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

The molecular identification of Fritillaria taibaiensis and its relatives was studied by real-time PCR with a TaqMan-MGB probe. DNA was extracted from F. taibaiensis and its relatives. According to the sequence of ITS1 region, the mutation sites of F. taipaiensis and its related species were identified by MEGA7.0 software. The specific primers (a pair) and a TaqMan-MGB probe were designed by Primer Premier 6.0 software. In the Roche LightCycler 96 system, the lowest limit of detection for F. taipaiensis DNA template was 0.002 39 ng·μL^-1, and the optimal T_m value range was 60 and 61 ℃. Specificity identification showed that the method had good specificity for F. taipaiensis, as it could be distinguished from other 13 different Fritillaria species including F. unibracteata. Since this method could accurately identify F. taipaiensis and its related species, it provides technical support for rational development of F. taipaiensis resources, management of Chinese medicinal market and supervision of raw materials in Chinese medicine manufacturing enterprises.

Objective To investigate and analyze the clinical efficacy of cefoperazone and Shubatan in the treatment of severe infection in emergency department. Methods 100 cases of severe infection were randomly divided into control group and experimental group, with 50 patients in each group. The control group received routine treatment, and the experimental group was treated with cefoperazone and Shubatan on this basis. Pay close attention to the related vital signs change of the experimental group and the control group, the relevant clinical indicators of the two groups of patients were compared and analyzed. Results After the corresponding treatment, the bacteria removal rate of the experimental group was 90.00%, significantly higher thant 60.00 % of the control group (P<0.05). The effective rate of the experimental group was 90.00%, which was significantly higher than that of the control group (74.00%), which was statistically significant (P<0.05). There were no obvious adverse reactions in the two groups. After treatment, the total score of quality of life in the experimental group was (75.2±11.2) points, and the total score of QOL in the control group was (64.2±9.3) points, which was statistically significant (P<0.05). Conclusion The clinical efficacy of cefoperazone and Shubatan in the treatment of emergency severe infection is satisfactory. It can significantly improve the clinical symptoms and improve the quality of life in patients with severe acute respiratory infection.

OBJECTIVETo search for the best program increasing clinical therapeutic effect on vertebrobasilar insufficiency (VBI) and to study the mechanism.

METHODSThe patients were randomly divided into an acupuncture plus massage group, an acupuncture group and a massage group. Their therapeutic effects were observed and compared. And transcranial Doppler (TCD) was used for detection of systolic flow velocity (Vs), enddiastolic peak flow velocity (Vd), mean peak flow (Vm) and pulsatility index (PI) before and after treatment.

RESULTSThe cured rate and the total effective rate in the acupuncture plus massage group were significantly higher than the acupuncture group and the massage group (P < 0.05). And there were significant differences in Vm, PI and DI in the left vertebral artery (LVA), the right vertebral artery (RVA) and the basilar artery (BA) before and after treatment (P < 0.01).

CONCLUSIONAcupuncture combined with massage can improve Vm, PI, DI of VA-BA and the clinical therapeutic effect on VBI as well. It is superior to the simple acupuncture therapy and simple massage therapy. At present, it is one of the best therapy for VBI.

Acupuncture Therapy ; Basilar Artery ; Humans ; Massage ; Vertebral Artery ; Vertebrobasilar Insufficiency ; therapy