Background Rhodopsin (RHO) gene is the most common disease gene for autosomal dominant retinitis pigmentosa (adRP),one of the main pathogenesis is that misfolded mutant RHO proteins accumulate in the endoplasmic reticulum and cause endoplasmic reticulum stress (ERS).Objective This study aimed to determine the genetic basis for a consanguineous Chinese Han adRP family.Methods This study procedure complied with Helsinki Declaration.All participants in the family were investigated under the informed consent.Regular ocular examination was performed on the patients in this family.Next-generation sequencing (NGS) was carried out to screen the mutations in 189 genes associated with hereditary retinal diseases (HRDs).After being analyzed and filtered,variations detected by NGS were validated by Sanger sequencing and evaluating of pathogenicity.The wild-type RHOWT and mutant RHOP53Rwere cloned into the vector pEGFP-N1.Then the two plasmids were transfected into adult retinal pigmentosa epithelium cell line(ARPE19) and human embryo kidney 293 line (HEK293) to observe the location of rhodopsin-GFP fusion protein in cells,and the expression of ERS related protein XBP1 in the cells was detected by quantitative-PCR and Western blot.Results This family included 5 generations with the typical adRP characteristics.Genetic analysis identified a heterozygous variation,p.P53R in RHO gene,which was fully cosegregated in the family.Wild-type RHOWT-GFP fusion proteins showed the green fluorescence on the endoplasmic reticulum and cytomembrane,but the misfolded mutant RHO-GFP fusion protein gathered only in endoplasmic reticulum.Compared to wild-type RHOWT,the XBP1 was activated and increased by (1.28 ±0.09) fold.The introns of 26 bases in XBP1 mRNA were removed in the HEK293 cells with mutant RHO-GFP fusion protein,and the expression of XBP1 was stronger in the HEK293 cells with mutant RHO-GFP than that in HEK293 cells with wild type RHO-GFP and cells with blank pEGFP-N1 plasmid.Conclusions Heterozygous variant RHO p.P53R is very likely the pathogenical mutation in the adRP family.The RHOP53R mutant rhodopsin protein can not be delivery effectively from the endoplasmic reticulum to the cell membrane,and these proteins accumulate in the endoplasmic reticulum,which causes ERS.

Circulatory state and metabolic homeostasis could be more easily disturbed during perioperative periods for children compared with those of adults especially when receiving massive transfusions.Patient's age would be an important factor for clinical evaluation if certain amount of blood was lost.Component transfusions have now gained wide recognitions.Specific blood components should be considered according to different diseases,which would make transfusion more accurate and blood resources used more efficiently.This article focused on the indications,doses and several specific issues for perioperative component transfusions among pediatric patients.

OBJECTIVE: To study the material basis of the tonifying effect of Radix Changii by observing its contents of nutrient elements. METHODS: The contents of vitamins in Radix Changii and inorganic elements in the water extracts of it were tested by high performance liquid chromatography, fluorescence spectrophotography and scanning electron microanalysis. RESULTS: Radix Changii contains fat-soluble vitamins E and K 259.2 and 64.1 microg/kg respectively, and water-soluble vitamins C, B1 and B2 78.5, 0.6 and 0.7 mg/kg respectively. Its decoction contains abundant potassium and calcium ions. CONCLUSION: Radix Changii is rich in elements necessary for human body. It has the material basis for tonification.

Traditional Chinese medicine considers that the final purpose of acupuncture treatment for disease is to harmonize yin and yang. Acupuncture redresses a balance between yin and yang by transmitting information to acupoints and then to corresponding visceral tissues and organs and the brain through the meridian system or the nervous system. In recent years, scholars at home thoroughly studied heart rate variability (HRV) analysis for acupuncture treatment of diseases and found that the regulating effect of acupuncture on visceral organs was closely related to autonomic nerves and acupuncture could restore a balance between sympathetic and parasympathetic nerves. Many scholars explored the effect of acupuncture on diseases related to autonomic nervous dysfunction by HRV frequency domain or time domain analysis and gained a certain achievements. This article summarizes recent years’ domestic studies on HRV-based analysis of acupuncture for diseases with autonomic nervous dysfunction and reviews the close relationship between autonomic nerves and diseases and the related mechanism of acupuncture action.

Objective To explore different socio-demographic and clinical characteristics for early onset patients (EOP) with psoriasis and late onset patients (LOP) with psoriasis in Chinese population and to provide scientific evidences for establishing comprehensive prevention and treatment strategy for psoriasis.Methods Cross-sectional study was performed.A total of 942 diagnosed psoriasis patients who paid a visit to outpatient clinic in a tertiary hospital in China from 12th September 2013 to 19th May 2015 was consecutively enrolled and investigated.Exploratory analysis was conducted to detect the association between disease onset age and patients features.Results Among 942 enrolled psoriasis outpatients,the average age was (40.6 ± 13.6) years with a range from 5 to 80 years.The sex ratio was 2.1 in favor of male.The most observed type of psoriasis in the present study was psoriasis vulgaris (98.3％).The average psoriasis area and severity index (PASI) for patients were 9.47 ±7.63.Comorbidity was combined in 20.2％ cases.Patients with EOP had a significantly higher likelihood of family history of disease.Compared EOP to LOP,LOP had a significantly higher likelihood of comorbidities involvement (P ＜ 0.05) and significant higher BMI index (P ＜ 0.05).Conclusions The present study supports the hypothesis that there are clinical differences between EOP and LOP in Chinese population.Both dermatologists and patients should pay more attention to psoriasis-associated features,such as family history and comorbidity diseases involvements.

Objective To explore the clinical diagnostic value of 18 F-FDG PET/CT in patients with kidney neoplasms.Methods Seventy-nine patients (52 males,27 females,average age (57.3 ± 14.1) years),who had definitive diagnosis of kidney neoplasms by 18F-FDG PET/CT and pathological or clinical comprehensive diagnosis in recent five years,were analyzed retrospectively.The diagnosis by PET/CT was made according to the changes of kidney shape,tumor density and FDG uptake (SUVmax).The diagnostic efficacy was calculated.Results Among the 79 patients,70 cases were finally diagnosed as malignant tumors (including 40 cases of renal cell carcinoma,5 cases of renal pelvis carcinoma,8 cases of lymphoma,16 cases of metastatic tumor,and 1 case of renal fascia capsule liposarcoma) and 9 cases of benign tumors (including 7 cases of angiomyolipomas,1 case of renal acidophilic cell adenoma,1 case of metanephric adenoma; the benign tumors did not contain small lipid sample hamartoma cases).The detective rate of kidney neoplasms with 18F-FDG PET/CT was 97.5％ (77/79).For the identification of benign and malignant lesions,the sensitivity of 18F-FDG PET/CT was 92.9％ (65/70),specificity was 7/9,accuracy was 91.1％ (72/79),positive predictive value was 97.0％ (65/67),and negative predictive value was 58.3 ％ (7/12).Conclusions 18 F-FDG PET/CT can detect and identify most of kidney tumors.Whole-body checking and comprehensive evaluation on kidney cancer patients are still the main advantages of PET/CT.

Objective To investigate the distribution of hepatitis B virus (HBV) genotypes in patients with chronic HBV infections and the correlations of genotypes with liver fibrosis and hepatocellular carcinoma (HCC).Methods Serological,virological and pathological data of 190 patients with chronic HBV infections admitted to Hangzhou First People's Hospital during June 2007 and June 2012 were retrospectively analyzed.The series included 62 cases of chronic hepatitis B (CHB),60 cases of liver cirrhosis and 68 cases of HCC.HBV was genotyped by multiplex PCR,and subgenotyped by restriction fragment length polymorphism (RFLP).SPSS 11.0 was used for statistical analysis.Results Among 190 patients,61 were HBV genotype B (32.1％),126 were genotype C (66.3％),and 3 were B + C hybrid.HBV B2 (61/61,100.0％) and C2 (123/126,97.6％) were the major subgenotypes.HBV genotype B was more prevalent in CHB patients (46.8％,29/62) than in liver cirrhosis (20.0％,12/60) and in HCC patients (29.4％,20/68) (x2 =8.73 and 4.16,P＜0.01 or P＜0.05),whereas the prevalence of genotype C was higher in liver cirrhosis and HCC than that in CHB (x2 =9.54 and 4.17,P ＜0.01 or P ＜ 0.05).Patients with genotype C2 had higher serum hyaluronic acid level than with genotype B2 in 3 groups (t =2.685,2.433 and 2.015,P ＜ 0.01 or P ＜ 0.05).CHB patients with C2 infections had higher liver fibrosis grade than those with B2 (x2 =6.726,P =0.010),while there was no statistical difference in liver inflammation grade (x2 =0.601,P ＞ 0.05).HCC patients with B2 infection tended to have larger tumor diameter (≥5 cm) (x2 =7.231,P ＜ 0.01) and those with C2 infection were prone to be more serious cirrhosis (x2 =4.910,P ＜ 0.05).Conclusions HBV genotypes C2 and B2 are predominant in patients with chronic HBV infections in Hangzhou.HCC patients infected with HBV C2 may be complicated with more severe liver fibrosis,and those with HBV B2 infections may tend to have larger liver tumor.

Objective To improve the accuracy of X-ray diagnosis of the deltoid ligament injury by evaluating the influence of plantar flexion on the diagnosis.Methods Twenty-four patients with ankle supination-extemal rotation fracture which was distal fibula fracture but no medial malleolus fracture were treated from February 2010 to December 2010.All the patients were taken Mortise radiograph with the ankle in four positions of plantar flexion(0°,15°,30° and 45°)applied with rotational stress and the deltoid ligament injury was identified with MRI.The medical clear space(MCS)and the superior clear space(SCS)on each radiograph were measured.The results were tested by a one-way analysis of variance model(ANOVA),based on the following criteria:(1)the MCS≥ 4 mm and MCS ＞ SCS,or when MCS≥5 mm and MCS ＞SCS.The MRI examination was taken as the gold standard to compare the influence of X-ray diagnosis of the deltoid ligament injury with different plantar flexions and different standards.Results The average MCS in four positions of plantar flexion(0°,15°,30°,and 45 °)with rotational stress were(4.10 ±0.79)mm,(4.55 ±0.72)mm,(4.99 ±0.56)mm and(5.71 ±0.86)ram,with statistical difference(P ＜0.05).The average SCS in four positions of plantar flexion(0°,15°,30°,and 45°)were(3.56 ±0.41)mm,(3.50 ±0.43)mm,(3.71 +0.44)mm and(3.93 ±0.51)mm,with no statistical difference in the four groups(P ＞0.05).With the MSC≥4 mm and MSC ＞ SCS as the diagnostic criteria,the prevalence of false-positive findings of deltoid injury based on the ratio with the four positions of plantar flexion(0°,15°,30° and 45°)were 50.0％,66.7％,88.9％ and 94.4％ respectively.With the MSC≥5 mm and MSC ＞SCS as the diagnostic criteria,the prevalence of false-positive findings of deltoid injury based on the ratio with the four positions of plantar flexion(0°,15°,30° and 45°)were 5.6％,11.1％,38.9％ and 77.8％ respectively.Condusions Different plantar flexion angle is an important factor for X-ray diagnosis of deltoid ligament injury of the ankle joint.The prevalence of false-positive findings of deltoid injury increases with the increase of plantar flexion.

Animals ; Brain ; pathology ; Hydroxyproline ; metabolism ; Kidney ; pathology ; Liver ; pathology ; Lung ; metabolism ; pathology ; Male ; Paraquat ; metabolism ; poisoning ; Rats ; Rats, Wistar

Low back pain is an important cause of disability worldwide. It has a high incidence rate and brings a huge burden to families and society. Intervertebral disc degeneration (IDD) is one of the leading factors causing low back pain and the pathological basis of degenerative disc diseases, such as intervertebral disc herniation and spinal stenosis. However, the etiology of IDD is complex, and the risk factors and specific mechanisms behind remain unclear. Some controversial views have also been observed. Surgery is often considered for patients with severe intervertebral disc diseases, but there is no effective treatment for IDD at the early and middle stages. It will be of great significance to in-depth explore the molecular biological mechanisms and related risk factors, which can bring benefits to the prevention, accurate diagnosis, early treatment, and rehabilitation of degenerative disc diseases. Refer to the literatures published in the past ten years, this paper describes the latest research progress on risk factors related to IDD in terms of aging, genetics, mechanical loading, low-grade infection, biological rhythms, smoking, metabolic disease, estrogen, and nutrition. The results show that IDD is affected by multiple risk factors. These factors can interact with each other, and lead to death, phenotypic transformation, and metabolic disorder of disc cells, leading to a reduction of extracellular matrix and an unbalanced microenvironment and eventually loss of structural integrity of intervertebral disc tissue and IDD. A good body clock, a controlled weight, an appropriate blood glucose level, adequate nutrition, no smoking, a good hormone level, moderate exercise, avoiding injury, and strict aseptic techniques in the clinic will bring benefits to the progress of IDD.