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1.
Chinese Journal of Perinatal Medicine ; (12): 332-338, 2022.
Artigo em Chinês | WPRIM | ID: wpr-933923

RESUMO

Objective:To study the ultrasonographic characteristics of embryos/fetuses with normal or abnormal central nervous system (CNS) from 7 to 13 +6 weeks of gestation using high resolution two-dimensional ultrasound combined with HD-live silhouette technology and provide a reference for early diagnosis of CNS abnormalities. Methods:Eighty normal embryos/fetuses during 7-13 +6 weeks and 41 fetuses with CNS malformations in early pregnancy during 11-13 +6 weeks were selected to observe the ultrasonographic features of embryos/fetuses with normal or abnormal CNS using transvaginal high resolution two-dimensional ultrasound and HD-live silhouette technology. Descriptive analysis was performed on the results. Results:From seven weeks of gestational age, high resolution two-dimensional ultrasound combined with HD-live silhouette technology can clearly and stereoscopically show the prosencephalon, mesencephalon and rhombencephalon. The rhombencephalon changed the most in the brain development of embryos. At nine weeks of gestation, cleared structures of pons curvature, the fourth ventricle and cisterna magna were observed. The developing cerebellum and the original Blake pouch cyst were seen at 10 weeks of gestation. From 11 to 13 +6 weeks, the most remarkable change was the choroid plexus of the fourth ventricle changed from perpendicular to parallel to the long axis of the neural tube. Of the 41 fetuses with CNS malformation, 16 (39.0%) were exencephaly, 11 (26.8%) were holoprosencephaly, five (12.2%) were encephalocele, four (9.7%) were anencephaly, three (7.3%) were fourth ventricle dilatation, and two (4.9%) were open spina bifida. Conclusions:High resolution two-dimensional ultrasound combined with HD-live silhouette technology can clearly and stereoscopically display the morphological changes in embryonic embryos/fetuses with development of normal CNS at 7-13 +6 weeks, which is helpful to better understand the origin of CNS embryonic abnormalities and provide diagnostic clues for the early detection of CNS abnormalities.

2.
Chinese Journal of Applied Clinical Pediatrics ; (24): 911-914, 2019.
Artigo em Chinês | WPRIM | ID: wpr-800104

RESUMO

Objective@#To investigate the correlation between clinical phenotype, electroencephalogram (EEG) characteristics and genotype in children with Angelman syndrome(AS).@*Methods@#A total of 103 children with AS at Department of Neurology, Children′s Hospital of Fudan University from June 2017 to June 2018, were included in this study.The information of clinical characteristics, EEG manifestations, genotypes as well as the epileptic outcome were collected retrospectively.The correlations between clinical phenotype, genotype, and epileptic outcome were evaluated.@*Results@#(1) Of the 103 cases, 48 were male (46.6%) and 55 were female (53.4%). (2) Genotypes on AS critical region were maternal chromosome 15q11.2-q13 [86.4%(89/103 cases)], paternal uniparental disomy [3.9%(4/103 cases)], imprinting defects [1.9%(2/103 cases)], and mutations in the maternal copy of UBE3A [7.8%(8/103 cases)]. (3) Apparent happy demeanor or smile and general developmental delay were observed in all AS children.Dyskinesia accounted for 98.1% (101/103 cases), followed by oral movement or suck disorders [97.1%(100/103 cases)] and abnormal posture [67.0%(69/103 cases)]. The proportion of acquired small head circumfe-rence or microcephaly, flat occiput or occipital groove and wide-spaced teeth were 61.2%(63/103 cases), 85.4%(88/103 cases) and 44.7%(46/103 cases), respectively.(4) Behavioral problems like fascination with water, sleep problems and feeding difficulties were found in 86.4%(89/103 cases), 89.3%(92/103 cases) and 85.5%(88/103 cases) of the children, respectively.Sleep disorders [94.4%(84/89 cases) vs.57.1%(8/14 cases)] and feeding difficulties [93.3%(83/89 cases) vs.35.7%(5/14 cases)] were more frequently seen in children with maternal absence group, compared those with no absence, and the differences were statistically significant (all P<0.05). (5) Epilepsy was present in 77.7% (80/103 cases) of children with onset age varying from 8 to 72 months and 80.8% (59/73 cases) were developing seizures prior to 3 years old.Children with maternal absence showed more multiple seizure types than those with no absence[41.7%(32/68 cases) vs.0(0 case)], and the difference was statistically significant(P<0.05). Children with well-controlled epilepsy had more atonic seizure, compared with those with poorly controlled seizure [48.3%(14/29 cases) vs.18.5%(4/27 cases)], and the difference was statistically significant(P<0.05).@*Conclusions@#Sleep disorders, feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence.Atonic seizure is easier to be controlled over other types of seizures.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 911-914, 2019.
Artigo em Chinês | WPRIM | ID: wpr-752325

RESUMO

Objective To investigate the correlation between clinical phenotype,electroencephalogram(EEG) characteristics and genotype in children with Angelman syndrome(AS). Methods A total of 103 children with AS at Department of Neurology,Children′s Hospital of Fudan University from June 2017 to June 2018,were included in this study. The information of clinical characteristics,EEG manifestations,genotypes as well as the epileptic outcome were collected retrospectively. The correlations between clinical phenotype,genotype,and epileptic outcome were evaluated. Results (1)Of the 103 cases,48 were male(46. 6﹪)and 55 were female(53. 4﹪).(2)Genotypes on AS criti﹣cal region were maternal chromosome 15q11. 2-q13[86. 4﹪(89/103 cases)],paternal uniparental disomy[3. 9﹪(4/103 cases)],imprinting defects[1. 9﹪(2/103 cases)],and mutations in the maternal copy of UBE3A[7. 8﹪(8/103 cases)].(3)Apparent happy demeanor or smile and general developmental delay were observed in all AS children. Dyskinesia accounted for 98. 1﹪(101/103 cases),followed by oral movement or suck disorders[97. 1﹪(100/103 cases)]and abnormal posture[67. 0﹪(69/103 cases)]. The proportion of acquired small head circumfe﹣rence or microcephaly,flat occiput or occipital groove and wide-spaced teeth were 61. 2﹪(63/103 cases),85. 4﹪(88/103 cases)and 44. 7﹪(46/103 cases),respectively.(4)Behavioral problems like fascination with water,sleep problems and feeding difficulties were found in 86. 4﹪(89/103 cases),89. 3﹪(92/103 cases)and 85. 5﹪(88/103 cases)of the children,respectively. Sleep disorders[94. 4﹪(84/89 cases)νs. 57. 1﹪(8/14 cases)]and feeding difficulties[93. 3﹪(83/89 cases)νs. 35. 7﹪(5/14 cases)]were more frequently seen in children with maternal ab﹣sence group,compared those with no absence,and the differences were statistically significant(all P<0. 05).(5)Epi﹣lepsy was present in 77. 7﹪(80/103 cases)of children with onset age varying from 8 to 72 months and 80. 8﹪(59/73 cases)were developing seizures prior to 3 years old. Children with maternal absence showed more multiple seizure types than those with no absence[41. 7﹪(32/68 cases)νs. 0(0 case)],and the difference was statistically significant (P<0. 05). Children with well-controlled epilepsy had more atonic seizure,compared with those with poorly con﹣ trolled seizure[48. 3﹪(14/29 cases)νs. 18. 5﹪(4/27 cases)],and the difference was statistically significant( P<0. 05). Conclusions Sleep disorders,feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence. Atonic seizure is easier to be controlled over other types of seizures.

4.
Chinese Journal of Ultrasonography ; (12): 1075-1079, 2018.
Artigo em Chinês | WPRIM | ID: wpr-734223

RESUMO

Objective To summarize the prenatal ultrasonographic characteristics of unroofed coronary sinus( URCS) for improving the prenatal echocardiography diagnostic accuracy of URCS . Methods The retrospective review for prenatal ultrasonogram of 7 fetuses was applied ,which were diagnosed as URCS . The prenatal ultrasonographic characteristics of 7 fetuses with URCS were reviewed and comparatively analyzed with postpartum autopsy findings or postnatal echocardiography . The relevant literatures referring to the prenatal diagnosis of URCS were reviewed . The experience of prenatal diagnosis of URCS were summarized . Results In 7 cases with URCS ,5 cases of completely URCS were associated with right atrial isomerism syndrome and confirmed by postpartum autopsy ,and 2 cases of partially URCS were only with persistent left superior vena cava and confirmed by postnatal echocardiography . The karyotype analysis of 2 cases of partially URCS on amniotic fluid was normal . Conclusions There are some characteristic signs in ultrasonic features of URCS . URCS can be diagnosed by prenatally ultrasonography . A long axial section of the coronary sinus is the most important view for prenatal ultrasonic diagnosis of U RCS .

5.
Journal of Clinical Hepatology ; (12): 286-288, 2017.
Artigo em Chinês | WPRIM | ID: wpr-510635

RESUMO

Objective To investigate the clinical effect of ultrasound-guided percutaneous transhepatic gallbladder drainage (PTGBD) in the treatment of acute cholecystitis.Methods A retrospective analysis was performed for the clinical data of 81 patients with acute cholecystitis who underwent ultrasound-guided PTGBD in General Hospital of Lanzhou Petrochemical Company from March 2013 to February 2016.The changes in related parameters after the placement of drainage tube were analyzed.The t-test was used for comparison of continuous data between groups.Results All the 81 patients underwent a successful one-time puncture.After the surgery,1 patient experienced tube dislodgement and 2 experienced obstructed bile drainage,while no patient experienced serious complications such as bleeding,bile leakage,and hemopneumothorax.Within 12 hours after surgery,there was a significant improvement in pain in the right upper quadrant and significant reductions in the major axis and radial width of the gallbladder (t =13.28 and 9.54,P =0.023 and 0.041),as well as significant reductions in white blood cell count and neutrophil count (t =8.70 and 8.03,P =0.028 and 0.034).Of all patients,38 achieved symptom remission after the placement of drainage tube and refused selective surgical treatment,and 43 underwent cholecystectomy within 3 months after surgery.Conclusion PTGBD is simple,convenient,visible,and safe and can effectively reduce patients' pain,increase the success rate of the treatment of acute cholecystitis,improve patients' clinical outcomes,and reduce the incidence of complications.It also provides the conditions of selective surgery for critically ill patients with acute cholecystitis,and therefore,it holds promise for clinical application.

6.
Chinese Journal of Ultrasonography ; (12): 505-509, 2017.
Artigo em Chinês | WPRIM | ID: wpr-611527

RESUMO

Objective To explore the value of three-vessel and trachea(3VT) view plus aortic arch coronal section in ultrasonic diagnosis and classification of fetal right aortic arch(RAA).Methods Echocardiography data and follow-up results of 44 fetuses with RAA were retrospectively analyzed.Sonographic features on 3VT view and aortic arch coronal section were summarized.Results Among 44 fetuses with RAA,27 cases(61.36%) were RAA with aberrant left subclavian artery(ALSA) and the left ductus arteriosus(LDA) connecting the ALSA and U-shaped vascular ring was formed;17 cases(38.64%) were mirror right aortic arch(MRAA).Among 17 cases with MRAA,3 cases were with LDA connecting the descending aorta(DAO) and U-shaped vascular ring was formed;1 case was with LDA connecting the left innominate artery(LINA),8 cases were with absent ductus arteriosus(ADA),5 case were with right ductus arteriosus(RDA),no vascular ring was formed.Parts of MRAA were combined with other complex intracardiac abnormalities.RAA-ALSA-LDA were rarely combined with intracardiac abnormalities.Conclusions 3VT view is simple and intuitive for diagnosing RAA.Aortic arch coronal section has great clinical value in determining the concrete type of RAA.

7.
Chinese Journal of Immunology ; (12): 1210-1213, 2015.
Artigo em Chinês | WPRIM | ID: wpr-476764

RESUMO

Objective:To investigate the effects of Gab2 overexpression on the proliferation and migration of human colorectal cancer cell line SW480.Methods: The experimental group (LV-Gab2-GFP group),colorectal cancer SW480 cells were transfected with recombinant lentivirus vector (LV-Gab2-GFP),the negative control group was transfected with negative control lentiviral vector ( LV-GFP) ,and the blank control group without any treatment.The mRNA and protein expression of Gab 2 in cells were identified by RT-PCR and Western blot respectively.Proliferation of the cells was detected by CCK-8 colorimeter and colony forming assay.Wound-healing assay was used to determine the cells migration .Results: RT-PCR and Western blot demonstrated that Gab 2 mRNA and protein expression significantly increased in LV-Gab2-GFP group compared with control groups;overexpression of Gab2 markedly enhanced human colorectal cancer SW 480 cells proliferation and migration compared with control groups .Conclusion:Overexpression of Gab2 accelerates human colorectal cancer SW 480 cells proliferation and migration.

8.
Chinese Journal of Trauma ; (12): 800-804, 2011.
Artigo em Chinês | WPRIM | ID: wpr-421726

RESUMO

ObjectiveTo summarize the clinical result of the proximal femoral shaft splitting at sagittal view in primary total hip arthroplasty (THA) in treatment of ultimate hip disease combined with femoral metaphyseal stenosis deformity.MethodsA retrospective study was done on 18 patients with proximal femoral deformity (22 hips including 14 patients with unilateral hips and 4 with bilateral hips)treated from January 2000 to December 2009.There were three males and 15 females, at age range of 41-75 years (average 54 years).According to Berry classification system, all patients were indentified as metaphyseal segment abnormality and deformity, including developmental type disease (congenital hip dysplasia) in 17 patients and old tuberculosis of the hip in one.The congenital hip dysplasia was diagnosed as type Ⅳ by using the Crowe classification system.All the patients were treated with the proximal femoral shaft splitting, subtrochanteric shortening with overlapping femoral resection and V-shaped derotational osteotomy.In the meantime, standard biological fixation of the femoral stem prosthesis was performed.ResultsThere found no dislocation, infection, lower extremity nerve stretch injury or uncontrolled proximal femur fractures.X-ray showed that all acetabular cups were placed at the anatomical position and that the initial femoral stem prosthesis fixation was rated as good.All osteotomy areas were healed within 3-6 months.Limb length discrepancy was restored to average 3 cm after surgery.The patients were followed up for 1-10 years (average six years), which showed that the average Harris hip score was improved from preoperative 30 to postoperative 93, with no aseptic loosening or osteolysis or radiolucent line around the femoral component, no prosthesis sinking or varus displacement, or no patients needing revision of the femoral component.ConclusionsThe proximal femoral shaft splitting at sagittal view and standard biological fixation of the femoral stem prosthesis can attain satisfactory result for patients with ultimate hip disease combined with femoral metaphyseal stenosis deformity.

9.
China Journal of Chinese Materia Medica ; (24): 3103-3107, 2010.
Artigo em Chinês | WPRIM | ID: wpr-260743

RESUMO

<p><b>OBJECTIVE</b>To analyze water-soluble components in the roots of Ch. smyrnioides among different populations that distributed in the main areas and give a reference for germplasm evaluation and quality control.</p><p><b>METHOD</b>Water-soluble components were extracted with the cold-soaking method and analyzed by HPLC, similarity coefficient was calculated by included angle cosine method according to relative content of major water-soluble components, and systematic relationships were constructed based on UPGMA method.</p><p><b>RESULT</b>There was significant difference in water-soluble components in root among population. Jiuhuashan population had the highest content of water-soluble extract. The content of water-soluble extract was below the pharmacopoeia standard in the root of Dalongshan population and Fushan population. There was significant difference in the HPLC chromatogram of water-soluble components in the root of Ch. smyrnioides from different populations, and the number of common peak was small. Similarity coefficient significantly ranged from 0.0306 to 0.9995 among 10 populations of Ch. smymrnioides. Water-soluble components in the root of Zijinshan population was the most unique, similarity coefficients were relatively small among Zijinshan population and the other seven populations except Hongshan population, and similarity coefficient was in a higher level of 0.9697 between Zijinshan population and Hongshan population. Water-soluble components were extremely similar in four populations that were Laoshan, Maoshan, Qinglongshan and Langyashan, and similarity coefficients among them were in a high level exceeded 0.99. 10 populations were divided into 3 groups according to clustering results.</p><p><b>CONCLUSION</b>Water-soluble components show a high diversity in the roots of Ch. smyrnioides among different populations, and can be clearly divided into 3 types.</p>


Assuntos
Apiaceae , Química , Cromatografia Líquida de Alta Pressão , Extratos Vegetais , Raízes de Plantas , Química
10.
Chinese Journal of Trauma ; (12): 965-971, 2010.
Artigo em Chinês | WPRIM | ID: wpr-385830

RESUMO

Objective To investigate periprosthetic femoral shaft remodeling with tapered femoral stems after total hip arthroplasty (THA) for elderly patients and evaluate the mid-term clinical outcomes.Methods The study involved 30 elderly (70-90 years) patients (34 hips) treated with femoral shaft remodeling with tapered stems after THA from January 2003 to January 2005. The postoperative X-ray images were collected and perioperative periprosthetic bone mineral density was analyzed by dual-energy X-ray absorptiometry (DEXA). The Harris score was applied in follow-up observation, and Kaplan-Meier method was used to evaluate the working life of the femoral prosthesis. Results Four patients were died of lung cancer. The remaining 26 patients ( 30 hips) were followed up for 5-7 years ( mean, six years). The postoperative X-ray measurements showed that total hip prosthesis subsidences were less than 1.5 mm within one year in 12 hips, with no prosthesis loosening observed. Bone proliferations were seen in Gruen zones 2, 3, 4, 5, 6, 11 and 12, and bone resorptions were seen in zones l and 7. DEXA showed that bone mineral density was increased in Gruen zones 2,3,4 and 5, but decreased mainly in Gruen zones 1,6 and 7. The increase of bone mineral density in zones 2 and 5 was faster compared to other sites six months after the operation ( P < 0.05 ) and the change of bone mineral density was prone to be stable in two years ( P > 0.05 ). Within one year after initial implantation, periprosthetic bone mineral density was significantly decreased ( P < 0.05 ). Two years after the operation, rare changes of periprosthetic bone mineral density were found ( P > 0.05 ), with only regional redistribution of bone mass from the proximal to the distal femur. The Harris score of hip joint function was increased from preoperative 38.56 ± 8.21 to 86.32 ± 6. 01 at the final follow-up. The 6-year survival rate of the prosthesis was 100%. Conclusion Femoral shaft remodeling with tapered stems after total hip arthroplasty for the elderly patients shows good periprosthetic bone remodeling and satisfactory mid-term clinical results.

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