Studies in recent years have suggested that the basic characteristics of the identified cerebral autosomal dominant arteriopathy with subeortical infarcts and leukoencepha-lopathy (CADASIL) are the onset of the disorder with a form of familial hereditary, middle-age onset with progressive ischemic stroke-like course and multiple diffuse white matter lesions, the identified MRI abnormal white matter signals and pathology. Molecular genetic studies have suggested that the multiple mutations of the Notch3 gene are associated with CADASIL. The combination of gene diagnosis with peripheral tissue biopsy may be the most valuable diagnostic means before death. To study CADASIL from the aspects of pathogenesis and clinical manifestations contributes to improve clinical diagnosis rate.

Objective To investigate the causes on platelet distribution width (PDW)results not shown in the automatic he-matology analyzer and evaluate the accuracy of the platelet results of these samples with the automatic hematology analyzer. Methods The platelet morphology was observed in microscope for the specimen which PDW were not shown in the auto-matic hematology analyzer.And the platelet results counted in microscope were statistically compared with that in the auto-matic hematology analyzer.Results In the 200 specimens which PDW were not shown in automatic hematology analyzer, there were 104 specimens(52%)in which large platelet was found,36 cases(18%)in which platelet aggregation was visible, 28 cases(14%)in which the microcytes or erythrocyte debris could be seen,32 cases(16%)in which the obvious abnormal was not found.The platelet results counted in microscope for the specimens,in which large platelets,platelet aggregation or microcytes were found,were very different with the results counted with the automatic hematology analyzer(P < 0.05).The PDW of the 200 specimens were rechecked in the automatic hematology analyzer.And 64 cases (32%)PDW results were got,of which 55 cases(85.9%)PDW results were beyond the normal range.Conclusion The main causes for the PDW not shown in automatic hematology analyzer includes large platelets,platelets aggregation and microcytes etc.The platelet re-sults in these specimens by automatic hematology analyzer were different with that counted in microscope.Therefore,the platelet of these specimens should be counted in microscope.

Objective To understand the incidence and the severity of hypertension in patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) and to analyze the impact of OSAHS on the circadian rhythm of blood pressure in patients with hypertension and to investigate the risk factors for the occurrence of hypertension from the aspects of nocturnal hypoxemia and sleep structure. Methods Polysomnography monitor was used for 7-hour sleep monitoring at night and 24-hour ambulatory blood pressure monitoring in 77 patients with OSAHS (severe, n = 33; moderate, n = 23; mild, n = 23). The sleep-related indicators and blood pressure at different times were analyzed, and they were compared to the patients with hypertension without OSAHS (n = 15) and normal controls (n = 15). Results (1) The body mass index (BMI) in the severe, moderate, and mild OSAHS groups was 29.1±2.8, 25.0±2.5, and 23.2±3.0 kg/m~2 respectively, and they were all significantly higher than 20.3±4.1 kg/m~2 in the control group (all P <0.05); sleep apnea-hypopnea index (AHI) was 56.2±14.7, 19.1± 4.4, and 11.2±4.3/h respectively, and they were significantly higher than 2.9±1.0/h in the control group (all P <0. 05); oxygen saturation index (ODI) was 62.5±20.4, 19.6±8.8, and 24.8±22.7/h respectively, and they were significantly higher than 2.7±2.0/h in the control group (all P <0.05); microarousal index (MI) was 47.5±20.9, 12.8±4.6, and 9.8±4.6/h respectively, arid they were significantly higher than 1.3±1.1/h in the control group (all P < 0.05); 24-hour mean systolic blood pressure was 133±14.5, 126±6.5, and 118± 9.9 mm Hg respectively, and the severe and moderate OSAHS groups were significantly higher than 117±9. 6 mm Hg (all P <0.05); 24-hour mean diastolic blood pressure was 92.8±9.6, 86.3±7.5, and 81.9±3.9 mm Hg respectively, and the severe and moderate OSAHS groups were significantly higher than 78.5±5.6 mm Hg in the control group (all P <0.05); and the lowest oxygen saturation was 65.5%±10.4%, 78.5%±5.1%, and 79.7%±9.6% respectively, and the severe and moderate OSAHS groups were significantly lower than 84.7% ±8.2% (P <0.05). (2) There was no significant difference in blood pressure before going to bed and waking up between the hypertension group and the control group. The blood pressure after waking up in the OSAHS combined with hypertension group was significantly higher than before going to bed (142.0±12.4/110.0±10.2 mm Hg vs. 127.4±9.8/84.2± 6.0 mm Hg, P <0.05). (3) ODI and MI in the OSAHS combined with hypertension group were 43.5±26.2/h and 31.6±21.2/h respectively, and they were significantly higher than 26.7± 13.2/h and 27.5±20.6/h in the non-hypertension OSAHS group (all P <0.05), and the non-rapid eye movement sleep period S3 +4 and the sleep efficiency of the former were 5.1%± 3.5% and 62.2±15.4% respectively, and they were all significantly lower than 8.8%± 5.2% and 69.92%±14.8% of the latter (P <0.05 and 0.01, respectively). (4) component ratio of non-dipper blood pressure curve was 56.1% in the OSAHS combined with hypertension group, and it was significantly higher than 13.1% in the control group and 16.7% in the simple hypertension group (all P <0.01 ). (5) Multivariate logistic regression analysis showed that ODI (OR = 1.29, 95% CI 1.57-1.07; P = 0.01 ), MI (OR = 0.925, 95% CI 0.874-0.980; P =0.008) and the time of period S3 +4 (OR = 1.087, 95% CI 1.034-1.142; P =0.001 ) were significantly correlated with hypertension alter adjusting for BMI, sex and age. Conclusions Systolic and diastolic blood pressures in the OSAHS group were significantly high-er than those in the normal control group, and the blood pressure increased with the aggravation of OSAHS. 1he circadian rhythm of blood pressure disappeared, and the blood pressure variabili-ty showed a non-dipper-shaped curve. The major risk factor for causing patients with OSAHS combined with hypertension was nocturnal hypoxemia and then severe sleep disorders and in-creased MI.

Objective To understand pathogen spectrum of bacterial and fungal infection of central nervous system (CNS),and evaluate the etiological diagnostic value of universal primer polymerase chain reaction (PCR).Methods Data about patients with suspected or confirmed bacterial and fungal infection of CNS from January 2009 to March 2015 were collected,species of pathogens from cerebrospinal fluid (CSF)were analyzed,DNA from patients’CSF were performed PCR amplification and sequencing with universal primers of bacterial 16S rRNA and fungal 28S rRNA, PCR detection results were compared with CSF culture during the same period.Results A total of 400 patients were with confirmed or suspected bacterial or fungal infection of CNS,132 of whom were with positive CSF culture.150 pathogenic isolates were detected,including 48 isolates of gram-positive bacteria,90 gram-negative bacteria,and 12 fungi;the top three isolated bacteria were Acinetobacter baumannii (n =32 ),coagulase negative staphylococcus (n=16)and Klebsiella pneumoniae (n=13);the most common fungus was Cryptococcus neoformans (n=8).CSF from 88 infected patients and 20 non-infected patients were selected for PCR amplification,the sensitive of PCR am-plification assay was higher than the culture method (35.23% [31/88]vs 28.41 %[25/88],χ2 =4.17,P <0.05).

Objective To investigate the relationship between transforming growth factor gene (TGF) single nucleotide poly‐morphism (SNP) and multiple myeloma (MM) .Methods The case control study was performed ,55 patients with MM and 55 healthy controls were selected .The genotype and allele detections were performed by adopting the polymerase chain reaction (PCR) and the ligase detection reaction (LDR) respectively .Then the sequencing based typing was further conducted .Results There were no statistically significant differences in the two loci genotype frequencies ,allele frequencies and genotype frequencies in joint hap‐loid typing between the MM group and the control group(P>0 .05) .Conclusion SNP of TGF gene has no obvious correlation with the occurrence of MM and subtypes.

Objective To study the changes of the expression of growth associated protein -43(GAP 43) in cochlear nucleus and the inferior colliculus (IC) in rats after unilateral cochlear damage at different time points after surgery ,and explore the remodeling and repair process of synapse in brainstem auditory center of rats after auditory deprivation .Methods Thirty rats were randomly divided into six groups :the 3 ,7 ,15 ,30 ,60 days group (with u-nilateral cochlea damage) and the control group (without cochlea damage) with 5 rats in each group .The immuno-histochemical SP method was used to detect the expression of GAP -43 in cochlear nucleus and inferior colliculus at different time points after cochlea damaged in the control group .Results After the unilateral cochlear ear was dam-aged at 3 ,7 ,15 days ,GAP -43 in operation side cochlear nucleus were expressed and the expression level signifi-cantly increased compared with normal control group .After 30 days postoperatively ,GAP - 43 expression level decreased ,but it was still higher than normal control group .After 60 days postoperatively ,GAP - 43 expression level was slightly higher than that of normal control group .After 3 days postoperatively ,GAP - 43 expression level was higher than normal control group .After 7 ,15 days postoperatively ,expression levels were increased .After 30 , 60 days postoperatively ,the expressions gradually decreased ,but still higher than the normal control group .Conclusion After unilateral cochlea damaged ,GAP - 43 was expressed an obvious dynamic change process in cochlear nucleus and infe-rior colliculus .It may reflect the axonal regeneration and synaptic plasticity after hearing loss in brainstem auditory neurons .

Objective:To compare the personal characteristics between the patients with paradoxical insomnia and the patients with primary insomnia or the normal sleepers.Methods:A case-control study with the proportion at 1∶1∶1 was carried out.The patients with paradoxical insomnia were diagnosed in Sleep Medicine Center of West China Hospital of Sichuan University between March 2013 and December 2013.A case of paradoxical insomnia was matched with two controls:a primary insomnia patient and a normal sleeper.A total of 63 matched cases were collected.A face-to-face survey was conducted by using the following scales:General Data Scale and Eysenck Personality Questionnaire (EPQ).Results:The average scores of psychoticism,extraversion,and neuroticism for paradoxical insomnia cases were (52.1±10.2),(49.6±9.8),and (56.0±12.0),respectively.In general,31.7% of paradoxical insomnia patients had psychoticism or psychoticism tendency in their personality,which were more obvious than those in primary insomnia patients (7.9%) (x2=l 1.228,p<0.0125) and normal sleepers (0) (X2=23.774,P<0.0125).Moreover,19.0% of paradoxical insomnia patients had extroversion or extroversion tendency in their personality,which were more significant than those in primary insomnia patients (3.2%) (Z=-4.047,P<0.0125) but less obvious than those in normal sleepers (60.3%) (Z=-4.754,P<0.0125).Also,46.0% of paradoxical insomnia patients had neuroticism or neuroticism tendency in their personality,which were more significant than those in normal sleepers (0) (x2=37.670,P<0.0125) but similar to those in primary insomnia patients (52.4%) (x2=0.508,P>0.0125).Conclusion:The personal characteristics for paradoxical insomnia patients did not reached obviously abnormal level.However,their psychoticism tendency,extroversion tendency and neuroticism tendency needed to be paid attention.

Objective To investigate the effect of multidisciplinary physician/nurse collaboration care mode in diagnosis and treatment of elderly patients with intertrochanteric fracture.Methods Clinical data of 433 elderly patients with intertrochanteric fracture treated from August 2011 to September 2013 were studied retrospectively.Among them,136 were diagnosed and treated using conventional methods (control group) and 297 using the multidisciplinary physician/nurse collaboration approach (collaboration group).Hospital stay,surgery rate,time from hospitalization and operation,and complications were compared between the two groups.Results Length of hospital stay [(14.8 ± 5.9) d] in collaboration group was not statistically different from that in control group [(16.0 ± 4.7) d,t =0.433,P ＞ 0.05],but surgery rate was improved (72.8％ vs 83.9％,x2 =7.212,P ＜ 0.05),time from hospitalization and operation shortened [(5.6 ± 2.9) d vs (6.9 ± 3.4) d,t =3.096,P ＜ 0.05],and perioperative complication rate reduced in collaboration group compared to control group (all P ＜ 0.05).Conclusion Multidisciplinary physician/nurse collaboration mode is a novel method for diagnosis and treatment of intertrochanteric fracture in the elderly and is associated with improved surgery rate,reduced perioperative complications and early functional recovery.

AIM: To observe the dynamic changes of myocardial collagen metabolism in pressure-overloaded rats.METHODS: The pressure-overloaded rat model was established by partial abdominal aortic coarctation.The rats underwent surgery but not constrictive were used as sham-operated control group.The rats were euthanized at 3, 4, 8 and 12 weeks.The body mass, heart mass and left ventricular mass were weighed, and the heart mass index (HMI) and left ventricle mass index (LVMI) were calculated.Masson trichrome staining was used on the myocardial sections, alkaline hydrolysis was used to detect the content of myocardial hydroxyproline (HYP), and the serum levels of procollagen type I carboxy-terminal peptide (PICP), procollagen type III amino-terminal peptide (PIIINT), and collagen C telopeptide type I (CTX-I) were also measured.RESULTS: Compared with sham-operated control group, the collagen deposition was evident, and collagen volume fraction (CVF) was increased significantly in model group (P<0.01), which further increased over time.HMI, LVMI and HYP significantly increased in model group (P<0.05), and HYP showed a tendency to increase over time.In addition, the serum concentration of PICP was increased significantly in model group, and the difference was significant at 4, 8 and 12 weeks (P<0.05).The serum concentration of PIIINP was increased significantly, but CTX-I was lowered significantly in model group (P<0.01).CONCLUSION: In the state of pressure overload, myocardial collagen metabolism is in disorder, and myocardial fibrosis is the major pathological change, which further increases over time.

ObjectiveTo evaluate the efficacy and safety of spironolactone in treatment NYHA (New York Heart Association) class Ⅰ - Ⅱ heart failure patients. MethodsEighty eight patients with NYHA classⅠ- Ⅱheart failure were randomized to sprionolactone or placebo groups.Patients were assessed by echocardiography and 6-minute walking test (6MWT) ,plasma aldosterone and NT-proBNP were measured before and 6 months after treatment; serum potassium and creatinine were monitored through the study. ResultsThe E/A and E/E' in spironolactone group were significantly lower than those of control group (1.2±0.7 vs. 1.7±0.6, P=0.007;15.2±2.3vs. 17.7±3.0, P=0.000). No differences were observed in left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF)between two groups after treatment. Left ventricular mass index (LVMI) in spironolactone group decreased after theatment [(117 ±27) g/m2 vs.(112 ± 19) g/m2,P = 0.044]. Plasma aldosterone level in spironolactone group after treatment was significantly lower than that of control group [ ( 157 ± 16) ng/L vs.( 165 ± 16) ng/L, P =0. 021 ]. Although there were no differences in plasma NT-proBNP level between two groups after treatment, it decreased significantly comparing with that of before treatment ( P = 0. 000). No differences were observed in serum potassium and creatinine between two groups after treatment. However serum potassium and creatinine in spironolactone group increased significantly after treatment [ ( 83 ± 18 )pmol/Lvs. (87 ± 22) μmol/L, P =0.047; (4.4 ±0.4) mmoL/L vs. (4.5 ±0.6) mmol/L, P =0. 012]. ConclusionSpironolactone can alleviate cardiac remolding and diastolic function in NYHA classⅠ - Ⅱ heart failure patients.