Objective To analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to improve the understanding of MRI manifestations of this disease. Meth?ods The clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families. Results Five of six cases were confirmed with C2182T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1WI and hyperintensity on both T2WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2WI. Subcortical lacunar lesions (SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were re?vealed in three cases. There was no O’Sullivan sign in all the six cases. Conclusions There is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.

The proteins encoded by the Herpesviridae β-gene play a critical role in the replication stage of the virus. In this paper, phylogenetic analyses provided evidence that someβ-gene products, such as UL2 and UL23 from HSV1, have their homologous genes in its family, and also exist in prokaryotic organisms, indicating that these viruses appear to have been assembled over evolutionary time by numerous independent events of horizontal gene transfer.

OBJECTIVETo detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.

METHODMLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.

RESULTTwo cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.

CONCLUSIONThree cases had 22q11 microdeletion in the congenital heart defects.

Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; Female ; Heart Defects, Congenital ; diagnosis ; genetics ; Humans ; Infant ; Male ; Nucleic Acid Amplification Techniques ; methods

A sensitive high performance liquid chromatography-electrospray ionization-mass spectrometry (HPLC-ESI-MS) method was established for the determination of eplerenone (EP) in human plasma. The plasma samples of EP were extracted with ethyl acetate and separated by HPLC on a reversed phase C18 column with a mobile phase of 10 mmol x L(-1) ammonium acetate water solution-methanol (30 : 70, v/v). EP was determined with electrospray ionization-mass spectrometry (ESI-MS) in the selected ion monitoring (SIM) mode. The calibration curves were linear over the range of 2-4 000 ng x mL(-1) for EP. The lower limit of quantification was 2 ng x mL(-1). The method has been successfully applied in the pharmacokinetic study of the EP tablets. The main pharmacokinetic parameters of EP after oral administration of 25 mg, 50 mg, 100 mg were as follows, t1/2: (4.9 +/- 2.1), (4.7 +/- 1.5), (5.9 +/- 1.2) h; AUC(0-infinity): (4 402 +/- 1 735), (8 150 +/- 2 509), (13 783 +/- 4 102) microg x h x L(-1); and MRT: (6.2 +/- 2.1), (6.6 +/- 1.3), and (7.2 +/- 1.6) h. Parameters of EP after oral administration of multiple doses of 50 mg were as follows, t1/2: (6.1 +/- 1.7) h; AUC(ss): (10 071 +/- 4220) microg x h x L(-1); MRT: (8.1 +/- 2.3) h; and DF: (3.2 +/- 1.0).
Chromatography, High Pressure Liquid ; methods ; Humans ; Spectrometry, Mass, Electrospray Ionization ; methods ; Spironolactone ; analogs & derivatives ; blood ; pharmacokinetics

Objective:To explore the short,long term efficacy and improvement of quality of life of patients with breast cancer after radical mastectomy by Stewart transverse incision.Methods:Collecting 104 patients with breast cancer from May 2009 to May 2013 in the hospital,55 cases of breast cancer were treated with Stewart transverse incision (the experimental group)and 49 cases were treated with traditional vertical incision for breast cancer (the control group).All the patients were treated with adjuvant chemotherapy.To observe the skin healing of the incision in the two groups after operation.Patients were followed up for 3-48 months,compared with two groups the incidence of postoperative complications,recurrence and metastasis and improve the quality of life.Results:Compared with the control group,the healing rate of grade A was significantly improved in the experimental group,the difference was statistically significant(P＜0.05).There was significant difference between the experimental group and the control group (P＜0.05).The incidence of complications such as flap fluid and upper limb edema was lower in the experimental group than in the control group,but the difference was not statistically significant (P＞0.05).The local recurrence,remote metastasis and 4-year survival rate of the experimental group were better than the control group,but the difference was not statistically significant (P＞0.05).The quality of life of the two groups of patients,the experimental group score in all areas were higher than the control group,the difference was statistically significant (P＜0.05).Conclusion:Stewart transverse incision breast cancer radical surgery is more conducive to wound healing,postoperative local recurrence rate,incidence of complications and psychological impact on patients were significantly reduced.And effectively improve the quality of life of patients after surgery.

OBJECTIVETo establish a colorectal cancer cell line with stable PRL-3 and CDH22 gene knock-down for investigating the role of PRL-3 and CDH22 genes in the carcinogenesis and metastasis of colorectal cancer.

METHODSA recombinant lentiviral vector targeting CDH22 gene was obtained using the pENTRTM/U6 construct and pLenti6/BLOCK-iT (TM)-DEST vector. The recombinant lentivirus was harvested from 293FT cells cotransfected with the optimized ViraPower(TM) Packaging Mix and the pLenti6/BLOCK-iT(TM)-DEST expression construct. SW480/PRL-3- cells were infected with the recombinant lentivirus targeting CDH22, and SW480 cells with stable PRL-3 and CDH22 knock-down were screened by blasticidin selection. PRL-3 expression in the cells was determined by real-time RT-PCR. RESULTS The titer of the lentivirus for the second infection was 8 x 10(5) U/ml. Seventeen positive clones were selected, among which the Clone 1 exhibited substantially down-regulated CDH22 and PRL-3 mRNA expressions.

CONCLUSIONSA human colorectal cancer cell line with stable PRL-3 and CDH22 gene knock-down has been established.

Cadherins ; genetics ; Cell Line, Tumor ; Clone Cells ; metabolism ; Colorectal Neoplasms ; genetics ; pathology ; Gene Expression Regulation, Neoplastic ; Gene Knockdown Techniques ; methods ; Humans ; Lentivirus ; genetics ; Neoplasm Proteins ; genetics ; Protein Tyrosine Phosphatases ; genetics ; RNA Interference ; RNA, Messenger ; genetics ; metabolism

OBJECTIVETo determine whether polymorphisms in the estrogen receptor (ER) genes are associated with chronic periodontitis in a Chinese population overall the Shanxi territory.

METHODS109 patients with chronic periodontitis and 99 healthy controls were recmited in this study. Genomic DNA was extracted from oral mucosa swab sample of each subject by the Chelex-100 method. Determination of the ER-alpha and -beta polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), respectively.

RESULTSThe analysis of the Xba I polymorphisms in ER-alpha gene revealed significant differences between patients and controls. The detection frequency of XX genotype was significantly higher in the chronic periodontitis patients than in control subjects. The difference between the female chronic periodontitis patients and healthy controls was statistically significant, but no difference was found between the male patients and controls. Nevertheless, no significant association was noted in the frequency of both Rsa I and Alu I polymorphisms in ER-beta gene between chronic periodontitis and controls.

CONCLUSIONIt is indicated that the ER-alpha XX genotype may be a susceptible indicator for chronic periodontitis in female Han Chinese subjects.

Asian Continental Ancestry Group ; Case-Control Studies ; Chronic Periodontitis ; Estrogen Receptor alpha ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length

OBJECTIVETo observe the correlation between brain-derived neurotrophic factor (BDNF) expression in the nerve system of diabetes mellitus (DM) rats and diabetic erectile dysfunction (ED).

METHODSDM rats were induced by injecting streptozotocin and erectile function test was done by injecting apomorphine (APO) at 1 month, 2 months, 3 months and 4 months. Then the brain, lumbosacral spinal cord, thoracic and lumbar sympathetic trunks, penis and prostate were taken from the diabetic and normal rats of the same age. The BDNF positive neurons and nerve fibers were shown by immunohistochemistry or fluorescence immunohistochemistry. The number and the grey density of BDNF positive cells and fibers were detected by image analysis.

RESULTSCompared with the control group, the erection frequency of the DM rats decreased at 2 months (P <0. 05) , and significantly at 3 and 4 months (P > 0.01) , and the BDNF positive neurons and nerve fibers in the cerebral cortex, lumbosacral spinal cord, thoracic and lumbar sympathetic trunks, penis and prostate of 1-month DM rats were reduced (P <0. 05). As time went on, BDNF declined progressively.

CONCLUSIONBDNF decreases in the central and peripheral nerve system in the early stage of diabetes mellitus, wich is closely correlated with diabetic ED.

Animals ; Brain-Derived Neurotrophic Factor ; biosynthesis ; Diabetes Mellitus, Experimental ; physiopathology ; Erectile Dysfunction ; physiopathology ; Male ; Nerve Tissue ; metabolism ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo investigate the correlation between moderate to severe periodontitis and coronary heart disease (CHD) and to examine the serum C-reactive protein (CRP) levels in subjects with CHD and/or moderate to severe periodontitis.

METHODSSerum CRP levels, serum lipids [low density lipoprotein-cholesterol (LDL-C), high density lipoprotein-cholesterol (HDL-C), total cholesterol (TC) and triglyceride (TG)] and clinical periodontal parameters [clinical attachment loss (CAL), probing depth (PD), and bleeding on probing (BOP)] were measured and analyzed in coexistent moderate to severe periodontitis and CHD patients (n = 47), CHD patients (n = 28), moderate to severe periodontitis patients (n = 40), and healthy subjects (n = 40).

RESULTSThe serum CRP levels in control group, moderate to severe periodontitis patients, CHD patients and patients with both diseases were (1.30 +/- 0.15), (2.44 +/- 0.18), (5.99 +/- 0.82) and (6.88 +/- 0.71) mg/L, respectively. The differences among these four groups were significant (P < 0.001). The multivariate logistic regression revealed that moderate to severe periodontitis patients exhibited markedly elevated odds of having CHD (OR = 2.417, 95% CI: 1.126 - 6.659). The total cholesterol levels were also significantly different among the four groups (P = 0.017).

CONCLUSIONSThe moderate to severe periodontitis was associated with elevated serum CRP levels which may in turn affect the initiation and progression of CHD, and may be a risk factor for CHD.

Adult ; C-Reactive Protein ; metabolism ; Case-Control Studies ; Coronary Disease ; blood ; Female ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Periodontitis ; blood

OBJECTIVEWernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. The disorder is still greatly underdiagnosed in children because of either a relatively non-specific clinical presentation in some cases or unrecognized clinical setting. The aim of this literature review was to provide knowledge of pediatric WE in an effort to assist in early diagnosis, thereby reducing the morbidity and mortality.

METHODSThe clinical manifestations, characteristic magnetic resonance imaging (MRI), diagnosis and treatment of one case and the other 35 cases reported in the last decade in children were summarized.

RESULTSThirty-six cases (22 boys and 14 girls, 2-month to 16-year-old) were analyzed. All the other 35 cases except for our case had underlying diseases: improper feeding in 25/35 cases, long-time vomiting in 5/35 cases, immunosuppressive therapy in 4/35 cases, long-time total parenteral nutrition without multivitamin preparations supplementation in 3/35 cases and anorexia nervosa in 1/35 case. The classic triad (mental-status changes, nystagmus and ophthalmoplegia, and ataxia) was seen in 6/36 cases. The other clinical manifestations included consciousness disturbance in 24/36 cases, infection in 22/36 cases, pathological reflex and muscular tension changes in 18/36 cases, convulsion in 17/36 cases, developmental delay in 4/36 cases and failure to thrive in 2/36 cases. Cerebrospinal fluid examination was performed in 31/36 cases, and a slightly raised protein concentration was seen in 7/31 cases. The cerebrospinal fluid lactate levels were detected in 4/36 cases (all increased), serum lactic acid levels in 7/36 cases (6/7 cases increased), serum pyruvate in 4/36 cases (all increased), thiamine pyrophosphate effect (TPPE) in 9/36 cases (all increased), and serum thiamine in 2/36 cases (increased in 1/2 cases). The brain computed tomography (CT) scan was conducted in 20/36 cases and 16/20 cases showed abnormal hypodensity in bilateral basal ganglia, one case revealed diffuse cortical atrophy. The brain MR scan was conducted in 13/36 cases and all the 13 cases revealed symmetrical abnormal signal in bilateral mamillary body and basal ganglia, and 7/13 cases showed abnormal signals in the tegmentum of midbrain, cerebral aqueduct and white matter around the third and fourth ventricles. The diagnosis of WE was confirmed by MR in 12 cases, triad combined with MR in 3 cases, autopsy in 1 case among the 13 cases who underwent MR scan. The diagnosis of WE was confirmed by the TPPE and/or lactate levels in 9/11 cases. The initial thiamine was given by intravenous or intramuscular infusion in 33/36 cases, unknown method in 1 case, orally in 1 case and no thiamine was used in 1 case. The dosage of thiamine was 100 mg daily in 29/35 cases, unknown in 3/35 cases, 50 mg daily in 2/35 cases, 600 mg daily in 1/35 case. 34/35 patients' clinical symptoms improved during 24 hours to 1 week after initial treatment, and 1 case died due to no response to thiamine. Nineteen patients were followed up for 2-2.5 months and 17 cases recovered completely.

CONCLUSIONWernicke's encephalopathy can be difficult to diagnose because of a relatively non-specific clinical presentation. The characteristic MRI findings and the dramatic response of neurological signs to parenteral thiamine will assist early clinical diagnosis. Early and timely thiamine supplementation could reverse the clinical features and improve the prognosis in most cases.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Sepsis ; complications ; Wernicke Encephalopathy ; complications ; diagnosis