Objective:To explore the clinical manifestations of 4 pedigrees with transthyretin related familial amyloid polyneuropathy (TTR-FAP).Methods:The clinical data were collected and analyzed from 4 pedigrees with TTR-AFP, admitted to our hospital from July 2017 to May 2019; 20 patients and 2 asymptomatic carriers of the TTR mutation gene were included. In particular, the detailed data of the 4 probands affected with TTR-FAP came from the 4 different pedigrees were collected. Results:In these 20 patients, the age of onset ranged from 30 to 65; the first symptoms of diarrhea, constipation, alternating episodes of constipation and diarrhea were found; there were damaged peripheral nerve and inexplicable weight loss; cardiomyopathy was noted in 9 patients; orthostatic hypotension was noted in 9 patients, sexual dysfunction in 5, abnormal urination in 6, and blurred vision or corestenoma in 3. TTR mutation gene was confirmed in 7 patients and pathological diagnosis was found in 3 patients. Diflunisal was used in one patient and tafamidis was used 2 patients. Twelve died and 8 patients survived among 20 patients with disease progression. All the 4 probands were male, with an average age of 49.3 years; all patients had different degrees of sensorimotor peripheral neuropathy, autonomic neuropathy and cardiomyopathy; electrophysiological examination suggested length dependent sensory motor peripheral neuropathy of the extremities, with axonal damage as the evidence; and cardiac hypertrophy was noted in echocardiography. The sural nerve biopsy of the 3 probands showed positive Congo red staining. Medical whole exon sequencing indicated that 2 probands had pathogenic mutations (TTR-E74K and TTR-A140S), and 1 proband had likely pathogenic mutation (TTR-S70R). Two asymptomatic carriers of the TTR gene mutation remained normal condition. Conclusion:The clinical manifestations of TTR-FAP include progressive sensorimotor and autonomic neuropathy, and multi-system disorders, such as combining with gastrointestinal problems, hypertrophic myocardium, inexplicable weight loss and blurred vision or corestenoma, which might be important reminders for diagnosis of TTR-FAP.

Objective:To explore the value of three-dimensional speckle tracking imaging (3D-STI) in the diagnosis of immunoglobulin light-chain cardiac amyloidosis(AL-CA) patients with normal left ventricular ejection fraction (LVEF).Methods:A total of 92 consecutive patients diagnosed with systemic immunoglobulin light chain amyloidosis(sAL) and with normal LVEF from October 2014 to January 2018 in Xijing Hospital were enrolled.Based on the diagnostic criteria of cardiac involvement, the patients were divided into AL-CA group (52 cases) and immunoglobulin light chain amyloidosis (AL) group (40 cases). The clinical data and serological markers of the patients were collected, the conventional echocardiography and full-volume three dimensional dynamic images were acquired, left ventricular global longitudinal strain (GLS), global radial strain (GRS), global circumferential strain (GCS), and global area strain (GAS) were analyzed using off-line TomTec software. The differences between the two groups were compared.Results:Compared with the AL group, the NT-proBNP of AL-CA group was significantly higher ( P<0.05) and there were no significant differences of the other serological indexes between the two groups(all P>0.05). Compared with the AL group, the maximal left ventricular wall thickness, left ventricular mass index, left atrial volume index, and E/e′ in the AL-CA group were significantly increased (all P<0.05). There were no significant differences of other conventional echocardiographic measurements between the two groups(all P>0.05). Compared with the AL group, GLS, GAS, and GRS were significantly lower in AL-CA group (all P<0.05); but there was no significant difference of GCS between the two groups( P>0.05). The ROC curve analysis showed that the cut-off values discriminating cardiac involvement were 16.09% for GLS, 36.54% for GAS and 31.90% for GRS. Conclusions:3D-STI measurements of left ventricular myocardial mechanics could detect cardiac involvement in patients with sAL amyloidosis, and provides a new method for diagnosis of AL-CA.

Objective:To assess the feasibility of delayed-enhancement MRI in contouring the lumpectomy cavity (LC) for patients with invisible seroma or a low cavity visualization score (CVS≤2) in the excision cavity after breast-conserving surgery (BCS).Methods:Twenty-six patients with stage T 1-2N 0M 0 who underwent prone radiotherapy after BCS were recruited. The LC delineated on CT simulation images was denoted as LC CT. The LCs delineated on T 2WI, as well as on different delayed phases (2-, 5-and 10-minute) of delayed-enhancement T 1WI were defined as LC T2, LC 2T1, LC 5T1 and LC 10T1, respectively. Subsequently, the volumes and locations of the LCs were compared between CT simulation images and different sequences of MR simulation images using deformable image registration. Results:The volumes of LC T2, LC 2T1, LC 5T1 and LC 10T1 were all larger than that of LC CT. A statistical significance was found between the volume of LC CT and those of LC 2T1 or LC 5T1, respectively (both P<0.05). The conformal index (CI), degree of inclusion (DI), dice similarity coefficient (DSC) and the distance between the center of mass of the targets (COM) of LC CT-LC 10T1 were better than those of LC CT-LC T2, LC CT-LC 2T1 and LC CT-LC 5T1, however, there was no statistical difference among them (all P>0.05). Conclusions:It is feasible to delineate the LC based on prone delayed-enhancement MR simulation images in patients with low CVS after BCS. Meanwhile, the LCs derived from prone delayed-enhancement T 1WI of 10-minute are the most similar with those derived from prone CT simulation scans using titanium clips, regardless of the volumes and locations of LCs.

Objective:To understand the molecular characteristics and correlation among isolated strains of Brucella melitensis (BM) so as to improve the strategies on prevention and control of the disease in Jiangxi province. Methods:A total of 25 strains of BM isolated from human in 17 counties of Jiangxi province were analyzed by multiple locus variable-number tandem repeat analysis (MLVA) method.Results:A total of 25 strains of BM were classified into 24 independent genotypes with similarities between 67.00% and 100.00% and Simpson index between 0.000 and 0.773. There were 3 genotypes in MLVA8, including 60.00% (15/25) as 42 genotype, 32.00% (8/25) as 43 genotype, and 8.00% (2/25) as 63 genotype, respectively. There were 7 genotypes in MLVA11 identified, with 116 genotype and 125 genotype the main genotypes, accounting for 56.00% (14/25) of all the identified strains.Conclusions:Genes from all the 25 strains of BM that isolated from human being were with high genetic diversities, and various, genotypes. However, no obvious epidemiological correlation was noticed among these strains, indicating the complexity of the source of infection on Brucella in Jiangxi province.

Objective To explore the changes of left ventricular torsion function in patients with latent obstructive hypertrophic cardiomyopathy ( HCM ) ,and provide quantitative informations for clinical evaluation of cardiac function . Methods A total of 49 consecutive patients with HCM without left ventricular outflow tract obstruction at rest were enrolled . All subjects underwent exercise stress echocardiography . After exercise left ventricular outflow tract pressure gradient ( LVO T‐PG ) ≥30 mm Hg was positive for exercise stress test ( latent obstruction) ,w hile LVO T‐PG＜ 30 mm Hg was negative for exercise stress test ( non‐obstruction) . An ultrasound system obtained two‐dimensional ultrasound images of resting and moving peaks . The global longitudinal strain ( GLS ) ,global circumferential strain ( GCS ) , global radial strain ( GRS) of the left ventricle 16 segments and left ventricular rotation ,twist were analysis using off‐line EchoPAC software . T he differences of the above parameters were compared between the two groups . Results T here were no significant differences in GLS ,GRS ,GCS and Rotation‐B between the two groups in resting and peak period of exercise ( all P ＞ 0 .05 ) ,GRS in both groups were significantly increased compared with that before exercise ( all P ＜ 0 .05 ) . Compared with the negative exercise stress group ,the left ventricular twist and Rotation‐A were significantly increased in resting and peak period of exercise in the positive exercise stress test group( all P ＜0 .05) . Compared with before exercise ,Rotation‐A and left ventricular twist were significantly decreased in the positive exercise stress test group ( all P ＜0 .05) ,while no significantly difference was found in the negative exercise stress group ( all P ＞ 0 .05 ) . Conclusions Left ventricular torsion function is significantly changed in rest and after exercise in latent obstructive HCM patients ,providing valuable quantitative information for clinical comprehensive evaluation of cardiac function .

Objective: Previous cross-sectional studies suggested that elevated levels of total cholesterol content of erythrocyte membrane (CEM) could significantly increase the risk of acute coronary syndrome (ACS). The purpose of the present study was to assess the predictive value of baseline CEM levels for the risk of clinical endpoint events in patients with ACS through prospective follow-up studies. Methods: This study is a prospective follow-up study, which consisted of 859 patients with first ACS (698 patients with unstable angina pectoris and 161 patients with acute myocardial infarction), diagnosed and hospitalized in the First and Second Affiliated Hospital of Anhui Medical University. The routine blood lipid levels and CEM were measured. Patients were divided into two groups according to the median of baseline CEM: CEM≤131.56 μg/mg group (n=430) and CEM>131.56 μg/mg group (n=429). Patients were followed up at 6 months interval. The clinical endpoints were nonfatal myocardial infarction, nonfatal stroke, all-cause mortality, all-cause mortality, heart failure requiring hospitalization, and coronary artery revascularization. Kaplan-Meier curve analysis and Cox proportional hazard model were used to analyze the impact of elevated CEM on the occurrence of clinical end-point events. HR values and 95%CI of each variable were obtained. Cox regression analysis of all-cause mortality was performed according to whether patients had risk factors for coronary heart disease (hypertension, diabetes, smoking and elevated LDL-C) and whether they were treated with PCI. Results: The follow-up time was 1 640 (1 380, 2 189) days. Cox analysis after adjustment showed that an elevated baseline of CEM (>131.56 μg/mg) was associated with an increased risk of all-cause mortality (HR=1.690, 95%CI 1.041-2.742, P=0.034), but had no significant predictive effect on the other clinical endpoints. Subgroup analysis showed that elevated baseline CEM levels in ACS patients with LDL-C>1.8 mmol/L (HR=1.687, 95%CI 1.026-2.774, P=0.039), receiving in-hospital PCI (HR=2.365, 95%CI 1.054-5.307, P=0.037), or male (HR=1.794, 95%CI 1.010-3.186, P=0.046) were associated with an increased risk of all-cause mortality. Conclusion The results showed that elevated CEM levels can increase the risk of all-cause mortality in ACS patients.

Objective To measure the efficacy of combining motor imagery training ( MIT) with convention-al therapy in improving stroke patients′upper-extremity function. And to seek a cortical reorganization mechanism as-sociated with the improvement using resting-state functional magnetic resonance imaging ( rs-fMRI) . Methods Ten stroke survivors were selected as an experimental group. They were given motor imagery training for four weeks ( 30 minutes a day, 5 days a week) and conventional rehabilitation therapy ( 40 minutes a day, 5 days a week) . Another 10 healthy counterparts were the control group. Before and after the four weeks of treatment, both groups were as-sessed using the upper extremity Fugl-Meyer assessment ( FMA-UE) and the modified Barthel index ( MBI) . Moreo-ver, rs-fMRI was conducted to assess functional connectivity between cortical regions and the ipsilesional primary mo-tor cortex ( M1) before and after the intervention. The laterality index ( LI) of the primary motor or sensory cortex was also calculated. Results After the intervention, the average FMA-UE and MBI scores of the experimental group had increased significantly. After MIT and conventional therapy there was increased functional connectivity between the ip-silesional and contralesional M1 areas, and between the ipsilesional M1 and contralesional primary sensory cortex ( S1) and frontal lobe, the functional connection between the ipsilesional M1 and the ipsilesional paracentral lobule and the anterior cingutate was also increased. More specifically, the LI relating M1 and S1 decreased after the inter-vention, tending toward the normal level. LIMI decreased significantly. Conclusion The 4-week regimen of motor imagery training and conventional therapy resulted in functional improvement in the upper limbs and greater ability in the activities of daily living. The observed improvements may be due to cortical reorganization, including better func-tional connectivity between the bilateral M1 areas and increased connectivity between the ipsilesional M1 area and some non-motor areas. There is some recovery of symmetry in the bilateral primary motor cortex.

Objective To determine the contents of total flavonoids and xanthohumol in hop from 29 different countries and regions .Methods Rutin colorimetric method was used to determine the content of total flavonoids .HPLC-UV method was established for the determination of xanthohumol in hops .HPLC method was performed by Dikma Technologies Diamonsil C18 (250 mm × 4 .6 mm ,5 μm ) column with mobile phase acetonitrile-1％ glacial acetic acid solution at the flow rate of 1 .0 ml/min .The column temperature was 25 ℃ .The detection wavelength was 370 nm .Results The equation of linear re-gression of total flavonoids was A=30 .345C+0 .0168 ,r=0 .9999 .The equation of linear regression of xanthohumol was A=55446 C+9040 .5 ,r=0 .9999 .Their linear ranges were respectively 20 .2-404 .0 μg/ml ,2 .152-43 .040 μg/ml ,which indica-ted a good linear relationship .The RSDs of precision and repeatability were less than 2％ .The average recoveries of flavonoids and xanthohumol were respectively 102 .71％ and 100 .21％ .Conclusion The contents of total flavonoids and xanthohumol in different hops varieties are significantly different and the import hops was better than the domestic hops in this study .

Objective To investigate the application of colostomy care products in managing the leakage around PTCD drainage tube, and to discuss its clinical effect. Methods A total of 56 patients with malignant obstructive jaundice, who had received PTCD and suffered from postoperative leakage around PTCD drainage tube, were randomly and equally divided into the study group (n=28) and the control group (n=28). The colostomy care powder, the skin protective film and the colostomy bag were used for the patients of the study group, while iodophors, sterile gauze and mupirocin ointment were employed for the patients of the control group. The incidence of irritant dermatitis around PTCD drainage tube, the degree of comfort to the indwelling tube judged by the patient, and the nursing workload for PTCD drainage tube were determined, and the results were compared between the two groups. Results The incidence of irritant dermatitis around PTCD drainage tube in the study group was obviously lower than that in the control group. And the degree of comfort to the indwelling tube judged by the patient in the study group was much higher than that in the control group. The differences between the two groups were statistically significant (P<0.05). Conclusion Combination use of colostomy care powder, skin protective film and colostomy bag can effectively reduce the incidence of irritant dermatitis around PTCD drainage tube and improve the patient’s condition. Therefore, this method is worthy of popularization in clinical practice.

Brucella ; isolation & purification ; Brucellosis ; epidemiology ; China ; epidemiology ; Humans