Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre and early symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis. Patients with late-onset juvenile MLD typically present with a slower neurological progression of symptoms and represent a significant burden to the economy and healthcare system, whereas those with early onset infantile MLD die within a few years of symptom onset. We conducted a pilot study to determine the safety and benefit of HSCGT in patients with postsymptomatic juvenile MLD and report preliminary results. The safety profile of HSCGT was favorable in this long-term follow-up over 9 years. The most common adverse events (AEs) within 2 months of HSCGT were related to busulfan conditioning, and all AEs resolved. No HSCGT-related AEs and no evidence of distorted hematopoietic differentiation during long-term follow-up for up to 9.6 years. Importantly, to date, patients have maintained remarkably improved ARSA activity with a stable disease state, including increased Functional Independence Measure (FIM) score and decreased magnetic resonance imaging (MRI) lesion score. This long-term follow-up pilot study suggests that HSCGT is safe and provides clinical benefit to patients with postsymptomatic juvenile MLD.
Humans ; Leukodystrophy, Metachromatic/genetics* ; Pilot Projects ; Genetic Therapy/methods* ; Hematopoietic Stem Cell Transplantation ; Male ; Follow-Up Studies ; Female ; Lentivirus/genetics* ; Child ; Child, Preschool ; Hematopoietic Stem Cells/metabolism* ; Cerebroside-Sulfatase/metabolism* ; Adolescent

Objective:To explore the application value of apparent diffusion coefficient (ADC) of magnetic resonance diffusion weighted imaging (DWI) parameters in glioma classification and glioma microstructure evaluation.Methods:From June 2017 to November 2019, 38 patients with glioma confirmed by surgery and pathology in Haikou Hospital Affiliated to Xiangya Medical College of Central South University were retrospectively analyzed. According to the pathological results, they were divided into low-grade (WHO Ⅰ-Ⅱ, 15 cases) glioma group and high-grade (WHO Ⅲ-Ⅳ, 23 cases) glioma group. They received magnetic resonance imaging (MRI) plain scan and DWI scan respectively, and the ADC value and microstructure of different grades of glioma were compared. The correlation between ADC value of glioma and the percentage of vascular endothelial growth factor (VEGF)-positive cells, cell density and integrated optical density (IOD) value of aquaporin 1 (AQP1) expression was analyzed.Results:(1) MRI examination showed that the signals of low-grade glioma were more uniform, with no or slight peritumoral edema and space occupying effect, and the enhancement was more non enhanced or slightly enhanced. The signals of high-grade glioma were more heterogeneous due to necrosis and bleeding, and the peritumoral edema and space occupying effect were more obvious, showing uneven obvious enhancement or irregular ring enhancement; (2) The percentage of VEGF positive cells, cell density and the IOD value of AQP1 expression in high-grade glioma were significantly higher than that in low-grade glioma, and the ADC value was lower than that in low-grade glioma (all P<0.05); (3) The ADC value of glioma patients was negatively correlated with the percentage of VEGF-positive cells, cell density, and the IOD value of AQP1 expression ( r=-0.55, -0.65, -0.63, all P<0.05). Conclusions:The ADC value of glioma can indirectly reflect the expression of VEGF, cell density and AQP1 positive expression level, which is helpful for preoperative glioma classification and evaluation of glioma microstructure and biological characteristics.

Objective:To explore the clinical value of one-step CT angiography from deep vein of lower limbs to pulmonary artery in the direction of head and foot.Methods:Twenty-eight patients who presented Haikou Affiliated Hospital of Central South University Xiangya School of Medicine from January 2017 to June 2019 were collected. All patients who underwent one-step CT angiography of the deep veins of the lower extremities to the pulmonary artery were randomly divided into two groups, A or B, and scanned from the entrance of the thorax to 10 cm below the knee joint. Group A was foot-head direction group with delayed time scanning according to empirical method. Group B was the head-foot direction group with a single point triggered automatic tracing scan at the level of the main pulmonary artery trunk. The independent sample t-test was used to compare the scan time, dose length product (DLP), and mean CT value of enhancement of the pulmonary artery opening between the two groups. Results:The average scanning time of the foot-head scanning group was (36.4±1.2)s, the average DLP was (684.4±37.8) mGy·cm, and the average enhanced CT value of pulmonary artery image was (181.3±15.5) HU. The average scanning time of the head foot scanning group was (16.4±0.3) s, the average DLP was (441.8±34.4) mGy·cm, and the average enhanced CT value of the pulmonary artery image was (257.9±24.5) HU. Scanning time, mean DLP, and pulmonary artery level enhancement values were significantly different between the two groups ( t=17.92, 4.71, 2.44, P<0.05). Conclusions:The clinical value of one-step CT angiography from deep vein of lower limbs to pulmonary artery in the head-foot direction is significantly better than that in the head-foot direction. It can significantly shorten the scanning time, reduce the radiation dose, and increase the enhancement value of pulmonary artery to improve the detection of pulmonary embolism.

Objective:To investigate the values of CT angiography (CTA) and color Doppler ultrasound in the diagnosis and etiological screening of varicocele (VC).Methods:Ninety-seven patients with VC diagnosed by the Department of Urology, Central South University Xiangya School of Medicine Affiliated Haikou Hospital from May 2016 to December 2017 were retrospectively included. The CTA and color Doppler ultrasonographic data of 194 spermatic veins (including 116 varicocele veins) were analyzed. Paired t test was used to compare the mean diameter of spermatic veins at the root of scrotum measured by CTA and color Doppler ultrasound. McNemar test was used to compare the sensitivity and specificity of CTA and color Doppler examination for VC, and χ 2 or Fisher exact probability was used to compare the detection rate of CTA and color Doppler examination in screening the etiology of VC. Results:The average diameters of scrotal root of spermatic veins by CTA and color Doppler ultrasonography were (2.9±0.6) and (3.0±0.6) mm for VC cases, with no significant difference found( t=0.885, P=0.381). According to the diagnostic VC standard of color Doppler ultrasound (diameter>2 mm), no significant difference was found between CTA and color Doppler ultrasound in the sensitivity [95.69%(111/116) vs. 100%(116/116)] and specificity [100%(78/78) vs. 100%(78/78)] in the diagnosis of VC. The etiological detection rate of CTA in 97 patients with VC was significantly higher than that of color Doppler ultrasound ( P<0.05). Conclusions:Both CTA and color Doppler ultrasound have high sensitivity and specificity in the diagnosis of VC. CTA has a higher etiological detection rate in etiological screening of VC than color Doppler ultrasound.

OBJECTIVES: To explore the value of three-dimensional fast gradient echo sequence (3D-GRE) in observation of the craniocervical junctional ligament. METHODS: A total of 21 healthy volunteers underwent 3D-GRE imaging. The imaging data was imported into the post-processing workstation. The structures of the ligaments in the craniocervical junctional area were observed and evaluated by multiplanar reconstruction technique. RESULTS: The features of ligaments in the craniocervical junction were shown clearly for all the 21 cases of volunteers. The scan time was 267-294 s. After the treatment with the three-dimensional reconstruction technique, the signal characteristics and the running structure of the transverse ligament, the alar ligament, the serrated ligament and the lamina could be effectively displayed. CONCLUSIONS The 3D-GRE can evaluate the three-dimensional data of craniocervical junctional ligament in a short period of time. Post-processing reconstruction technique can clearly evaluate the structure characteristics of each ligament, which can lay a foundation for further application in craniocerebral trauma patients.
Diagnostic Imaging ; Humans ; Imaging, Three-Dimensional ; Ligaments, Articular/diagnostic imaging* ; Magnetic Resonance Imaging

Objective To investigate the usefulness of different-b-value diffusion weighted imaging (DWI) in patients with early cerebral infarction and obtain the optimal b value of early cerebral infarction.Methods DWI at b-value of 1,000,2,000,and 3,000 s/mm2 was performed for 40 patients within 72 h after the onset of stroke using a GE Signa HDx 3.0T MRI scanner.Post-processing was done by the DWI specific software Function Tool to gain signal intensity and mean apparent diffusion coefficient in the lesions center and the contralateral normal brain tissue,respectively.The sensitivity of conventional MRI and different-b-value DWI was calculated in the diagnosis of early cerebral infarction.Results In 40 patients with early cerebral infarction,the sensitivity of b-values of 1,000,2,000,and 3,000 s/mm2 (DWIb=1 000,DWIb=2 000,DWIb=3 000) and conventional MRI in the diagnosis of early cerebral infarction were 100％,97.5％,97.5％,72.5％,respectively.With b value increased,signal intensity and ADC value declined.Under the condition of different b values,signal intensity and ADC value were statistically significant in region of interest (P＜0.05).Conclusion DWI is superior to conventional MRI scan in monitoring early cerebral infarction.With the increase of b value,the sensitivity is the higher to hyperacute cerebral infarction,the signal contrast is obvious,while signal to noise ratio of the image reduces.It is suggested that brain tissue contrast and the sensitivity to the new cerebral infarction is more predictable on b value =1,000 DWI than on the other DWIs.

Objective To investigate the value of multi-b value DWI combined with PSA evaluation on the effect of endocrinotherapy for prostate cancer (PCa), and to study the correlation between the signal intensity(SI), apparent diffusion coefficient(ADC) with PSA.Methods Forty patients with PCa diagnosed by pathology or biopsy were tested for serum PSA levels before and after endocrine therapy.All patients underwent DWI at b-value of 300,800 and 1 000 s/mm2 by using a GE Signa HDx 3.0T MRI scanner.The serum PSA,the value of SI and ADC at different b values before and after endocrine therapy,and their correlation with PSA were observed and measured, respectively.Results (1)The serum PSA before and after endocrine therapy were (35.63±20.91) ng/mL and (5.98±3.84) ng/mL, respectively.The difference was statistically significant (P<0.05).(2)On the condition of different b values, ADC values were (1.06±0.06)×10-3 mm2/s, (0.83±0.04)×10-3 mm2/s, (0.73±0.03)×10-3 mm2/s, respectively before endocrine therapy, and (1.33±0.09)×10-3 mm2/s, (1.16±0.09)×10-3 mm2/s, (1.10±0.08)×10-3 mm2/s, respectively after endocrine therapy.There were significant difference between the ADC values before endocrine therapy and those after endocrine therapy (P<0.05).SI were 809.09±79.06, 417.42±26.65 and 327.42±25.26 in 40 patients with Pca before the endocrine therapy, and 780.10±78.52,409.33±33.93 and 320.00±31.10 after endocrine therapy.The difference was not statistically significant (P>0.05).(3)Pearsoncorrelation analysis showed that ADC value was negatively correlated with serum PSA (r300=-0.58,P<0.01;r800=-0.60,P<0.01;r1 000=-0.66,P<0.01) before endocrine therapy.ADC value was also negatively correlated with serum PSA (r300=-0.55,P<0.01;r800=-0.52,P<0.01;r1 000=-0.61,P<0.01) after endocrine therapy.In addition,SI was negatively correlated with serum PSA (r300=-0.09,P<0.01;r800=-0.18,P<0.01;r1 000=-0.28,P<0.01) before the treatment, as well.Conclusion ADC value at different b values increased after endocrine therapy in Pca, and is negatively correlated with serum PSA.The correlation is the most significant at b value of 1 000 s/mm2.The combination of DWI and serum PSA could be used to monitor and evaluate the effect of endocrinotherapy for Pca, and better guide the clinical treatment of Pca.