We reported a case of microcephaly-capillary malformation(MIC-CAP)caused by STAMBP gene variant,in order to improve the clinical diagnosis and treatment.The patient is a 3-month-old male with recurrent convulsions and the main clinical manifestations are multiple forms of seizures,microcephaly,multiple small capillary malformations in the skin,and generalized hypotonia.The genetic test showed that a heterozygous variant in the STAMBP gene was present in the child.Both parents were heterozygous carriers.He was administrated various anti-seizure medications and ketogenic diet,but still had frequent seizures.He then underwent corpus callosotomy,and was followed up until he was 4 years and 10 months old.The post operational outcome was grade IV on Engel's classification.Based on the clinical data of 22 patients in literature,in addition to severe psychomotor retardation,microcephaly,and cutaneous capillary malformations,early-onset drug-refractory epilepsy is also a major feature of MIC-CAP syndrome,which is clinically rare and has a poor prognosis;Callosotomy may help to reduce seizures in the short term.However,the long-term outcome is poor.STAMBP gene is the main responsible gene for this syndrome.

Objective: To investigate the efficacy and safety of ketogenic diet (KD) and antiepileptic drugs(AEDs) in the children with drug refractory Dravet syndrome (DS). Methods: Thirty-two cases of drug refractory DS were enrolled into the Department of Neurology, Shenzhen Children′s Hospital Affiliated to Shantou University Medical School from July 2016 to December 2017, and they were divided into 2 groups: KD group and AEDs group (16 cases for each group), respectively.KD was added to as an additional therapy for KD group, and oral AEDs were administered only in AEDs group.In KD group, oral AEDs were not adjusted for the first 3 months.AEDs could be adjusted within a limited range in 2 groups after 3 months.The clinical efficacy, improvement of cognitive function, retention rate and side effects were observed and compared after 3, 6, 12 months of treatment.The average monthly seizure frequency within 3 months before enrollment was recorded as the baseline.The clinical efficacy was assessed by comparing the seizure frequency of each observation period with the baseline. Results: In KD group, after 3, 6, 12 months′ follow-up, KD the-rapy was maintained in 15, 14, 12 patients.The number of patients whose seizure reduction over 50% was 10, 12, 11 cases, respectively.The number of patients whose seizure reduction over 90% was 7, 9, 10 cases, respectively.The number of patients who were seizure free was 3, 6, 8 cases, respectively.In AEDs group, after 3, 6, 12 months′ therapy, the number of patients whose seizure reduction over 50% was 6, 7, 8 cases, respectively, the number of patients whose seizure reduction over 90% was 3, 3, 4 cases, respectively.The number of patients who were seizure-free was 2, 1, 2 cases, respectively.There was a significant difference in the seizure reduction between 2 groups after 6, 12 months (P<0.05). Furthermore, the incidence of status epilepticus (SE) was significantly reduced in KD group, and non-fever related status epilepticus (NFSE) was preferentially improved.There was a significant difference in the incidence of SE between before and after treatment in the KD group (P<0.05). After 12 months, there was a significant difference in the incidence of SE between 2 groups (P<0.05). After 6, 12 months of treatment, the patients in KD group had significant improvements in adaption, gross motor and language quotients by Gesell Developmental Scale compared to the AEDs group (all P<0.05). Eleven of 12 children who adhered to the therapy for 1 year in KD group had improvement of developmental quotient ≥ 1 grade, however, 7 cases of 16 children in AEDs group had this improvement.The incidence of adverse effect in the KD group and the AEDs group was 37.5%(6/16 cases) and 56.3%(9/16 cases), respectively, and the difference was not significant (P>0.05). Conclusions KD can not only reduce seizure frequency and relieve SE, but also improve the cognitive function of drug refractory DS.The adverse reaction ratio of KD does not increase significantly compared to AEDs.Therefore, KD is effective and safe therapy for children with drug-resistant DS.

Objective: To investigate the safety of argatroban in vertebral artery stenting and its effect on postoperative restenosis. Methods: From January 2013 to September 2017, patients undergoing vertebral artery stenting in the Department of Neurology, Jinling Hospital were enrolled prospectively. They were divided into agatraban group and heparin group by random number table method. The argatroban group received argatroban anticoagulation during the procedure, and was continuously used for 5 d after procedure; while the heparin group underwent heparin anticoagulation during the procedure, and used saline as placebo after procedure. Clinical follow-up was performed at 1, 3, and 6 months after procedure. Digital subtraction angiography, CT angiography, or magnetic resonance angiography were performed at 6 months to evaluate the restenosis of the treated blood vessels. The primary endpoints included intraoperative safety, in-stent restenosis after procedure, and any clinical events that occurred during the follow-up period, including stroke, cardiovascular events, and death. Major safety events included bleeding from various organs, allergic reactions, liver dysfunction, and embolism events. Kaplan-Meier survival curve was used to evaluate the incidence of vascular events during the follow-up period. Results: A total of 105 patients were enrolled in the analysis, including 53 in the argatroban group and 52 in the heparin group. During the periprocedural period, no hemorrhagic events, allergic reactions, liver dysfunction or embolism events occurred in both groups. There were no significant differences in preoperative vertebral artery stenosis degree, postoperative residual stenosis degree, and stenosis degree at 6 months after procedure between the two groups, but the increase of stent stenosis at 6 months after procedure in the agatroban group was significantly lower than that in the heparin group (13.56%±26.41% vs. 4.25%±15.76%; P=0.031). There was no significant difference in the incidence of stroke recurrence (P=1.000) and clinical events (P=0.739) between the two groups during the long-term follow-up period. Conclusions It is safe to use agatraban anticoagulant therapy in the vertebral artery stenting. Continuous use of agatraban anticoagulation after procedure may effectively reduce the increase of stent stenosis at 6 months after procedure.

Objective: To inrestigate the association between thymidine phosphorylase (TYMP) polymorphisms and efficacy of postop-erative capecitabine-based adjuvant chemotherapy in colorectal cancer (CRC) patients. Methods: Two hundred and thirty-five patients with colorectal cancer who received surgical treatment and adjuvant chemotherapy between January 2010 and December 2016 from People's Hospital of Zhengzhou, were included in this study. Peripheral blood and postoperative tissue specimens of the CRC patients were collected for genotyping polymorphisms and measuring TYMP mRNA expression, respectively. The correlation between the poly-morphisms and efficacy of postoperative chemotherapy in CRC patients was analyzed. Results: The prevalence of 5633C>T in TYMP gene among the CRC patients was as follows: CC genotype, 149 cases (63.40%); CT genotype, 73 cases (31.06%); and TT genotype, 13 cases (5.54%); the minor allele frequency of 5633C>T was 0.21. Survival analysis of the patients revealed that the median overall sur-vival (OS) of patients with the CT/TT genotype and those with the CC genotype was 5.9 and 4.5 years, respectively; the result was sta-tistically significant (P=0.009). Following adjustment in multivariate Cox regression analysis, the CT/TT genotype was found to be an in-dependent favorable factor for OS (HR=0.67, P=0.015). Additionally, of the 87 postoperative tissue specimens, results show that the levels of TYMP mRNA in cancer tissues of patients with the CT/TT genotype were significantly higher than those with the CC genotype (P=0.019). Conclusions: TYMP mRNA expression may be influenced by the 5633C>T polymorphism, making CRC patients benefit from capecitabine treatment.

Objective To explore the role of NT-proBNP in the differentiation of acute pulmonary embolism (APE) from congestive heart failure (CHF) in patients with acute dyspnea.Methods Consecutive 260 patients aged ≥ 60 years complaining of acute dyspnea were collected between June 2010 and October 2015.The patients were divided into two groups of APE and CHF according to their diagnosis standards.The levels of NT-proBNP between the two groups were compared using t test,and receiver operating characteristic curve (ROC curve) was made to show the value of NT-proBNP in differentiation of APE from CHF.Results Patients in APE group had significantly lower median levels of NT-proBNP as compared with patients in CHF group [(2 478.8±1 473.9)ng/L vs.(5 955.4±3 180.1)ng/L,t =-12.020,P ＜ 0.01].The ROC curve of APE existence against serum levels of NT-proBNP showed an optimal cut-point of NT-proBNP of 1 518 ng/L,with specificity up to 98.8％,and the area under the ROC curve for NT-proBNP was 0.877.Conclusions NT-proBNP as a simple and bedside approach to identify APE versus CHF patients with acute dyspnea can help clinicians identify APE early and reduce the rates of misdiagnosis and missed diagnosis of APE.But the confirmative diagnosis of APE is still based on spiral CT angiography.

Objective: To compare blood levels of NT-proBNP and uric acid (UA) in patients with pulmonary thromboembolism (PTE) and chronic heart failure (CHF). Methods: A prospective research was conducted in 288 acute dyspnea patients treated in our hospital from 2010-06 to 2015-05. The patients were divided into 2 groups based on clinical diagnosis: PTE group,n=107 and CHF group, n=181. Blood levels of NT-proBNP and UA were examined in all patients, statistical analysis was performed by SPSS 17.0 software, independent samplet test or variance analysis were used to make comparison between 2 groups. Results: There were more male patients as 64/107 (59.8%) in PTE group and 103/181 (56.9%) in CHF group. Compared with CHF group, PTE group had the lower blood levels of NT-proBNP (2421.7±1678.1) pg/ml vs (6964.3±3873.1) pg/ml and UA (340.6±121.3) μmol/L vs (492.1±166.2) μmol/L, allP<0.01. Conclusion: In our research, blood levels of NT-proBNP and UA were lower in PTE patients than CHF patients; with general background, such phenomenon might be helpful to distinguish PTE and CHF in acute dyspnea patients in clinical practice.

Objective To explore and analyze clinical efficacy and safety of restructuring morphogenesis protein-2 bones(rhBMP-2) combined with nanocrystalline collagen bone material(nHAC) fusion between treating lumbar protrusion of the lumbar spine instability.Methods Ninety cases of patients with lumbar instability syndrome who were treated in the People's Hospital of Heze from March 2013 to May 2013were selected and divided into restructure morphogenesis protein-2 combined with nanocrvstalline bone collagen bone material treatment group,purely in nanocrystalline collagen bone material treatment of the control group according to the random number table method,45 cases in each group.JOA evaluation results,intraoperative blood loss,postoperative infection,pulmonary complications within three months of the two groups were compared.Results The male proportion of experimental group and control group was 46.67％ and 48.89％respectively,the difference was significant(x2 =0.03,P =0.84).The excellent rate ofexperimental group and control group was respectively 93.33％,57.78％,the difference was significant (x2 =5.49,P ＜ 0.05).The incidence of deep vein thrombosis,infection rate,incidence of pulmonary complications of experimental group were 4.44％,8.88％,6.67％,of control group were 13.33％,24.44％,20.00％,the differences were significant (x2=5.12,3.78,3.56;P＜0.05).Conclusion Restructuring morphogenesis protein-2 bones combined with nanocrystalline collagen bone material treating lumbar fusion between the clinical curative effect of treating lumbar instability syndrome is better,with a lower incidence of complications,security is relatively high,compared to traditional surgery method has many advantages,can be used as a kind of ideal method used in the clinical work.

OBJECTIVE: To explore the clinical effects and short-term complications of using free jejunum graft (FJG) to reconstruct the defects by resections of pharyngeal, laryngeal or cervical esophageal cancers. METHOD: Fifty-eight cases of pharyngeal, laryngeal or cervical esophageal cancers were reconstructed with FJG. All cases were analyzed retrospectively. RESULT: The success rate of FJG transplantations was 91.4% (53/58). The incidence of post-operative short-term complication was 43.1% (25/58), which was not related to age or BMI. The most common complication was anastomotic leakage (18.9%), which was not related to per-operative radiation therapy. However, BMI > 25 cases had significantly higher incidence of anastomotic leakage than BMI ≤ 25 cases (P = 0.009). The second and third most common complications were respiratory system complications (10. 3%) and FJG necrosis (8. 6%). Para-operative death rate was 3.4% (2/58). Two-year overall survival rates of hypopharyngeal cancer and cervical esophageal cancer were 49% and 67% respectively. The group with no short-term complications had a slightly better survival rate than the group with short-term complications from the Kaplan-Meier curve, but there was no significant difference (P = 0.103). CONCLUSION FJG is ideal to reconstruct cervical digestive tract circumferential defects with a high success rate and a low mortality. However, the post-operative complication rate is high. Intensive observation, early detection and timely treatment of complications are crucial.
Esophageal Neoplasms ; surgery ; Humans ; Hypopharyngeal Neoplasms ; surgery ; Jejunum ; transplantation ; Laryngeal Neoplasms ; surgery ; Pharyngeal Neoplasms ; surgery ; Postoperative Complications ; Postoperative Period ; Retrospective Studies ; Survival Rate

Objective To investigate the survival status of patients with pharyngeal, laryngeal or cervical esophageal cancers, who received free jejunal flap ( FJF ) to repair the defects following tumor resection, and to analyze the effect of multi?disciplinary treatment on their survival. Methods Fifty?eight patients with pharyngeal, laryngeal or cervical esophageal cancer underwent free jejunal flap ( FJF ) reconstruction after cancer resection between 2010 and 2013. All their clinical records were reviewed and analyzed. Results The success rate of flap transplantation was 91.4% (53/58). The 2?year overall survival rates ( OSR) of cervical esophageal cancer and hypopharyngeal cancer patients were 67. 5% and 49. 3%, respectively, both were significantly better than that of laryngeal cancer. The main causes of death were local recurrence and distant metastases. The group with no short?term complications had a better two?year OSR (59.0%) than the group with short?term complications (46.6%), however, the difference between them was not significant (P=0.103). The 2?year survival rate of the initial treatment group was 65.0%, better than that of the salvage treatment group (49.4%), but the difference was not significant (P=0.051). For the stage III and IV patients, the multi?disciplinary treatment group had a significantly better 2?year OSR (64.7%) than the single or sequential treatment group (37.0%, P=0.016). Conclusions Free jejunal flap reconstruction is an ideal option for repairing the cervical digestive tract circumferential defects caused by tumor resection with a high success rate and a low mortality. Compared with the single or sequential treatment, multi?disciplinary treatment can significantly improve the survival rate of late?stage hypopharyngeal and cervical esophageal cancer patients.

Objective To investigate the survival status of patients with pharyngeal, laryngeal or cervical esophageal cancers, who received free jejunal flap ( FJF ) to repair the defects following tumor resection, and to analyze the effect of multi?disciplinary treatment on their survival. Methods Fifty?eight patients with pharyngeal, laryngeal or cervical esophageal cancer underwent free jejunal flap ( FJF ) reconstruction after cancer resection between 2010 and 2013. All their clinical records were reviewed and analyzed. Results The success rate of flap transplantation was 91.4% (53/58). The 2?year overall survival rates ( OSR) of cervical esophageal cancer and hypopharyngeal cancer patients were 67. 5% and 49. 3%, respectively, both were significantly better than that of laryngeal cancer. The main causes of death were local recurrence and distant metastases. The group with no short?term complications had a better two?year OSR (59.0%) than the group with short?term complications (46.6%), however, the difference between them was not significant (P=0.103). The 2?year survival rate of the initial treatment group was 65.0%, better than that of the salvage treatment group (49.4%), but the difference was not significant (P=0.051). For the stage III and IV patients, the multi?disciplinary treatment group had a significantly better 2?year OSR (64.7%) than the single or sequential treatment group (37.0%, P=0.016). Conclusions Free jejunal flap reconstruction is an ideal option for repairing the cervical digestive tract circumferential defects caused by tumor resection with a high success rate and a low mortality. Compared with the single or sequential treatment, multi?disciplinary treatment can significantly improve the survival rate of late?stage hypopharyngeal and cervical esophageal cancer patients.