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OBJECTIVE@#To understand the genotypes and distribution characteristics of thalassemia in Baise, Guangxi Zhuang Autonomous Region, to provide references for the prevention and diagnosis of thalassemia in the region and improve the quality of eugenics.@*METHODS@#3 482 pregnant women and their spouses from January 2019 to August 2019 in Baise Maternal and Child Health Hospital for prenatal genetic diagnosis were selected, α, β- thalassemia genes were detected by Gap-PCR, PCR and DNA reverse dot hybridization, cases carrying thalassemia gene were confirmed and statistical analyzed.@*RESULTS@#2 260 samples (64.90%) carrying thalassemia gene were found, among which 1 459 cases (64.56%) were diagnosed as α- thalassemia, 617 cases (27.30%) as β- thalassemia, 184 cases (8.14%) as α complex β- thalassemia. Among 1 459 α- thalassemia genes, --SEA /αα(637 cases, 43.66%), -α3.7 /αα (306 cases, 20.97%), -αCS /αα(143 cases, 9.80%), -α4.2 /αα(124 cases, 8.50%) and -αWS /αα(77 cases, 5.27%) were the most common, while among 617 β- thalassemia genes, CD17 (229 cases, 37.12%), CD41-42 (213 cases, 34.52%), IVS-I-1 (41 cases, 6.65%), βE (38 cases, 6.16%) and CD71-72 (34 cases, 5.51%) were the most common. And --SEA /αα/ CD17 (24 cases, 13.04%), -α4.2 /αα/ CD17 (13 cases, 7.07%), -α3.7 /αα/ CD41-42 (12 cases, 6.52% ) and --SEA /αα/ CD41-42 (12 cases, 6.52%) were mainly found in 184 cases of α complex β - thalassemia.@*CONCLUSION@#Genotyes of thalassemia in Baise, Guangxi Zhuang Autonomous Region are complex and diverse. The prenatal screening and diagnosis of thalassemia in the region should be strengthened in accordance with the characteristics of genetypes in the region, in order to reduce birth defects and improve eugenics quality.
Subject(s)
Child , Female , Humans , Pregnancy , China , Genotype , Mutation , Prenatal Diagnosis , alpha-Thalassemia/genetics , beta-Thalassemia/geneticsABSTRACT
BACKGROUND: Upper eyelid flap grafting-related vessels such as superficial temporal artery, supratrochlear artery, supraorbital artery trunk are reported. Upper eyelid artery dissection is becoming more and more important for the surgery on the eyelid, but there is a lack of anatomical analysis of upper eyelid artery. OBJECTIVE: To measure the anatomical position of the upper eyelid artery in the eyelid region, and to provide anatomical basis for adjacent flap grafting. METHODS: Twenty adult skull specimens were dissected, and a reference coordinate system was made based on the inner canthus connection for the X axis, and the center line for the Y axis. The red lactoprene was injected into the skull model via common carotid artery.The locations A-E of the upper eyelid artery in the eyelid area were measured. RESULTS AND CONCLUSION: The upper eyelid artery in the eyelid area was mainly from the supratrochlear artery and the supraorbital artery, generally paralleling to the X axis. The upper eyelid branch originated from the supratrochlear artery was located at the projection of the inner canthus, with a total length of 24.50 mm, and a diameter of 0.51 mm, extended to the outer canthus and the diameter of the vessel gradually reduced. The upper eyelid branch originated from the supraorbital artery was located at pupil and inner canthus junction 1/2 projection. The total length of the blood vessels was about 23-24.6 mm, and the diameter of the blood vessels was (0.55±0.05) mm. In the current study, we obtained the surface projecting of upper eyelid artery in the eyelid area by establishing the skull model of blood perfusion, which provides an anatomic basis for upper eyelid flap grafting.
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<p><b>OBJECTIVE</b>To analyze the effect of globular adiponectin on angiogenesis of ovarian microvascular endothelial cells (OMECs).</p><p><b>METHODS</b>Mouse OMECs were isolated and purified by density gradient centrifugation with Percoll and identified by immunofluorescence analysis of follicle-stimulating hormone receptor (FSHR), luteinizing hormone receptor (LHR), and endothelial cell marker von Willebrand factor (vWF). The capillary-like tube formation of OMECs was determined by vascular endothelial growth factor A (VEGFA) treatment in Matrigel matrix. OMECs treated with recombinant globular adiponectin protein were examined for cell proliferation with MTS assay and cell migration with scratch wound healing assay, and capillary-like tube formation was tested in Matrigel matrix. Western blotting was performed to detect the effect of globular adiponectin on AMPK phosphorylation.</p><p><b>RESULTS</b>The signals of LHR and vWF, but not that of FSHR, were detected in the isolated cells. VEGFA treatment of the cells induced capillary-like tube formation, indicating their properties of ovarian-specific endothelial cells. Treatment with 1 and 3 µg/mL of recombinant globular adiponectin significantly increased the number of OMECs by (158.72∓14.50) % and (186.50∓4.20)% (P<0.01) and resulted in scratch wound closure rates of (49.43∓3.43)% (P<0.05) and (69.67∓1.2) % (P<0.01) respectively. The cells treated with 3 µg/mL globular adiponectin formed a capillary-tube length 6.63∓0.66 folds greater than that formed by the control cells (P<0.01). Treatment of the cells with 3 µg/mL globular adiponectin for 15 and 30 min resulted in pAMPK/AMPK ratios of 0.86∓0.08 and 0.66∓0.13, respectively significantly higher than that in the control cells (0.13∓0.12, P<0.01). Compound C obviously suppressed the tube formation and AMPK phosphorylation induced by globular adiponectin.</p><p><b>CONCLUSION</b>Globular adiponectin promotes angiogenesis of OMECs through activation of the AMPK signal pathway.</p>