Objective To detect mutations in the OSMR gene in 2 Chinese families with familial primary cutaneous amyloidosis (FPCA),and to analyze their relationship with clinical manifestations.Methods Clinical data were collected from 2 families with FPCA,and genomic DNA was extracted from peripheral blood samples.PCR was performed to amplify 18 exons and their flanking sequences of the OSMR gene followed by DNA sequencing in 2 probands and their family members.One hundred healthy individuals served as controls.Results In the first family,a heterozygous mutation (c.2081C ＞ T) in exon 15 of the OSMR gene,which leads to a codon change at amino acid position 694 (p.P694L),was identified in the proband,as well as in the other 4 patients.In the second family,a heterozygous mutation (c.1538G ＞A) in exon 11 of the OSMR gene,which causes a codon change at amino acid position 513 (p.G513D),was identified in the other proband and her mother,suggesting the cosegregation of the gene mutation with the disease.None of the above mutations were detected in the healthy family members or controls.Conclusion The heterozygous mutations p.P694L and p.G513D in the OSMR gene may be associated with primary cutaneous amyloidosis.

Objective To analyze the relationships between body mass index (BMI), blood pressure and the cerebral vascular function in middle-aged population that underwent health checkup. Methods Participants from health management centers of Renmin Hospital of Hubei province, the Second Hospital Affiliated to Nanhua University, Hospital of Shandong Electric Power and Chinese People's Liberation Army No. 180 Hospital aged 45 to 64 years were selected from health checkup population by cluster sampling. Levels of height, weight and blood pressure as well as the cerebral hemodynamics were checked. Subjects were grouped according to age, BMI, systolic and diastolic blood pressure. The differences and distribution of cerebrovascular function scores (CVFS) between groups were compared and described. Moreover, the risk of stroke in the population was evaluated. Results Of the 17 258 individuals who met inclusion criteria, the abnormal rate (the score below 75 points) of CVFS was 20.9 percent. The CVFS in normal, overweight and obese groups were 91.0±15.4, 83.3±21.3, 70.3±26.5 and differences in all age groups were statistically significant (P<0.01). The CVFS in systolic blood pressure<120,120-139, 140-159,≥160 mmHg (1 mmHg=0.133 kPa) groups were 93.9±12.9, 86.5±18.9, 72.1±23.5, 56.2±25.7 and differences in all age groups were statistically significant (P<0.01). CVFS in normal diastolic pressure<80, 80-89, 90-99,≥100 mmHg groups were 91.0±16.1, 85.5±20.2, 75.4±23.6, 62.7±25.0 and the differences among all age groups were statistically significant (P<0.01). Conclusions The abnormal rate of cerebrovascular function integral and high risk stroke individuals in middle-aged health checkup people was approximately 21 percent. The overweight, obese and the high level of systolic and diastolic pressure may induce the injury of cerebrovascular function and the severity will increase with the level of BMI and blood pressure.

Objective To explore the vitamin D nutritional status of urban residents in Jinan,in order to provide the basis for the prevention and treatment of chronic diseases associated with vitamin D insufficiency.Methods 1478 cases aged 30-90 years,including 602 men (59.8± 13.0) years on average and 876 women (57.4±12.9) years on average were selected by a stratified random sampling from 3 community medical care institutions in Jinan.Subjects were divided into six groups according to the 10-year interval.Serum 25-hydroxyvitamin D [25(OH) D] level was measured by enzyme-linked immunosorbent assay (ELISA).Serum [25(OH) D] level ≥ 75 nmol/L was defined as vitamin D sufficient,(50.0 ～ 74.9) nmol/L as vitamin D critical value,25.0 ～ 49.9 nmol/L as vitamin D insufficiency,＜ 25 nmol/L as vitamin D deficiency.All data processing and statistical analysis were finished by SPSS 13.0.Results The average level of [25 (OH) D] was 58.60 nmol/L in males [95％ CI:56.7-60.5 nmol/L] and 54.17 nmol/L in females [95％ CI:52.8-55.8 nmol/L],which were less than 75 nmol/L.The average level of [[25(OH) D] was 49.1nmol/L in females aged 70-79 years (95％CI:45.7～52.5 nmol/L),41.7 nmol/L in females aged 80-90 years (95％CI:38.2 ～46.7 nmol/L),which were less than 50 nmol/L.The percentage of cases with vitamin D deficiency,insufficiency,critical value,and sufficiency was 5.6％,33.4％,36.5％,24.4％ in males,and 6.5％,42.9％,32.6％,18.1％ in female respectively.The incidence of vitamin D deficiency and insufficiency was increased with ageing (male:x2 =33.68 P＜0.01,female:x2 =55.7,P＜0.001).The percentage of vitamin D deficiency and insufficiency was more in females than in males (60-69 years old:x2=9.387,P＜0.05,80-90 years old:x2=8.896,P＜0.05).The [25 (OH) D] level was lowest in winter (48.8 nmol/L,95％CI:46.8～50.9 nmol/L) and highest in autumn (60.2 nmol/L,95％ CI:58.0～62.3 nmol/L).The incidence of vitamin D deficiency and insufficiency was highest in winter (x2 =18.364,P＜0.05).Conclusions Vitamin D deficiency and insufficiency are widely prevalent in urban residents,which is more severe in the elderly and females.Serum [25(OH) D] level is related to season,and the vitamin D deficiency and insufficiency are severe in winter.

Objective To explore the optimal b value in MR DWI for breast.Methods Forty patients with palpable masses of breasts underwent MR and DWI at b = 1000, 800 and 600 s/mm2 before surgery according prospective planning. Visual assessment, signal to noise ratio (SNR) of DWI and the ADC values of benign and malignant lesions were compared among three b values using one-way ANOVA test.The diagnostic value of ADC were analyzed by ROC curves.Results Of the 40 patients, there were 26 patients with malignant lesions and 14 patients with benign lesions verified by histopathology.36 patients with 42 lesions were examined by DWI, and detectabilities at three b values were alike.Most DWI at b = 1000, 800 and 600 s/mm2 were of high quality, and images of grade A were 75.0% (30/40), 77.5% (31/40) and 77.5% (31/40), respectively.Mean SNR at b = 1000, 800 and 600 s/mm2 were 63 ± 22,82 ± 27 and 96 ± 29 respectively.Compared with one another, there was statistically significant difference (P <0.01).Mean ADC of benign lesions at different b values were (1.44 ± 0.28) × 10-3, (1.50 ± 0.32) × 10-3 and (1.52±0.29) × 10-3 mm2/s respectively. Compared with one another, there was no statistically significant difference (P = 0.725).Mean ADC of malignant lesions were (1.00 ± 0.25) × 10-3, (0.98 ± 0.19) × 10-3 and (1.07 ± 0.22) × 10-3 mm2/s respectively.Compared with one another, there was also no statistically significant difference (P = 0.358).The area under the ROC curves at b = 1000,800 and 600 s/mm2 were 0.879,0.885 and 0.865 respectively.Threshold value to distinguish benign and malignant lesions were 1.295 × 10-3,1.435×10-3 and 1.335×10-3 mm2/s respectively.Sensitivity of diagnosing breast cancer were 80.0%, 92.0% and 84.0%, and specificity were all 90.0% . Positive predictive values were 95.2%, 95.8% and 95.5% at b = 1000, 800 and 600 s/mm2.Conclusion Combining SNR and the value of ADC in diagnosing benign and malignant breast lesions, the study indicated that b = 800 s/mm2 was the optimal b value in breast DWI.

Objective To investigate the correlation between the serum ferritin levels and the post-stroke depression (PSD). Methods From July 2014 to October 2015, the inpatients with the first-ever acute ischemic stroke were colected consecutively. Chemiluminescence microparticle immune assay was used to measure the serum ferritin levels within 24 h after admission. Depressive symptoms were screened by using the 17-item Hamilton depression scale (HAMD-17) at 3 months after onset. In patients with a HAMD-17 score ≥7, the depression was further diagnosed according to The Diagnostic and Statistical Manual of Mental Disorders, 4th edition. Results A total of 200 patients with the first-ever acute ischemic stroke were enroled, 55 (27. 5% ) of them were diagnosed as PSD. There were significant differences in the body mass index (BMI), years of education, waist circumference, high sensitive-C-reactive protein, homocysteine, National Institutes of Health Stroke Scale score (at baseline, discharge, and day 90), mRs score (at discharge and day 90), BI (at discharge and day 90), and the proportions of widowed or solitary patients between the PSD group and the non-PSD group (al P < 0. 05 ). The serum ferritin level in the PSD group was significantly higher than that in the non-PSD group ( median [ interquartile range], 261. 90[142. 10-364. 90] μg/L vs. 164. 40[132. 50- 195. 10] μg/L; Z = - 4. 814, P < 0. 001 ). Multivariate logistic regression analysis adjusted for confounding factors showed that the baseline serum ferritin level >136. 375 μg/L was an independent risk factor for PSD (odds ratio 1. 041 per 1-quartile increase, 95%confidence interval 1. 009-1. 239; P = 0. 045). Conclusions The elevated baseline serum ferritin level is associated with PSD.

Cellular fibronectin (cFn) is a type of bioactive non-collagen glycoprotein regarded as the main substance used to maintain periodontal attachment. The content of cFn in some specific sites can reflect the progress of periodontitis or peri-implantitis. This study aims to evaluate the expression of cFn messenger RNA (mRNA) in tissues of adult periodontitis and peri-implantitis by real-time fluorescent quantitative polymerase chain reaction (PCR) and to determine its clinical significance. A total of 30 patients were divided into three groups of 10: healthy, adult periodontitis and peri-implantitis. Periodontal tissue biopsies (1 mm×1 mm×1 mm) from each patient were frozen in liquid nitrogen. Total RNA was extracted from these tissues, and the content, purity and integrity were detected. Specific primers were designed according to the sequence, and the mRNA expression levels of cellular fibronectin were detected by real-time PCR. The purity and integrity of the extracted total RNA were both high, and the specificity of amplified genes was very high with no other pollution. The mRNA expression of cFn in the adult periodontitis group (1.526±0.441) was lower than that in the healthy group (3.253±0.736). However, the mRNA expression of cFn in the peri-implantitis group (3.965±0.537) was significantly higher than that in the healthy group. The difference revealed that although both processes were destructive inflammatory reactions in the periodontium, the pathomechanisms were different and the variation started from the transcription level of the cFn gene.
Adult ; Alveolar Bone Loss ; metabolism ; Female ; Fibronectins ; analysis ; genetics ; Gingiva ; metabolism ; Humans ; Male ; Middle Aged ; Peri-Implantitis ; metabolism ; Periodontal Attachment Loss ; metabolism ; Periodontal Index ; Periodontal Pocket ; metabolism ; Periodontitis ; metabolism ; Periodontium ; metabolism ; RNA, Messenger ; analysis ; Real-Time Polymerase Chain Reaction ; Transcription, Genetic ; genetics ; Young Adult

To analysis the differences between Tripterygium wilfordii and T. hypoglaucum, specimens of their leaves were collected from five production regions and analyzed by ultra performance liquid chromatography coupled with quadrupole time of flight mass spectrometry (UPLC-Q-TOF-MS). The data were analyzed by multivariate statistical method, such as hierarchical cluster analysis (HCA) principal component analysis (PCA) and orthogonal signal correction partial least square discrimination (OPLS-DA). Potential markers with VIP values above 5.0 and corresponding r values above 0.85, were selected and further tested by combining mann-Whitney nonparametric. Those with P < 0.001 and AUC = 1 were confirmed as metabolite markers to discriminate them from each other. Results revealed that the two species were obviously different in their leaf metabolites. Based on their mass spectra, 23 potential metabolite markers were identified to distinguish T. wilfordii from T. hypoglaucum.
Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; chemistry ; metabolism ; Mass Spectrometry ; Molecular Structure ; Plant Leaves ; chemistry ; metabolism ; Tripterygium ; chemistry ; classification ; metabolism

Objective To investigate the clinical effect of mild hypothermia on neonatal bilirubin encephalopathy, and the value of 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/CT and amplitude integrated electroencephalogram (aEEG) for diagnosis and evaluation of curative effect. Methods From May, 2013 to December, 2014, 29 newborns with bilirubin encephalopathy were divided into conventional group (n=15) and mild hypothermia group (n=14). The conventional group received conventional therapy, and the other group received mild hypothermia in addition. The aEEG and neuron-specific enolase (NSE) were measured before and after treatment, as well as the glucose metabolism rate with 18F-FDG PET/CT after treatment. Results The NSE was lower after treatment in both groups (t>9.670, P<0.001), and was lower in the mild hypothermia group than in the conventional group (F=46.146, P<0.001). After treatment, sleep-wake cycle (SWC), epileptiform activity and the degree of abnormality were obviously improved (P<0.05), and were better in the mild hypothermia group than in the conventional group (P<0.05). The cerebral glucose metabolism rate was significantly better in the mild hypo-thermia group than in the conventional group (t>2.943, P<0.01). The cerebral glucose metabolism rate was negatively correlated with aEEG and NSE (r>0.640, P<0.05). Conclusion Mild hypothermia therapy could further promote the energy metabolism of brain cells in neonatal bilirubin encephalopathy. 18F-FDG PET/CT and aEEG can be used for early diagnosis and therapeutic evaluation.

Objective To evaluate the clinical value of hs-CRP,Tbil and BUA in the diagnosis of coronary atherosclerosis on 320 slice dynamic volume computed tomography(320-DVCT).Methods 160 patients with stable angina pectoris were included.All patients underwent 320-DVCT coronary artery imaging and laboratory testing including plasma hs-CRP,Tbil and BUA.The plaques of coronary artery were classified as soft plaque,fibrous plaque and calcified plaque on CT values.The three indicators were used to confirm the ability of diagnosis on number of lesions,plaque character and the degree of stenosis.100 healthy persons served as the control group.Results With the concentration of hs-CRP,BUA increased and Tbil concentration decreased,the number and the stenosis degree of coronary lesions became increased,and easier to form a soft plaque.Conclusion The hs CRP,Tbil and BUA can offer the accurate diagnosis of lesions number,plaque character and stenosis degree of the coronary artery,which is showed on 320-DVCT.The hs-CRP,Tbil and BUA are conducive to the risk assessment of coronary atherosclerosis.

Objective To investigate the curative effect of endoscopic thyroidectomy via breast areola approach.Methods The clinical data of 28 cases of endoscopic thyroidectomy via breast areola approach were retrospectively summarized.Results The mean diameter ofthe tumor Was 2.9(1.7～4.2)cm.The mean operative time Was 128(95～165) min.Pathologic data:adenoma in 15 cases,nodular goitar in 12 csses,papillary carcinoma indicated intraoperatively by frozen section in 1 case.One case occurred temporary hoarseness.No intraoperative and postoperative hemorrhea and convulsion after operation.Minor pain and discomfort in anterior chest continued for 7～19d in 18 cases,all without taking painkillers,satisfaction rate of beauty was 90 percent.Condusions Endoscopic thyroidectomy via breast areola approach is safe and feasible for patients with thyroid diseases,and has excellent cosmetic results.