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The present study aimed to compare the differences between 3D-printed porous titanium and polyether ether ketone (PEEK) interbody fusion cages for anterior cervical discectomy and fusion (ACDF). Literature on the application of 3D-printed porous titanium and PEEK interbody fusion cages for ACDF was searched in the PubMed, Web of Science, Embase, China National Knowledge Infrastructure, Wanfang and VIP databases. A total of 1,181 articles were retrieved and 12 were finally included. The Cochrane bias risk assessment criteria and Newcastle-Ottawa scale were used for quality evaluation and Review Manager 5.4 was used for data analysis. The 3D cage group was superior to the PEEK cage group in terms of operative time [mean difference (MD): -7.68; 95% confidence interval (CI): -11.08, -4.29; P<0.00001], intraoperative blood loss (MD: -6.17; 95%CI: -10.56, -1.78; P=0.006), hospitalization time (MD: -0.57; 95%CI: -0.86, -0.28: P=0.0001), postoperative complications [odds ratio (OR): 0.35; 95%CI: 0.15, 0.80; P=0.01], C2-7 Cobb angle (MD: 2.85; 95%CI: 1.45, 4.24; P<0.0001), intervertebral space height (MD: 1.20; 95%CI: 0.54, 1.87; P=0.0004), Japanese Orthopaedic Association Assessment of Treatment (MD: 0.69; 95%CI: 0.24, 1.15; P=0.003) and visual analogue scale score (MD: -0.43; 95%CI: -0.78, -0.07; P=0.02). The difference was statistically significant, while there was no significant difference between the two groups in terms of fusion rate (OR: 1.74; 95%CI: 0.71, 4.27; P=0.23). The use of 3D-printed porous titanium interbody fusion cage in ACDF has the advantages of short operation time, less bleeding loss, shorter hospitalization time and fewer postoperative complications. It can better maintain the cervical curvature and intervertebral height, relieve pain and accelerate postoperative functional recovery.
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The pathogenesis of adolescent idiopathic scoliosis (AIS) remains unclear. It has been found that interleukin-6 (IL-6) rs1800795 locus and matrix metalloproteinase-3 (MMP-3) rs3025058 locus gene polymorphisms may be associated with AIS susceptibility, which has been controversial and needs to be further confirmed by updated meta-analysis. The aim of the present study was to investigate the association of MMP-3 rs3025058 and IL-6 rs1800795 single nucleotide polymorphisms (SNPs) with susceptibility to AIS. All relevant articles that met the criteria were retrieved and included, and the publication dates were limited from January 2005 to December 2023. The allele frequencies and different genotype frequencies of IL-6 rs1800795 and MMP-3 rs3025058 loci in each study were extracted and statistically analyzed by ReviewManager 5.4 software, and the odds ratio (OR) and 95% confidence interval (95% CI) of different genetic models were calculated. The results of the meta-analysis showed that there was no significant association between the gene polymorphism of IL-6 rs1800795 locus and the pathogenesis of AIS. The allele 5A and genotype 5A5A of MMP-3 rs3025058 SNP were associated with AIS susceptibility (5A vs. 6A, OR=1.18; 95% CI, 1.04-1.33; 5A5A vs. 6A6A, OR=1.65; 95% CI, 1.23-2.21; and 5A5A vs. 5A6A + 6A6A, OR=1.54; 95% CI, 1.19-1.99). Results of subgroup analysis revealed that the allele 5A and genotype 5A5A of MMP-3 rs3025058 SNP were associated with AIS susceptibility in the Caucasian population, and the susceptibility of AIS was associated with the genotype 5A5A of MMP-3 rs3025058 SNP in an Asian population. There was no significant association between the gene polymorphism of IL-6 rs1800795 locus and the pathogenesis of AIS, while the allele 5A of MMP-3 rs3025058 locus was associated with the susceptibility to AIS, especially in the Caucasian population.
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Pulmonary spindle cell carcinoma (PSCC) is a rare and aggressive non-small cell lung cancer (NSCLC) subtype with a dismal prognosis. The molecular characteristics of PSCC are largely unknown due to its rarity, which limits the diagnosis and treatment of this historically poorly characterized malignancy. We present comprehensive genomic profiling results of baseline tumor samples from 22 patients histologically diagnosed with PSCC, representing the largest cohort to date. Somatic genetic variant detection was compared between paired plasma samples and primary tumors from 13 patients within our cohort. The associations among genomic features, treatment, and prognosis were also analyzed in representative patient cases. TP53 (54.5%), TERT (36.4%), CDKN2A (27.3%), and MET (22.7%) were most frequently mutated. Notably, 81.8% of patients had actionable targets in their baseline tumors, including MET (22.7%), ERBB2 (13.6%), EGFR (9.1%), KRAS (9.1%), ALK (9.1%), and ROS1 (4.5%). The median tumor mutation burden (TMB) for PSCC tumors was 5.5 mutations per megabase (muts/Mb). TMB-high tumors (>10 muts/Mb) exhibited a significantly higher mutation frequency in genes such as KRAS, ARID2, FOXL2, and LRP1B, as well as within the DNA mismatch repair pathway. The detection rates for single nucleotide variants and structural variants were comparable between matched tumor and plasma samples, with 48.6% of genetic variants being mutually identified in both sample types. Additionally, a patient with a high mutation load and positive PD-L1 expression demonstrated a 7-month survival benefit from chemoimmunotherapy. Furthermore, a patient with an ALK-rearranged tumor achieved a remarkable 3-year progression-free survival following crizotinib treatment. Overall, our findings deepen the understanding of the complex genomic landscape of PSCC, revealing actionable targets amenable to tailored treatment of this poorly characterized malignancy.
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Biomarcadores de Tumor , Neoplasias Pulmonares , Mutación , Humanos , Femenino , Masculino , Persona de Mediana Edad , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/mortalidad , Anciano , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/sangre , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Pulmón de Células no Pequeñas/sangre , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Genómica , Adulto , Anciano de 80 o más Años , Estudios de Cohortes , Perfilación de la Expresión Génica , PronósticoRESUMEN
The present study aimed to compare the differences between minimally invasive transforaminal lumbar fusion (MIS-TLIF) and open transforaminal lumbar fusion (TLIF) for multi-segmental lumbar degenerative disease regarding intraoperative indices and postoperative outcomes. PubMed, Web of Science, Embase, CNKI, Wanfang and VIP databases were searched for literature on MIS-TLIF and open TLIF in treating multi-segmental lumbar degenerative diseases. Of the 1,608 articles retrieved, 10 were included for final analysis. The Newcastle-Ottawa Scale and Review Manager 5.4 were used for quality evaluation and data analysis, respectively. The MIS-TLIF group was superior to the open TLIF group regarding intraoperative blood loss [95% confidence interval (CI): -254.33,-157.86; P<0.00001], postoperative in-bed time (95%CI: -3.49,-2.76; P<0.00001), hospitalization time (95%CI: -5.14,-1.78; P<0.0001) and postoperative leg pain Visual Analog Scale score (95%CI: -0.27,-0.13; P<0.00001). The fluoroscopy frequency for MIS-TLIF (95%CI: 2.07,6.12; P<0.0001) was significantly higher than that for open TLIF. The two groups had no significant differences in operation time, postoperative drainage volume, postoperative complications, fusion rate, or Oswestry Disability Index score. In treating multi-segmental lumbar degenerative diseases, MIS-TLIF has the advantages of less blood loss, shorter bedtime and hospitalization time and improved early postoperative efficacy; however, open TLIF has a lower fluoroscopy frequency.
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BACKGROUND: Osteoarthritis (OA) is caused by a complex set of pathophysiological factors. The genetic factors involved in the occurrence and progress of the disease have been widely discussed by scholars. It was found that growth differentiation factor 5 (GDF5) gene polymorphisms may be linked to OA susceptibility, which has been controversial and needs to be further confirmed by an updated meta-analysis. OBJECTIVES: We examined the association between GDF5 rs143383 single nucleotide polymorphism (SNP) and OA susceptibility. METHODS: All relevant articles that met the criteria are retrieved and included, and the search deadline is June 2022. The allele frequencies and different genotype frequencies of GDF5 rs143383 loci in each study were extracted and statistically analyzed by R4.1.3 software, and the different genetic models were analyzed based on their odds ratio (OR) and 95% confidence interval (CI). RESULTS: The meta-analysis explained that GDF5 rs143383 SNP was crucial correlated with OA in all patients with OA of knee, hip and hand. The codominant gene model in the whole crowd (OR = 1.17, 95% CI 1.07-1.27, P < 0.01) enlightened that OA was vitally associated with GDF5 gene polymorphism. At the same time, we did a subgroup analysis based on ethnicity. The codominant gene model (OR = 1.31, 95% CI 1.12-1.53, P < 0.01) in Asian population, the codominant homozygote model (OR = 1.28, 95% CI 1.14-1.43), codominant heterozygote gene model (OR = 1.12, 95% CI 1.01-1.23, P = 0.02), and dominant gene model (OR = 1.19, 95% CI 1.09-1.31, P < 0.01) in Caucasian are analyzed by subgroup analysis. It means that there is a momentous relationship between the GDF5rs143383 gene polymorphism and OA, especially among Caucasians. In addition, we also discussed different types of OA separately and discover that the GDF5rs143383 gene polymorphism was relevant for knee osteoarthritis (KOA) and hand osteoarthritis, and it was more significant in the Caucasian population. But due to the high heterogeneity in hip osteoarthritis, it could not be accurately concluded. Furthermore, we also analyzed the osteoarthritis of different genders and found that the GDF5 rs143383 SNP was associated with both men and women and was still significant in the Caucasian population. CONCLUSION: We found a close association between osteoarthritis and GDF5rs143383SNP in this study. From the analysis of each group, we got the same conclusion in KOA and hand OA, but which need further verification in hip OA. Considering gender, we found a close relationship between GDF5 rs143383 SNP and OA of the knee, hip and hand, both for men and women. This conclusion is more obvious in Caucasian people.
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Osteoartritis de la Cadera , Osteoartritis de la Rodilla , Femenino , Humanos , Masculino , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Factor 5 de Diferenciación de Crecimiento/genética , Osteoartritis de la Rodilla/genética , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.
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The incidence of lumbar spinal stenosis is increasing annually, and with an ever-aging population and longer life expectancies, this trend will further continue. It is hoped that a more effective treatment can be found so that the patients can be relieved of their pain. The aim of this systematic review and meta-analysis was to evaluate the effectiveness and safety of unilateral biportal endoscopic surgery (UBE) and microscopic decompression surgery (MD) for the treatment of lumbar spinal stenosis. A literature search of related studies published until April 2022 was performed using PubMed, EMBASE, Cochrane Library, Web of Science, ClinicalTrials.gov, Google Scholar, China National Knowledge Infrastructure (CNKI), and other databases. After filtering of references, 12 eligible studies were identified that compared UBE with MD as a treatment for lumbar spinal stenosis. Data were extracted and analysed using R. A total of 12 articles (four randomized controlled and eight cohort studies) were included, with a total of 1,067 patients: 250 men and 249 women in the UBE group and 290 men and 278 women in the MD group. The meta-analysis showed that the mean intraoperative blood loss in the UBE group [standardized mean difference (SMD)=-2.10, 95% confidence interval (CI) (-3.97, -0.23), P=0.03] was lower than that in the MD group. The postoperative Visual analogue scale (VAS) score for back pain [SMD=-0.52, 95% CI (-0.76, -0.27), P<0.01], leg pain [SMD=-0.30, 95% CI (-0.51, -0.08), P<0.01], postoperative Oswestry disability index [(ODI); SMD=-0.25, 95% CI (-0.48, -0.03), P=0.03], and postoperative C-reactive protein [(CRP); odds ratio (OR)=-0.92, 95% CI (-1.80, 0.03), P=0.04] were lower than those in the MD group. Complications (OR=0.60, 95% CI (0.37, 0.98), P=0.04) and hospital stay (SMD=-1.84, 95% CI (-2.85, 0.83), P <0.01] were also lesser in the UBE group than in the MD group. UBE was preferable to that in the MD group according to the modified MacNab score [OR=2.28, 95% CI (1.28, 4.06), P<0.01]. No significant differences were observed in the operation times between the groups. UBE surgery was found to be a better option for the treatment of lumbar spinal stenosis than MD surgery.
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Background: Lung cancer is the most prevalent cancer worldwide and accounts for approximately 20% of cancer-related death in China every year. High-grade lung cancer poses a significant threat to patients, and developing a novel treatment for these patients requires an understanding of its underlying mechanism. Methods: Chinese patients with lung cancer were enrolled. The tumor samples were collected by surgery or puncture and applied for next-generation sequencing. A panel of pan-cancer genes was targeted, and the sequencing depth was set to over 1,000 to improve the sensitivity of detecting mutations. Short-length mutations (substitution, insertion, and deletion), copy number variation, and gene fusion were called. Gene mutations were compared between low-grade, middle-grade, and high-grade tumors using Fisher's exact test. The enriched pathways in each grade of tumors were also inferred. Results: The study included 173 Chinese patients with non-small cell lung cancer, of whom 98 (56.6%) patients were female and 75 (43.4%) were male, with a mean age of 56.8 years. All patients were microsatellite stable; 66.4% were at the early stages (Stages 0, I, and II) with a tumor mutational burden of approximately 2.5 (confidence interval = [0, 48.3]). Compared to low-grade tumors, high-grade tumors had a significantly higher percentage of mutations in TP53 (75.9% vs 34.4%, p = 1.86e-3) and PIK3CA (24.1% vs. 0%, p = 3.58e-3). Pathway analysis found that high-grade tumors were enriched with mutations in bacterial invasion of epithelial cells (31% vs. 0%, p = 5.8e-4), Epstein-Barr virus infection (79.3% vs. 37.5%, p = 1.72e-3), and the Wnt signaling pathway (75.9% vs. 34.4%, p = 1.91e-3). High-grade tumors had a significantly higher tumor mutational burden than low-grade tumors (p-value = 0.0017). However, actionable mutations with high-level evidence were lower in high-grade tumors. Conclusion: Patients with high-grade tumors from lung cancer may be more affected by bacteria and Epstein-Barr virus than low-grade tumors. High-grade tumors were specially mutated in TP53 and PIK3CA and may benefit more from immunotherapy. Further research on the underlying mechanism of high-grade lung cancer is necessary to develop new therapeutic options. Lung cancer, tumor grade, genomic mutations, Epstein-Barr virus, pathway analysis.
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BACKGROUND: Whether or not uniportal video-assisted thoracoscopic surgery (VATS) is beneficial for spontaneous pneumothorax remains inconclusive. This meta-analysis aimed to summarize the available evidence to assess the feasibility and advantages of uniportal VATS for the treatment of spontaneous pneumothorax compared with three-port VATS. METHODS: Eligible publications were identified by searching the Cochrane Library, PubMed, EMBASE, Web of Science, China National Knowledge Infrastructure (CNKI), Wanfang Data databases and CQVIP. Odds ratios (OR) and standardized mean differences (SMD) with 95% confidence intervals (CI) were calculated to compare dichotomous and continuous variables, respectively. RESULTS: This meta-analysis was based on 17 studies and included a total of 988 patients with spontaneous pneumothorax. No death was reported during the perioperative period. Compared with three-port VATS groups, there was a statistically significant difference in uniportal VATS groups regarding postoperative hospital stay (SMD= -0.58; 95% CI: -1.04 to -0.12; P=0.01), paresthesia (OR=0.13; 95% CI: 0.07 to 0.24; P<0.00001), visual analogue pain score (VAS) at 24 hours (h) (SMD= -0.87; 95% CI: -1.07 to -0.68; P<0.00001), VAS at 72 h (SMD= -0.49; 95% CI: -0.68 to -0.30; P<0.00001), and patients satisfaction scale (PSS) at 24 h (SMD= -0.81; 95% CI: -1.21 to -0.41; P<0.0001), PSS at 48 h (SMD= -0.69; 95% CI: -1.08 to -0.29; P=0.0007). However there was no statistically significant difference on the recurrence (OR=0.79; 95% CI: 0.42 to 1.46; P=0.45), operative time (SMD= -0.23; 95% CI: -0.21 to 0.67; P=0.31), length of postoperative drainage (SMD= -0.17; 95% CI: -0.40 to -0.07; P=0.16), VAS at 48 h (SMD= -0.40; 95% CI: -1.47 to 0.67; P=0.46), and PSS at 72 h (SMD= -0.13; 95% CI: -0.52 to -0.25; P=0.50). CONCLUSIONS: The results for mortality, recurrence, operative time, and length of postoperative drainage were similar between uniportal and three-port VATS. Uniportal VATS resulted in reduction in postoperative pain and paresthesia as well as an improvement in patients' satisfaction. This meta-analysis indicated that using uniportal VATS to treat spontaneous pneumothorax was safe and feasible, and it may be a better alternative procedure because of its advantage in reducing postoperative pain and paresthesia.