Birth Weight ; Female ; Gastrointestinal Diseases ; etiology ; therapy ; Gestational Age ; Humans ; Infant, Newborn ; Male

Objective To investigate the relationship between apolipoprotein E(Apo E) gene poly-morphism and mild cognitive impairment (MCI) in patients with type 2 diabetes mellitus (T2DM), and e-valuate the correlative risk factors. Method 40 cases of type 2 diabetes with MCI and 80 cases of type 2 diabetes without MCI were enrolled in this study. The polymorphism of the Apo E gene was detected by PCR-restriction fragment length polymorphism(PCR-RFLP). According to the clinical data such as course of disease, plasma glucose, plasma fat and body mass index (BMI), the independent risk factors of T2DM and MCI were analyzed by non-conditional logistic regression. Results The frequency of Apo E ε_4 allele in the group of type 2 diabetes with MCI was higher than that without MCI ( 25.0% vs 10. 0% ), and the difference had statistical significance( P < 0. 01 ). The indexes of the statistical significant difference be-twcen the two groups were age, course of disease, postprandial blood glucose ( P2BG), HBA1C, BMI,family history of T2DM, hypertension, diabetic retinopathy, diabetic peripheral neuropathy, Apo E gene. The independent risk factors included diabetic retinopathy ( OR = 3. 452, P < 0. 05 ), diabetic peripheral neuropathy( OR = 3. 252, P <0. 05), Ape E gene( OR = 2. 441, P < 0.01 ), HBA1C ( OR = 1. 372, P <0.05), P2BG(OR = 1. 194, P <0.05), age(OR = 1. 194, P <0.01) and course of disease(OR =1. 142, P <0. 05). Conclusion Apo E ε_4 allele has significant relationship with T2DM and MCI. The age, course of disease, control of plasma glucose, and microvascular complication of diabetes have relation-ship with the cognitive function.

OBJECTIVE: Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation. METHODS: The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed. RESULTS: This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy. CONCLUSION The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.
Acidosis, Lactic ; Adult ; Child ; DNA, Mitochondrial/genetics* ; Humans ; Male ; Mitochondrial Encephalomyopathies ; Mutation ; Stroke ; Young Adult

Objective:To investigate the relationship between tumor necrosis factor-α (TNF-α)-308A/G gene polymorphism and mild cognitive impairment(MCI)in patients with type 2 diabetes mellitus(T2DM),and their correlative risk factors thereof.Methods:Forty cases of T2DM with MCI and 80 cases of T2DM without MCI were selected for this study.The polymorphism of the TNF-α-308A/G was detected by PCR-restriction fragment length polymorphism (PCR-RFLP).According to the clinical data,such as course of disease,plasma glucose,plasma fat and body mass index(BMI),the independent risk factors of T2DM and MCI were analyzed by non-conditional logistic regression.Results:The frequency of TNF-α2 allele was significantly higher in the group of T2DM with MCI than that without MCI (P＜0.01).The indexes of the statistical significant difference between the two groups were the age,course of disease,postprandial blood glucose(P2BG),glycosylated hemoglobin,body mass index,family history of T2DM,hypertension,diabetic retinopathy,diabetic peripheral neuropathy and TNF-α.The independent risk factors included TNF-α,diabetic peripheral neuropathy,diabetic retinopathy,age and P2BG.Conclusion:There is a significant relationship between TNF-α2 allele and T2DM with MCI.There is a significant relationship between the age,control of plasma glucose and microvaseular complication of T2DM with the cognitive funotion.

Objective To evaluate the effectiveness of bioelectrical impedance analysis(BIA) interventions on volume status in hemodialysis patient. Methods Searched The Cochrane Library, PubMed, EMbase, EBsco, Wanfang Data, China Biology Medicine, China National Knowledge Infrastructure to collect clinical trials. The retrieval time was from database to July 15, 2016. The studies were selected according to the inclusion and exclusion criteria and were critically appraised by two reviewers. Then the data of included studies were extracted. Meta-analysis was conducted by using RevMan 5.3 software and descriptive analysis. Results Ten clinical trials were included six random control trial, one controlled clinical trail, three longitudinal study, involving 2009 patients. The results of Meta-analysis showed that the effectiveness of BIA interventions on volume management could improve blood pressure (P=0.001), protect the heart function(left ventricular mass index,P=0.002), compared with the clinical evaluation method, the BIA assessment of dry weight of hemodialysis patients could reduce hospitalization rate 14%. Descriptive analysis showed that BIA intervention volume management had certain advantages for the survival benefit of patients, but the current research was still few, had not yet come to a certain conclusion. Conclusions BIA can improve the management of the volume status and dry weight of hemodialysis patients, so as to it can improve the clinical benefit and survival benefit of patients.Better methods and guidelines for assessing DW and using BIA need to be developed.We propose that experienced HD nursing staff be trained in the use of the BIA to help monitor patient over hydration and approximate dry weight in consultation with the nephrologists responsible for the care of these patients so as to obviate excessive residual over hydration between nephrology reviews.

Objective To observe the therapeutic effects of low frequency ultrasound enhanced thrombolysis (LFUET) on acute cerebral infarction (ACI) in rats.Methods The ACI animal models were established by injec- ting auto-thrombus into the rats' left middle cerebral arteries.They were then treated with urokinase,and received transcranial LFUET treatment at the same time.Nervous system functioning was assessed using NSS,and infarct vol- umes (IVs) were measured through tetrazolium chloride (TTC) staining.Results The NSS scores in the large- dose urokinase group (LDU group),the ultrasound plus small-dose urokinase group (USMU group) and in the in- farct group (Ⅰgroup) at 24 h after treatment were significantly lower than those before treatment.IVs in the two treat- ment groups are lower than those in theⅠgroup,but there was no significant difference between the LDU group and USMU group volumes.Conclusion LFUET can accelerate the recovery of nervous system function in rats after ACI,minimize IVs,and reduce the required dosage of urokinase.

Objective To construct a specific small interfering double-stranded RNA(siRNA) expression vector of Caspase-12 and to evaluate inhibitory effect of this siRNA on caspase-12 mRNA activity.Methods Three groups of siRNA targeting different gene sites of caspase-12 were designed and synthesized chemically.Mouse hepatoma cell line,Hepa1-6,was transfected with the siRNA by 24 h.Reverse transcription-polymerase chain reaction(RT-PCR)was performed to analyze the inhibi- tion of caspase-12.Then the most effective siRNA was selected and the two template sequences for the siRNA were inserted into pRNAT-H1.1Neo expression vector.The recombinant plasmid, referred to as pRNAT-casp12,was verified by PCR analysis and sequencing.The expression of caspase-12 at mRNA and protein level,after transfection with pRNAT-casp12 by 48 h and 72 h respectively,were analyzed by using real-time PCR and Western blotting.Results The chemically synthesized siRNA*1 and siRNA*3 could inhibit mouse hepatoma cell caspase-12 mRNA by 59.9% and 39.6%(P

Objective To explore effect of cyclooxygenase-2 ( COX-2) expression on cell viability , proliferation, apoptosis and other biological behavior of human colon cancer cell line HT-29.Methods The expression of COX-2 was examed by Western blot and real-time PCR after siRNA COX-2, empty body was transferred into human color-ectal cancer cell line HT-29 by liposome .Cell viability was measured by CCK-8 method .Cell apoptosis and cell cy-cle was measured by flow cytometry .Cell migration and invasion was detected by scratch test and Transwell method , respectively.The expression of Bcl-2, Bax, matrix metalloproteinase 2 (MMP2) was measured by real-time PCR. The level of protein kinase B ( AKT) phosphorylation was measured by western blot .Results Compared with the control group and empty vector group, the expression of COX-2 protein and mRNA was decreased ( P<0.01) , cell viability was reduced ( P<0.01) , cell apoptotic rate was increased ( P<0.01) , cell cycle was arrested in G phase ( P<0.01 ) , cell migration and invasion ability was decreased ( P<0.01 ) , the expression of Bcl-2, MMP2 mRNA and p-AKT protein was down-regulated (P<0.01), the expression of Bax mRNA was up-regulated in COX-2 inhibition group ( P<0.01 ) .Conclusions Down-regulation of COX-2 expression can significantly inhibit HT-29 cell proliferation , migration and invasion , and induce cell apoptosis , which may be related to the down-reg-ulation of AKT phosphorylation .

OBJECTIVETo investigate the expressions of stathmin gene and its coding protein in laryngeal squamous cell carcinoma, and to explore the relationship between stathmin gene and the biological behaviors of laryngeal squamous cell carcinoma for understanding the tumorigenicity and development of laryngeal squamous cell carcinoma.

METHODSLaryngeal carcinoma tissues (studying group) in the tumors center and laryngeal normal tissues (control group) parted from 1.0 cm of the safe borderline of the tumors were took from 38 patients with laryngeal squamous cell carcinoma while they were in operation. Semiquantitative method of reverse transcriptase polymerase chain reaction (RT-PCR) was used to analyze the expression level of stathmin mRNA, and immunohistochemical staining (frozen section) was used to detect the expressions of stathmin protein, in laryngeal carcinoma tissues and laryngeal normal tissues of 38 cases, respectively.

RESULTSmRNA of stathmin gene was all positively expressed in laryngeal carcinoma tissues and in laryngeal normal tissues of 38 cases by RT-PCR. However, stathmin mRNA was obviously overexpressed in laryngeal carcinoma tissues than that in laryngeal normal tissues (t = 9.655, P < 0.05). Immunohistochemical staining showed stathmin protein was positively expressed in laryngeal carcinoma tissues of 26 cases (26/38, 68.4%), and mild-positively expressed in laryngeal normal tissues in 13 cases (13/38, 34.2%). There was significant difference between the expression rate of stathmin protein in laryngeal carcinoma tissues and in laryngeal normal tissues (chi2 = 8.901, P < 0.05). Meanwhile, the expression level of stathmin mRNA and the positive-expressed rate of stathmin protein in laryngeal carcinoma tissues of the advanced stage patients group (III stage and IV stage) were significantly higher than these in laryngeal carcinoma tissues of I and II stage patients group (t = 6.284, chi2 = 5.810, P < 0.05), and they were also significantly higher in laryngeal carcinoma tissues of the patients group with cervical lymph node metastasis than in laryngeal carcinoma tissues of the patients group without cervical lymph node metastasis (t = 9.350, chi2 = 6.923, P < 0.05).

CONCLUSIONSThe expression levels of stathmin gene and protein were significantly higher in laryngeal squamous cell carcinoma than these in laryngeal normal tissues, the levels are also significantly higher in advanced stage patients group (III stage and IV stage) than in the early stage patients group (I and II), and they are also related to the cervical lymph node metastasis of carcinoma. Stathmin gene may play an important role in the pathogenesis and development of laryngeal carcinoma and may be related to its prognosis.

Adult ; Aged ; Carcinoma, Squamous Cell ; genetics ; metabolism ; pathology ; Humans ; Laryngeal Neoplasms ; genetics ; metabolism ; pathology ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Stathmin ; genetics ; metabolism

OBJECTIVETo explore the techniques, advantages and disadvantages, indications and cautions of a surgical approach for the resection of nasopharyngeal tumor.

METHODSTen cases with nasopharyngeal tumors were recruited in this study, of them, 3 cases with residual nasopharyngeal carcinoma after chemoradiotherapy, 2 cases with cavernous angioma, 2 cases with benign mixed tumor, 1 malignant mixed tumor, 1 adenoid cystic carcinoma, and 1 chordoma. All patients underwent endoscopic resection of posteroinferior quarter part of nasal septum, and then the removal of nasopharyngeal tumors through bilateral transnasal approach.

RESULTSTotal resection of the tumor was achieved for all cases without severe surgical complications. All cases with benign tumors, with following-up of 6-18 months, showed no recurrence. Of 6 cases with malignant tumors, with following-up of 12-48 months, 5 cases showed no recurrence, and 1 case was suspected to relapse one year postoperatively, but not with any lesion enlargement after another 6 month follow-up.

CONCLUSIONSPosteroinferior quarter part of nasal septectomy is preferred for endoscopic resection of nasopharyngeal tumors because it can provide a panoramic view on nasopharyngeal cavity and tumors, thus, facilitating the removal of nasopharyngeal tumors.

Adult ; Aged ; Endoscopy ; methods ; Female ; Humans ; Male ; Middle Aged ; Nasal Septum ; surgery ; Nasopharyngeal Neoplasms ; surgery ; Treatment Outcome ; Young Adult