The synergistic corrosion of carbon steel by sulfate-reducing bacteria and methanogenic archaea microbial communities.

The impact of sulfate-reducing bacteria (SRB) and methanogenic archaea (MA) on the corrosion of carbon steel was examined through weight loss tests, electrochemical measurements, surface analyses, and metagenomic analyses. The findings indicated that SRB and MA exhibited a synergistic effect on the corrosion process. This resulted in a significant increase in corrosion weight loss in the SRB + MA group (16.

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder.

Background: To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants.

Methods: Whole-exome sequencing (WES) was conducted on the proband, and candidate variants were validated using Sanger sequencing within the family. The effect of the identified splicing variant on SMARCC2 mRNA processing was analyzed using reverse transcription PCR (RT-PCR) and TA-clone sequencing using samples derived from the proband.

Association of oxidative balance score with epilepsy and moderate to severe depression: Insights from the NHANES study.

Background: Depression is a significant public health issue, closely associated with epilepsy and oxidative stress (OS). This study aims to explore the level of OS in patients with epilepsy and its relationship with moderate to severe depression (MSD).

Methods: This cross-sectional study includes 10,819 participants aged 20-80 from the National Health and Nutrition Examination Survey (NHANES) database (2013-2020 pre-pandemic).

Exploring correlations between immune cell phenotypes and the risk of epilepsy: A bidirectional Mendelian randomization study.

Background: Neuroinflammation plays an important pathophysiological role in epilepsy; however, the precise connection between immune cells and epilepsy remains unclear. This study used Mendelian randomization (MR) to analyze the causal relationship between 731 immune cell traits and epilepsy.

Methods: Based on data from a genome-wide association study (GWAS), a bidirectional two-sample MR analysis was conducted to investigate the potential influence of immune cell phenotypes on epilepsy.

Family cohesion and quality of life significantly affecting personality changes in adult epilepsy patients: a case-control study.

Objective: The goal of epilepsy treatment is not only to control convulsive seizures but also to improve the quality of life of patients. This study aimed to investigate personality changes and the risk factors for their development in adult epilepsy patients.

Methods: A case-control study in a Class III, Class A hospital.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.

Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology.

Autosomal dominant neurodevelopmental disorders associated with gene variants in 6 pediatric patients.

Objectives: To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation.

Methods: Clinical and genetic testing data of 6 children with gene heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year 2018 to 2020 were retrospectively analyzed. Pathogenic variants were identified based on whole exome sequencing, and verified by Sanger sequencing.

Reconstruction of the proximal radius with 3D-printed personalized prosthesis after tumor resection: case series.

Background: Giant cell tumor of bone (GCTB) (Campanacci III) or malignant tumors extend to the epiphyseal region of the proximal radius, and intra-articular resection of the proximal radius is often needed. In the present study, we present the patients who underwent reconstruction of the proximal radius with 3D-printed personalized prosthesis after tumor resection, aiming to describe the prosthesis design and surgical technique and evaluate the clinical outcomes of this method.

Methods: Between November 2018 and January 2021, 9 patients received radial hemiarthroplasty with 3D-printed personalized prostheses after tumor resection.

Hip reconstruction using a customized intercalary prosthesis with the rhino horn-designed uncemented stem for ultrashort proximal femur segments following tumor resection: a combined biomechanical and clinical study.

Background: Hip-preserved reconstruction for patients with ultrashort proximal femur segments following extensive femoral diaphyseal tumor resection is a formidable undertaking. A customized intercalary prosthesis with a rhino horn-designed uncemented stem was developed for the reconstruction of these extensive skeletal defects.

Methods: This study was designed to analyze and compare the differences in the biomechanical behavior between the normal femur and the femur with diaphyseal defects reconstructed by an intercalary prosthesis with different stems.

Hematological Prognostic Scoring System Can Predict Overall Survival and Can Indicate Response to Immunotherapy in Patients With Osteosarcoma.

Osteosarcoma is the most common primary malignant bone tumor with a high metastatic potential. Nowadays, there is a lack of new markers to identify prognosis of osteosarcoma patients with response to medical treatment. Recent studies have shown that hematological markers can reflect to some extent the microenvironment of an individual with the potential to predict patient prognosis.

A Nutritional Metabolism Related Prognostic Scoring System for Patients With Newly Diagnosed Osteosarcoma.

Osteosarcoma is a primary malignant bone tumor with high metastatic potential. To date, achieving long-term survival of osteosarcoma patients remains a difficult task. Metabolic reprogramming has emerged as a new hallmark of cancer.

Is three-dimensional-printed custom-made ultra-short stem with a porous structure an acceptable reconstructive alternative in peri-knee metaphysis for the tumorous bone defect?

Background: Long-lasting reconstruction after extensive resection involving peri-knee metaphysis is a challenging problem in orthopedic oncology. Various reconstruction methods have been proposed, but they are characterized by a high complication rate. The purposes of this study were to (1) assess osseointegration at the bone implant interface and correlated incidence of aseptic loosening; (2) identify complications including infection, endoprosthesis fracture, periprosthetic fracture, leg length discrepancy, and wound healing problem in this case series; and (3) evaluate the short-term function of the patient who received this personalized reconstruction system.

Three-dimensional-printed custom-made hemipelvic endoprosthesis for the revision of the aseptic loosening and fracture of modular hemipelvic endoprosthesis: a pilot study.

Background: The aims of this pilot study were (1) to assess the efficacy of 3D-printed custom-made hemipelvic endoprosthesis in restoring the natural location of acetabulum for normal bodyweight transmission; (2) to evaluate the short-term function of the revision with this endoprosthesis and (3) to identify short-term complications associated with the use of this endoprosthesis.

Methods: Between February 2017 and December 2017, seven patients received revision with 3D-printed custom-made hemipelvic endoprosthesis. The body weight moment arm (BWMA) and cup height discrepancy (CHD) after primary and revisional surgery were analyzed to assess acetabulum location with plain radiography.

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.

Objectives: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness.

Methods: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family.