RESUMO
Utilizing RNA sequence (RNA-Seq) splice junction data from a cohort of 1841 B-cell acute lymphoblastic leukemia (B-ALL) patients we define transcriptionally distinct isoforms of ARID5B, a risk-associated gene identified in genome wide association studies (GWAS), which associate with disease survival. Short (S) and long (L) ARID5B transcripts, which differ in an encoded BAH-like chromatin interaction domain, show remarkable correlation to the isoform splicing pattern. Testing of the ARID5B proximal promoter of the S & L isoforms indicated that both are functionally independent in luciferase reporter assays. Increased short isoform expression is associated with decreased event-free and overall survival. The abundance of short and long transcripts strongly correlates to B-ALL prognostic stratification, where B-ALL subtypes with poor outcomes express a higher proportion of the S-isoform. These data demonstrate that the analysis of independent promoters and alternative splicing events are essential for improved risk stratification and a more complete understanding of disease pathology.
Assuntos
Processamento Alternativo , Estudo de Associação Genômica Ampla , Humanos , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Splicing de RNA , Sequência de Bases , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismoRESUMO
STUDY DESIGN: This study is a systematic review. OBJECTIVE: This systematic review aims to synthesize existing studies and highlight the significance of ergonomic considerations for spine surgeons' well-being and the impact on patient outcomes. SUMMARY OF BACKGROUND DATA: Spine surgery is a physically demanding field that poses several risks to surgeons, particularly with musculoskeletal disorders. Despite the well-documented consequences of musculoskeletal injuries endured by surgeons, surgical ergonomics in spine surgery has received limited attention. METHODS: Following PRISMA guidelines, a comprehensive literature search was conducted in PubMed and Embase. Studies focusing on surgeon ergonomics in spine surgery were selected. Data extracted included study details, surgeon demographics, ergonomic factors, and outcomes. Qualitative analysis was performed due to the heterogeneous nature of study designs and criteria. RESULTS: Eleven studies met the inclusion criteria. Six studies utilized surveys to explore physical challenges, prevalence rates of pain, work practices, and ergonomic tools. Two studies employed optoelectronic motion analysis to assess the spinal angles of the surgeon during surgery. Two studies assesed ergonomics in different visualization methods using rapid entire body assessment (REBA). One study applied video analysis to scrutinize surgeons' neck postures during the case. The results demonstrated a varying prevalence and diverse presentations of musculoskeletal disorders, varying impact on surgical performance, and nuanced relationships between experience, workload, and ergonomic concerns. CONCLUSION: This systematic review summarizes the heterogeneous evaluations of ergonomics in spine surgery. Overall, upwards of three-quarters of spine surgeons have reported musculoskeletal discomfort, most commonly presented as back pain, neck pain, and hand/wrist discomfort. These symptoms are often exacerbated by the use of loupes, operating bed height, and extended periods of time in various positions. Studies demonstrate that physical discomfort is associated with the surgeons' mental and emotional well-being, leading to stress, burnout, and reduced job satisfaction, all of which impact patient care.
Assuntos
Ergonomia , Doenças Musculoesqueléticas , Doenças Profissionais , Coluna Vertebral , Cirurgiões , Humanos , Ergonomia/métodos , Doenças Musculoesqueléticas/prevenção & controle , Doenças Musculoesqueléticas/etiologia , Doenças Musculoesqueléticas/cirurgia , Coluna Vertebral/cirurgia , Doenças Profissionais/prevenção & controle , Doenças Profissionais/etiologia , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/métodosRESUMO
Background: Central Nervous System Tuberculosis (CNS-TB) is a serious public health concern causing significant morbidity and mortality, especially in high TB burden countries. Despite the expanding research landscape of CNS-TB, there is no comprehensive map of this field. This work aims to (1) obtain a current and comprehensive overview of the CNS-TB research landscape, (2) investigate the intellectual and social structure of CNS-TB publications, and (3) detect geographical discrepancies in scientific production, highlighting regions requiring increased research focus. Methods: We conducted a bibliometric analysis on CNS-TB literature indexed in Web of Science from 2000 to 2022, evaluating 2130 articles. The dataset was analyzed in R for descriptive statistics. We used R-bibliometrix and VOSViewer for data visualization. Findings: Publication output grew annually at an average rate of 6·88%, driven primarily by India and China. International collaborations comprised 16·44% of total publications but contributed to 11 of the 15 top-cited papers. Additionally, we identified discrepancies of CNS-TB research in many low- and middleincome countries relative to their TB incidence. Interpretation: Our findings reveal a growing interest in CNS-TB research from China and India, countries with rapidly developing economies, high TB burdens, and a recent increase in research funding. Furthermore, we found that international collaborations are correlated with high impact and accessibility of CNS-TB research. Finally, we identified disparities in CNS-TB research in specific countries, particularly in many low- and middle-income countries, emphasizing the need for increased research focus in these regions.
RESUMO
OBJECTIVE: Understanding ergonomic impact is foundational to critically evaluating value and safety of enabling technologies in minimally invasive spine surgeries. This study assessed the impact of a tubular-mounted digital camera (TMDC) versus an optical surgical microscope (OSM) in single-level minimally invasive spine surgeries on operative times, durotomy rate, surgeon ergonomics, safety, and operating room workflow. METHODS: This retrospective study compared consecutive single-level minimally invasive lumbar decompression surgeries in a TMDC cohort (September 2021-June 2022) with an historical OSM cohort (January 2020-July 2021). Data included patient demographics, operative times, durotomy incidence, surgeon ergonomics (Rapid Entire Body Assessment scores), and equipment impact via staff surveys. Operative times were assessed by t test, while Pearson χ2 test compared sex. Age, body mass index, and Charlson Comorbidity Index comparisons were made by Wilcoxon rank sum tests, and survey results were analyzed with Wilcoxon signed rank tests. RESULTS: TMDC and OSM groups included 74 and 82 patients, respectively. Age, sex, and Charlson Comorbidity Index did not significantly differ between groups. The TMDC group had a higher body mass index (29.6 ± 5.1) than the OSM group (29.0 ± 7.5) (P = 0.04). The TMDC group had significantly shorter operative times (57.3 ± 16.6 minutes) than the OSM group) (66.7 ± 22.5 minutes) (P = 0.004), with no difference in durotomy rates (P = 0.42). TMDC use yielded lower Rapid Entire Body Assessment scores compared with OSM (4.1 ± 0.77) (P < 0.001). Surveys indicated improved safety, setup time, and workflow with TMDC (P < 0.001). CONCLUSIONS: TMDC in single-level minimally invasive lumbar decompression surgery improved surgeon ergonomics, reduced operative times, and maintained durotomy rates, enhancing operating room efficiency. Evaluating ergonomic impact of technology is vital for safety and value assessment.