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<p><b>OBJECTIVE</b>To identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Peripheral blood samples were collected from all 11 members of the family and 50 healthy adults for the extraction of genomic DNA. All exons and introns of the COL1A1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. Mutations found in the proband were analyzed through comparison with other members of the family, 50 healthy individuals and sequence from the GenBank.</p><p><b>RESULTS</b>Fifteen sequence variants were discovered, which included 1 missense mutation, 1 synonymous mutation and 13 intronic mutations. All of the 4 patients from the family were detected as having carried a novel heterozygous missense mutation (c.4193T>G, p.I1398S) in exon 50 of the COL1A1 gene. The father of the proband has carried the same mutation but had a normal phenotype. The same mutation was not found in other healthy members of the family.</p><p><b>CONCLUSION</b>The OI type of this family may have been autosomal dominant with incomplete penetrance or autosomal recessive associated with COL1A1 gene mutations.</p>
Subject(s)
Adolescent , Female , Humans , Male , Young Adult , Amino Acid Sequence , Asian People , Genetics , Base Sequence , China , Collagen Type I , Genetics , DNA Mutational Analysis , Family Health , Genetic Predisposition to Disease , Ethnology , Genetics , Heterozygote , Mutation , Osteogenesis Imperfecta , Ethnology , Genetics , Pedigree , Penetrance , Sequence Homology, Amino AcidABSTRACT
Objective To study the role of adiponectin (ADP) postconditioning on myocardial ischemia reperfusion injury (MIRI) in rats .Methods SD rats were divided randomly into 3 groups :⑴Group Sham were processed identically except the left anterior descending coronary artery(LAD) and was not ligated;⑵ Group MIRI were subjected to LAD occlusion for 30 min and reperfusion for 120 min;⑶ Group ADP were subjected to ADP injection before reperfusion .The titer of lactate dehydrogenase (LDH) ,cardiac troponin I(cTnI) and malondialdehyde(MDA)in plasma were observed .The levels of superoxide dismutase(SOD) and malondialdehyde(MDA)in myocardial tissue were observed .The results of HE staining and electrocardiograms(ECG) was ob‐served .Results Compared with Group Sham ,LDH ,cTnI and MDA in plasma in Group MIRI increased (P<0 .05);Compared with Group MIRI ,LDH ,cTnI and MDA in plasma in Group ADP declined (P<0 .05);Compared with Group Sham ,SOD decreased and MDA increased in myocardial tissue in Group MIRI (P<0 .05);Compared with Group MIRI ,SOD increased and MDA decreased in myocardial tissue in Group ADP (P<0 .05) .The myocardial injury was serious in Group MIRI while it was lightened in Group ADP .There were acute ischemia ECG change in Group MIRI while it was slight in Group ADP .Conclusion ADP postconditioning is a protective factor against MIRI in rats ,it is related to eliminating free radicals and alleviating the damage of lipid peroxidation .
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Objective To study the role of adiponectin (ADP)post-conditioning in alleviating myocardial ischemia reperfusion injury (MIRI) in 3-week old rats.Methods SD rats (3-week old) were randomly divided into 4 groups by random digits table (n =6):sham group was processed identically except that the left anterior descending coronary artery(LAD) was not ligated;MIRI group was subjected to occlusion of the LAD followed by reperfusion,occlusion for 30 min and reperfusion for 120 min;ADP group was subjected to injection of ADP into femoral vein before reperfusion;LY294002 group (ADP post-conditioning and LY294002) was subjected to injection of ADP and LY294002 into femoral vein before reperfusion.The titer of lactate dehydrogenase(LDH),cardiac troponin I(cTnl) and malondialdehyde(MDA) in plasma were observed.The levels of superoxide dismutase (SOD)and MDA in myocardial tissue were observed.Results The levels of LDH,cTnI and MDA in plasma of MIRI group was (732.11 ± 111.29) IU/L,(38.05 ± 6.17) g/L and (4.49 ± 0.17) nmol/L,respectively,compared with sham group,the levels of LDH,cTnI and MDA in plasma of MIRI group increased obviously(all P ＜ 0.05);the levels of LDH,cTnI and MDA in plasma of ADP group were (581.72 ± 68.41) IU/L,(20.70 ± 5.43) g/L and (3.10 ± 0.20) nmol/L,respectively;compared with MIRI group,the levels of LDH,cTnⅠ and MDA in plasma of ADP group declined significantly (all P ＜0.05);the levels of LDH,cTnI and MDA in plasma of LY294002 group were (701.10 ±99.59) IU/L,(33.13 ± 4.32) g/L and (4.19 ± 0.46) nmol/L,compared with ADP group,the levels of LDH,cTnI and MDA in plasma of group LY294002 increased remarkably (t =2.477,1.804,2.961,all P ＜ 0.05).Compared with sham group,the SOD level decreased and the MDA level increased in myocardial tissue of MIRI group(all P ＜ 0.05);compared with MIRI group,the SOD level increased and the MDA level decreased in myocardial tissue of ADP group (all P ＜ 0.05);compared with ADP group,the SOD level decreased and the MDA level increased in myocardial tissue of LY294002 group (all P ＜ 0.05).Conclusions ADP postconditioning is perhaps a protective factor for alleviating myocardial ischemia reperfusion injury in 3-week-old rats,the protective effect is perherps related to alleviating the damage of the lipid peroxidation by signaling pathway of adiponectin/phosphoinositide-3 kinase/protein kinase B.
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This article is mainly about the application status and current problems of multimedia technology in experiment teaching of human parasitology. It also discusses how to improve the application of multimedia technology in experiment teaching of human parasitology. Several aspects were discussed, such as discussion about cases, construction and application of multimedia resource database and abundant living teaching.
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BACKGROUND: Neural behavior is a sensitive parameter for predicting abnormal central nervous growth that is resulted from multiple factors. Therefore this study was designed to explore the influence of hypothermia and cigarette smoke exposure during pregnancy on neural behavioral growth of neonatal rats.OBJECTIVE: To study the influence of hypothermia and cigarette smoke exposure on neural behavioral growth of neonatal rats.DESIGN: Randomized case control study based on experimental animals. SETTING: Obstetric and Gynecological Department , Third Affiliated Hospital of Xinxiang Medical College; Cytobiological Department of Xinxiang Medical College.MATERIALS: Totally 270 healthy unpregnant SD rats were obtained, including 180 males with body mass of 190- 210 g, and 90 female rats with body mass of 225-275 g. Rats were raised with granulated feed and drinking water routinely in room of 25 ℃ with natural sunlight. Male and female rats in estrus were put in the same cage overnight in proportion of 2: 1, pregnancy was confirmed if vaginal bolt was observed the following morning. Totally 160 pregnant rats were obtained and randomly divided into 16 groups that were exposed to hyperthermia, cigarette smoke or their combination and by this way, earlier reflex, learning and memory of neonatal rats were observed after natural delivery,INTERVENTIONS: From the second day of pregnancy, rats in 37 ℃, 41 ℃,42 ℃ hyperthermia combining cigarette group received subcutaneous injection of 1 mL smoke hydrotrope every other day, while rats in 25 ℃ control group and 37 ℃, 41 ℃, 42 ℃ single hyperthemia groupwere given 2.0 mL double distilled water every day for totally 7 times. From the pregnancy of 10 days, pregnant rats were put into incubator, and rats anus temperature should be kept respectively at(37 ±0.5) ℃, (41 ±0.5)℃, (42 ±0.5)℃in the 37 ℃, 41 ℃, 42 ℃ of single hyperthemia groups and the temperature should last for 2.0 minutes; nats of 37 ℃, 41 ℃, 42 ℃hyperthemia combining cigarette group received the same treatment and were divided into four subgroups with the duration of 0. 5, 1.0, 1.5, 2.0 minutes respectively;rats in 25℃ control group were not exposed to hyperthermia. Rats were then singly raised from the pregnancy of 18 days for natural delivery. Pregnant days, number of neonatal rat and death rats were recorded, and visible malformation was observed. The average body masses of each cote of neonatal rats were measured every week. Time of eye-opening, ear-opening, hair-growing and teething were observed for assessing their physical growth. Reflex and sensory function of neonatal rats, such as planar tuning, spatial turning, visual orientation and auditory surprise was observed at 3, 7, 12, 16 days after birth respectively; The mean targeting time of each cote was used as reference for assessing their feflex. Y-lybirinth test was used for assessing learning and memory function of neonatal rats(30 days after birth).MAIN OUTCOME MEASURES: ① Main outcomes: Reflex and sensory, such as planar tuning, spatial turning, visual orientation and auditory surrise. ② Secondary outcomes: Influence of hyperthemia and cigarette exposure on learning memory function of neonatal rats.RESULTS: For hyperthermia group(41C and 42C), targeting time of neonatal rat physical growth(eye-opening, ear-opening, hair-growing and teething) and reflex sensory function(planar tuning, spatial turning, nvisual orientation and auditory surprise), as well as learning and memory(minute) were obviously delayed in contrast with those of the control group and 37 C group(χ2 = 11.34, P ＜0.01 ); meanwhile, longer hyperthermia exposure (1.5 minutes) combined with cigarette smoke had supplementary effect on the above neural behaviors, which was significantly different from that of single hyperthermia group(χ2=10.29, P＜0.01).CONCLUSION: Abnormal neural behavior of neonatal rats, such as growing retardation, learning and memory obstacle could be induced by the combination of longer hyperthemia exposure and cigarette smoke.