A family with hyperinsulinemia caused by a novel mutation of SLC16A1 gene / 中华内分泌代谢杂志

Objective:Congenital hyperinsulinemia is a heterogeneous disorder characterized by severe hypoglycemia due to dysregulated insulin secretion. Sixteen genes have been reported to be associated with congenital hyperinsulinemia. In this study, whole exome sequencing was performed on a patient with obesity, hyperinsulinemia, and postprandial hypoglycemia to further explore its genetic etiology.Methods:The clinical data and peripheral blood of a patient with hyperinsulinemia and his family members were collected. Genomic DNA was extracted from the peripheral blood. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the mutation sites was analyzed by bioinformatics software.Results:The proband presented with obesity, hyperinsulinemia, and postprandial hypoglycemia, but without exercise-induced hypoglycemia. A heterozygous SCL16A1 gene c. 1259A>G(p.K420R) mutation was identified in the proband. Co-segregated analysis showed that the c. 1259A>G mutation was also found in his father and brother, who had obesity and hyperinsulinemia, which was consistent with autosomal dominant inheritance. The mutation c. 1259A>G was predicted to be pathogenic by the MutationTaster, FATHMM-MKL, PolyPhen2, and CADD programs, and has not been reported in HGDM database yet, which was considered to be a novel mutation.Conclusion:This study reported a patient with hyperinsulinemia caused by a new mutation of SCL16A1 gene, which expanded our understanding of the pathogenic mutation spectrum of hyperinsulinemia.

Three cases of congenital adrenal hypoplasia with hypogonadotropic hypogonadism due to novel NR0B1 mutation / 中华内分泌代谢杂志

Objective:To advance the understanding of X-linked adrenal hypoplasia congenita(XL-AHC)through genetic analysis.Methods:Genomic DNA was extracted from peripheral blood of three patients with XL-AHC and their family members as well. Pathogenic genes were screened with whole exome sequencing followed by Sanger sequencing and pedigree verification.Results:All three probands were diagnosed as primary adrenal insufficiency at early age and developed hypogonadotropic hypogonadism in adolescence. The proband 1 was hemizygous for c. 420delG(p.R141Gfs*123)mutation in exon 1 of NR0B1 gene. His mother was a heterozygous mutation carrier while his brother did not carry the mutation, which was consistent with the X-linked recessive inheritance. A hemizygous mutation c. 212_213delAA(p.K71Rfs*41)of NR0B1 gene was detected in both proband 2 and proband 3. These two novel mutations were not reported in HGMD database.Conclusions:In this study, two novel NR0B1 mutations, c. 420delG and c. 212_213delAA were identified in 3 patients with XL-AHC. For men with early onset of adrenocortical hypofunction, XL-AHC should be considered. Early genetic screening of NR0B1 gene is helpful for early diagnosis.

Automatic Segmentation of Anatomical Areas in X-ray Images Based on Fully Convolutional Networks / 中国医疗器械杂志

OBJECTIVE@#Medical image segmentation is a key step in medical image processing. An architecture of fully convolutional networks was proposed to realize automatic segmentation of anatomical areas in X-ray images.@*METHODS@#Enlightened by the advantages of convolutional neural networks on features extraction, fully convolutional networks consisting of 9 layers were designed to segment medical images. The networks used convolution kernels of various sizes to extract multi-dimensional image features in the images, meanwhile, eliminated pooling layers to avoid the loss of image details during downsampling procedures.@*RESULTS@#The experiment was conducted in accordance with the specific scene of X-ray images segmentation. Compared with traditional segmentation methods, this approach achieved more accurate segmentation of anatomical areas.@*CONCLUSIONS@#Fully convolutional networks can extract representative and multidimensional features of medical images, avoid the loss of image details during downsampling procedures, and complete automatic segmentation of anatomical areas accurately in X-ray images.

Using Parallel Convolutional Neural Networks for Treatment Position Recognition in X-ray Images / 中国医疗器械杂志

Treatment position recognition in medical images is a key technique in medical image processing. Due to the excellent performance of convolutional neural networks on features extraction and classification, an architecture of parallel convolutional neural networks is proposed to recognize treatment positions in X-ray images, which uses convolution kernels of different sizes to extract local features of different sizes in these images. The experimental analysis shows that parallel convolution neural networks, which can extract representative image features with more dimensions, are competent to classify and recognize treatment positions in medical images.

Comparison of values of iDose4 iterative reconstruction and filtered back projection reconstruction for coronary CT angiography / 医疗卫生装备

Objective To explore the value of iDose4 iterative reconstruction for coronary CT angiography (CCTA).Methods Totally 124 coronary heart disease patients underwent iDose4 iterative reconstruction and filtered back projection (FBP) reconstruction,of whom,56 ones with BMI not less than 20 kg/m2 were put into No.1 iteration group using 135 kV tube voltage and 68 ones with BMI less than 20 kg/m2 were into No.2 iteration group using 110 kV tube voltage.FBP reconstruction was executed with 110 kV tube voltage.Comparison analyses were carried out on signal noise ratio (SNR),contrast to noise ratio (CNR) and image quality.Results There were significant differences between the values of SNR,radiation dose and image quality in No.1 iteration group and FBP group (P＜0.05).Statistical differences were also found between the values of CNR and radiation dose in No.2 iteration group and FBP group,while there were no obvious differences between the values of SNR and image quality in the above two groups (P＜0.05).Conclusion Low-voltage iDose reconstruction gains advantages in radiation dose and image quality during 64-slice CCTA,and thus is worthy promoting clinically.

Application of inteins in building protein affinity purification system / 生物工程学报

Intein is a part of polypeptide in the premature protein with the capability of self-splicing, which is widely applied in protein purification, protein conjuction, cyclopeptide preparation, protein labeling and biosensor. In this review, we summarized the development of intein used in protein purification, discussed intein-mediated chromatographic and non-chromatographic purification systems, and summarized the researches in manipulating intein cleavage reaction. This work is to provide clues for improvement of intein-mediated protein purification.

CT manifestation of schistosoma haematobium cystitis / 中华放射学杂志

Objective To analyze CT manifestation of Schistosoma haematobium cystitis.Methods Retrospective analysis 32 patients,who were tested for Schistosoma haematobium cystitis using the urine filtration method.CT scan was performed for each patient with contrast enhancement.Results The vast majority of urinary tract schistomiasis lesions were in the urinary bladder.Calcification of the bladder wall was observed in all patients and mild enhancement in non calcified zone was found after intravenous contrast.Except for 5 patients of bladder cancer,the rest were no abnormality in size of bladder when bladder was filling or emptying.Ureteral wall annular calcification could also be identified in 25 patients.Twenty two patients were companied with ureteric hydronephrosis.Seminal vesicle calcification was seen in 4 patients among 11 male patients,while both uterine and ovarian in female and prostate in men had non calcification.Serious illness can be combined with bladder cancer.In 5 patients of patients with bladder cancer,bladder showed irregular soft tissue mass which was enhanced moderately after post-contrast scan,with vesical calcification in mass medially.Conclusion Bladder calcification is the most prominent CT feature of Schistosoma haematobium cystitis,which is useful in diagnosis the disease.

Analysis of different clinical features and mechanism of falciparum malaria in several patients between Chinese and Malian / 中华急诊医学杂志

Objective To investigate the clinical features and the mechanism of falciparum malaria in several patients between Chinese and Malian.Methods The data of Chinese (n =28) and Malian patients (n =35) including general condition,Glasgow Coma Scale (GCS),APACHE Ⅱ,the time of applying ventilator and days of stay in ICU,laboratory examination (plasmodium test,routine blood test,liver and kidney function and C-reactive protein (CRP) assayed before treatment and 1d,3d,7d after treatment,cranial computed tomography and mortality were recorded for investigating the clinical features of the disease.Results There was difference in age range between Chinese patients (ranged from 32 to 50 years old) and Malian patients (ranged from 8 to 72 years old),and difference in severity of the disease between patients of two countries was found and Malian patients were more severely infected than Chinese patients.The results of plasmodium test,routine blood test,liver and kidney function and level of CRP often varied greatly during the entire course of the disease,and the changes were greater in Malian patients.The correlation between APACHE Ⅱ and CRP was found (P ＜ 0.05).The cranial CT displayed ischemia focus in brain.The mortality of Chinese patients was 16.7％ and that of Malian was 25.0％.Conclusions There was difference in composition of residents between Chinese patients and Malian patients.Malian patients were more severely infected with Plasmodium falciparum than Chinese patients,and this difference might be due to the potential correlation between the disease virulence and immune response of patients.

The estimation of traceability and uncertainty of measurement on the result of HBV DNA with different detecting system / 中华检验医学杂志

Objective To study the uncertainty and traceability of HBV DNA assays and discuss the comparability of results among different detection systems. Methods Different detecting systems were used to detect HBV DNA using the national standard substance as "quality control substance". The uncertainty of the results was evaluated referring "Guidelines for estimating and reporting measurement uncerTAinty of chemical test results" of NATA The results were traced back to the national standard substance. According to the CLSI document EP9-A2, the results were analyzed and subjected to bias estimation with the t(0.05sv) √u2b1+ u2b2 as the criterion clinically accepted to investigate the comparability of different detecting systems. Results The means (-y) measured by 3 HBV DNA assay systems were 6.15,5.88,and 6.31 lg(kIU/L) respectively. Except system A,both the biases of system B and C had statistical significance (all P ＜ 0. 05) and expanded uncertainty of three detection systems was varied, but the difference was within the maximum acceptable range (± 0. 5) of the external quality assessment by National Center for Clinical Laboratory. Being traceable to national standard substance, the results of HBV DNA of the three detecting systems were (5.45 ± 1.23), (5.55 ± 1.32) and (5.42 ± 1.25) lg(kIU/L), respectively.There was significant difference among three systems (F = 5.63, P ＜ 0. 05). Comparing system A and B,there was significant difference in statistic (q = 5. 12, P ＜ 0. 05) and the difference between system B and C also had statistically significant (q = 6. 85, P ＜ 0. 05), but the results between system A and C had no statistical difference (q = 1.85,P ＞ 0. 05). Among these three systems, the difference of any two detection systems had no statistical significance (all P ＞ 0. 05). It showed that system bias was acceptable in clinical application and the results between different systems were comparable. Conclusions It is necessary to estimate the uncertainty and traceability when comparing the HBV DNA assay among the different labs. It also needs to estimate the bias of different systems and evaluate the clinical acceptability to ensure the accuracy and comparability of the results.

Isolation of a methane-utilizing Klebsiella sp. strain and its application for detecting methane / 生物工程学报

We have isolated a strain C611 that used methane as the sole carbon sources for growth from paddy soil in Taiyuan of Shanxi province. Based on the physiological characteristics and 16S rDNA sequence analysis, we identified the strain as Klebsiella sp.. We used statistic-based experimental design (RSM) to optimize the culture conditions for C611 strain. The optimum conditions were as follows: temperature of 24.4 degrees C, inoculum volume of 6.7% and methane content of 25%. We studied the response time and the relationship between consumption of dissolved oxygen and methane gas contents with PVA-H3BO3 immobilized cell of C611 using electrochemical method. The response time was no more than 100 s of this reaction system, and the linear range of detection of methane content was from 0 to 10%. The standard gas sample 3% methane was measured by this method with the mean content value of 3.09%, RSD of 3.48%, and the relative error of 3%. Hence, it has the potential in developing biosensor for methane.

Studies on the relationship between vitamin D receptor gene polymorphism and osteoporosis in postmenopausal women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the relationship between vitamin D receptor (VDR) gene polymorphism and osteoporosis in postmenopausal women.</p><p><b>METHODS</b>The polymerase chain reaction-restriction fragment length polymorphism was used to detect VDR genotype in 40 patients with osteoporosis and 21 healthy postmenopausal women.</p><p><b>RESULTS</b>In the patients with osteoporosis, the bb, Bb, and BB genotype accounted for 82.5%, 17.5% and 0, respectively; in healthy groups, they were 85.71%, 14.29% and 0, respectively (P>0.05).</p><p><b>CONCLUSION</b>Significant association between VDR genotype and osteoporosis in Chinese women was observed in this study.</p>

The correlative factors analysis of leptin in type 2 diabetic fatty liver / 中国实用内科杂志

Objective To explore the relationship of leptin、 Glutathione peroxidase (GSH-Px) and other correlative factors with type 2 diabetic fatty liver. Methods From 2003-10 to 2004-01, we examined leptin、GSH-Px、 blood fat in the serum and BMI、FAT% in 23 cases of type 2 diabetic fatty live、30 cases of type 2 diabetic inpatients and 30 healthy people. Compare their level and analyse the correlation. Results (1)The TG、BMI、FAT% of type 2 diabetic fatty liver patients were significantly higher than that of the others groups. (2)Leptin and GSH-Px of each group had significant changes. Leptin was correlative with FAT% and age. GSH-Px was correlative with age and HDL. Conclusion (1)TG、 BMI and FAT% are important risky factors. (2)There are leptin resistance in type 2 diabetic fatty liver and type 2 diabetes patients and it is influenced by obesity and age. (3)The antioxidant enzyme in the serum of type 2 diabetes patients is reduced and is related with age and HDL.

Effects of Picrotoxin on the Rate, Contractility and Action Potential of Isolated Frog Heart / 第三军医大学学报

Picrotoxin is an anatagninst of gamma-aminobutyric acid, which is an internal inhibition-transmitter in the central nervous system, Picrotoxin exerts a biphasic action on the blood pressure and heart rate in rats and cats in vivo. That is to say, in the initial stage, picrotoxin can lower the blood pressure and heart rate, and then an elevation of these two even above the original level can be observed, up to the present, from the authors limited literature, there has been no report dealing with the problem whether picrotoxin can act on an isolated heart directly.In this study, the heart of a frog was isolated and routine intubation of the heart was done for its perfusion. Physiological polyconduction instrument was inserted through a mechanical transducer to record the heart rale and myocardial contractility. A suspending glass microelectrode coupling with a microamplifier is used to record the action potential of the ventricular myocardium. Real time analysis of all the data was accomplished with a microcomputer. The dosages of picrotoxin used were 1,5, 3.0, 6.0, and 12.0 mg per kilogram of body weight.It was found that picrotcxin can directly act on the isolated frog heart. The results were as follows.1 ) Picrotoxin exerts inhibition on the special conduction system of the heart,and the A-V node and venous sinus are very sensitive. Complete or partial transmission block can be induced.2 ) It can elicit clearly a fall of the heart rate but no biphasic action can berevealed. 3) It can reduce the myocardial contractility, suggesting that the calciuminflow during the functioning period of the action potential is effected. 4 ) It can reduce the amplitude of the action potential but no effect on themaximal depolarization speed is observed, suggesting that picrotoxin islikely to affect the level of resting potential but not the action potentialin the depolarized period.