We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (pl2-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gra...We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (pl2-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks' gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der (6) t (6;12) (p24;p12) mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy展开更多
Objective : To make further improvement of outcome of patients with polytrauma and coma. Methods: The data of 3 361 patients (2 378 males and 983 females, aged from 5-95 years, 38. 2 years on average) with severe...Objective : To make further improvement of outcome of patients with polytrauma and coma. Methods: The data of 3 361 patients (2 378 males and 983 females, aged from 5-95 years, 38. 2 years on average) with severe polytrauma and coma admitted to Chongqing Emergency Medical Center (Level I Trauma Center ), Chongqing, China, from November 1978 to December 2004 were analyzed retrospectively in this study. Results: The overall survival rate and mortality were 93.2%(3 133/3 361 )and 6.8%(228/3 361 ), respectively. The mortalities in patients with coma duration 〈 1 hour and combined with neural dysfunction and in patients with coma duration ≥ 1 hour and combined with or without neural dysfunction were signifieantly higher than that of those with coma duration 〈 1 hour but without neural dysfunction [39.5%(136/344)vs 3.0%(92/3 017), P 〈0.01]. There existed significant differences in GCS, ISS, and revised trauma score (RTS) between the death group and the survival group (P 〈 0. 01 ). RTS was in good correspondence with patient' s pathophysiological status and outcome in patients with multiple trauma and coma for different groups of systolic blood pressure (SBP). The mortality in patients with SBP 〈90 nun Hg was significantiy higher than that of those with SBP ≥ 90 mm Hg [ 33. 3 % (68/204) vs5.1%(160/3 157), P 〈0.01]. The mortality in polytranma patients combined with serious head injury (AIS≥3) was8.2%, among which, 76.5% died from lung complications. The morbidity rate of lung complications and mortality rate increased in patients with head injury complicated with chest or abdomen injury (23.9%, 61.1% vs 27.3 %, 50.0 % ). The mortality reached up to 61.9 % in patients complicated with severe head, chest and abdomen injuries simultaneously. Conclusions: It plays a key role to establish a fast and effective trauma care system and prompt and definite surgical procedures and to strengthen the management of complications for improving the survival rate of patients with severe palytrauma and coma.展开更多
Objective:To observe the effects of electroacupuncture(EA)on the protein and gene expressions of Bax,Caspase-3 and Bcl-2 in cerebral cortex of type 2 diabetic rats with cognitive impairment(CI),and to explore the mech...Objective:To observe the effects of electroacupuncture(EA)on the protein and gene expressions of Bax,Caspase-3 and Bcl-2 in cerebral cortex of type 2 diabetic rats with cognitive impairment(CI),and to explore the mechanism of EA in improving the learning and memory abilities.Methods:A total of 100 Sprague-Dawley(SD)rats were divided into a normal group(n=10)and a model group(n=90)by random number table method.Rats in the model group were intraperitoneally injected with a small dose of streptozotocin(STZ)to establish the type 2 diabetic models,after being fed with high-fat and high-sugar diet for 1 month.Twenty CI rats were selected from the 50 successful model rats by the Morris water maze(MWM)test and randomly divided into a model group and an EA group according to the blood glucose level and MWM data(n=10).Rats in the EA group received acupuncture at Zusanli(ST 36),Neiting(ST 44)and Yishu(Extra),of which Zusanli(ST 36)and Neiting(ST 44)were stimulated by EA apparatus,20 min/time,once a day for 6 d a week and 4 consecutive weeks.The rats in the model and the normal groups were fixed without treatment.After 4-week treatment,the random blood glucose level of the rats was measured;the learning and memory abilities of rats were measured by MWM;terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling(TUNEL)assay was used to detect apoptotic cells;Western blot(WB)and real-time quantitative polymerase chain reaction(RT-qPCR)were used to detect the protein and gene expressions of Bax,Caspase-3 and Bcl-2 in cerebral cortex.Results:After modeling,the random blood glucose level and the escape latency tested by MWM were significantly increased,and the number of crossing the platform tested by the MWM was decreased in the EA and model groups,and were significantly different from those in the normal group(P<0.05 or P<0.01),while the differences between the model group and the EA group were not statistically significant(all P>0.05).After 4-week treatment,the random glucose level and the escape latency tested by MWM were significantly increased(both P<0.05),and the number of crossing the original platform tested by the MWM was significantly reduced(P<0.01),the protein and gene expressions of Bax and Caspase-3 were significantly increased(all P<0.001),the protein and gene expressions of Bcl-2 were significantly reduced(both P<0.001),and the number of neuron apoptosis was significantly increased(P<0.001)in the model group than in the normal group;the random blood glucose level was significantly reduced(P<0.05),the escape latency tested by MWM was significantly shortened(P<0.05),and the number of crossing the original platform tested by MWM was significantly increased(P<0.05),the protein and gene expressions of Bax and Caspase-3 were significantly reduced(all P<0.001),the protein and gene expressions of Bcl-2 were significantly increased(both P<0.001),and the number of neuron apoptosis was significantly reduced(P<0.001)in the EA group than in the model group.Conclusion:EA can improve the learning and memory damages induced by type 2 diabetic model rats with CI;the action mechanism may be achieved via anti-apoptosis.展开更多
Objective:To investigate color and microvascular blood flow of the tongue in the mini-swine with immune hepatic injury. Methods: Six Chinese mini-swine for experimental use, 3 males and 3 females, were randomly divide...Objective:To investigate color and microvascular blood flow of the tongue in the mini-swine with immune hepatic injury. Methods: Six Chinese mini-swine for experimental use, 3 males and 3 females, were randomly divided into two groups, normal group and model group, 3 swine in each group. The swine in the model group was administrated by injection of 5 mg/kg ConA into the vein of auricular back, once every other day, 3 times each week, for 2 weeks in total. The animal in the control group was administrated with equal volume of saline. At 9 o’clock in the morning of the 15th day of the experiment, each swine was anesthetized with intramuscular injection of 9 ml 2.5% pentobarbital sodium and 3 ml Maleate, and then picture of the tongue was taken, microvascular blood flow on the tongue and the liver was detected with a laser Doppler blood flowmeter; Blood was taken from the precaval vein. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST),total bilirubin (Tbil) and total protein (TP) were determined; Pathological changes of the liver and tongue tissues were investigated by means of HE staining; Serum TNF-α content was detected with ELISA assay. Results: In the mini-swine with immune hepatic injury induced by ConA, the tongue color showed cyanotic color, microvascular perfusion in the liver and the tongue, and partial pressure of oxygen in the tongue tissue significantly decreased; and the microcirculatory perfusion of the tongue was significantly correlated with that of the liver and the HIS color spatial value of the tongue; Serum TNF-α content significantly increased. Conclusion: The mini-swine with immune hepatic injury induced by ConA conforms to pathological characteristics of immune hepatic injury. Formation of the cyanotic tongue is related with microcirculatory disturbance of the tongue, which can indirectly reflect hepatic microcirculatory state in the immune hepatic injury.展开更多
文摘We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (pl2-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks' gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der (6) t (6;12) (p24;p12) mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy
文摘Objective : To make further improvement of outcome of patients with polytrauma and coma. Methods: The data of 3 361 patients (2 378 males and 983 females, aged from 5-95 years, 38. 2 years on average) with severe polytrauma and coma admitted to Chongqing Emergency Medical Center (Level I Trauma Center ), Chongqing, China, from November 1978 to December 2004 were analyzed retrospectively in this study. Results: The overall survival rate and mortality were 93.2%(3 133/3 361 )and 6.8%(228/3 361 ), respectively. The mortalities in patients with coma duration 〈 1 hour and combined with neural dysfunction and in patients with coma duration ≥ 1 hour and combined with or without neural dysfunction were signifieantly higher than that of those with coma duration 〈 1 hour but without neural dysfunction [39.5%(136/344)vs 3.0%(92/3 017), P 〈0.01]. There existed significant differences in GCS, ISS, and revised trauma score (RTS) between the death group and the survival group (P 〈 0. 01 ). RTS was in good correspondence with patient' s pathophysiological status and outcome in patients with multiple trauma and coma for different groups of systolic blood pressure (SBP). The mortality in patients with SBP 〈90 nun Hg was significantiy higher than that of those with SBP ≥ 90 mm Hg [ 33. 3 % (68/204) vs5.1%(160/3 157), P 〈0.01]. The mortality in polytranma patients combined with serious head injury (AIS≥3) was8.2%, among which, 76.5% died from lung complications. The morbidity rate of lung complications and mortality rate increased in patients with head injury complicated with chest or abdomen injury (23.9%, 61.1% vs 27.3 %, 50.0 % ). The mortality reached up to 61.9 % in patients complicated with severe head, chest and abdomen injuries simultaneously. Conclusions: It plays a key role to establish a fast and effective trauma care system and prompt and definite surgical procedures and to strengthen the management of complications for improving the survival rate of patients with severe palytrauma and coma.
文摘Objective:To observe the effects of electroacupuncture(EA)on the protein and gene expressions of Bax,Caspase-3 and Bcl-2 in cerebral cortex of type 2 diabetic rats with cognitive impairment(CI),and to explore the mechanism of EA in improving the learning and memory abilities.Methods:A total of 100 Sprague-Dawley(SD)rats were divided into a normal group(n=10)and a model group(n=90)by random number table method.Rats in the model group were intraperitoneally injected with a small dose of streptozotocin(STZ)to establish the type 2 diabetic models,after being fed with high-fat and high-sugar diet for 1 month.Twenty CI rats were selected from the 50 successful model rats by the Morris water maze(MWM)test and randomly divided into a model group and an EA group according to the blood glucose level and MWM data(n=10).Rats in the EA group received acupuncture at Zusanli(ST 36),Neiting(ST 44)and Yishu(Extra),of which Zusanli(ST 36)and Neiting(ST 44)were stimulated by EA apparatus,20 min/time,once a day for 6 d a week and 4 consecutive weeks.The rats in the model and the normal groups were fixed without treatment.After 4-week treatment,the random blood glucose level of the rats was measured;the learning and memory abilities of rats were measured by MWM;terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling(TUNEL)assay was used to detect apoptotic cells;Western blot(WB)and real-time quantitative polymerase chain reaction(RT-qPCR)were used to detect the protein and gene expressions of Bax,Caspase-3 and Bcl-2 in cerebral cortex.Results:After modeling,the random blood glucose level and the escape latency tested by MWM were significantly increased,and the number of crossing the platform tested by the MWM was decreased in the EA and model groups,and were significantly different from those in the normal group(P<0.05 or P<0.01),while the differences between the model group and the EA group were not statistically significant(all P>0.05).After 4-week treatment,the random glucose level and the escape latency tested by MWM were significantly increased(both P<0.05),and the number of crossing the original platform tested by the MWM was significantly reduced(P<0.01),the protein and gene expressions of Bax and Caspase-3 were significantly increased(all P<0.001),the protein and gene expressions of Bcl-2 were significantly reduced(both P<0.001),and the number of neuron apoptosis was significantly increased(P<0.001)in the model group than in the normal group;the random blood glucose level was significantly reduced(P<0.05),the escape latency tested by MWM was significantly shortened(P<0.05),and the number of crossing the original platform tested by MWM was significantly increased(P<0.05),the protein and gene expressions of Bax and Caspase-3 were significantly reduced(all P<0.001),the protein and gene expressions of Bcl-2 were significantly increased(both P<0.001),and the number of neuron apoptosis was significantly reduced(P<0.001)in the EA group than in the model group.Conclusion:EA can improve the learning and memory damages induced by type 2 diabetic model rats with CI;the action mechanism may be achieved via anti-apoptosis.
基金supported by a grant from Beijing Municipal Personnel and Organization Ministry (No.20071D0501800247)Natural Science Grant of Capital Medical University (No.2006ZR01)
文摘Objective:To investigate color and microvascular blood flow of the tongue in the mini-swine with immune hepatic injury. Methods: Six Chinese mini-swine for experimental use, 3 males and 3 females, were randomly divided into two groups, normal group and model group, 3 swine in each group. The swine in the model group was administrated by injection of 5 mg/kg ConA into the vein of auricular back, once every other day, 3 times each week, for 2 weeks in total. The animal in the control group was administrated with equal volume of saline. At 9 o’clock in the morning of the 15th day of the experiment, each swine was anesthetized with intramuscular injection of 9 ml 2.5% pentobarbital sodium and 3 ml Maleate, and then picture of the tongue was taken, microvascular blood flow on the tongue and the liver was detected with a laser Doppler blood flowmeter; Blood was taken from the precaval vein. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST),total bilirubin (Tbil) and total protein (TP) were determined; Pathological changes of the liver and tongue tissues were investigated by means of HE staining; Serum TNF-α content was detected with ELISA assay. Results: In the mini-swine with immune hepatic injury induced by ConA, the tongue color showed cyanotic color, microvascular perfusion in the liver and the tongue, and partial pressure of oxygen in the tongue tissue significantly decreased; and the microcirculatory perfusion of the tongue was significantly correlated with that of the liver and the HIS color spatial value of the tongue; Serum TNF-α content significantly increased. Conclusion: The mini-swine with immune hepatic injury induced by ConA conforms to pathological characteristics of immune hepatic injury. Formation of the cyanotic tongue is related with microcirculatory disturbance of the tongue, which can indirectly reflect hepatic microcirculatory state in the immune hepatic injury.