Objective To inquire into the location of the relevant gene mutations in the Chinese familial hypokalaemic periodic paralysis, and to specify the correlation between the genotype and the clinical features of this disease. Methods Target-exon PCR and DNA direct sequencing were used to research the mutations in the CACNA1S, SCN4A, and KCNE3 genes of 14 familial hypokalaemic periodic paralysis probands. If a positive member was found, the other members of his (her) family must be inspected with the sequencing method. Results The probands of 3 families showed the known correlating mutations of hypokalaemic periodic paralysis, which were R1239H mutations in the CACNA1S in 1 family and R672H mutations in the SCN4A in the other 2 families. In addition, the differences of the age of onset, the responsibility to the treatment with acetazolamide and penetrance were found between the CACNA1S R1239H and SCN4A R672H mutations. Conclusions SCN4A R672H and CACNA1S R1239H mutations exist in the Chinese familial hypokalaemic periodic paralysis. Differences of the clinical features exist, resulting from these 2 kinds of mutations.

BACKGROUND: Demineralized bone matrix and bone morphogenetic protein have been shown to have good bone induction, but less studies concerned nanometer demineralized bone matrix. Its physical and chemical properties and biological security are not yet clear.
OBJECTIVE:On the basis of preparing the nanometer human demineralized bone matrix in previous experiment, we mixed the recombinant human bone morphogenetic protein-2 together to obtain the new bone graft substitute and to research its physical and chemical properties and biological security.
METHODS:The human demineralized bone matrixes were prepared by the method of modified Urist and nano-processed then mixed with the bone morphogenetic protein-2 in specific proportions in order to be lyophilized to complete the fol owing experiments. (1) Pyrogen experiment:the material extracts were injected in the rabbits by ear intravenous. (2) Toxicity experiments:material extracts and saline were separately injected via the tail vein of mice in vivo. (3) Implantation experiments:experimental materials andβ-tricalcium phosphate were implanted into rabbits on both sides of the hindlimb muscle.
RESULTS AND CONCLUSION:After lyophilized shaping, the nanometer demineralized bone matrix material had dense surface and it’s pore diameter was 100-400μm. The pore distribution was less uniform and the porosity was of less than 30%. The main elements were carbon, oxygen and nitrogen. Nanometer human demineralized bone matrix with recombinant human bone morphogenetic protein-2 did not have pyrogen effect and the rabbits’ body temperature had no significant fluctuations after injection. The acute systemic toxicity test results showed that the nanometer human demineralized bone matrix with recombinant human bone morphogenetic protein-2 complied with the relevant provisions of the State, without obvious toxic reaction. The inflammatory response of nanometer human demineralized bone matrix with recombinant human bone morphogenetic protein-2 was significantly lighter than the reaction ofβ-tricalcium phosphate. The results showed that the nanometer human demineralized bone matrix with recombinant human bone morphogenetic protein-2 is a nanometer al ogeneic bone graft substitutes with nontoxicity, good biocompatibility, high bioavailability, and less inflammatory reaction.

Objective To explore the clinical value of cranial CT for the patients in neurological ICU by analyzing the application of mobile CT scanner CereTom in some hospital.Methods Retrospective analysis was carried out for the patients being hospitalized and undergoing cranial CT examination in some hospital from March 2012 to August 2014.Results Totally 261 patients and 325 times of examination were involved in, and two ones failed in the examination, with the success rate of 99.23%. There were 218 patients (83.52%) had the examination completed in one time and 43 ones (16.48%) in several times. It's proved that bedside CT could be applied clinically with high successful rate. The mean time of bedside CT examination was (18.3±3.8)min, significantly less that then of common examination.Conclusion Mobile CT may decrease moving-related risk of the patient and the time, manpower consumed for examination, and thus is worth popularizing clinically.

Objective To analyze the sensitivity of auxiliary examinations in different periods of sporadic Creutzfeldt-Jakob disease (sCJD).Methods The clinical data of 53 sCJD patients were retrospectively analyzed including the different stages of skull diffusion-weighted magnetic resonance imaging (DWI),24-hour ambulatory electroencephalogram (EEG),18F-FDG PET/CT (PET-CT)and cerebrospinal fluid 14-3-3 protein.When calculating the sensitivity of an auxiliary examination,the diagnostic criteria were defined by combining the specific clinical manifestations with two or more positive results of other auxiliary examinations.Results There were 24,53 and 22 sCJD patients,respectively,met the criterion of early (E),middle (M) and later (L) stage of disease (some patients fit 2 or 3 stages).The sensitivity ofDWl (E:58.3％ M:85.4％,L:94.7％),EEG (E:45.8％,M:62.7％,L:77.8％),14-3-3 protein in cerebrospinal fluid (E:11.1％,M:52.9％) and PET-CT (E:80％,M:100％) increased gradually with disease progression,The sensitivity of PET-CT was higher than the other auxiliary examinations for E and M stages;no PET-CT was conducted in L stage.High signal regions mainly distributed in the cortex in E and M stages,but in L stage,no significant difference was found on the distribution of high signal regions between cortex and basal ganglia.Conclusions The sensitivities of the auxiliary examinations were different for sCJD patients in different stages.Reexaminations in different periods may improve the sensitivity for sCJD diagnosis.The sensitivity of PET-CT was high,and the combination of PET-CT and other auxiliary examinations may play a key role in the diagnosis of sCJD.

Objective To explore the association between PI3K polymorphisms in insulin signal transduction pathway and Alzheimer's disease (AD)risk.Methods There were three groups,including 112 cases for AD +T2D group,231 cases for only AD group,and 231 cases for healthy controls group.The polymorphisms in PI3K gene was sequenced by PCR and the concentration of PI3K in serum was tested by enzyme -linked immunosorbent assay (ELISA).Results Overall,there was significantly statistical difference in PI3K rs3730087 polymorphism among three groups (χ2 =20.99,P =0.000 3).The CC frequency of PI3K rs3730087 polymorphism in AD with T2D group and AD control group was significantly higher than that in the healthy control group.The PI3K protein level of differ-ent genotype was statistically significant (F =27.450,P <0.000 1).As for CC genotypes of PI3K rs3730087 poly-morphism,the PI3K protein level was statistically different among these three groups (F =8.096,P =0.000 6).Moreover,the PI3K protein level of the three groups was different (F =9.034,P =0.000 1),which in both AD group was lower as compared with healthy control group.Conclusion The study suggested that CC genotype of PI3K rs3730087 polymorphism in insulin signaling transduction pathway might be a risk factor for AD with T2D and it also affects the expression level of PI3K protein.However,the polymorphism is not shown to be exclusive in AD patients with T2D.

To observe the feasibility and safety of general anesthesia without muscle relaxant tracheal intubation combined with right stellate ganglion block (SGB) on patients undergoing oropharyngeal surgery.60 patients undergoing selective oropharyngeal surgery were randomly and equally divided into 2 groups:named in non muscle relaxation group and combination group.MAP,HR,SpO2 and PETCO2 were recorded before administration (T0),immediately before tracheal intubation(T1),and immediately after tracheal intubation(T2),and immediately after skin incision (T3).The VAS score at 4,8,12,24 h after surgery were also recorded.The difference of the satisfactory intubation conditions was not statistically significant.MAP and HR were increased at T2 and T3 as compared with non muscle relaxation group.Compared with combination group,HR increased at T2 and T3 in group A.The VAS of patients in combination group was lower than non muscle relaxation group (P ＜ 0.05).Stellate ganglion block on patients undergoing oropharyngeal surgery in general anesthesia without muscle relaxant might provide not only satisfactory intubation conditions but also provoke earlier recovery and improve the quality of postoperartive analgesia.

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is a primary headache syndrome with an unclear pathogenesis. However, there is increasing evidence in the literature for secondary SUNCT being attributable to certain known lesions. We explored the possible neurobiological mechanism underlying SUNCT based on all reported cases of secondary SUNCT for which detailed information is available. Here we report a case of neuromyelitis optica spectrum disorders that had typical symptoms of SUNCT that might have been attributable to involvement of the spinal nucleus of the trigeminal nerve. We also review cases of secondary SUNCT reported in the English-language literature and analyze them for demographic characteristics, clinical features, response to treatment, and imaging findings. The literature review shows that secondary SUNCT can derive from a neoplasm, vascular disease, trauma, infection, inflammation, or congenital malformation. The pons with involvement of the trigeminal root entry zone was the most commonly affected region for inducing secondary SUNCT. In conclusion, the neurobiology of secondary SUNCT includes structures such as the nucleus and the trigeminal nerve with its branches, suggesting that some cases of primary SUNCT have underlying mechanisms that are related to existing focal damage that cannot be visualized.
Headache Disorders ; Headache* ; Inflammation ; Neurobiology ; Neuromyelitis Optica ; Pons ; Tears* ; Trigeminal Nerve ; Vascular Neoplasms

Objective To study the role of interictal epileptiform discharge (IED) in reducing recurrent epilepsy after withdrawal of antiepileptic drugs (AED).Methods One hundred epilepsy pa tients with no seizure for ≥2 years were divided into IED group (n=51) and IED free group (n=49) according to the classification of epilepsy seizure developed by the International Association for the Prevention of Epilepsy in 1981.The patients were further divided into elderly group (n=21) and non-elderly group (n=79) and were followed up for at least 1 year by return visit or telephone.Results No significant difference was found in the incidence of IED in the 100 epilepsy patients with different types of seizure,such as myospasm,simple partial seizure and ≥2 seizures.However,the incidence of IED was significantly higher than that of myotonia,myospasm,absence and simple partial seizure (P＜0.05).Epilepsy recurred in 37 patients (72.5％) of IED group and in 16 patients (32.7％) of IED-free group.Logistic regression analysis showed that the course of epilepsy and IED were the risk factors for recurrent epilepsy after withdrawal of AED (OR=1.165,95％CI:1.022-1.329,P=0.022;OR=2.794,95％CI:1.040-7.509,P=0.042) and the course of epilepsy was longer in elderly group than in non-elderly group (10.10±7.55 years vs 5.97±4.04 years,P=0.001).Conclusion The seizure type and course of epilepsy are the relia ble predictors of recurrent epilepsy in patients with no seizure for a long time after withdrawal of AED,and are thus of clinical significance.

With the development of researches on the relationship between periodontal health and general health, more and more evidences showed that periodontitis was closely related to oculopathy, while the mechanisms were not very clear at present. This article will focus on the influences of periodontitis on the occurrence and development of various oculopathy such as diabetic retinopathy and senile macular degeneration, and discuss the possible mechanisms of the influence by periodontitis. This will provide a theoretical basis for the new ideas on prevention and treatment of oculopathy.

AIM:To investigate the effects of γ-synuclein on autophagy and apoptosis of colon cancer cells in-duced by endoplasmic reticulum stress,as well as the protective effect on the cells.METHODS:Gene expression profile chip analysis was performed to compare the cDNA expression profiles between human colon cancer HCT116 cells with γ-synu-clein knockdown and HCT116 cells with control siRNA,and to identify potential molecules related to autophagy and apop-tosis.In colon cancer cell lines,the functional effects of γ-synuclein on autophagy and apoptosis induced by thapsigargin(TG),an endoplasmic reticulum stress-inducing agent,were systematically explored by conducting immunofluorescence staining,Western blot,CCK-8 assay,flow cytometry,and transmission electron microscopy.Western blot was used to de-tect the expression of γ-synuclein protein,autophagy-related proteins[microtubule-associated protein 1 light chain 3(LC3),beclin-1,autophagy-related protein 5(ATG5)and ATG7],and apoptosis-related proteins[poly(ADP-ribose)polymerase(PARP),pro-caspase-3,and pro-caspase-9].To further analyze the mechanism of γ-synuclein in regulating autophagy and apoptosis,extracellular signal-regulated kinase(ERK)inhibitor PD98059,ERK inhibitor SP600125 and c-Jun N-terminal kinase(JNK)activator anisomycin were applied separately to test HCT116 cells transfected with γ-synu-clein siRNA.Subsequently,autophagy proteins,apoptosis proteins,and ERK and JNK pathway-related proteins were de-tected by Western blot.RESULTS:The TG-induced autophagy of colon cancer cells mainly occurred at the early stage(0～24 h),and apoptosis mainly occurred at the late stage(36～48 h).Endoplasmic reticulum stress up-regulated the ex-pression of γ-synuclein in colon cancer cells,which was associated with enhanced autophagy.γ-Synuclein promoted au-tophagy by activating ERK and JNK pathways at the early stage(0～24 h),and inhibited apoptosis by blocking JNK path-ways at the late stage(24～48 h)to protect HCT116 cells.In our model,γ-synuclein was observed to play a critical role in the transition from endoplasmic reticulum stress-induced autophagy to apoptosis.CONCLUSION:In the context of endo-plasmic reticulum stress,γ-synuclein promotes autophagy and inhibits apoptosis by regulating ERK and JNK signaling pathways,thus protecting colon cancer cells.This provides a potential idea for anti-tumor therapy.