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 evaluate the clinical efficacy of microneedle radiofrequency in the treatment of moderate acne vulgaris.Methods:From August 2018 to August 2020, 393 patients (192 males and 201 females, aged 15-38 years) with moderate acne were enrolled in the Department of Dermatology, the First Affiliated Hospital of Shantou University Medical College and Shantou Chaonan Minsheng Hospital, including 201 patients in experimental group and 192 patients in control group. In the experimental group, microneedle radiofrequency therapy was used once every 2 weeks for 3 times in total. The control group adopted the fire needle, once every 2 weeks, a total of 3 times. The efficacy of both groups was evaluated at week 8.Results:A total of 378 patients were actually completed: 196 patients in the experimental group, and 182 patients in the control group. At the eighth week of follow-up, the total effective rate was 81.12% in the experimental group and 70.43% in the control group. The efficacy of the two groups was statistically different (χ 2=4.42, P<0.05). Conclusions:The efficacy of microneedle radiofrequency therapy in the treatment of moderate acne vulgaris is better than that of fire needle, with good tolerance, short recovery period, few adverse reactions and high compliance, which has clinical promotion value.

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 study the clinicoradiologic significance of C sign.Methods 773 cases of standard ankle CR radiographs were presented for diagnosis of acute trauma and ankle pain. There were 565 males and 208 females, ages ranged from 10 to 81. There were 630 cases of acute trauma and 143 cases of painful ankle. C sign incidence, C sign figuration, distance of the medial facet of talocalcaneal joint, and the figuration of sustentaculum tali were studied. The relationship between C sign and talocalcaneal coalition was analysed.Results The incidence of C sign was 54.6%(422/773). The female incidence was 61.1%(127/208) ,which was more than that of male(52.2%,295/565)(P

Objective To study the incidence and radiologic findings of calcaneonavicular coalition.Methods CR films of foot andankle in 1361 cases were presented,which were evaluated for acute trauma or chronic pain.There were 588 cases of foot CR and 773 cases of ankle CR,age ranged from 10 years to 91 years(984 cases of 20~40 years).The prevalence of calcaneonavicular coalition was determined and the different significance of both male and female,acute trauma and chronic pain group were analysed.Results In 1361 cases,72 cases of calcaneonavicular coalition(5.3%) were demonstrated,8.7%(47/588)on foot CR films and 3.2%(25/773) on ankle CR films.Calcaneonavicular coalition was more dipicted on foot CR films than on ankle CR films(P0.05).Conclusion The foot CR films is more superexcellent than the ankle CR films on demonstrating calcaneonavicular coalition.

20 years)was 8.60%(48/558) , which was more than that in the second decade of life ( 5.22% ). The incidence of painful group was 9.79%(14/143),which was more than that in foot trauma group 6.78%(40/630).The positive C sign was presented in 61.1%(33/54),posterior-type coalition in 38.9%(21/54),short talar neck sign in 61.1%(33/54)and talar beak sign in 22.2%(12/54). Conclusion The talocalcaneal coalition is a common development abnormality in our country. We must pay attention to the diagnosis of talocalcaneal coalition for painful foot adulthood.