test. The expression level of FR-α and Ki-67 in tumor tissues was evaluated immunohistochemistry, the results were analyzed by Kruskal-Wallis test and Nemenyi test. The correlation between the expression level of FR-α and cell proliferation index Ki-67 was analyzed by Pearson correlation analysis.

RESULTSWestern blot analysis showed that the FR-α was not expressed in normal brain tissue and oligodendroglioma tissue, but highly expressed in astrocytoma, oligodendroastrocytoma and gliomablastoma. The expression level in WHO III astrocytoma was significantly higher than in WHO II (t = 4.497, P < 0.05). FR-α was also highly expressed in oligodendroastrocytoma and its expression level in WHO III was also significantly higher than in the WHO II (t = 2.876, P < 0.05). Foremore, immunohistochemistry analysis also showed that FR-α was not expressed in oligodendroglioma, but expressed in astrocytoma, oligodendroastrocytoma and gliomablastoma. The positive rate of FR-α of WHO III was significantly higher than the WHO II astrocytoma(57.8% ± 2.2% vs. 45.7% ± 2.3%,χ(2) = 3.871, P = 0.034). In oligodendroastrocytoma, the positive rate of FR-α of WHO III was significantly higher than the WHO II(56.5% ± 5.4% vs. 37.1% ± 5.2%,χ(2) = 4.454, P = 0.021). Moreover, the expression level of FR-α in gliomablastoma was highest in all histological types of gliomas, the positive rate of FR-α was up to 65.0% ± 4.5%. Pearson correlation analysis showed that the positive rate of FR-α was positively correlated with Ki-67 index (r = 0.903, P < 0.05).

CONCLUSIONSFR-α is expressed in astrocytoma, oligodendroastrocytoma and glioblastoma, and the expression level of FR-α is positively correlated with malignancy grade and Ki-67 index. Therefore, FR-α may be applied as a special target for diagnosis and treatment of glioma.

Adolescent ; Adult ; Biomarkers, Tumor ; metabolism ; Brain Neoplasms ; metabolism ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Folate Receptor 1 ; metabolism ; Glioma ; metabolism ; Humans ; Infant ; Ki-67 Antigen ; metabolism ; Male ; Middle Aged ; Young Adult

BACKGROUNDThe advent of brain stimulation techniques to treat movement disorders and psychiatric diseases has shown potential to decode the neural mechanism that underlies the cognitive process by modulating the interrupted circuit. Here, the present investigation aimed at evaluating the influence of deep brain stimulation of the anterior nucleus thalamus (ANT-DBS) on memory.

METHODSThirty-two rats were randomized into phosphate buffer saline (PBS) group (n = 8, rats received PBS injections without implantation of electrodes into the ANT), Alzheimer's dementia (AD) group (n = 8, rats received Aβ1-40 injections without implantation of electrodes into the ANT), ANT sham stimulation group (n = 8, rats received Aβ1-40 injections with implantation of electrodes into the ANT but without stimulation) and ANT stimulation group (n = 8, rats received Aβ1-40 injections with implantation of electrodes into the ANT and stimulation). A Morris maze test was used for determining the effect of electrical stimulation on cognitive function in rats. The data were assessed statistically with one-way analysis of variance (ANOVA) followed by Tukey's tests for multiple post hoc comparisons.

RESULTSThe data showed that in the training test, PBS group and AD group managed to learn the hidden-platform faster and faster while AD group needed a significantly longer time to reach the platform than PBS group (P < 0.05). Meanwhile, ANT stimulation group demonstrated a significantly shorter time to reach the platform (P < 0.05) compared to the AD group, while there was no significant difference between the ANT sham stimulation group and the AD group (P > 0.05). On the probe test, the AD group spent less time ((10.15 ± 2.34) seconds) in the target quadrant than the PBS group ((28.20 ± 2.75) seconds) (P < 0.05). And the times of platform-traversing of the AD group (3.35 ± 1.12) significantly decreased compared with the PBS group (8.69 ± 2.87) (P < 0.05). However, the times of platform-traversing and the time spent in the target quadrant of the ANT stimulation group significantly increased compared to the AD group (P < 0.05), while times of platform-traversing or the time spent in the target quadrant was not significantly different between the ANT sham stimulation group and the AD group (P > 0.05).

CONCLUSIONBilateral high-frequency stimulation of the ANT may be useful as a potential therapeutic modality for cognitive dysfunction in AD.

Amyloid beta-Peptides ; administration & dosage ; toxicity ; Animals ; Anterior Thalamic Nuclei ; drug effects ; Cognition ; drug effects ; Cognition Disorders ; chemically induced ; therapy ; Deep Brain Stimulation ; methods ; Hippocampus ; drug effects ; Male ; Peptide Fragments ; administration & dosage ; toxicity ; Rats ; Rats, Sprague-Dawley

Objective Toinvestigatethecorrelationsofthelevelsofplasmasolublereceptorfor advanced glycation end product (sRAGE )with the National Institutes of Health Stroke Scale (NIHSS ), grade of white matter lesions,and risk factors for cerebral vascular disease in patients with acute cerebral infarction.Methods Atotalof120patientswithacutecerebralinfarctionwereenrolledretrospectively. They all underwent head MRI. The plasma sRAGE levels of the acute cerebral infarction group and 120 healthy subjects were detected with enzyme-linked immunosorbent assay (ELISA)and were compared. According to the interquartile range (P25 =540 ng/L,P50 =1030 ng/L,P75 =1400 ng/L ),the plasma sRAGE levels were divided into 4 quartiles (Q1 to Q4). Q1:sRAGE<540 ng/L (n=29),Q2:540 ng/L≤sRAGE≤1030 ng/L (n=31),Q3:1030 ng/L < sRAGE≤1400 ng/L (n =30),and Q4:sRAGE >1400 ng/L (n =30 ). The plasma sRAGE levels in the acute cerebral infarction group and the healthy control group were compared using the Wilcoxon rank sum test. Multiple linear regression analysis was used to analyze the correlations of the sRAGE levels with NIHSS scores,grade of cerebral white matter lesions,and cerebrovascular risk factors. Results (1 )The median level of plasma sRAGE was 870 (540.0,1403. 8)ng/L in the acute cerebral infarction group,which was lower than 1032 (727. 5,1721. 5) ng/L in the healthy control group. There was significant difference (P<0. 05). (2)Single factor analysis showed that the smoking rate,NIHSS scores,the types of deep white matter hyperintensity (DWMH),and the estimated glomerular filtration rate(eGFR)among Q1,Q2,Q3 and Q4 quartiles were significant different (all P<0.05). The smoking rate,ratio of patients with high NIHSS score,incidence of severe DWMH and percentage of the patients with normal eGFR in Q1 (n=29)were 62. 1%(n=18), 44. 8%(n=13),55.2%(n=16)and 51. 7%(n=15),respectively,and they had a higher trend than other quartiles. (3)Multiple linear regression analysis showed that the smoking,NIHSS score,eGFR,and severity of DWMH were the influence factors of the levels of plasma sRAGE in patients with acute cerebral infarction.Thereweresignificantdifferences(allP<0.05).Conclusion Theexpressionlevelsofthe plasma sRAGE in patients with acute cerebral infarction group is significantly lower than those in the healthy subjects,and smoking,neurological defect,eGFR,and severity of DWMH are associated the low level of sRAGE. sRAGE may be used as a reference index for predicting the conditions of acute cerebral infarction.