Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based on the mode of inheritance; and among them, most autosomal recessive hereditary spastic paraplegia cases are due to type SPG11 and SPG15 gene mutations. Autosomal recessive hereditary spastic paraplegia cases with SPG30 gene mutation have never been reported in China. Herein, we present our experience with a case of hereditary spastic paraplegia with SPG30 gene mutation in our hospital from North East China. In this patient we detected a missense mutation of c.499 C>T (p.Arg167Cys) in gene KIF1A, a causative gene of type SPG30.

Objective To investigate the inhibitive effects of Ad-PUMA combined with temozolomide on human glioblastoma cells growth in vivo experiments. Methods The nude mouse model with human glioblastoma cells subcutaneous transplantation was established. The mice were randomly divided into 4 groups to receive subcutaneous injection at the 14th day separately with: Normal saline 100 μl (control, n=8), Ad-PUMA 2×108 pfu/100 μl (PUMA group, n=8), 10 mg/kg TMZ (TMZ group, n=8) and 2×108 pfu/100 μl Ad-PUMA + 10 mg/kg TMZ (combined group, n=8). Mice were killed after 20 days treatment.Tumor volume, inhibition rates and apoptotic index (AI) were measured, meanwhile, apoptotic tumor cells were detected by TUNEL technology respectively. The expression of MGMT mRNA and MGMT protein were revealed by the methods of RT-PCR and Western blot. Results According to the order: control group, AdPUMA group, TMZ group, combined group, tumor volumes were (3.68±0.09), (2.63±0.13), (2.13±0.07),(0.97±0.02) cm3 respectively (P＜0.05); the inhibitive rates were 0, 28.5 %, 42.1%, 73.6 % respectively and AI were (2.0±1.2) %, (11.4±2.6) %, (7.6±3.2) %, (20.6±8.6) % (P＜0.05). The results of Western blot and RT-PCR showed that MGMT mRNA and MGMT protein levels in TMZ group were higher than other groups (all P＜0.01). Conclusion Ad-PUMA combined with TMZ greatly enhances the sensitivity of human glioblastoma cells to TMZ and could effectively inhibit the proliferation and promote the apeptosis of glioblastoma cells, its mechanism was probably related Ad-PUMA promote apoptosis and inhibit MGMT expression.

Objective To analyze the serious complications of transurethral resection of the prostate (TURP).Methods A retrospective study was conducted to summarize the clinical data of 1950 patients with benign prostatic hyperplasia from January 2005 to December 2014.All patients received TURP.The mean patient Age,disease course,IPSS score,PV and Qmax of 1 950 eligible patients were 71 years (54 to 87 years),7.6 years(0.5 to 15.0 years),(65.1 ±33.4)ml,25.5 ±3.9 and (8.1 ±2.6)ml/s,respectively.Intraoperative and postoperative complications were graded according to the CLASSIC and modified Clavien classifications,respectively.Serious complications were defined as grade Ⅲ or higher.Results Among the TURP procedures,99 serious complications occurred,resulting in a serious complication rate of 5.1％,Serious intraoperative and postoperative complication rates were 1.2％ (24 cases) and 3.9％ (75 cases),respectively.Serious intraoperative complications included ureteral orifice injury (3 cases),bladder explosion (4 cases),and transurethral resection syndrome (17 cases).Serious postoperative complications included massive hemorrhage (26 cases),severe dysuria (18 cases),permanent urinary incontinence (4 cases),cardio-cerebral vascular accident (5 cases),pulmonary thrombosis (3 cases),severe infection(18 cases),and death (1 case).Conclusions Serious complications may occur at any stages during TURP.Understanding the causes and characteristics of complications,strengthening the prevention and effective treatment is the key measure to reduce the incidence rates.

Objective: To explore the causal relationship between gut microbiota and upper urinary tract stones using Mendelian randomization (MR) analysis，and to investigate the potential mediating role of plasma metabolites. Methods: Data on gut microbiota，plasma metabolites，and upper urinary tract stones were obtained from publicly available Genome-wide Association Studies (GWAS).Bidirectional MR analysis was performed to examine the causal relationship between gut microbiota and upper urinary tract stones.Subsequently，a two-step MR approach was employed to determine whether gut microbiota contribute to upper urinary tract stones through plasma metabolites，and the mediating effects and mediator ratio were calculated.The inverse variance weighted (IVW) method was used as the primary analytical tool，supplemented by Bayesian weighted Mendelian randomization (BWMR)，MR-Egger，and weighted median (WM) analyses.Horizontal pleiotropy and heterogeneity tests were conducted to ensure the robustness of the findings. Results: Bidirectional MR analysis identified causal associations between 7 gut microbial taxa and 6 microbial metabolic pathways with upper urinary tract stones，while the development of upper urinary tract stones affected 13 gut microbial taxa and 5 metabolic pathways.Additionally，43 plasma metabolites (including 27 identified metabolites，8 unidentified metabolites，and 8 metabolite ratios) were causally associated with upper urinary tract stones.The two-step MR analysis identified 11 potential causal pathways.After metabolic pathways and unidentified metabolites were excluded，a causal link mediated by Bacteroides faecis between galactarate and upper urinary tract stones was confirmed，with a mediation proportion of 16.99% (95%CI：5.76%-33.95%，P=0.0371). Conclusion: This study establishes a causal relationship between parabacteroides and upper urinary tract stones，and elucidates the mediating role of galactarate，offering new insights into the pathogenesis and prevention strategies for upper urinary tract stones.

Toxoplasmosis is a worldwide zoonosis caused by an intracellular protozoan parasite, Toxoplasma gondii. We report here a diabetic patient who was diagnosed as toxoplasmosis with multiple cranial nerve palsies and cavernous sinusitis. A 37-year-old male presented with an 11-day history of gingival pain, one day history of ptosis and diplopia. He has been having diabetes mellitus for 6 years, and has a history of contact with cats. After admission, his symptoms worsened with right 3rd to 7th cranial nerve palsies. The brain magnetic resonance imaging (MRI) showed cavernous sinusitis in the right sellar region. Serology for toxoplasma was positive for IgM and negative IgG. The patient was treated with oral clindamycin (900 mg/day) and dexamethasone (15 mg/day). The right visual acuity and lid-conjunctival swelling improved after 3 days. At follow-up after a month, the movement of the right eye significantly improved. This case demonstrate the rare occurrence of multiple cranial nerve (3rd to 7th) palsies from toxoplasmosis cavernous sinusitis, which is a potentially treatable condition.