Objective To investigate the clinical characteristics and diagnostics of Kozlowski type spondylometaphyseal dysplasia (SMDK). Methods The clinical features, laboratory tests and genetic testing of one SMDK case were analyzed. Re-sults A eight-year-old male patient had more than 6 years course of disease. The clinical manifestations were stubby limbs, ifn-gers and toes, varus deformity, knee valgus deformity, scoliosis and lordosis and severe metaphyseal changes. The heterozygous mutations were detected in TRPV4 and NXX3-2 genes. Conclusions Typical clinical features combined with genetic diagnosis facilitate early detection and accurate diagnosis of SMDK.

BACKGROUND:Lingo-1 has been identified as a negative regulator of oligodendrocyte differentiation and myelination, which may be closely related to the white matter damage, but there is no systematic report on the dynamic changes of Lingo-1 after white matter damage.
OBJECTIVE:Toexplore the dynamic expression of Lingo-1 at different time points after white matter injury in newborn rats.
METHODS:Seventy-eight Sprague-Dawley rats aged 3 days old were equaly and randomly divided into sham operation group and model group. In the model group, models of white matter injury were established by unilateral ligation of the right common carotid artery combined with hypoxia. In the sham operation group, the right common carotid artery was isolated only, without ligation or hypoxia.
RESULTSAND CONCLUSION:At 7 days after model induction, hematoxylin-eosin staining and immunohistochemical staining for myelin basic protein showed that a selective white matter injury was seen at the injury site of a rat model, suggesting successful model establishment. Fluorescent quantitative PCR and western blot assay results demonstrated that the expression levels of Lingo-1 mRNA and protein were significantly up-regulated at 1 day and reached a peak at 7 days post-surgery. After 7 days, above expression wasgradualy decreased and the up-regulation of Lingo-1 protein lasted to the 28 days post-surgery compared to the sham operation group. These results show that Lingo-1 protein was closely related to the brain white matter injury.

Objective To investigate the expression of hMLH_1 in gastric cancer and its significance,Methods The expressions of hMLH_1 protein and mRNA were detected by immunohistochemistry and reverse transcription polymerase chain reaction(RT-PCR) in 68 cases of gastric cancer tissues,33 cases of para-cancer tissues and(35 cases) of normal gastric tissues.Apoptosis was assayed by terminal deoxytransferase mediated dUTP nicked labeling.Results The positive expression rates of hMLH_1 mRNA were 63.3%(43/68),100%(33/33) and 100%(35/35),and those of protein were 61.8%(42/68),93.9%(31/33),100%(35/35),respectively,in gastric cancer tissues,para-cancer tissues and normal gastric tissues.There was a correlation between the expression of hMLH_1 and clinical grade of gastric cancer(r=0.531,P

ObjectiveTo explore the effect of different hypoxic duration on the brain white matter injury.Methods ewborn rats were randomly divided into two groups, normal group (n=24) and model group (n=45). The model group was di-vided into 3 subgroups (n=15) according to the time of hypoxia (50 min, 70 min, and 90 min). The animal model of white matter injury was established by unilateral carotid artery ligation in model group. After different duration of hypoxia, the mortality rate was recorded, the morphological changes of brain pathology was observed by hematoxylin eosin (HE) staining, myelin basic pro-tein (MPB) of white matter was detected by immunolfuorescence staining and motor function was evaluated by climbing slope test.ResultsThe mortality rates signiifcantly increased with prolonged hypoxia. The mortality rate was as high as 60% in 90 min subgroup. The HE staining showed that there were no obvious injury in 50 min subgroup, selective white matter injury on the operative side appeared in 70 min subgroup, and a wide range of infarction of white matter, hippocampus, and cortex appeared in 90 min subgroup. MBP semi-quantitative scores of white matter injury were higher in 70 min subgroup (3.89 ± 0.47) and 90 min subgroup (4.72 ± 0.57) than that in the normal group (0.06 ± 0.24), the difference was statistically signiifcant (P <0.05). In climb-ing slope test, the subgroups had different degrees of motor dysfunction on affected side with 90 min subgroup being the most serious.ConclusionsWhite matter injury model could be established by unilateral carotid artery ligation, and different hypoxic duration signiifcantly affects the range and degree of injury.

Objective To study the relationship between Noble grade and distribution of myocardial bridge and atherosclerosis. Methods The clinical data of 192 patients with myocardial bridge diagnosed by coronary artery angiography were retrospectively analysed.The clinical symptoms,electrocardiographic and echocardiographic findings were analysed to explore the relationship between Noble grade and distribution of myocardial bridge and atherosclerosis,and the outcomes of medical treatment were also investigated. Results The positive rate of myocardial bridge detected by coronary artery angiography was 10.2%,which was usually observed in the middle part of left anterior descending coronary artery.All the patients with grade 3 of Noble grade experienced chest pain or palpitation,43.8% had ischemic ST-T changes on electrocardiogram,and 37.5% had abnormal segmental ventricular wall on echocardiography.However,patients with Noble grade 1 and 2 did not have ischemic ST-T changes on electrocardiogram or abnormal segmental ventricular wall on echocardiography.The prevalence of atherosclerosis in proximal coronary artery of myocardial bridge was significantly higher than those of mural coronary artery and distal coronary artery(P

0.05).Compared with non-myocardial infarction group,the prevalence of normal segmental ventricular wall motion and ejection fraction in myocardial infarction group was significantly lower,while those of akinesia and paradoxical motion were significantly higher(P

The aim of this study was to investigate the clinical, pathological and biological features of acute megakaryoblastic leukemia in childhood. The morphology of cells was observed by means of bone marrow smear; the immunophenotype was detected by flow cytometry and immunohistochemistry assay. The results indicated that the fever, hemorrhage, hepatosplenomegaly and lymphadenopathy in this case were the primary presentations accompanying by leukocytosis, anemia and thrombocytopenia. An adequate marrow aspirate could not be obtained. At the time of diagnosis, the bone marrow had more than 30% megakaryoblasts in nucleated cells. Flow cytometric analysis revealed the dual expression of CD41 and CD61 by tumor cells in bone marrow. The histopathological examination of bone marrow demonstrated infiltration of large-sized CD42b(+) cells. According to all above mentioned results, this case was diagnosed as acute megakaryoblastic leukemia. In conclusion, childhood acute megakaryoblastic leukemia is a rare and easily misdiagnosed disease with poor prognosis. Flow cytometry analysis and immunohistochemistry assay of bone marrow can help in detecting this leukemia subtype and evaluating its prognosis.
Bone Marrow Cells ; immunology ; pathology ; Female ; Flow Cytometry ; Humans ; Infant ; Leukemia, Megakaryoblastic, Acute ; diagnosis ; immunology ; pathology ; Platelet Glycoprotein GPIb-IX Complex ; immunology

Objective: Analyze the ecological adaptable regions for the resource reservation and the expanding cultiva-tion of Quisqualis indica L. Methods: The Traditional Chinese Medicine Geographic Information System (TCMGIS) was used to analyze the ecological adaptable region. Results: The 17 provinces (city, municipalities) were the ecolog-ical adaptable region for Q. indica L. The 100% ecology similarity regions are mainly in 16 provinces (city, munici-palities), including Guangxi, Guangdong, Hunan, Fujian etc., which area accounts for 1 012 895.98 km2. Among these, the area in Guangxi province is the largest (195 313.64 km2), the second is Guangdong (150 276.36 km2), the following order is Hunan(128 925.29 km2), Fujian (101 471.16 km2) and Y unnan (100 660.83 km2). The 95%~100%ecology similarity regions is located in 16 provinces (city, municipalities), including Y unnan, Sichuan, Guizhou, Hubei province etc., which area accounts for 362 366.25 km2. The largest area is in Y unnan province (92 399.04 km2), followed by Sichuan(76 122.32 km2), Guizhou (43 902.38 km2), Hubei (31 760.32 km2) and Jiangxi (29 770.09 km2). Conclusion: The results are consistent with the survey results and the previous reports. To promote the develop-ment of Q. indica L. cultivation, the planting scientifically and quality evalution should be further conducted on the basis of the results by system analysis.

Objective To dynamically monitor the changes of peripheral blood lymphocyte subsets of renal transplant recipients and investigate the relationship between lymphocyte subsets with infection and rejection.Methods The clinical data of allogenic kidney transplantation recipients and living relative donors in the Department of Kidney Transplantation of the First Affiliated Hospital of Zhengzhou University were prospectively collected from June 2015 to December 2016.The data of lymphocyte subsets and other related indexes were obtained from renal transplant recipients and relatives of the same period.Results Sixty-four cases of living-relative donors and 351 cases of renal transplant recipients were enrolled in this study,and the recipients were divided into 3 groups:infection group (67 cases),acute rejection group (46 cases),and stable group (238 cases),according to the diagnostic criteria.There was significant difference in the concentration distribution of lymphocytes between the stable group and the control group (P<0.05).The stable frequency distribution range of the stable group was as follows (cells/μL):Lym (1 000-1 500),T (<1 500),CD4+ (<1 000),CD8+ (<1 000),B (<300),NK (100-300),CD4+/CD8+ (0.5-1.0).The number of Lym,T,CD4+,CD8+,NK and B cells in the preoperative patients was less than that in the healthy population (P<0.05);The number of Lym,T,CD4+, CD8+,B and NK cells was gradually decreased in the postoperative infection group,which was less than that in the stable group (P<0.05).After treatment the indicators gradually restored to the level in the stable group level;the number of T,CD4+,CD8+,B cells was highly correlated with infection.The number of T and CD4+ cells,and CD4+/CD8+ ratio were significantly increased in acute rejection group as compared with the stable group,and gradually decreased after the rejection was reversed.The number of T,CD4+,CD8+ cells was highly correlated with rejection.Lymphocyte subsets had a predictive effect on infection and rejection of recipients,and CD4+ cell count and CD4+/CD8+ ratio were independent risk factors.Conclusion The monitoring of lymphocyte subsets has an important clinical value in the evaluation of immune status and individual treatment of renal recipients.

Objective To understand the cognition about healthcare-associated infection(HAI) management among directors in secondary and above hospitals in Shaanxi Province.Methods Questionnaire survey was adopted to investigate hospital directors who participated in The third session of Shaanxi Provincial HAI management training course for hospital directors.Results A total of 181 questionnaires were distributed, 173 (95.58％) were qualified.74.57％ of surveyed hospitals were secondary hospitals, 61.85％ were comprehensive hospitals, 67.05％ of respondents received HAI training in recent 3 years, 81.50％ and 55.49％ of hospital directors thought the main factors influencing the HAI management were health care workers'' awareness on HAI and leaders'' attention respectively.58.96％, 60.12％, and 46.82％ of hospital directors thought the director of HAI management department should have intermediate and above professional title, bachelor degree or above education, and preventive medicine professional requirements respectively.The awareness rate of HAI management-related knowledge was 86.71％, difference in awareness rate of HAI management-related knowledge among respondents of different job, gender, and HAI training in recent 3 years were all significantly different(all P<0.05).Conclusion Hospital directors'' cognition on HAI management affect the development of HAI work, strengthen the training on HAI knowledge among administrators can improve hospital administrators'' awareness on HAI prevention and control.