OBJECTIVE: To analyze the clinical phenotype and variant of SLC2A1 gene in a Chinese pedigree affected with glucose transporter type 1 deficiency syndrome (GLUT1-DS). METHODS: Clinical data of a child who was treated due to delayed motor and language development and his family members were collected. DNA was extracted from peripheral blood samples and subjected to high-throughput medical exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and sister. The genotype-phenotype correlation was explored. RESULTS: The child, his mother and sister had common manifestations such as delayed mental and motor development, poor exercise tolerance, easy fatigue and paroxysmal dystonia, but the difference was that the child and his mother had microcephaly and seizures, while his sister did not. A heterozygous missense SLC2A1 c.191T>C (p.L64P) variant was identified in all affected members, which was unreported previously. CONCLUSION The missense SLC2A1 c.191T>C (p.L64P) variant probably underlay the disease in the proband and his mother and sister. Variability of the clinical phenotypes has reflected the genetic and phenotypic diversity of GLUT1-DS. Detection of the novel variant has enriched the spectrum of GLUT1-DS mutations.
Carbohydrate Metabolism, Inborn Errors ; China ; Glucose Transporter Type 1/genetics* ; Humans ; Monosaccharide Transport Proteins/deficiency* ; Mutation ; Pedigree ; Phenotype

【Objective】 To analyze the related factors and countermeasures of adverse reactions to whole blood donation(ARBD) for medical student donors, so as to further reduce the incidence of ARBD. 【Methods】 The demographic data of medical/non-medical student donors and those suffered from ARBD from 2016 to 2018 were retrospectively analyzed, and the relationship between ARBD and age, gender, frequency of blood donation, blood volume, blood type, pulse, ALT, blood pressure, hemoglobin, etc. was statistically analyzed. 【Results】 The incidence of ARBD in all medical student donors from 2016 to 2018 was 1.16%, lower than that of non-medical students (1.51%). The ARBD rate(2.30%) of senior medical students (> 20 years old) was significantly lower than that of non-medical students (3.93%) and higher than that of junior medical students (≤20 years old)(0.70%). The ARBD rate of novel medical student donors was 1.27%, lower than that of novel non-medical students (2.12%) (P<0.05). Male medical students(1.68%) were more likely to develop ARBD than females(0.78%), donations within 200 mL(55%) than 300mL(0.26%) and 400mL(0), Hb<120 g/L(13.04%) than Hb≥120 g / L( 1.10% ), and blood type A(1.70%) than type O (0.88%) (P<0.05). Logistic regression analysis showed that blood volume and blood type were related factors. ARBD was more likely to occur in Type A blood than type O, and was more likely to occur when blood volume was lower. ARBD occurred frequently during phlebotomy, due to mental stress(75%) and hunger(8.92%)(P<0.05), while 96.43% of ARBD could recover within 10 minutes. 【Conclusion】 Novel, male, older than 20 years, Hb<120 g / L, blood type A and donation unit ≤200 mL were main risks for ARBD in medical student donors. Popularizing the knowledge of voluntary blood donation and strengthening pre-donation communication are important measures to prevent ARBD.

Objective: To investigate the effect and safety of intensive hyperthermia combined with low-dose cisplatin plus radiotherapy in the treatment of patients with locally advanced NSCLC. Methods: From January 2012 to December 2015, 104 patients with locally advanced NSCLC were chosen in the Second People's Hospital of Weifang and randomly divided into two groups according to the digital table, with 52 patients in each group.The control group was given low-dose cisplatin plus radiotherapy, and the observation group was given intensive hyperthermia on the basis of control group.The ORR, DCR, median OS, median PFS, KPS score, the levels of coagulation function index and tumor markers before and after treatment and incidence of side effects in the two groups were compared. Results: The DCR of the observation group was significantly higher than that of the control group(86.54% vs.69.23%, χ²=8.24, P<0.05). The median OS and median PFS of the observation group were significantly longer than those of the control group(11.9 months vs.8.3 months; 7.5 months vs.4.7 months, t=2.56, 3.01, P<0.05). The KPS scores after treatment of the observation group were significantly higher than those of the control group and before treatment[(75.49±8.94)points vs.(68.65±7.06)points; (75.49±8.94)points vs.(62.23±6.34)points, t=2.78, 5.11, all P<0.05]. The levels of coagulation function index and tumor markers after treatment of the observation group were significantly lower than those of the control group and before treatment(t=3.14, 2.67, 3.59, 7.31; 4.89, 4.02, 4.70, 9.21; 2.44, 2.60, 3.20; 3.15, 3.78, 4.06; all P<0.05). There was no statistically significant difference in the incidence of side effects between the two groups(P>0.05). Conclusion Intensive hyperthermia combined with low-dose cisplatin plus radiotherapy in the treatment of patients with locally advanced NSCLC can efficiently control disease progress, increase survival benefits, higher quality of life, improve coagulation function, reduce the levels of tumor markers and possess satisfactory safety.

Objective To explore the advantages and characteristics of pathology experimental teaching based on WeChat public platform. Method Through the establishment ofhomogeneous pathol-ogy experiment platform—WeChat public platform, the students of clinical medicine major of Class 1 and 2 of Grade 2014 who participated in the pathological experiment course were divided into two groups. The experimental group (65 people) used the auxiliary teaching based on the WeChat public platform, and the control group (65 people) used the traditional teaching method. The students in the experimental group used the WeChat public platform in combination with pathology experimental teaching, pushing the experimental teaching by WeChat public platform, including the change of specimen and eye diseases under the micro-scope of typical pictures and videos, and at the same time pushing the typical disease image and the related text introduction, and auxiliary pathology experimental teaching. The effect of teaching was evaluated by student experimental examination and electronic questionnaire. The data were collated after the entry of SPSS 19.0, and the data comparison was performed by t test. Result The average score of the experimental group (14.80±0.24) was significantly higher than that of the traditional teaching group (13.79±0.33), and the difference was statistically significant (P=0.031). The experimental group students' evaluation on the learning of WeChat based public platform was higher than the control group's evaluation on traditional teaching in the aspects of learning interest, reducing learning pressure and feedback. Conclusion The application of WeChat public platform for the teaching of pathological experiments is feasible compared with the traditional teaching model and can improve the teaching effect effectively, and solve the problems of the pathology experiment teaching sample being insufficient or the teaching sample being not typical, which creates conditions for students to study independently and use specimens and pictures.

Objective: To explore the related factors for primary hepatic carcinoma (PHC) caused by chronic hepatitis B (CHB) and hepatitis C (CHC). Methods: According to the principle of cross-sectional study, a cluster random sample method was used, a total of 366 chronic hepatitis patients in hospitals were recruited from three provincial tertiary hospitals in Shanxi, Henan and Jilin between July 2016 and October 2016, respectively. Using a self-designed unified questionnaire, face-to-face interviews was conducted on subjects, including sex, age, alcohol consumption, coffee consumption, green tea consumption, fish consumption, smoking, HBV/HCV diagnosis and treatment, diabetes mellitus, family history of PHC (whether PHC in first-degree relatives), etc. Multivariate unconditional logistic regression were performed to identify the related factors for PHC with CHB and CHC. According to the clinical diagnosis the patients were divided into a chronic hepatitis group (not developing to PHC) and a PHC group. Results: Among 366 cases patients, 287 (78.4%) cases were male, 79 cases were female (21.6%), average age was (52.7±9.3) years. 202 cases were chronic hepatitis group, 164 cases were PHC group. Multivariate unconditional logistics regression analysis indicated that alcohol consumption (odds ratio (OR)=2.11, 95%CI: 1.18-3.75), family history of PHC (OR=5.12, 95%CI: 2.60-10.08) were positively correlated with the development of PHC in chronic b, green tea consumption (OR=0.45, 95%CI: 0.23-0.88), antiviral treatment (OR=0.19, 95%CI: 0.11-0.32) were negatively correlated. Alcohol consumption (OR=3.98, 95%CI: 1.14-13.85) was positively correlated with the development of PHC in chronic c, antiviral treatment (OR=0.14, 95%CI: 0.04-0.50) was negatively correlated. Conclusion Alcohol consumption, family history of PHC, green tea consumption and antiviral treatment were the related factors for the development of PHC in chronic hepatitis b. Alcohol consumption and antiviral treatment were the related factors for the development of PHC in chronic hepatitis c.

Objective In order to measure the nursing unit workload scientifically,we used the Delphi method to investigate the influencing factors of nursing unit workload.Methods After consulting literature and discussing with experts,alternative indicators were designed,then two rounds of consultations were made with experts by using the Delphi method.Results The questionnaires revealed that the valid recovery rate,after two rounds of consultations,were 95％ and 100％ respectively,which reflected the positivity of the experts which participated in this study.The expert authority coefficient was 0.896,which indicated the high reliability of the consulting.The coordination indexes of expert opinions were 0.467 and 0.239 respectively,which showed the expert advices had good coordination and the results had high reliability.Conclusions The influencing factors of nursing unit workload determined by Delphi method have high reliability,which is significant for the scientific measuring of the nursing unit workload.

ObjectiveThe aim in this study was to evaluate the efficacy of the ball tip probe technique in placing pedicle screws in patients.MethodsFrom May 2009 to June 2010,we used ball tip probe technique in pedicle screw placement in patients with scoliosis,spondylolisthesis,spinal fractures and other diseases.The ball tip probe consisted of a metal shaft with a metal ball-shaped tip whose size included 1.5,2.5,3.0,3.5 mm in diameter.The ball tip probe with a diameter of 1.5mm owned a high rigidity and certain flexibility.Ball tip probe technique:A high speed bur was used to remove cortical bone and create a starting point,and then the ball tip probes is tapped gently by a hammer for making a guide hole through the pedicle into the vertebral body.The accuracy of the pedicle screw placements was evaluated on postoperative axial CT scanning The pedicle screw placements was compared between the the ball tip probe group and conventional freehand technique group.ResultsThree hundred and twelve screws were evaluated in the ball tip group and 276 in the conventional freehand group.All the screws (100％) were in the desired pedicle in the ball tip group and 215 (78％) in the conventional group.In the conventional group,23 screws(8.3％) were classified as medial violation; 38(13.7％) as lateral violation.A significant difference was determined between the 2 groups regarding the pedicle breaches.No vascular,pulmonary,or neurological injuries caused by pedicle screws placement was found in either group.ConclusionThis study demonstrates the accuracy and reliability of the ball tip probe technique in pedicle screw placement.This technique can probably reduce the risk of complications of screw misplacements.

BACKGROUND: Posterior lumbar non-fusion devices have been developed to control vertebral column movement, change load pattern of instability segment, restrict abnormal action, as well as avoid adjacent segment degeneration.OBJECTIVE: To investigate the efficiency of Wallis dynamic stabilization system in the treatment of lumbar vertebrae instability.METHODS: Ten cases suffering from lumbar instability were selected, including 3 males and 7 females, aged 43-65 years. One patient sustained L_(1/2) and L_(4/5) segmental instability, one was L_(2/3) and another was L_(3/4), and the others were L_(4/5). Two patients complicated with lumbar disc herniation and 7 patients combined with lumbar spinal stenosis at the same affected segment, and 3 patients associated with lumbar spinal stenosis at adjacent segment. All unstable segments were treated with decompression, posterior implantation of Wallis dynamic stabilization system. Visual analogue scale (VAS) and Japanese Orthopedic Association (JOA) scores for low back pain and Oswestry disability index (ODI) were used to evaluate clinical outcomes. In addition, therange of motion (ROM) at the instrumented segment and adjacent segments and posterior disc height (PDH) in standing and extension position at L_(4/5) segment were also measured.RESULTS AND CONCLUSION: All the patients were followed-up for 2-13 months, mean 9.2 months. The mean operation duration was 128 minutes (90-185 minutes), with bleeding volume of 264 Ml (50-600 Ml). Sings and symptoms of all patients were improved significantly after operation, except one patient with recurrence of L_(4/5) lumbar spinal stenosis at 3 month after surgery, whose symptoms relieved by revision with fenestration and decompression. The postoperative VAS was dramatically decreased than that of preoperation (P=0.003); the JOA score was obviously increased (P=0.002), and the ODI score was decreased (p=0.008). The postoperative range of motion decreased significantly (P<0.05). However, there was no obviously difference between preoperative and postoperative L_(3/4), L_5/S_1 and posterior disc height (P>0.05). Good clinical results can be achieved by surgical intervention with Wallis dynamic stabilization system in treating lumbar vertebrae instability.

BACKGROUND:Hydroxyapatite (HA) artificial bone,as bone grafting substitute,would not cause inflammatory reaction or immunological rejection and possesses good biocompatibility after transplantation into human body.It is a novel implant material with bone conduction ability.OBJECTIVE:To investigate the efficacy of HA artificial bone in bilateral open-door posterior cervical expansive laminoplasty and to make a comparison with autogenous bone.DESIGN,TIME AND SETFING:A retrospective case analysis was performed at the Department of Spine Surgery,Hungpuyuan Branch,the First Affiliated Hospital of Sun Yat-sen University from March 2001 to December 2008.PARTICIPANTS:Seventy patients with cervical spondylosis complicated by compression in 3 or more segments or by cervical stenosis and additional fifteen patients with cervical stenosis complicated by cervical trauma were included in this study.METHODS:A bilateral open-door posterior cervical expansive laminoplasty was performed,in which,23 patients received autogenous bone transplantation (autogenous bone group) and 62 patients underwent HA artificial bone transplantation (HA group).MAIN OUTCOME MEASURES:① Japanese Orthopaedic Association (JOA) score pdor to and after surgery,surgery time,and intraoperative bleeding.② HA artificial bone-host biocompatibility.RESULTS:All eighty-five patients were followed up for more than 3 months.There was no significant difference in JOA scores no matter prior to or after surgery between the autogenous bone and HA groups (P＞0.05).The surgery time averaged 85.2 minutes (range 65-110 minutes) in the HA group and averaged 116.4 minutes (range 75-150 minutes) in the autogenous bone group.The intraoperative bleeding averaged 210 mL (range 130-400 mL) in the HA group and averaged 260 mL (range 170-500 mL) in the autogenous bone group.There were no material-host response and other severe complications found in each group,except HA artificial bone fragmentation in 3 patients from the HA group.CONCLUSION:HA artificial bone yields good efficacy and causes fewer complications in bilateral open-door posterior cervical expansive laminoplasty;in addition,it requires less time for surgery and causes less bleeding.

BACKGROUND:Antedor canulated screw has been considered an ideal method to treat odontoid fracture.OBJECTIVE:To compare the biomechanical properties of different anterior screws.DESIGN,TIME AND SETTING:A randomized contrast study was performed at the Biomechanics Laboratory of Southern Medical University from March to September 2006.MATERIALS:Double-thread canulated screws and single-thread canulated screws were made of titanium alloy and provided by Shuangyang Medical Apparatus Co.,Ltd.,Suzhou.METHODS:A total of head-neck complexes (C0-C3) which were collected from 20 corpses were maintained in formaldehyde for less than 3 months;thereafter,the muscles and ligaments were removed to obtain the axis specimens so as to make type Ⅱ odontoid fracture models.The fracture samples were individually treated with double-thread and single-thread canulated screws,with 10 samples for each group.MAIN OUTCOME MEASURES:The shear stiffness and the maximum resistance of the two kinds of screw were tested in this study.RESULTS:The shear stiffness of the double-thread screw group was significantly higher than the single-thread screw group (P＜0.01 );however,there was no significant different in the maximum resistance between the two groups (P＞0.05).CONCLUSION:Double-thread canulated screws have a strong biomechanical stability for treating odontoid fracture;therefore,the first choice of the internal fixation should be double-thread canuiated screws for patients with osteoporosis or those who are susceptible to expanded screw pathway during surgical procedures.