Genetic Analysis of Thalassemia in 22 940 Pregnant Women in Xiangxi Tujia and Miao Autonomous Prefecture / 中国实验血液学杂志

OBJECTIVE@#To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao Autonomous Prefecture.@*METHODS@#Automatic capillary electrophoresis was used to screen the thalassemia phenotypes of 22 940 blood samples of pregnant women and puerperants collected in our hospital and some other medical institutions in the prefecture during 2017-2019, among which there were 3 356 cases of Tujia ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were indicated. The samples with positive result would undergo further genetic testing.@*RESULTS@#There were 2 314 cases of suspicious thalassemia were screened from 22 940 cases by the electrophoresis, thus the positive rate was 10.1% (hematological phenotypes from some other institutions were not included). Specifically, there were 1 706 cases with HBA2 less than 2.5%, 255 cases with HBA2 ranged from 2.5% to 3.5%, which displayed abnormal hematology (MCV or/and MCH) or other abnormal bands, and 353 cases with HBA2>3.5%. There were 436 suspected positive patients in 2 314 suspicious samples received further thalassemia gene testing in our hospital, among them 48 cases were diagnosed with α-thalassemia, 85 cases with β-thalassemia, and 2 cases as compound type. The positive diagnosis rate of α-thalassemia gene test was 11.0%, β-thalassemia was 19.4%, and positive pregnant women was 31.0%.@*CONCLUSION@#The positive rate of thalassemia screening in Xiangxi Autonomous Prefecture is roughly the same as that in other regions of Hunan. The positive predictive value of β-thalassemia screening is as high as 86%. Compared with the missed screening data, it is recommended to use hematology (MCV, MCH) method combined with capillary hemoglobin electrophoresis for thalassemia screening.

Comparison of therapeutic effects of three repair methods for rotator cuff tears under arthroscopy / 中国骨伤

<p><b>OBJECTIVE</b>To retrospectively study curative effects of three repair methods for rotator cuff tears under arthroscopy, and to explore relationships between different repair methods and cuff lesions.</p><p><b>METHODS</b>From January 2009 to Jaunary 2014, a total of 353 patients with rotator cuff tears treated with surgical repair under arthroscopy were included in this study. All the patients were divided into three groups according to time of visitiny hospital and it was divided into three periods. The patients on the first period were treated with single row rivet fixation(115 cases), including 51 males and 64 females, with an average age of (57.46±9.08) years old. The patients on the second period were treated with double row rivet fixation(163 cases), including 76 males and 87 females, with an average age of (56.93±9.92) years old. The patients in the third period were treated with suture bridge fixation(75 cases), including 32 males and 43 females, with an average age of (55.90±9.15) years old. There were 29 patients with huge rotator cuff injuries, who were treated with single-row suture. The shoulders were protected by a brace for 6 weeks after operations were permit ted to perform passive movement within 6 weeks, and then perform active shoulder exercise 6 to 10 weeks after operation. Constant-Murley score, UCLA score and VAS score were recorded preoperatively and postoperatively.</p><p><b>RESULTS</b>All the patients were followed up, and the duration ranged from 12 to 62 months, with a mean of 30 months. There was no infection or nerve injury. UCLA score was improved from preoperative 10.71±2.45 to postoperative 32.07±3.16; Constant-Murley score was improved from preoperative 43.33±11.55 to postoperative 78.15±12.64; VAS score was improved from preoperative 5.81±1.27 to postoperative 0.52±0.71. There were no statistical differences among three groups in UCLA score, Constant-Murley score and VAS score. Total 337 cases were satisfied with treatment results and 16 cases were not satisfied with the results. Among the 16 cases, 3 cases had huge rotator cuff surgery, and 13 cases had no joint stiffness before operation. The main complaints that resulted in dissatisfaction were weakness of the postoperative muscles and failure to restore the labour capacity(11 cases).</p><p><b>CONCLUSIONS</b>Rotator cuff repair under arthroscopy has a reliable clinical effect for the patients with rotator cuff tears. Stable and reliable clinical results can be obtained regardless different repair methods or different rotator cuff tears. The following factors such as no stiffness before operation, too early active exercise and preoperative rotator cuff atrophy may be the risk factors for postoperative dissatisfaction of patients.</p>

Treatment of lumbar disc herniation combine with buttock tender node with Pizhen / 中国骨伤

<p><b>OBJECTIVE</b>To observe the therapeutic effects of Pizhen in treating lumbar disc herniation combined with buttock tender node.</p><p><b>METHODS</b>From August 2009 to February 2010,83 patients (29 males and 54 females) with lumbar disc herniation combined with buttock tender node were randomly divided into the Pizhen group and acupuncture group. Pizhen group were treated with Pizhen manipulation, inserting needle by vertical prick with quacking inserting and quick withdrawing the needle, no rotating and the depth was through the surface of fascia, two times as a course of treatment; acupuncture group were treated with acupuncture, inserting Ashi-point, retaining the needle 20 min, ten times as a course of treatment. VAS scoring at the end of treatment and B ultrasonic image at 3d after treatment was carried out to observe the therapeutic effects.</p><p><b>RESULTS</b>B ultrasonic image of buttock tender node showed inflammation reaction or ellipse. The width of the inflammation reaction decreased after treatment, but there has no statistical significance (P=0.635). There was no significant difference between two groups (P=0.813).</p><p><b>CONCLUSION</b>Pizhen manipulation is better than acupuncture. B ultrasonic image gives morphological performance of buttock tender node, the content is inflammatory infiltrates. B ultrasound has certainly significance in diagnosing, treating and evaluating the clinical effect of Pizhen manipulation on treating buttock tender node.</p>

Reconstruction of posterolateral structure in knee with Müller method / 中国骨伤

<p><b>OBJECTIVE</b>To study the clinical effects of Müller method for reconstruction of posterolateral corner (PLS) of knee joint.</p><p><b>METHODS</b>From June 2005 to June 2007, 13 patients with PLS injured were treated with Müller method. Four patients complicated with injuries in anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL), 7 patients complicated with injuries in PCL, 4 patient also had injuries in ACL, 1 patient complicated with ACL injury, and 1 patient complicated with avulsions fractures of the tibial ACL insertion. Among the patients, 5 patients had chronic injuries with a duration of 2 to 7 months. After the cruciate ligament was reconstructed, the popliteus tendon was reconstructed with iliotibial band and lateral collateral ligament (LCL) reconstructed with biceps femoris tendon. All the ligaments were fixed with interface screws. The patients were encouraged to do strength and motion exercise on bed immediately after operation and permit toe-touch weight-bearing till two months after operation. The brace was used till six months after operation.</p><p><b>RESULTS</b>The average follow-up period was 13 months (ranged from 6 to 27 months). There was no restriction of range of motion. External rotation range were good compared to the normal side. One year after operation, one-grade varus instability at 30 degrees flexion was found only in 2 patients. The postoperative Lysholm scores were from 77 to 94 (average 86).</p><p><b>CONCLUSION</b>The method is easier to perform, easier to get the materiar for reconstruction and promised satisfactory clinical results.</p>

Ligaments reconstruction for the treatment of lateral ankle instability / 中国骨伤

<p><b>OBJECTIVE</b>To study therapeutic effects of lateral ankle ligaments reconstruction for the treatment of chronic lateral instability of the ankle joint.</p><p><b>METHODS</b>From July 2005 to January 2008, among 13 patients with chronic lateral instability of the ankle joint, 10 patients were male and 3 patients were female, ranging in age from 24 to 45 years,with an average of 33 years. Anterior talo-fibular ligament (ATFL) and calcanea-fibular ligament (CFL) were anatomy reconstructed with a split peroneus brevis tendon graft for all patients. The ankle scoring system was used to evaluate ankle joint function before and after operation, which including stability, pain, locomotor activity and X-ray films.</p><p><b>RESULTS</b>All the patients were followed up ranged from 6 to 32 months, averaged 16.4 months. The postoperative scores of the ankles increased in respect to stability, pain and locomotor activity. The total average score increased from preoperative (43.54+/-7.04) to postoperative (73.38+/-4.17). There was significant difference between preoperative scores and postoperative scores (P<0.01). All the patients were satisfied with the results.</p><p><b>CONCLUSION</b>Anatomy reconstruct of the ATFL and CFL with a split peroneus brevis tendon graft (Sammarco method) is a practical method for lateral ankle instability and promise good results especially for patients complained of instability.</p>

Controlled clinical trials on the treatment of lumbar disk herniation by Dingweiban and Xieban manipulation / 中国骨伤

<p><b>OBJECTIVE</b>To observe and compare the clinical effect of Dingweiban and Xieban manipulation, and to compare the change of the deviation of spinous processes between two methods.</p><p><b>METHODS</b>One hundred and twenty-two cases were divided into two groups. Sixty-two cases were treated with Dingweiban manipulation method and 60 cases by Xieban manipulation. The changes of Fairbank scores, the clinical effects and the difference of the deviation of the spinous processes (L3, L4, L5) from the lumbar posterior-anterior X-ray were compared.</p><p><b>RESULTS</b>The scores before and after treatment and 3 months after treatment were compared. There were significant differences between two groups (P < 0.05) by nonparametric test. The result of Dingweiban manipulation group: 53 cases cured, 5 cases better, 3 cases effective and 1 case no effect. The result of clinical Xieban manipulation group: 43 cases cured, 6 cases better, 7 cases effective and 4 cases no effect. The clinical effects had significant differences after treatment and 3 months after treatment (P < 0.05, P < 0.0l) by nonparametric test. After the first treating, there was clear difference of the deviations' distance of the L4 spinous process compared with the Xieban manipulation group (P < 0.05). After the last treating, there were clear differences of the deviation distance of the L4 and L5 spinous processes compared with the Xieban manipulation group (P < 0.05, P < 0.01).</p><p><b>CONCLUSION</b>Dingweiban manipulation is better than Xieban manipulation in effects and has influence on the deviation of spinous processes, especially for the L5 spinous process.</p>

Current advances in the mechanic studies of human papillomavirus-induced oncogenesis / 中国医学科学院学报

Human papillomavirus (HPV) is a common small DNA tumor virus that specifically infects squamous epithelial cells and causes benign or malignant epithelial lesions such as genital warts and cervical cancer. High-risk HPV is detected in specimens of more than 90% of cervical cancer. In the 7. 9 kb genome of HPV, E6 and E7 are the crucial viral oncoproteins that consistently maintained after viral integration into host cell genome. These two proteins interfere with cell proliferation and differentiation through interacting with important tumor suppressors including p53 and pRb. High-risk HPV E6/E7 also induces genomic instability, facilitating cell transformation.

Apoptosis of hypertrophic cardiomyocytes stimulated by hypoxia-reoxygenation is partially mediated by apoptosis-inducing factor / 生理学报

Cardiomyocyte apoptosis leads to the functional incapacitation of myocardial plasmodium and plays an important role in the pathogenesis of heart failure transformed from compensable cardiac hypertrophy. Mitochondria are the main source of apoptosis-inducing molecule of various cells, and the role of caspartate-specific cysteinyl proteinase (caspase)-dependent mechanism has generally been accepted in the cardiomyocyte apoptosis. However, the significance of caspase-independent apoptosis-inducing factor (AIF) mechanism is not yet understood. The purpose of this study was to evaluate hypoxia-reperfusion-induced alterations of AIF mRNA and protein expressions in hypertrophic cardiomyocytes. Cardiomyocyte hypertrophy was produced by angiotensin II (0.1 mumol/L). The cells were cultured under the condition of hypoxia (95% N2 and 5% CO2; the O2 partial pressure was lower than 5 mmHg) for 8 h or 12 h (named as H8h and H12h groups, respectively), and then exposed to normal culture environment (named as H8h/R and H12h/R groups, respectively). Apoptosis was detected with Hoechst 33258 staining. The AIF mRNA and protein expressions were detected by RT-PCR and Western blot and quantified by gel scanning. The results were as follows: (1) The level of AIF mRNA expression was 0.29+/-0.08 (optical density, relative value) in the control group (hypertrophic cardiomyocytes cultured in normal environment). Compared with that in the control group, the levels of AIF mRNA expression were significantly higher in the groups of H8h and H12h (0.52+/-0.04 and 0.85+/-0.10), indicating that this effect was time-dependent. A further increase of AIF mRNA expression was observed in the groups of H8h/R (1.09+/-0.12) and H12h/R (1.41+/-0.23). (2) The level of AIF protein expression was 0.29+/-0.04 in the control group. Compared with that in the control group, the levels of AIF protein expression were significantly higher in the groups of H8h and H12h (2.07+/-0.15 and 3.12+/-0.19). The AIF protein expression was increased further in the groups of H8h/R (4.57+/-0.25) and H12h/R (5.71+/-0.27). The nuclear translocation of AIF protein was obvious only in the groups of H8h/R and H12h/R. (3) The expressions of AIF mRNA and protein were almost completely inhibited by AIF siRNA transfection. The siRNA transfection also reduced the apoptosis of hypertrophic cardiomyocytes in the groups of H8h/R and H12h/R but not in the groups of H8h and H12h. The apoptosis rate was significantly reduced by both AIF siRNA transfection and Ac-DEVD-cmk, an inhibitor of caspase-3. This reduction induced by two factors was more evident than that by one factor. (4) AIF nuclear translocation induced by hypoxia-reperfusion was not affected by inhibition of the activity of caspase-3. These data suggest that AIF plays a pivotal role in the apoptosis of hypertrophic cardiomyocytes induced by hypoxia-reperfusion.

Radiographic analysis of rotational malalignment between tibial component and femoral component in total knee arthroplasty / 中华外科杂志

<p><b>OBJECTIVE</b>To identify possible reasons of rotational mismatch between tibial component and femoral component in total knee arthroplasty and choose a right reference axis for placing the components in the operation and to decrease the complications.</p><p><b>METHODS</b>Forty normal Chinese knees were studied. There were 20 men and 20 women, and average age was 34 years (range, 18 - 42 years). The images of cross sections of the distal femur were obtained by spiral CT scanning (0.5 mm thickness). Scan direction was aligned to be in the plane perpendicular to the mechanical axis of the tibia. On the images of the distal femur and the proximal tibia, three baselines for the anteroposterior axis of the femoral component were drawn based on the clinical epicondylar axis and the surgical epicondylar axis and 3 degrees lateral rotated to the posterior condylar surfaces of the femur separately, and a baseline for the anteroposterior axis of the tibial component was drawn based on the medial 1/3 of the tibial tuberosity. The rotational mismatch angles were measured between each component by using the Autocad software.</p><p><b>RESULTS</b>The mean rotational mismatch angle between tibial component and femoral component is 2.94 degrees for the clinical epicondylar axis, 6.50 degrees for the surgical epicondylar axis and 6.83 degrees for 3 degrees lateral rotation of the femoral component referenced to the posterior condylar axis separately.</p><p><b>CONCLUSIONS</b>Landmarks of each bone were the intrinsic cause of the rotational mismatch in total knee arthroplasty. The clinical epicondylar axis can be chosen for the ideal reference to rotational alignment of the femoral component because of its minimal rotational mismatch between each component.</p>

Parameters selection in gene selection using Gaussian kernel support vector machines by genetic algorithm / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

In microarray-based cancer classification, gene selection is an important issue owing to the large number of variables and small number of samples as well as its non-linearity. It is difficult to get satisfying results by using conventional linear statistical methods. Recursive feature elimination based on support vector machine (SVM RFE) is an effective algorithm for gene selection and cancer classification, which are integrated into a consistent framework. In this paper, we propose a new method to select parameters of the aforementioned algorithm implemented with Gaussian kernel SVMs as better alternatives to the common practice of selecting the apparently best parameters by using a genetic algorithm to search for a couple of optimal parameter. Fast implementation issues for this method are also discussed for pragmatic reasons. The proposed method was tested on two representative hereditary breast cancer and acute leukaemia datasets. The experimental results indicate that the proposed method performs well in selecting genes and achieves high classification accuracies with these genes.

Preparation of monoclonal antibodies against prion proteins with full-length hamster PrP / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To prepare the PrP specific monoclonal antibodies (mAbs) that can be used for the detection of mammalian prions and study of pathogenesis of prion diseases.</p><p><b>METHODS</b>Several BALB/c mice were immunized with recombinant hamster prion protein (HaPrP). Three hybridoma cell lines designated as B7, B9, and B10, secreting monoclonal antibodies against HaPrP, were established by hybridoma technique. The mAbs reactivities were evaluated with ELISA, Western blot, and immunohistochemistry.</p><p><b>RESULTS</b>The mAbs produced by these cell lines reacted well with different recombinant hamster PrP proteins. Western blot analyses showed that mAbs B7 and B9 reacted with PrPSc from the scrapie-infected animals after proteinase K digestion with three glycosylated forms. The mAbs exhibited cross-reactivity with various PrPC from several other mammalian species, including humans and cattles. Immunohistochemistry assays confirmed that mAbs B7 and B9 could recognize not only extracellular but also intracellular PrPsSc.</p><p><b>CONCLUSION</b>The mAbs of prion protein are successfully generated by hybridoma technique and can be applied for the diagnosis of prion associated diseases.</p>

Influence of ultrasonic processing on the aggregation of PrP-Sc in the brain extracts of the scrapie-infected hamsters / 中华实验和临床病毒学杂志

<p><b>BACKGROUND</b>To evaluate the influence ultrasonic processing on the aggregation of PrP(Sc) in the brain extracts prepared from the scrapie-infected hamsters, and to seek for the way to prepare lower molecular PrP(Sc) polymer.</p><p><b>METHODS</b>The extracts of infected brains were prepared with a lysis solution, and treated with ultrasonics at various conditions during the different phases. The distribution and aggregation state of PrP(Sc) were analyzed by proteinase K treated. Western blot, and afterwards, quantitatively calculated with a commercially supplied software Image Totaltech.</p><p><b>RESULTS</b>The amount of PrP(Sc) in the supernatant of brain homogenates was 1.29-to 1.58-fold increased with appropriate sonication (15 s for 30 times). At the same conditions of ultrasound, the PrP amount in the supernatant prepared from the scrapie-infected hamster brain was significantly increased, whereas that prepared from healthy animal used as normal control showed little change. Comparative analyses of PrP(Sc) pellets prepared by high-speed centrifugation revealed that about 90% PrP(Sc) released into supernatant after ultrasound processing.</p><p><b>CONCLUSION</b>Appropriate sonication of homogenate of scrapie-infected brain increases the extracted amount of PrP(Sc), being favorable to laboratory diagnosis. Larger molecular PrP(Sc) aggregates can be crashed by ultrasonic processing, engendering lower molecular PrP(Sc) polymers.</p>

Dynamic analyses of PrP and PrP(Sc) in brain tissues of golden hamsters infected with scrapie strain 263K revealed various PrP forms / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To expatiate dynamic changes in hamsters infected with scrapie strain 263K, to observe the presence and aggravation of various forms of PrP and PrP(Sc) during incubation period, and to probe primarily the relationship between the onset of clinic manifestations and the presence of different PrP(Sc) forms.</p><p><b>METHODS</b>Hamster-adapted scrapie strain 263K was intracerebrally inoculated into hamsters. Different forms of PrP and PrP(Sc) were monitored dynamically by Western blot and immuno-histochemical assays. The presence of scrapie-associated fibril (SAF) was assayed by electron microscopy analysis (EM) and immuno-golden EM.</p><p><b>RESULTS</b>PrP(Sc) was initially detected in the brain tissues of the animals in 20 days post-inoculation by immunohistochemistry and 40 days with Western blot. Quantitative evaluations revealed that the amounts of PrP and PrP(Sc) in brain tissues increased along with the incubation. Several high and low molecular masses of PrP were seen in the brains of the long-life span infected animals. Deglycosylation assays identified that the truncated PrP in the infected brains showed similar glycosylation patterns as the full-length PrP. The presence of short fragments was seemed to relate with the onset of clinical conditions.</p><p><b>CONCLUSION</b>These results indicate that infectious agents exist and accumulate in central nerve system prior to the onset of the illness. Various molecular patterns of PrP(Sc) may indwell in brain tissues during the infection.</p>

Hemodynamic effects of aminophylline and nifedipine in patients with high altitude pulmonary edema / 中国应用生理学杂志

<p><b>AIM</b>To evaluate the hemodynamic effects of aminophylline and nifedipine in patients with HAPE.</p><p><b>METHODS</b>10 patients with HAPE undergone Swan-Ganz catheter. The parameters of hemodynamics and arterial blood gases in HAPE were measured before and after administration of nifedipine 20 mg sublingually and aminophylline 0.25 g intravenously respectively.</p><p><b>RESULTS</b>After administering 0.25 g aminophylline the mPAP and PVR significantly decreased, the cardiac output and the level of PaO2, SaO2 increased obviously, the mSAP, HR did not change so much. After using 20 mg nifedipine, the mPAP, PVR and mSAP also decreased, while the cardiac output, HR and the level of PaO2, SaO2 did not show any changes.</p><p><b>CONCLUSION</b>Both of aminophylline and nifedipine can attenuate pulmonary hypertension in patients with HAPE, but the effect of aminophylline was better than the effect of nifedipine.</p>

Comparison study on clinical and neuropathological characteristics of hamsters inoculated with scrapie strain 263K in different challenging pathways / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To understand the infectious characteristics of a hamster-adapted scrapie strain 263K with five different routes of infection including intracerebral (i.c.), intraperitoneal (i.p.), intragastrical (i.g.), intracardiac and intramuscular (i.m.) approaches.</p><p><b>METHODS</b>Hamsters were infected with crude- or fine-prepared brain extracts. The neuropathological changes, PrP(Sc) deposits, and patterns of PK-resistant PrP were analyzed by HE stain, immnunohistochemistry (IHC) assay and Western blot. Reactive gliosis and neuron loss were evaluated by glial fibrillary acidic protein (GFAP) and neuron specific enolase (NSE) specific IHC.</p><p><b>RESULTS</b>The animals inoculated in i.m. and i.p. ways with crude PrP(Sc) extracts showed clinical signs at the average incubation of 69.2 +/- 2.8 and 65.5 +/- 3.9 days. Inoculation in i.c. and intracardiac ways with fine PrP(Sc) extracts (0.00035 g) caused similar, but relative long incubation of around 90 days. Only one out of eight hamsters challenged in i.g. way with low dosage (0.01 g) became ill after a much longer incubation (185 d), while all animals (4/4) with high dosage (0.04 g) developed clinical signs 105 days postinfection. The most remarkable spongiform degeneration and PrP(Sc) deposits were found in brain stem among the five challenge groups generally. The number of GFAP-positive astrocytes increased distinctly in brain stems in all infection groups, while the number of NSE-positive cells decreased significantly in cerebrum, except i.c. group. The patterns of PK-resistant PrP in brains were basically identical among the five infection routes.</p><p><b>CONCLUSION</b>Typical TSE could be induced in hamsters by inoculating strain 263K in the five infection ways. The incubation periods in bioassays depend on infective dosage, administrating pathway and preparation of PrP(Sc). The neuropathological changes and PrP(Sc) deposits seem to be related with regions and inoculating pathways.</p>