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Objective:To summarize the therapeutic effect of deep brain stimulation (DBS) for dystonia.Methods:Detailed clinical information and peripheral blood of children with dystonia at Peking University First Hospital from April 2017 to July 2020 were collected.The motor scores of Burke-Fahn-Marsden Dystonia Rating Scale were recorded of the dystonia before and after the treatment of DBS.Whole-exome sequencing was performed on children with dystonia.Then the effect of DBS was evaluated.Results:A total of 32 cases of patients with dystonia treated with DBS were enrolled, including 16 males and 16 females.Twelve cases were treated with globus pallidus internus DBS, and 20 cases were treated with subthalamic nucleus DBS.Twenty cases (62.5%) with pathogenic gene mutations were detected.Pathogenic variants in PANK2 (9 cases), KMT2B(3 cases), GNAO1 (2 cases), GCDH (2 cases), PINK1(1 case), NDUFAF6(1 case), DYT27(1 case) and ADCY5(1 case) were found.The follow-up period was 1 month to 3 years and 8 months.Only 1 case had local infection due to improper home care.The postoperative improvement was 5.66%-95.92%. Conclusions:All patients have a certain degree of relief after DBS without obvious adverse reactions.DBS is an effective treatment for pediatric dystonia.
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Objective:This study aims to provide scientific evidence for prevention and treatment of iodine deficiency disorders through monitoring the iodine nutrition status of children and pregnant women in Shaanxi Province.Methods:Totally 110 counties (cities, districts) in Shaanxi Province in 2019 were surveyed. Each of the counties (cities, districts) was further divided into five sampled regions along five different geographic directions: east, west, south, north and middle. From each region, one town was selected and then one primary school was selected from each town. Finally, there were a total of 42 non-boarding students aged 8 - 10 years old (age and gender balanced) selected from each school, who would be tested household salt iodine's level and urinary iodine's level. Also, we did the same test for 21 pregnant women who were selected from each town randomly. Additionally, we examined the children's thyroid by B-scan ultrasonograph in 39 counties (cities, districts).Results:A total of 23 101 salt and urine samples were collected from children aged 8 - 10 years old, the average of salt iodine content of the children' family was (24.07 ± 3.71) mg/kg; the consumption rate of qualified iodized salt was 97.55% (22 536/23 101); the median urinary iodine was 211.68 μg/L; and the thyroid goiter rate (TGR) was 1.50% (123/8 191). A total of 11 555 salt and urine samples from pregnant women were collected, the salt iodine content was (24.05 ± 3.66) mg/kg; and the consumption rate of qualified iodized salt was 97.57% (11 274/11 555); the median urinary iodine was 182.74 μg/L.Conclusions:In 2019, the iodine nutrition of children in Shaanxi Province is in the super appropriate level, and the iodine nutrition of pregnant women is appropriate. The iodine content of edible salt can be adjusted. It is suggested that pregnant women should be supplied special iodized salt.
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Objective To study the relationship between hypertensive cerebral hemorrhage and microbleeds by analyzing the characteristics of magetic susceptibility-weighted imaging.Methods Fifty-one patients with mild hypertensive cerebral hemorrhage admitted to Shenzhen Nanshan District No.6 People's Hospital for MRI (T1WI,T2WI and T2FLAIR),susceptibility-weighted imaging,and magnetic resonance angiography from June 2016 to June 2017 were included in this study.Their MRI data were analyzed.Results Multiple foci of microbleeds and small vessel hyperplasia were detected in hemorrhage regions of the 51 patients included in this study,including >2 foci of microbleeds in intracranial basal area,thalamus,brain stem and cerebellar area of 40 patients (78.4%),and cerebral small vessel hyperplasia and VR space enlargement in 11 patients (21.6 %).Magnetic resonance angiography showed cerebral middle artery and basal artery atheroclerosis in 15 patients but no vascular dissection,stenosis,aneurysm and vascular malformation in the other patients.Conclusion MRI can show the pathological changes in cerebral blood vessels of hypertensive hemorrhage patients,including cerebral microbleeds,cerebral small vessel hyperplasia and VR space enlargement.
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Objective@#To study the mutational characteristics of KCNT1 and its clinical features in children with early-onset epileptic encephalopathy.@*Methods@#Retrospective analysis of clinical data of 175 children with early onset epilepsy from the Department of Pediatrics at Peking University First Hospital from January 2012 to December 2017. Gene-based analysis was performed on children with targeted capture second-generation sequencing and the source of mutations was verified by PCR-Sanger. The clinical features of children with KCNT1 mutation were summarized.@*Results@#In 175 infants with early-onset epileptic encephalopathy, 6 children were found to have KCNT1 mutations, all of which were new mutations with an overall mutation rate of 3.4% (6/175). All the mutations were missense mutations. The age of onset was from 2 days to 32 days. Five children were diagnosed with epilepsy of infancy with migrating focal seizure, one case was diagnosed with epilepsy, focal seizures, focal seizures with generalization. A total of 6 children were treated with multi-antiepileptic drugs. The disease in 4 patients were partially controlled, while in 2 patients, the disease was not significantly alleviated. One patient died of "severe pneumonia" at one year and 4 months of age. Then, four cases were treated with quinidine. The seizure frequency had no change in 3 cases, the frequency decreased and then relapsed in 1 case. The case once ketogenic diet and failed. Ketogenic diet treatment was applied to 5 cases, no significant effect was achieved. All the 6 patients had severe developmental delay. They could not sit alone, follow the light and objects and had no language.@*Conclusions@#The mutation of KCNT1 gene is mainly de novo. The onset of the disease was early, and mostly occurs in neonate and early infancy. The main seizure type was epilepsy of infancy with migrating focal seizure. Patients usually had severe psychomotor developmental delay. Antiepileptic drugs are ineffective. The efficacy of quinidine was not significant. Though, it still need studies on a large sample.
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<p><b>OBJECTIVE</b>To delineate the clinical and genetic characteristics of patients with Allan-Herndon-Dudley syndrome (AHDS).</p><p><b>METHODS</b>Genetic testing was carried out by next generation sequencing on 117 patients featuring intellectual disability and developmental delay. Clinical information including clinical manifestation, brain magnetic resonance imaging(MRI), thyroid hormone levels, and electrocardiogram was collected for those with SLC16A2 mutations.</p><p><b>RESULTS</b>Five male patients with SLC16A2 gene mutations were identified, including 2 affected brothers and 3 sporadic cases. The ages of the patients ranged from 8 months to 8 years. All patients presented with severe intellectual disability and developmental delay including poor head control, inability to sit independently, no speech, and poor response to external stimuli. All patients presented with hypotonia, dystonia, and positive pyramidal signs. Three patients had sinus tachycardia. All patients had abnormal thyroid hormone levels with elevated free triiodothyronine (FT), decreased free tetraiodothyronine(FT), and normal thyroid stimulating hormone (TSH). Brain MRI on 3 patients showed delayed myelination. Among the 3 sporadic patients, 2 carried de novo mutations including c.61G to T(p.E21X) and c.695_699delATGGT(p.N232SfsX7), respectively, 1 carried a c.42delC(p.W15GfsX69)mutation, which was inherited from his heterozygous mother. A nonsense mutation (c.916C to T, p.Q306X) was discovered in the two brothers, for which their mother was heterozygous.</p><p><b>CONCLUSION</b>AHDS is characterized by severe psychomotor developmental delay as well as congenital hypotonia, dystonia and positive pyramidal signs. Affected males may present with distinctive thyroid hormone abnormalities including increased FT and low FT accompanied by normal TSH. Delayed meylination of white matter is common. It is an X-linked mental retardation caused by SLC16A2 gene mutations.</p>
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Objective To explore the mechanism of the formation of glioma cells derived vessels (GCDV).Methods The tubular formation assay was performed on 3D cell cultures of U87,U251,U373,SF295,T98G,SKMG-4 and C6 glioma cell lines.The expression of Notch1 、Dll4 were examined by western blot analysis.Result The mean number of vasculogenic channels of cell lines C6,U373,U87,T98G,SF295,U251 and SKMG-4 per area (100×) were 25.2±5.0,36.4±3.2,19.0±2.2,12.6±2.4,4±2.2,0.2±0.4 and 0,respectively.The relative protein densities of Notchl in U87,U251,T98G,SF295,SKMG-4,C6 and U373 were 0.34,0.21,0.79,0.04,0.28,1.75 and 1.19,which were significantly related with the tubular formation ability (P<0.05).However,the expression of Dll4 was not associated with tubular formation ability (P>0.05).Conclusion Notch1 may play a key role in tubular formation of glioma cells while the role of Dll4 in the process needs further study.
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The English Title for the above article, as appeared in our June 2015 issue, should be corrected as "Advance in research on MECP2 duplication syndrome".
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Brain ischemic tolerance refers to endogenous brain protective mechanism during severe ischemic injury of the body. Ischemia preconditioning is an effective mean to induce brain ischemic tolerance. However, the invasive and ethical limitation made the application of ischemic preconditioning difficult in the clinical practice. Studies found that extracellular signal regulated kinase (ERK) signaling pathway played an important role in the formation of brain ischemic tolerance. Meanwhile, brain ischemic tolerance induced by traditional Chinese medicine (TCM) had its unique advantages. This article reviewed effects of ERK signaling pathway in the inducing of brain ischemic tolerance and TCM intervention in recent years.
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Methyl-CpG-binding protein 2 gene (MECP2; OMIM 300005) is located at chromosome Xq28. Mutations of the gene including point mutation, duplication and deletion can lead to severe neurodevelopmental disorders. The disease caused by duplication of the entire MECP2 gene, named as MECP2 duplication syndrome, is mostly seen in males. The clinical manifestation of this syndrome include mental retardation, hypotonia, poor speech development, recurrent infection, progressive spasticity, epilepsy, autism or autistic features with or without midface hypoplasia. Most patients have inherited the duplication from their unaffected mothers, with only a few cases having de novo mutation. Females with duplicated MECP2 gene are typically asymptomatic because of a skewed X chromosome inactivation (XCI) pattern. Proposed mechanisms of this genomic rearrangement include fork stalling and template switching (FoSTeS) and microhomology mediated break-induced replication (MMBIR). Since no effective treatment is available for this disease, proper genetic counseling and prenatal diagnosis for the high risk families are crucial.
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Animais , Feminino , Humanos , Masculino , Duplicação Gênica , Deficiência Intelectual Ligada ao Cromossomo X , Genética , Metabolismo , Proteína 2 de Ligação a Metil-CpG , Genética , MetabolismoRESUMO
This study was aimed to explore the function of c-Jun N-terminal kinase (JNK) signaling pathway in the induction of brain ischemic tolerance, and observe the function of Shu-Xue Tong-Mai (SXTM) capsule pretreatment. Ischemic preconditioning was performed for 3 min on rats to induce cerebral ischemic tolerance. Rat model of cere-bral ischemia reperfusion (the ischemia pretreatment group, I/R group) was established 24 h later. Western blot was used to detect the protein expression of JNK and phosphorylation of c-Jun N-terminal kinase (P-JNK), comparing to the expression with the sham operation group, I/R group and SXTM capsule group. Tunel method was applied to de-tect the apoptosis of neurons. Relationship between expression of JNK, P-JNK and apoptosis of neurons was also studied. The results showed that compared with the model group, expressions of P-JNK in ischemia preconditioning group and SXTM group were declined significantly (P < 0.05); and the apoptosis of neurons quantity was also de-clined (P< 0.05). It was concluded that ischemia preconditioning can decrease the apoptosis of neurons in cerebral ischemia reperfusion, and improve neurologic function. Its mechanism related to the inhibition of JNK signaling path-way. SXTM capsule pretreatment can protect the cerebral by inhibiting the JNK signaling pathway.
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This study was aimed to investigate the theoretical basis of Jian-Shen Li-Shui (JSLS) formula. Knowledge of acute phase of cerebral hemorrhage in ancient Chinese medicine literature, modern pathophysiology theories, experimental researches and clinical results were studied, in order to discuss theoretical basis of JSLS formula. The results showed that JSLS formula embodied basic theories of traditional Chinese medicine (TCM) and experiences of physicians from different generations. It also reflected modern pharmacology research results. It was supported by animal experiments and clinical research results. It was concluded that JSLS formula was in accordance with essence of TCM syndrome differentiation. There were enough evidences for the formation of the formula. It was worthy of further study.
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Objective To observe self-made cationic nanobubbles as non-viral gene carrier to transfer green fluorescent protein reporter gene into HepG2 cell in vitro.Methods Cationic nanobubbles(PNB) were prepared by sonicating liposomes、polyethylenimine and perfluoropropan.The surface potential and the size of nanobubbles were assessed by laser particle analyzer.HepG2 cells were incubated with DNA,nanobubbles with or without ultrasound exposure.The transfection efficiency was evaluated by flow cytometer and the cell viability by cell counting Kit-8.Results The mean diameter of PNB was (834.57 ± 6.4) nm and the surface charge was (4.15± 0.98)mV.The PNB-DNA complexes,which blocked by the Agarose gel electrophoresis,could effectively transfer HepG2 cells,and the ultrasound exposure could enhance the transfection efficiency further significantly (P < 0.05).Conclusions The new PNB could effectively combine with pDNA to enhance gene delivery and ultrasound exposure could improve its efficiency further in HepG2 cell in vitro.
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This study was aimed to evaluate effects of different production techniques of Shuxue Tongmai (SXTM) capsules for blood coagulation function and thrombosis formation among mice. The observation was made on the clot-ting time, bleeding time and instauration rate of collagen-adrenaline model of mice. The results showed that com-pared with SXTM II and Ⅲ production technique, the SXTM I production technique of the same dosage group can prolong the clotting time of mice significantly (P < 0.05), and increase the instauration rate of collagen-adrenaline model of mice significantly (P< 0.05). There was no significant difference on the bleeding time of mice between the SXTM I production technique of same dosage group and the saline group. It was concluded that the SXTM had an-ticoagulative and antithrombotic effects. And the SXTM I production technique receives better effects.
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Objective To investigate whether ultrasound-mediated microbubble destruction(UMD) could enhance cationic liposome (CL) induced plasmid DNA delivery or not,and optimize the transfection conditions.Methods Multiple parameters were explored to obtain the optimal transgene efficiency by means of with or without serum in culture medium,various CL or nano-liposomal bubble(NB) concentrations,different time point of ultrasonic irradiation.The transfection efficiency was assessed by fluorescence microscopy and flow cytometer,and cell viability was evaluated by Cell Counting Kit-8 (CCK-8) assay.Results The serum could protect the cells but show little impact on transfection efficiency induced by CL.CL and plasmid DNA at a weight ratio of 4 ∶ 1 exhibited high transfection efficiency of (17.71-± 0.79)% and high cell viability of (91.28 ± 0.76) %.CL combining with ultrasonic irradiation at the time point of 1 hour could increase the transfection efficiency to (24.85 ± 0.78)% (P <0.01).Higher transfection rate (32.47 ± 4.01) % was obtained by adding NB at the concentration of 10 % (P <0.05).Conclusions UMD accompanied with CL could enhance gene delivery effectively,which would provide a new method for gene therapy.
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Objective To made a kind of nano-liposomal bubbles(NB) and observe its base physical properties and ultrasound contrast enhanced effect,and compared with SonoVue in vitro and in vivo.Methods The liposome was made with the method of reverse phase evaporation,and then the liposome was sonieated to prepare NB.After the physical properties of NB such as its morphous,average particle size,surface potential and concentration were observed and calculated,200 μl of saline and two contrast agents (NB and SonoVue) were injected into degassed PBS (10 ml) respectively to observe their enhancing effects.For in vivo study,a healthy rabbit heart and liver were imaged before and after intravenous injection of 2.0 ml/kg of saline and two contrast agents in succession to compare their dynamic enhancing effects in the grey scale imaging subjectively.Results The self-made NB distributed uniformly and its size ranged from 133.1 ~199.5 nm with a mean diameter of (171.60 ± 30.82) nm.Its surface potential and concentration were -(1.92± 0.65)mV and (3.8 ~ 5.6) × 108/ml individually.These basic characteristics were not observed changing dramatically after placement one week to one month under room temperature.The NB and SonoVue all displayed significantly enhancing effect comparing with saline no matter in vitro or in vivo.Conclusions The self-made NB are stable and distribute uniformly,which display the same contrast enhancing effect as SonoVue in vitro and in vivo.The self made NB would have a more potential use in ultrasound molecular imaging and gone or drug delivery.
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Objective Explore the value of video-assisted thoracoscopic extended thymectomy in the treatment of myasthenia gravis.Methods This is a prospective randomized control study.Fifty-four patients who were confirmed to be MG preoperatively from 2005 to 2008 were divided into VATS group(27 cases)and thoracotomy group(27cases).Thymectomy and dissection of all faity tissue anterior to pericardium were performed in both groups.Results When compared with thoacotomy group,VATS group had less blood loss,shorter postoperative hospital stay and time of postoperative chest drainge tube left.One patient was converted to open surgery because of the injury to the brachiocephalic vein.During a period of followed-up 624 months,symptom was improved in 81% of the patients in VATS group and 85% in thoractomy group(P>0.05).Conclusion Extened thymectomy with VATS is safe and feasible with the advantage of less invasion,less surgical trauma and pain,lower rate of complication and good curative effect.
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Objective To explore the effects of P85,microbubbles and ultrasound on plasmid DNA skeletal muscle gene transduction of mice in vivo. Methods Plasmid encoding green fluorescent protein (GFP) ,which conjugated with 0.05% P85 and/or microbubbles, 10% Optison,was injected into the tibialis anterior(TA) muscle of mice with or without ultrasound irradiation (1 MHz, 1 W/cm2 2 min,20% duty cycle). Mice were killed 1 week after injection. The TA muscles were removed and snap-frozen immediately in isopentane cooled by liquid nitrogen and sections 7 μm thick were cut at intervals. One set of sections mounted with DAPI were used to assess the transfection efficiency by counting the number of GFP-positive fibers under fluorescence microscopy,and the other set of sections were stained with haematoxylin and eosin to assess the tissue damage area. Results The P85 and Optison significantly enhanced the plasmid DNA skeletal muscle gene delivery in vivo separately (P<0.01, P<0.05).Ultrasound exposure could significantly enhance the efficiency of P85 induced gene delivery(P<0.01) but not of Option(P>0.05).The gene delivery efficiency induced by P85 was higher than that by Optison no matter with or without ultrasound irradiation(P<0.01). When the P85 conjugated with Optison, they could further significantly enhance gene delivery efficiency with ultrasound exposure (P<0.01). Meanwhile, ultrasound exposure could increase the muscle damage areas in the groups with microbubbles (P<0.01). Conclusions The P85,microbubbles and ultrasound exposure display synergistic effect to enhance plasmid DNA transduction in skeletal muscle of mice in vivo.
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The value of color Doppler flow imaging (CDFI) and intravenous contrast-enhanced ultrasound (CEUS) for assessing the transplanted liver and early diagnosing complications by examining hemodynamic changes was discussed. Seventy-five patients with orthotopic liver transplantation (OLT) underwent CDFI. The following parameters were measured: peak systolic velocity (PS), resistance index (RI) and Doppler perfusion index (DPI) of the hepatic artery (HA), time average velocity (TAV) of portal vein (PV) and velocity of hepatic vein (HV) in different stages postoperation. And 11 patients of them received CEUS. Thirty healthy subjects were enrolled as controls. The results showed that: (1) In 23 patients without obvious complications, TAV of PV within 15 days post-operation was significantly higher than in controls (P<0.05), PS and DPI of HA within 7 days postoperation were lower, but RI was higher than in controls (P<0.05); (2) When the hepatic artery thrombosis (HAT) occurred, PS and DPI of HA were obviously decreased, but TAV of PV significantly increased like a high saw-tooth wave; (3) While rejection occurred, both TAV of PV and PS of HA were decreased with the increase in RI of HA, and the triphasic wave of HV disappeared and displayed as saw-tooth wave; (4) The incidence of biliary complications in liver transplantation was increased when DPI was reduced; (5) Seven cases of hepatic carcinoma relapse after OLT demonstrated hyperecho in the arterial phase and hypoecho in the portal and later phase on CEUS; (6) In 2 cases of HA thrombus, there was no visualized enhancement in arterial phase of CEUS, but enhancement during the portal vein and parenchymal phase. It was concluded that the hemodynamic changes of PV, HA and HV in the transplanted liver are valuable for assessing the transplanted liver and early diagnosing complications on CDFI and CEUS.
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Ductos Biliares/patologia , Meios de Contraste/administração & dosagem , Hemodinâmica , Artéria Hepática/patologia , Infusões Intravenosas/métodos , Transplante de Fígado/efeitos adversos , Transplante de Fígado/métodos , Transplante de Fígado/diagnóstico por imagem , Perfusão , Complicações Pós-Operatórias , Ultrassonografia/métodos , Ultrassonografia Doppler/métodosRESUMO
The focal hepatic lesion caused by local injection of absolute alcohol in rats was evaluated with ultrasonic contrast agent and pathologic examination. Twenty adult Wistar rats weighing about 200 g were injected with absolute alcohol (0.05-0.1 mL each one) on the exterior left lobe of the liver under the monitoring of ultrasound. Pulse inversion harmonic imaging was used to evaluate the focal lesion after bolus injection of ultrasonic contrast agent (0.05 mL/200 g) through caudal vein.Seven days later, the focal lesion was studied again as before. The exterior left lobe of liver with focal lesion was incised and underwent pathologic examination. The results showed that all of the focal lesions could be defined clearly after bolus injection of the ultrasonic contrast agent under the mode of pulse inversion harmonic imaging. There was good correlation between the size of the focal lesion measured by ultrasound on the 7th day after the "ablation" under the mode of pulse inversion harmonic imaging and that gotten by pathologic examination (P=0.39). The focus size measured by ultrasound right after the ablation was larger than that gotten by pathologic examination (P= 0.002). It was concluded that ultrasonic contrast agent plus pulse inversion harmonic imaging could be used to assess the size of the focal hepatic lesion caused by local injection of absolute alcohol in rats.
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The focal hepatic lesion caused by local injection of absolute alcohol in rats was evaluated with ultrasonic contrast agent and pathologic examination. Twenty adult Wistar rats weighing about 200 g were injected with absolute alcohol (0.05-0.1 mL each one) on the exterior left lobe of the liver under the monitoring of ultrasound. Pulse inversion harmonic imaging was used to evaluate the focal lesion after bolus injection of ultrasonic contrast agent (0.05 mL/200 g) through caudal vein. Seven days later, the focal lesion was studied again as before. The exterior left lobe of liver with focal lesion was incised and underwent pathologic examination. The results showed that all of the focal lesions could be defined clearly after bolus injection of the ultrasonic contrast agent under the mode of pulse inversion harmonic imaging. There was good correlation between the size of the focal lesion measured by ultrasound on the 7th day after the "ablation" under the mode of pulse inversion harmonic imaging and that gotten by pathologic examination (P = 0.39). The focus size measured by ultrasound right after the ablation was larger than that gotten by pathologic examination (P = 0.002). It was concluded that ultrasonic contrast agent plus pulse inversion harmonic imaging could be used to assess the size of the focal hepatic lesion caused by local injection of absolute alcohol in rats.