Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.

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.

Transurethral Resection of Bladder Tumor: Novel Techniques in a New Era.

Transurethral resection of bladder tumor (TURBT) serves both diagnostic and therapeutic purposes in the management of bladder cancer. Attaining a high-quality TURBT is not always guaranteed due to various factors. resection of bladder tumors (ERBT) holds promise to be a primary technique for removing bladder tumors in most non-muscle invasive bladder cancers.

Transurethral Hem-o-lok Clip Ligation of the Distal Ureter in Retroperitoneal Laparoscopic Radical Nephroureterectomy.

Background And Objective: Distal ureter management is an essential part of radical nephroureterectomy (RNU). However, there is no agreement on the optimal surgical treatment for ureter and bladder cuff excision. The classical "pluck" technique following transurethral resection of the intramural ureter increases the risk of extravesical and intravesical tumor cell spillage.

Mechanism of tumor-derived extracellular vesicles in prostatic cancer progression through the circFMN2/KLF2/RNF128 axis.

Circular RNAs (circRNAs) are a major type of cargos encapsulated in extracellular vesicles (EVs) and regulate the progression of prostatic cancer (PC). This study was conducted to explore the role of tumor-derived EVs in PC cell proliferation, invasion, and migration via shuttle of circRNA formin 2 (circFMN2). RT-qPCR or Western blot assay showed that circFMN2 was upregulated while KLF2 and RNF128 were downregulated in PC tissues and cells.

Short-term and long-term outcomes of intracorporeal "V-O manner" ureter-ileal anastomosis in robotic-assisted laparoscopic radical cystectomy with urinary diversion: a retrospective cohort study.

Background: There are several ways to perform ureter-ileal anastomosis (UIA), but there is currently no universally recognized standard approach. Unfortunately, these approaches may increase the risk of urine leakage or stricture. The aim of this study is we to describe an intracorporeal "V-O manner" UIA in robotic-assisted laparoscopic radical cystectomy (RARC) with urinary diversion, and to evaluate the short- and long-term patient outcomes.

A superior articular process morphology of 5th lumbar vertebra prone to screws placement failure: an anatomical study of 299 patients.

Purposes: This study aimed to investigate whether the morphology of the superior articular processes of L5 vertebra affected the accuracy of pedicle screw placement by reviewing 299 patients who had undergone L5 pedicle screw fixation over the past 12 months and measuring relevant parameters.

Methods: We retrospectively analyzed patients who underwent L5 vertebra fixation at our spine surgery department from October 20, 2020 to October 20, 2021. Patients with spondylolisthesis, spondylolysis, and scoliosis were excluded.

Mechanism of erythropoietin-induced M2 microglia polarization via Akt / Mtor / P70S6k signaling pathway in the treatment of brain injury in premature mice and its effect on biofilm.

We investigated the mechanism of erythropoietin (EPO) in brain injury in premature mice based on Akt/mTOR/p70S6K signaling pathway. The brain injury model group of premature mice was obtained by intraperitoneal injection of lipopolysaccharide during pregnancy. Normal mice were taken as the control group.

A potential panel of five mRNAs in urinary extracellular vesicles for the detection of bladder cancer.

Background: Extracellular vesicles (EVs) have showed promising potential in liquid biopsy of cancer. In present study, we evaluate the feasibility to diagnose bladder cancer using EVs RNA markers identified from public tissue RNA sequencing data.

Methods: We used urine samples from a cohort of population with suspected bladder cancer.

Clinical effects of transforaminal approach vs interlaminar approach in treating lumbar disc herniation: A clinical study protocol.

Background: Percutaneous endoscopic lumbar discectomy (PELD) has routinely performed in recent years for lumbar disc herniation because of the advances in technology of minimally invasive spine surgery. Two common operating routes for PELD have been introduced in the literature: transforaminal approach (TA) and interlaminar approach (IA). The purpose of our current retrospective clinical trial was to study whether the effect of IA-PELD is better than TA-PELD in the incidence of complications and clinical prognosis scores in the patients with L5-S1 lumbar disc herniation.

Comparison of percutaneous endoscopic discectomy and microendoscopic discectomy in treatment of symptomatic lumbar disc herniation: A protocol of cohort study.

Background: Despite some researchers have compared the safety and effectiveness of percutaneous endoscopic discectomy (PED) and microendoscopic discectomy (MD) for the lumbar disc herniation; however, they got conflicting outcomes in several variables. Therefore, our aim was to clarify whether PED produces less surgical trauma and better clinical results than MD.

Methods: A single-center, retrospective cohort trial was conducted for the comparison of the safety and effectiveness between the MD and PED in the patients with lumbar disc herniation who received surgery from May 2016 to July 2018 in our hospital.

Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm Infants.

Background: Single Nucleotide Polymorphisms (SNPs) in the Erythropoietin (EPO) promoter region have been shown to influence EPO protein expression, and high blood levels of EPO are associated with an increased risk of brain injury in very preterm infants. Here, we investigated the genotype distributions and association of three EPO gene polymorphisms (rs1617640, rs551238, and rs507392) with the risk of brain injury in preterm infants.

Methods: 304 preterm infants with a gestational age of 28 to 34 weeks were enrolled in this study.

GDF15 promotes osteosarcoma cell migration and invasion by regulating the TGF‑β signaling pathway.

Growth and differentiation factor 15 (GDF15), a novel divergent member of the transforming growth factor‑β (TGF‑β) superfamily, was previously reported to be overexpressed in various types of cancers and was shown to be involved in tumor metastasis; however, the role of GDF15 in the development and malignant progression of osteosarcoma remains unclear. In the present study, reverse transcription‑quantitative polymerase chain reaction, western blot and ELISA analyses were performed to detect mRNA and protein expression, including that of GDF15, SMAD2 and SMAD3. Wound‑healing and cell invasion assays were conducted to determine the migratory and invasive abilities of osteosarcoma cells.

[Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus].

Objective: To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.

Methods: The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.

Results: As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.

Facet Sagittal Orientation: Possible Role in the Pathology of Degenerative Lumbar Spinal Stenosis.

Study Design: A retrospective case-control study.

Objective: This study aimed to elucidate the association between facet joint orientation and degenerative lumbar spinal stenosis (DLSS).

Summary Of Background Data: Many studies have demonstrated the relationship between sagittal facet orientation and degenerative lumbar spondylolisthesis.

A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks.

[Relationship between serum erythropoietin levels and brain injury in preterm infants].

Objective: To study the relationship between the levels of erythropoietin (EPO) in serum and brain injury in preterm infants.

Methods: Three hundred and four preterm infants (gestational age: 28-34 weeks) born between October 2014 and September 2015 were enrolled in this study. Brain injury was diagnosed using cerebral ultrasound and MRI.

Interferon regulatory factor 8 functions as a tumor suppressor in renal cell carcinoma and its promoter methylation is associated with patient poor prognosis.

Interferon regulatory factor 8 (IRF8), as a central element of IFN-γ-signaling, plays a critical role in tumor suppression. However, its expression and underlying molecular mechanism remain elusive in renal cell carcinoma (RCC). Here, we examined IRF8 expression and methylation in RCC cell lines and primary tumors, and further assessed its tumor suppressive functions.

Pure laparoscopic and robot-assisted laparoscopic reconstructive surgery in congenital megaureter: a single institution experience.

To report our experience of pure laparoscopic and robot-assisted laparoscopic reconstructive surgery in congenital megaureter, seven patients (one bilateral) with symptomatic congenital megaureter underwent pure laparoscopic or robot-assisted laparoscopic surgery. The megaureter was exposed at the level of the blood vessel and was isolated to the bladder narrow area. Extreme ureter trim and submucosal tunnel encapsulation or papillary implantations and anti-reflux ureter bladder anastomosis were performed intraperitoneally by pure laparoscopic or robot-assisted laparoscopic surgery.

Laparoscopic partial nephrectomy for multilocular cystic renal cell carcinoma: a potential gold standard treatment with excellent perioperative outcomes.

Background: To report on the perioperative outcomes of laparoscopic partial nephrectomy (LPN) for multilocular cystic renal cell carcinoma (MCRCC) and evaluate the feasibility of this minimally invasive technique as a potential gold standard treatment for MCRCC.

Methods: We retrospectively reviewed the database of surgically pathological findings of patients who were diagnosed with MCRCC at Peking University First Hospital and Chinese PLA General Hospital (Beijing, China) between May 2009 and January 2013. A total of 42 patients with an average age of 48.

[Liver and heart iron deposition status in patients with β thalassemia major: a multicenter study].

Objective: To observe the status of iron deposition in patient with β thalassemia major, and to formulate appropriate treatment strategies.

Method: The data of status of transfusion and chelation in 135 patients aged from 6 years and 4 months to 17 years and 11 months with β thalassemia major were collected and analyzed. Serum ferritin levels were determined and cardiac and hepatic iron deposition was determined using MRI T2(*) technology.

[Early multi-disciplinary intervention reduces neurological disability in premature infants].

Objective: This study aimed to evaluate the effectiveness of multi-disciplinary treatment approaches in reducing neurological disabilities in premature infants.

Methods: A total of 117 infants who were born premature in our hospital between March 2008 and February 2010 but had no congenital malformations and no severe neonatal complications, were enrolled in this study. They were randomly allocated to a multi-disciplinary treatment group (n=63) and a control group (n=54).

A matched-pair comparison between bilateral intrafascial and interfascial nerve-sparing techniques in extraperitoneal laparoscopic radical prostatectomy.

The aim of this study was to validate the advantages of the intrafascial nerve-sparing technique compared with the interfascial nerve-sparing technique in extraperitoneal laparoscopic radical prostatectomy. From March 2010 to August 2011, 65 patients with localized prostate cancer (PCa) underwent bilateral intrafascial nerve-sparing extraperitoneal laparoscopic radical prostatectomy. These patients were matched in a 1:2 ratio to 130 patients with localized PCa who had undergone bilateral interfascial nerve-sparing extraperitoneal laparoscopic radical prostatectomy between January 2008 and August 2011.