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1.
Chinese Journal of Neurology ; (12): 192-196, 2020.
Article in Chinese | WPRIM | ID: wpr-870795

ABSTRACT

Objective:To report the clinical and genetic characteristics of a family of creatine transporter deficiency (CRTR-D) caused by SLC6A8 gene mutation.Methods:A patient, who came from Department of Neurology, Shanxi Children′s Hospital in September 2018, with epilepsy and unexplained general developmental retardation, was clinically examined. The medical history of his family was also collected. Genetic detection was performed to analyze their genetic causes.Results:The proband, a three years and three months old boy, was walking unsteadily, unable to speak and having frequent seizures, with increased urine creatine/creatinine ratio and decreased peak of cerebral creatine indicated by magnetic resonance spectrum. The proband′s uncle had the similar symptoms with him. The mother of the proband only showed some learning difficulties, while the father, sister and grandparents of the proband had no symptoms. The proband was found to have TTC deletion mutation of SLC6A8 gene (NM_005629), c. 1222_1224del (p.Phe408del), suggestting the diagnosis of X-linked CRTR-D. The proband′s mother and grandmother had heterozygous mutations. The proband′s uncle carried the same hemizygous mutation, which was not detected in the proband′s father, sister or grandfather.Conclusion:In this family of CRTR-D caused by SLC6A8 gene mutation, two female carriers with the same mutation presented different clinical features, suggesting phenotypic variation, which has a great significance in studying the correlation between genotype and phenotype.

2.
Article in Chinese | WPRIM | ID: wpr-803119

ABSTRACT

Objective@#In order to improve the accuracy of preoperative diagnosis, the value of MRI in the diagnosis and differential diagnosis of the mediastinal neuroganglionic tumors in children was explored.@*Methods@#A retrospective analysis of 41 cases of pathologically proven mediastinal neuroganglionic tumors[GN 19 cases, 6 cases of ganglion neuroblastoma (GNB), 16 cases of neuroblastoma (NB)]was conducted.The MRI characteristics and clinicopathological features were analyzed, including age, size, shape and boundary of tumor, MRI plain scan and enhanced signal characteristics, compared with postoperative pathology.@*Results@#The average age of the 19 cases of GN was 3.9 years, the maximum diameter of the tumor was 7.3 cm, 12 cases of tumor morphology, 18 cases of clear border, 11 cases of tumor interlinking with vertebral canal, 0 case with multi nodular fusion, 12 cases with lengthwise tumor, 11 cases with low signal in T1WI, 12 cases of uniform high signal in T2WI, and 2 cases with hemorrhagic necrotic cysts and cystic degeneration.In 6 cases of GNB and 16 cases of NB, the above-mentioned signs were 4.1 years old, 1.9 years old, 6.8 cm, 6.4cm, 2, 6; 5, 12; 3, 15; 2, 10; 3, 12; 0, 4; 3, 9; 2, 11; 1, 2; 5, 9; 0, 7, there were statistically significant differences in age of onset(F=4.145; P=0.024), relationship between tumors and vertebral canal(P=0.023), hemorrhagic necrosis and cystic degeneration(P=0.001), multiple nodule fusion(P=0.000), plain T1WI signal(P=0.015), and associated metastasis(P=0.000). There were no statistically significant differences in tumor size(F=0.363; P=0.698), tumor shape(P=0.277), boundary(P=0.221), lengthwise growth(P=0.401), plain scan T2WI signal(P=0.835), intensifying degree(P=0.338), whether the tumor had capsule(P=0.423).@*Conclusion@#The onset age of benign GN is significantly larger than that of NB, T1WI plain scan is mostly low signal, after enhancement, mainly with mild strengthening, GNB and NB tumor shape is irregular, NB is mainly multi nodular fusion, which easy to occur hemorrhage and necrosis cystic change, T2WI is mainly mixed high signal, mostly moderate or clear uneven enhancement, NB is prone to invasion of the spinal canal and distant metastasis.

3.
Cancer Research and Clinic ; (6): 180-184, 2019.
Article in Chinese | WPRIM | ID: wpr-746391

ABSTRACT

Objective To investigate the clinicopathological and magnetic resonance imaging (MRI)characteristics of mediastinal neuroblastoma (NB) in children,and to improve the preoperative diagnosis accuracy of NB.Methods The clinicopathological characteristics and imaging data of 16 patients with pediatric NB confirmed by pathology in Children's Hospital of Chongqing Medical University from January 2012 to December 2016 were retrospectively analyzed,including the onset age,lesion size,shape and boundary of the tumors,and MRI scan,and the characteristics of the enhanced signals,which were compared with the postoperative pathology,then the data were also analyzed.Results The age of onset was from 30 d to 11 years old,with the median age of 1.98 years old;all cases occurred in the posterior mediastinum,including 7 cases in left superior posterior mediastinum,4 cases in right superior posterior mediastinum,3 cases in left posterior mediastinum,1 case in right posterior mediastinum,1 case in right posterior mediastinum,1 case in neck and 2 cases in adrenal area;the maximum diameter of tumor was 3-10 cm,with the average of 6.4 cm;the tumor morphology and boundary:10 cases were irregular and 6 cases were regular;I0 cases had multiple nodular fusion,12 cases were lengthwise,12 cases had clear border,1 case had crossing the midline of the tumor,2 cases had multiple tumors,and 15 cases had tumor and spinal canal.MRI signal:plain scan T1WI showed low signals in 4 cases,equal signals in 12 cases.Plain scan T2WI showed uniform high signals in 9 cases,mixed high signals in 7 cases;hemorrhagic necrotic cysts of tumors in 11 cases,slight enhancement in 2 cases,moderate enhancement in 5 cases,and strengthened enhancement in 5 cases.Postoperative pathology showed that there were 9 cases of complete capsule and 5 cases of incomplete capsule or without capsule,including,2 cases of surrounding organs invasion;and 7 cases transferred from other parts,including 5 cases of bone metastasis,2 cases of bone marrow,2 cases of lymph nodes,1 case of left lung,and 1 case of bone and soft tissue.The cut surface of the tumors showed gray in 4 cases,grey brown in 6 cases,gray white and brown in 4 cases;hemorrhage in 2 cases,calcification in 2 cases,necrosis in 3 cases,cystic degeneration in 1 case,hemorrhage and necrosis in 2 cases,necrotic calcification in 2 cases,and hemorrhagic calcification in 2 cases.There were 4 cases combined with pleural effusion,and 4 cases combined with pneumonia,4 cases of Horner syndrome,and 1 case of lung consolidation or atelectasis.Conclusion The MRI manifestations of pediatric NB patients have some characteristics.Combination with their clinical characteristics can provide an important basis for the early diagnosis and accurate diagnosis of NB.

4.
Article in Chinese | WPRIM | ID: wpr-753817

ABSTRACT

Objective In order to improve the accuracy of preoperative diagnosis ,the value of MRI in the diagnosis and differential diagnosis of the mediastinal neuroganglionic tumors in children was explored .Methods A retrospective analysis of 41 cases of pathologically proven mediastinal neuroganglionic tumors [GN 19 cases,6 cases of ganglion neuroblastoma ( GNB), 16 cases of neuroblastoma ( NB)] was conducted.The MRI characteristics and clinicopathological features were analyzed , including age, size, shape and boundary of tumor , MRI plain scan and enhanced signal characteristics,compared with postoperative pathology.Results The average age of the 19 cases of GN was 3.9 years,the maximum diameter of the tumor was 7.3 cm,12 cases of tumor morphology ,18 cases of clear border,11 cases of tumor interlinking with vertebral canal ,0 case with multi nodular fusion ,12 cases with lengthwise tumor,11 cases with low signal in T1 WI,12 cases of uniform high signal in T 2 WI,and 2 cases with hemorrhagic necrotic cysts and cystic degeneration.In 6 cases of GNB and 16 cases of NB,the above -mentioned signs were 4.1 years old,1.9 years old,6.8 cm,6.4cm,2,6;5,12;3,15;2,10;3,12;0,4;3,9;2,11;1,2;5,9;0,7,there were statistically significant differences in age of onset (F=4.145;P=0.024),relationship between tumors and vertebral canal(P=0.023),hemorrhagic necrosis and cystic degeneration (P=0.001),multiple nodule fusion ( P=0.000), plain T1 WI signal ( P =0.015 ), and associated metastasis ( P =0.000 ).There were no statistically significant differences in tumor size(F=0.363;P=0.698),tumor shape(P=0.277),boundary(P=0.221),lengthwise growth (P=0.401),plain scan T2 WI signal( P=0.835),intensifying degree (P=0.338),whether the tumor had capsule (P=0.423).Conclusion The onset age of benign GN is significantly larger than that of NB ,T1 WI plain scan is mostly low signal,after enhancement ,mainly with mild strengthening ,GNB and NB tumor shape is irregular ,NB is mainly multi nodular fusion ,which easy to occur hemorrhage and necrosis cystic change ,T2 WI is mainly mixed high signal,mostly moderate or clear uneven enhancement ,NB is prone to invasion of the spinal canal and distant metastasis.

5.
Article in Chinese | WPRIM | ID: wpr-669282

ABSTRACT

Objective To observe the clinical effects of ultrasound-guided median nerve block on carpal tunnel syndrome.Methods A total of 40 patients (69 hands,aged 33-61 years,ASA Ⅰ or Ⅱ,were randomly assigned into ultrasound group (group U) and control group (group C),20 cases in each.The ultrasound group underwent ultrasound-guided median nerve blocking,while the control group did through by anatomic landmark palpation.3 ml of 4.5 mg bupivacaine,5 mg triamcinolone acetonide and 100 μg vitamin B12 was injected in a single shot in the two groups.Symptoms and functions were evaluated by Boston carpal tunnel questiormaire (BCTQ) at the onset and after the treatment.Electrophysiological parameters were recorded at the time of pretreatment and post-treatment.Cases receiving two or more and side effects were also recorded.Results Both the symptom severity scale (SSS) and funcational status scores(FSS) of the BCTQ showed significant decrease 1 month after treatment in the two group (P<0.05).Compared with group C,SSS of group U showed a significant decrease (P<0.05),while there was no significance difference in FSS.Compared with pretreatment,MDL,SDL3 showed a significant decrease and SNCV showed significant increase 1 month after treatment in the two group (P<0.05),while there was no significant change in the MNCV.SNCV was quicker in group U than in group C at 1 month after treatment (P<0.05),while other electrophysiological parameters were not significantly different between the two groups.Less cases with treatment times≥2 and less side effects were found in group U than in group C (P < 0.05).Conclusion Median nerve blocking under ultrasound guidance effectively improves the symptom in patients with carpal tunnel syndrome and reduces complications.

6.
Cancer Research and Clinic ; (6): 815-818, 2017.
Article in Chinese | WPRIM | ID: wpr-664293

ABSTRACT

Objective To explore the value of magnetic resonance imaging(MRI)in staging diagnosis of posterior fossa tumor in children. Methods The MRI features of low and high grade tumor for posterior fossa brain tumors confirmed by pathology in 19 children treated in Children's Hospital of Chongqing Medical University from January 2012 to December 2013 were retrospectively reviewed. The measurement of gross tumor volume, the ratio of solid component, the rate of brain edema and the tumor cystic degeneration rate were studied with statistical analysis, all datum were classified according to the World Health Organization (WHO) central nervous system tumor classification criteria. Results There were 5 cases in cerebellum and 4 cases in four ventricle in the low grade tumor group;there were 6 cases in four ventricle and 4 cases in cauda cerebelli in the high grade tumor group. Combined obstructive hydrocephalus: the low grade tumor group had 8 cases(8/9), the high grade tumor group had 10 cases (10/10). The gross tumor volume: (51.2±3.2) mm3for the low grade tumor group, (31.9±1.8) mm3for the high tumor group, there was significantly statistical difference (t= 2.591, P = 0.019). The ratio of solid components: 41.7 % for the low grade tumor group, 66.1 % for the high tumor group, there was also significantly statistical difference (χ 2= 6.52, P < 0.05). Combined the edema around brain parenchyma: the low grade tumor group had 4 cases(4/9), the high grade tumor group had 4 cases (4/10), there was no statistical difference (χ2= 2.591, P = 0.274). The tumor cystic degeneration: the low grade tumor group had 9 cases (9/9), the high grade tumor group had 4 cases (4/10), there was no statistical difference (χ2= 0.052, P = 0.819). Conclusions MRI has high clinical application values in staging diagnosis of posterior fossa brain tumor in children. It can provide the basis for clinical operation plan.

7.
Cancer Research and Clinic ; (6): 523-527, 2016.
Article in Chinese | WPRIM | ID: wpr-502576

ABSTRACT

Objective To explore the accuracy rate of CO2 injection method and conventional magnetic resonance imaging (MRI) in the staging diagnosis for stage Ⅰ carcinoma of endometrium.Methods Preoperative staging diagnosis for stage Ⅰ carcinoma of endometrium was done,and the method of injecting CO2 gas into the uterine lumen by catheter was applied for pelvic MRI scan in 38 cases of stage Ⅰ carcinoma of endometrium.The pathological staging result was treated as the gold standard to compare the accuracy rate of CO2 injection method with conventional scan method (43 cases).Results For conventional MRI scan group,the accuracy rate of staging diagnosis in stage Ⅰ carcinoma of endometrium was 81.3 % (35/43),including stage Ⅰ A 75.0 %(6/8),stage Ⅰ B 83.9 %(26/31),stage Ⅰ c 75.0 %(3/4).For CO2 injection group,the accuracy rate was 89.4 %(34/38),including stage Ⅰ A 85.7 %(6/7),stage Ⅰ B 88.9 %(16/18),stage Ⅰ c 84.6 % (12/13).There was a statistical difference between the accuracy rates of two methods (x2=7.81,P < 0.05).Conclusion Compared with conventional scan method,the CO2 injection method with better simplicity,safety and application value,could be more accurate to determine the location of endometrial cancer and the degree of myometrial infiltration.

8.
Article in Chinese | WPRIM | ID: wpr-447424

ABSTRACT

Objective To explore the clinical value of diffusion weighted imaging (DWI) in the diagnosis of breast disease ,and compared with ultrasound and mammography .Methods The clinical data of 28 patients who were pathologically confirmed with breast cancer were retrospectively reviewed .The diagnostic accuracy of DWI ,mammogra-phy and ultrasound , the surface diffusion coefficients ( ADC value ) were statistically analyzed .Results ( 1 ) DWI scan:the diagnostic accuracy of malignant tumor was 90.9%(20/22),the ADC value of malignant tumor was (0.955 ±0.199) ×10 -3mm2/s;the diagnostic accuracy of benign lesions was 83.3%(5/6),the average ADC value of benign lesions was (1.660 ±0.339) ×10 -3 mm2/s,there were statistically significant differences ( t=2.371,P0.05),but for the diagnostic accuracy of benign lesions,DWI was better than ultrasound and mammography ,the difference was statistically significant (χ2 =6.146, P<0.05).Conclusion For the diagnosis of malignant breast tumors and benign lesions ,DWI is better than ultra-sound and mammography ,which has high clinical application value .

9.
Cancer Research and Clinic ; (6): 322-324, 2013.
Article in Chinese | WPRIM | ID: wpr-436622

ABSTRACT

Objective To evaluate the diagnosis value of spiral CT in leiomyosarcoma of abdomen.Methods Both plain and enhanced CT fingdings in 12 cases with pathologic-proved leiomyosarcoma of abdomen were respectively analyzed.Results In all of 12 cases,1 case occurred in colon,1 case in rectum,1 case in small intestine,5 cases in mesentery,4 cases in retroperitoneum,CT positioning accuracy rate was 91.7 % (11/12).The volume was comparatively large,the average diameter was 6 cm.The density were uneven,nodosity or lamellar necrosis were found.Delay enhacement were occurred in lower density part in most part of cases (9/12).Conclusion The localization of spiral CT is comparatively accurate to the leiomyosarcoma of abdomen,some characteristics are found in CT image,but the final diagnosis depends on immunohistochemistry.

10.
Cancer Research and Clinic ; (6): 448-451,454, 2013.
Article in Chinese | WPRIM | ID: wpr-598449

ABSTRACT

Objective To analyze imageology appearance and clinical characteristics of the cystic and solid breast carcinoma.Methods Features of MRI and B-type ultrasonic inspection of 26 patients with the cystic and solid breast carcinoma pathologically confirmed (15 patients with mucinous carcinoma,6 patients with intracystic papillary carcinoma,5 patients with squamous cell carcinoma of the breast) were retrospectively reviewed.Results In terms of clinical appearance,the incidence of the squamous cell breast carcinoma with an average age of 70.1 years old was larger than in youth,while mucinous carcinoma with an average age of 67.7 years old and intracystic carcinoma of breast with an average age of 55.1 years old were contrary.The squamous cell breast carcinoma developed more quickly than mucinous carcinoma and intracystic carcinoma of breast.The squamous cell breast carcinoma often occurred around mammilla (4/5),while the mucinous carcinoma and intracystic papillary carcinoma often occurred upper outer quadrant of breast,which was similar with other breast cancer.The average size of 49.6 mm in the squamous cell breast carcinoma was largest than the average size of 25.1 mm in mucinous carcinoma and the average size of 35.2 mm in intracystic papillary carcinoma.The malignant degree of squamous cell breast carcinoma was higher than mucinous carcinoma and intracystic papillary carcinoma,which intended to occur lymph node metastasis and skin infiltration.The diagnosis probability of mucinous carcinoma was smaller than intracystic papillary carcinoma through preoperative puncture,while squamous cell breast carcinoma was larger.On the MRI imageology appearance,both types of breast cancer had the same shape of rotundity or lobulated.The tumors were low signal on T1WI and partially high signal on T2WI,which were circular enhancement after enhancement.However,the edge of mucinous carcinoma and squamous cell breast carcinoma was rougher than intracystic papillary carcinoma compared with squamous cell breast carcinoma.The bursa wall of mucinous carcinoma was more uniformity,while papillary soft tissue image can be found in intracystic papillary carcinoma,which was enhanced significantly after enhancement.In terms of ultrasonic sound (US),there were low echo signal and high echo signal on the back of tumor compared with other breast tumor.There were shadow beside mucinous carcinoma.Squamous cell breast carcinoma was rich in blood supply,while mucinous carcinoma and intracystic papillary carcinoma were opposite.Conclusion Histological type of cystic and solid breast carcinoma is complex,but the appearances of MRI and US have some characteristics.Histological type and the range of disease could be guessed through the combination of preoperative puncture and clinical appearance,which plays an important role in operation mode and treatment guidance.

11.
Cancer Research and Clinic ; (6): 380-382, 2012.
Article in Chinese | WPRIM | ID: wpr-429042

ABSTRACT

Objective To explore the HRCT characteristics of solitary pure bronchioloalveolar carcinoma.Methods Compared with postop pathological appearance,21 patients with 22 affections tumors which were pathologically confirmed pure bronchioloalveolar carcinoma were retrospectively reviewed.Results the histopathological results prior to surgery showed that 20 patients with 21 affections tumors were non-mucilaginous BAC and 1 patient was mucilaginous BAC.Noguchi's classification:Type A 3 cases,Type B 12 cases,Type C 5 cases.(Mucilaginous BAC was not classified)Stage classification:There were 21 cases with stage ⅠA,the maximum tumor diameter was from 0.3 to 3.0 mm (average diameter 1.3 mm).No case showed pleura metastasis,vessel invasion and lymphaticmetastasis.Appearance of HRCT:according to the amount of GGO,all affections were divided into 4 groups.A group(5/22),B group(7/22),C group(7/22),D group(3/22).There were 11 cases with pleura traction,5 cases with clear boundary and trimmed edges and other 17 cases were contradistinction.There were 21 cases with blood vessel or bronchus shadow.Conclusion HRCT can show scan can provide details of structure characteristics of BAC's pathological histology,so it plays an important role in prediction of pathological infiltration of tumor cells and prognosis assessment.

12.
Cancer Research and Clinic ; (6): 243-245, 2012.
Article in Chinese | WPRIM | ID: wpr-428738

ABSTRACT

Objective Make a scientific approach to the validity of 3D-VIBE MRI on breast tumor's evaluation.Methods 141 breast processes were examined by 3D Dynamic scanning technique with high speed and resolution, Compared with postop pathological appearance, the diagnosis of breast tumor, the ductal carcinoma in situ, their circumscriptions, and axillary lymph node metastasis were evaluated. Results The coincidence of tumor existence diagnosis was 97.2 %(137/141). The accuracy, sensitivity and specificity of progression in duct were 69.4 %(93/134), 75 %(100/134), 57.1%(77/134), respectively.The accuracy,sensitivity and specificity of axillary lymph node metastasis were 92.5 %(124/134), 53.8 %(72/134), and 96.7 %(129/134) respectively. Conclusion The reconstruction images through 3D Dynamic scanning technique with high speed and resolution could discover minute breast tumor and the extent of axillary lymph node metastasis around breast,and the extent of diseases in duct can also be effectively evalnated.

13.
Cancer Research and Clinic ; (6): 595-597, 2011.
Article in Chinese | WPRIM | ID: wpr-419699

ABSTRACT

ObjectiveTo analyze the imageology appearance and clinical characteristics of primary squamous cell carcinoma of the breast.MethodsFeatures of MRI(4 patients)and B-type ultrasonic inspection(5 patients)of nine patients with primary squamous cell carcinoma of the breast pathologically confirmed were retrospectively reviewed. Compared with postoperative pathological appearance, the correlation between imageology appearance and clinical, pathological characteristics was analyzed. ResultsImageology appearance:In MRI:The tumor diameter was around 50 mm;The tumors were located at nearby papillae;There were two patients with pachymenia at the same time;The tumor margin was unclear,which has clear tumor wall structure and heterogeneous pachymenia,and without corpora mammillaria shadow which was toward interior;The tumors were low signal on T1WI and partially high signal on T2WI;The image with enhancement scanning showed that parenchymatous part of tumor were enhanced,while enhancements were not obviously at the centre of tumor with necrosis.In B-type ultrasonic inspection:The average diameter of tumors was around 40 mm, there were NT=0 mm in 4 cases. NT=19 mum in 1 case. The tumors presented as shape of clump or sublobe,which had unclear margin and high echoic region behind the tumor.There were also normal echo at the tumor lateral in 2 cases at the same time,and 4 cases showed blood supply was abundant, and 2 cases showed that there were colliquation and necrosis which had cystic hypoechoic signal at the tumor interior.MMG:There were class-4 in 2 cases,and Class-3 in 1 case.The tumor with little calcification which had no obvious veining showed uniformly high densities.All patients were treated with entire mastectomy. The patho-staging showed 3 cases were in ⅢB, 1 case was Ⅱ B, and 1 case was in Ⅱ A. Theresults of ER and PR with all patients were negative by using immunohistochemistry. 3 cases were also treated with chemotherapy after surgery; other organs (brain and lung) were found metabasis by follow-up visit of post-operation.ConclusionFor patients with primary squamous cell carcinoma of the breast,MMG inspection before surgery did not have specific imageology characteristics, while MRI has. The combination of MRI, B-type ultrasonic inspection and CNB can detect pathologic types and invasive circumscription,so it may have great applications for choose of surgery style and directions of therapy in the future.

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