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 effect of triple pre-rehabilitation strategy on improving nutritional status, negative emotions and quality of life in breast cancer patients undergoing neoadjuvant chemotherapy, so as to provide reference for clinical practice.Methods:A quasi experimental research was adopted. A total of 133 patients who underwent neoadjuvant chemotherapy for breast cancer at Gansu Provincial Cancer Hospital between December 2023 and December 2024 were recruited as research participants. Patients were stratified into the experimental group ( n = 66) and control group ( n = 67) according to their admission sequence. The control group received routine health guidance, while the experimental group was provided with a triple pre-rehabilitation strategy based on the control group. The serum albumin, body mass index, anxiety, depression scores and quality of life scores were compared between the two groups before intervention, 3 weeks after intervention and 2 weeks post-surgery. Results:Totally 64 patients in each group completed the study. The age of the experimental group was (49.50 ± 10.46) years, and that of the control group was (50.42 ± 12.50) years. All of them were females. After a 3-week intervention, the serum albumin levels in the experimental group were (42.62 ± 1.56) g/L, compared to (40.50 ± 1.31) g/L 2 weeks post-surgery. In the control group, these values were (40.98 ± 1.35) g/L and (40.00 ± 1.67) g/L, respectively. The differences between groups were statistically significant ( t = -6.38, -1.89, both P<0.05). Additionally, body mass index of the experimental group was (24.02 ± 1.35) kg/m 2 after the 3-week intervention and (23.48 ± 1.72) kg/m 2 2 weeks post-surgery, which were significantly higher than those of the control group (22.98 ± 1.72) kg/m 2 and (22.50 ± 1.31) kg/m 2, respectively ( t = - 3.81, - 3.61, both P<0.05). The anxiety scores in the experimental group were (6.00 ± 2.09) of 3 weeks after intervention and (7.00 ± 2.62) 2 weeks post-surgery, both of which were significantly lower than those in the control group (7.00 ± 2.26) and (8.00 ± 2.76), with statistically significant differences ( t = 2.60, 2.10, both P<0.05). Additionally, the depression scores in the experimental group were (5.00 ± 2.20) of 3 weeks after intervention and (6.00 ± 2.40) 2 weeks post-surgery, which were also significantly lower than those in the control group (6.00 ± 2.02) and (7.00 ± 2.09), with statistically significant differences ( t = 2.68, 2.52, both P<0.05). Furthermore, the quality of life scores in the experimental group were (94.84 ± 18.00) of 3 weeks after intervention and (84.02 ± 17.13) 2 weeks post-surgery, which were significantly higher than those in the control group (82.00 ± 18.75) and (72.03 ± 17.10), with statistically significant differences ( t = - 3.95, - 3.96, both P<0.05). Conclusions:The triple pre-rehabilitation strategy plays a crucial role in mitigating the nutritional risk for breast cancer patients undergoing neoadjuvant chemotherapy, alleviating their negative emotions, and enhancing their quality of life. This approach is anticipated to serve as a valuable reference for preoperative health guidance tailored to breast cancer patients undergoing neoadjuvant chemotherapy.

Objective:To explore the effect of triple pre-rehabilitation strategy on improving nutritional status, negative emotions and quality of life in breast cancer patients undergoing neoadjuvant chemotherapy, so as to provide reference for clinical practice.Methods:A quasi experimental research was adopted. A total of 133 patients who underwent neoadjuvant chemotherapy for breast cancer at Gansu Provincial Cancer Hospital between December 2023 and December 2024 were recruited as research participants. Patients were stratified into the experimental group ( n = 66) and control group ( n = 67) according to their admission sequence. The control group received routine health guidance, while the experimental group was provided with a triple pre-rehabilitation strategy based on the control group. The serum albumin, body mass index, anxiety, depression scores and quality of life scores were compared between the two groups before intervention, 3 weeks after intervention and 2 weeks post-surgery. Results:Totally 64 patients in each group completed the study. The age of the experimental group was (49.50 ± 10.46) years, and that of the control group was (50.42 ± 12.50) years. All of them were females. After a 3-week intervention, the serum albumin levels in the experimental group were (42.62 ± 1.56) g/L, compared to (40.50 ± 1.31) g/L 2 weeks post-surgery. In the control group, these values were (40.98 ± 1.35) g/L and (40.00 ± 1.67) g/L, respectively. The differences between groups were statistically significant ( t = -6.38, -1.89, both P<0.05). Additionally, body mass index of the experimental group was (24.02 ± 1.35) kg/m 2 after the 3-week intervention and (23.48 ± 1.72) kg/m 2 2 weeks post-surgery, which were significantly higher than those of the control group (22.98 ± 1.72) kg/m 2 and (22.50 ± 1.31) kg/m 2, respectively ( t = - 3.81, - 3.61, both P<0.05). The anxiety scores in the experimental group were (6.00 ± 2.09) of 3 weeks after intervention and (7.00 ± 2.62) 2 weeks post-surgery, both of which were significantly lower than those in the control group (7.00 ± 2.26) and (8.00 ± 2.76), with statistically significant differences ( t = 2.60, 2.10, both P<0.05). Additionally, the depression scores in the experimental group were (5.00 ± 2.20) of 3 weeks after intervention and (6.00 ± 2.40) 2 weeks post-surgery, which were also significantly lower than those in the control group (6.00 ± 2.02) and (7.00 ± 2.09), with statistically significant differences ( t = 2.68, 2.52, both P<0.05). Furthermore, the quality of life scores in the experimental group were (94.84 ± 18.00) of 3 weeks after intervention and (84.02 ± 17.13) 2 weeks post-surgery, which were significantly higher than those in the control group (82.00 ± 18.75) and (72.03 ± 17.10), with statistically significant differences ( t = - 3.95, - 3.96, both P<0.05). Conclusions:The triple pre-rehabilitation strategy plays a crucial role in mitigating the nutritional risk for breast cancer patients undergoing neoadjuvant chemotherapy, alleviating their negative emotions, and enhancing their quality of life. This approach is anticipated to serve as a valuable reference for preoperative health guidance tailored to breast cancer patients undergoing neoadjuvant chemotherapy.

Objective To investigate the application value of transumbilical single-port total laparoscopic hysterectomy by conventional instrument without uterine-lifting in the treatment of cervical lesions.Methods We selected 60 cases of total laparoscopic hysterectomy due to cervical high-grade squamous intraepithelial lesion(HSIL)or cervical cancer stage ⅠA1 from December 2021 to June 2023.According to the patients'preference,30 cases of single-port laparoscopy through the umbilicus and 30 cases of multi-port laparoscopy were performed,both using conventional instruments without uterine-lifting.The surgical indicators of the two groups were compared.Results No conversion to open surgery occurred in both groups,and no intraoperative injuries to the urinary system,bowel,or major blood vessels occurred.As compared with the multi-port group,the single-port group had significantly reduced amount of bleeding during surgery[(54.6±20.5)ml vs.(67.5±27.0)ml,P = 0.041],earlier anal exhaust time[(27.6±8.0)h vs.(32.2±9.0)h,P =0.040],and shorter total hospitalization time[(4.4±1.5)d vs.(5.1±1.2)d,P = 0.044].There were no significant differences in uterine weight,surgical time,and postoperative complications between the two group(P>0.05).The healing of the abdominal wall puncture wounds in both groups of patients were satisfied.There were no short-term complications related to the puncture device(such as puncture wound infection and bleeding)or long-term complications(such as umbilical hernia and incisional hernia).Conclusion Transumbilical single-port total laparoscopic hysterectomy without uterine-lifting presents advantages of less intraoperative bleeding,faster postoperative recovery,and almost no scarring,with complications similar to traditional laparoscopic surgery.

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 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 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.

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 evaluate the diagnostic value of MSCT in Solitary Pulmonary Nodules (SPN) with different pathologic types .Methods Four-five SPN with pathological findings including 16 benign cases and 29 malignant cases were retrospectively an-alyzed ,and performed with MSCT scanning .Observation of the distribution ,morphology and internal characteristics of SPN by post-processing technique were done ,and the results were compared with pathological findings .Results Among 45 SPN ,the benign nodules included 6 cases of inflammatory pseudotumor ,4 cases of tuberculoma ,3 cases of hamartoma ,2 cases of cryptococcus and 1 case of hemangioendothelioma ,and the malignant nodules included 21 cases of adenocarcinoma ,3 cases of squamous carcinoma ,2 ca-ses of small cell carcinoma and 3 cases of alveolar cell carcinoma .Average diameter of benign nodules was 2 .1 cm ,and 2 .6 cm for the malignant nodules .All SPN ,including 5 cases in the inner zone ,12 in the medial zone and 28 in the lateral zone ,the percentages with malignant signs at the corresponding parts were 40% (2/5) ,50% (6/12) ,75% (21/28) ,there was significant difference be-tween distributions(P<0 .05) .The distributions of malignant nodules in the upper and lower lung lobe had no significant difference (P>0 .05);the incidences of leaf sign ,burr sign ,pleural indentation sign ,cavitas and bronchial air sign ,blood vessels cluster sign of malignant nodules were higher than that of the benign nodules(P<0 .05) ,and the inflammatory pseudotumor and adenocarcinoma owned similar characteristics ;the incidence of calcification in tuberculoma and hamartoma was high ,while cavitas in tuberculosis and lung cancer were high .Conclusion MSCT can sufficiently display the distribution ,morphology and internal characteristics of SPN , and can help make qualitative diagnosis of benign and malignant SPN ,providing great practical value in clinical treatment .