Tag: pubmed

Acta Chir Orthop Traumatol Cech. 2024;91(3):156-163. doi: 10.55095/achot2024/021.

ABSTRACT

PURPOSE OF THE STUDY: To investigate the effects of anatomical variations on the mechanism of scaphoid fracture by comparing the radiologic parameters of the wrist of patients with and without scaphoid fracture after a fall on an outstretched hand.

MATERIAL AND METHODS: Cross-sectional comparative retrospective analysis of radiographs of patients with (Group 1, n=169) and without scaphoid fracture (Group 2, n=188). Morphometric data were measured including radial inclination (RI), radial height (RH), ulnar variance (UV), carpal height (CH) ratio, revised carpal height (RCH) ratio and palmar tilt of the distal radius (PT). Receiver operating characteristics (ROC) curve analysis was used to assess the diagnostic performance for each variable with statistically significant difference.

RESULTS: The mean RI and PT degrees and RH length were statistically significantly higher, and the mean UV was lower in Group 1 compared to Group 2. No difference was determined between the groups with respect to the CH ratio and RCH ratio. With ROC curve analysis, the cut-off value with the highest odds ratio was determined as RH (Cut-off value=10.77 mm, OR=21.886).

CONCLUSIONS: Although higher RI, RH, PT values and more negative ulnar variance were observed in the scaphoid fracture group compared to the non-fracture group, ROC curve analysis showed that only increased RH can be considered as a possible risk factor for scaphoid fractures after fall on an outstretched hand.

KEY WORDS: radiographs, risk factor, scaphoid fracture, wrist morphology.

PMID:38963894 | DOI:10.55095/achot2024/021

Acta Chir Orthop Traumatol Cech. 2024;91(3):151-155. doi: 10.55095/achot2024/019.

ABSTRACT

PURPOSE OF THE STUDY: Our aim was to compare the effects of intraarticular and intravenous (IV) tranexemic acid (TXA) application on bleeding and complication rates in patients who underwent total knee arthroplasty (TKA).

MATERIAL AND METHODS: Between 2017 and 2021, 406 patients who underwent TKA with 2 g of IV TXA and retrograde 1.5 g of TXA applied through the drain were included in the study. Of the patients, 206 were in the IV TXA group. Preoperative and postoperative hemoglobin levels, drain output, BMI, ASA score, blood loss, and the number of transfused patients were recorded. Complications such as symptomatic venous thromboembolism were also recorded.

RESULTS: There was no significant difference between the two groups in terms of age, sex, American Society of Anesthesiologists (ASA) score, or BMI (p = 0.68, 0.54, 0.28, 0.45). Total drain output and blood loss were significantly higher in the IV TXA group than in the intraarticular TXA group (p < 0.0001, p < 0.0001). Eighteen patients in the IV TXA group and 1 patient in the intraarticular TXA group received a blood transfusion (p < 0.0001). There was no difference between the two groups in terms of preoperative hemoglobin or platelet count (p = 0.24). However, postoperative hemoglobin level was higher in the patients who received intraarticular TXA (p=0.0005). More thromboembolism events were seen in the IV TXA group (p < 0.0001).

CONCLUSIONS: Intraarticular TXA application reduces blood loss more than IV application, reduces the blood transfusion rate, and causes fewer complications.

KEY WORDS: tranexemic acid, total knee arthroplasty, intraarticular injection, blood loss, blood transfusion.

PMID:38963893 | DOI:10.55095/achot2024/019

Acta Chir Orthop Traumatol Cech. 2024;91(3):143-150. doi: 10.55095/achot2024/020.

ABSTRACT

PURPOSE OF THE STUDY: Vascularised bone grafting (VBG) and non-vascularised bone grafting (NVBG) are crucial biological reconstructive procedures extensively employed in the management of bone tumours. The principal aim of this study is to conduct a comparative analysis of the post-resection outcomes associated with the utilisation of vascularised and non-vascularised bone grafts.

MATERIAL AND METHODS: A comprehensive and systematic literature review spanning the years 2013 to 2023 was meticulously executed, utilising prominent online databases including PubMed/Medline, Google Scholar, and Cochrane Library. Inclusion criteria were restricted to comparative articles that specifically addressed outcomes pertaining to defect restoration following bone tumour resection via vascularised and non-vascularised bone grafting techniques. The quality of research methodologies was assessed using the Oxford Quality Scoring System for randomised trials and the Newcastle Ottawa Scale for non-randomised comparative studies. Data analysis was conducted using SPSS version 24. Key outcome measures encompassed the Musculoskeletal Tumour Society Score (MSTS), bone union duration, and the incidence of post-operative complications.

RESULTS: This analysis incorporated four clinical publications, enrolling a total of 178 participants (comprising 92 males and 86 females), with 90 patients subjected to VBG and 88 to NVBG procedures. The primary endpoints of interest encompassed MSTS scores and bone union durations. Although no statistically significant distinction was observed in the complication rates between the two cohorts, it is noteworthy that VBG exhibited a markedly superior bone union rate (P<0.001).

CONCLUSIONS: Our systematic evaluation revealed that VBG facilitates expedited bone union, thereby contributing to accelerated patient recovery. Notably, complication rates and functional outcomes were comparable between the VBG and NVBG groups. Moreover, the correlation between bone union duration and functional scores following VBG and NVBG merits further investigation.

KEY WORDS: reconstruction techniques, vascularised bone grafting, non-vascularised bone grafting, bone tumor, resection.

PMID:38963892 | DOI:10.55095/achot2024/020

Acta Chir Orthop Traumatol Cech. 2024;91(3):137-142. doi: 10.55095/achot2024/022.

ABSTRACT

PURPOSE OF THE STUDY: The study describes changes in gait parameters (temporal-spatial parameters, kinematic parameters represented by the global Gait Deviation Index) of individuals with Adolescent Idiopathic Scoliosis (AIS) compared to the healthy population. The hypothesis assumed a difference in the observed parameters between the two mentioned groups.

MATERIAL AND METHODS: In a retrospective study, the temporal-spatial parameters and Gait Deviation Index (GDI) of a cohort of 45 AIS patients (36 girls and 9 boys with the mean age of 15.2 years, the mean Cobb angle of the thoracic curve of 47.3° and the lumbar curve of 51.8°) were compared to a typically developing population of 12 healthy individuals with no musculoskeletal pathology. The difference of followed-up parameters in patients with AIS compared to normal values was assessed by one-sample Student’s T-test at the significance level of p = 0.05.

RESULTS: The gait analysis shows significant deviations in the gait stereotype of patients with AIS compared to the healthy population. Statistically significant differences within temporal-spatial parameters were confirmed for cadence, walking speed, step time, stride time for left leg, step length, stride length and step width. The mean GDI of the cohort reached the value of 91.07 that indicates a slight alteration of gait, however, even this change is statistically significant.

DISCUSSION: In our cohort of patients with AIS, we identified a significantly reduced walking speed (on average 15.4% compared to normal values. At the same time, a reduction in cadence (by an average of 7.5%) and an increase of the stride time (by an average of 12%) were recorded. Our mean GDI values were 91.07, which is consistent with the results reported in the literature for comparable groups of AIS patients.

CONCLUSIONS: Our study demonstrated that AIS significantly affects gait stereotype. The differences compared to the group of healthy individuals within temporal-spatial parameters were confirmed for cadence, walking speed, duration and length of step and stride, and step width. The kinematic analysis of gait using the global (GDI) index in patients with AIS demonstrated its slight alteration. A better understanding of the change in movement stereotypes and gait in patients with AIS can bring wider possibilities for individualizing conservative treatment and also can help prevent secondary changes in the locomotor system.

KEY WORDS: adolescent idiopathic scoliosis, AIS, gait analysis, Gait Deviation Index, GDI.

PMID:38963891 | DOI:10.55095/achot2024/022

Epigenetics. 2024 Dec;19(1):2370542. doi: 10.1080/15592294.2024.2370542. Epub 2024 Jul 4.

ABSTRACT

Although DNA methylation (DNAm) has been implicated in the pathogenesis of numerous complex diseases, from cancer to cardiovascular disease to autoimmune disease, the exact methylation sites that play key roles in these processes remain elusive. One strategy to identify putative causal CpG sites and enhance disease etiology understanding is to conduct methylome-wide association studies (MWASs), in which predicted DNA methylation that is associated with complex diseases can be identified. However, current MWAS models are primarily trained using the data from single studies, thereby limiting the methylation prediction accuracy and the power of subsequent association studies. Here, we introduce a new resource, MWAS Imputing Methylome Obliging Summary-level mQTLs and Associated LD matrices (MIMOSA), a set of models that substantially improve the prediction accuracy of DNA methylation and subsequent MWAS power through the use of a large summary-level mQTL dataset provided by the Genetics of DNA Methylation Consortium (GoDMC). Through the analyses of GWAS (genome-wide association study) summary statistics for 28 complex traits and diseases, we demonstrate that MIMOSA considerably increases the accuracy of DNA methylation prediction in whole blood, crafts fruitful prediction models for low heritability CpG sites, and determines markedly more CpG site-phenotype associations than preceding methods. Finally, we use MIMOSA to conduct a case study on high cholesterol, pinpointing 146 putatively causal CpG sites.

PMID:38963888 | DOI:10.1080/15592294.2024.2370542

J Glob Health. 2024 Jul 5;14:05017. doi: 10.7189/jogh.14.05017.

ABSTRACT

BACKGROUND: The implementation genomic-based surveillance on emerging severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants in low-income countries, which have inadequate molecular and sequencing capabilities and limited vaccine storage, represents a challenge for public health. To date, there is little evidence on molecular investigations of SARS-CoV-2 variants in areas where they might emerge. We report the findings of an experimental SARS-CoV-2 molecular surveillance programme for migrants, refugees, and asylum seekers arriving to Europe via Italy through the Mediterranean Sea.

METHODS: We descriptively analysed data on migrants collected at entry points in Sicily from February 2021 to May 2022. These entry points are integrated with a network of laboratories fully equipped for molecular analyses, which performed next-generation sequencing and used Nextclade and the Pangolin coronavirus disease 2019 (COVID-19) tools for clade/lineage assignment.

RESULTS: We obtained 472 full-length SARS-CoV-2 sequences and identified 12 unique clades belonging to 31 different lineages. The delta variant accounted for 43.6% of all genomes, followed by clades 21D (Eta) and 20A (25.4% and 11.4%, respectively). Notably, some of the identified lineages (A.23.1, A.27, and A.29) predicted their introduction into the migration area. The mutation analysis allowed us to identify 617 different amino acid substitutions, 156 amino acid deletions, 7 stop codons, and 6 amino acid insertions. Lastly, we highlighted the geographical distribution patterns of some mutational profiles occurring in the migrants’ countries of origin.

CONCLUSIONS: Genome-based molecular surveillance dedicated to migrant populations from low-resource areas may be useful for forecasting new epidemiological scenarios related to SARS-CoV-2 variants or other emerging pathogens, as well as for informing the updating of vaccination strategies.

PMID:38963881 | DOI:10.7189/jogh.14.05017

Science. 2024 Jul 5;385(6704):eadd8394. doi: 10.1126/science.add8394. Epub 2024 Jul 5.

ABSTRACT

Transcribed enhancer maps can reveal nuclear interactions underpinning each cell type and connect specific cell types to diseases. Using a 5′ single-cell RNA sequencing approach, we defined transcription start sites of enhancer RNAs and other classes of coding and noncoding RNAs in human CD4⁺ T cells, revealing cellular heterogeneity and differentiation trajectories. Integration of these datasets with single-cell chromatin profiles showed that active enhancers with bidirectional RNA transcription are highly cell type-specific and that disease heritability is strongly enriched in these enhancers. The resulting cell type-resolved multimodal atlas of bidirectionally transcribed enhancers, which we linked with promoters using fine-scale chromatin contact maps, enabled us to systematically interpret genetic variants associated with a range of immune-mediated diseases.

PMID:38963856 | DOI:10.1126/science.add8394

Aesthet Surg J. 2024 Jul 4:sjae145. doi: 10.1093/asj/sjae145. Online ahead of print.

ABSTRACT

BACKGROUND: Over the past decade, the use of poly-4-hydroxybutyrate (P4HB) in aesthetic breast surgery has grown in popularity. Published data on long-term outcomes, however, is scarce.

OBJECTIVES: The purpose of this study was to assess long-term outcomes when using P4HB in various aesthetic breast procedures.

METHODS: A retrospective review of all patients undergoing breast procedures with P4HB performed by the senior author (WPA) between July 2012 and March 2022. All patients with greater than one year of follow-up were evaluated, including demographics, surgical indications, complications, secondary procedures, and patient satisfaction. A Kruskal-Wallis test was performed to assess the stability of satisfaction over time.

RESULTS: A total of 248 patients were evaluated. The mean follow-up length was 2.9 years (range, 1-9.3y). The most common surgical indication was breast ptosis, which comprised 68 percent (n=167) of patients. The overall complication rate was 8.0 percent (n=20), with an unplanned reoperation rate of 2.8 percent (n=7). Across the entire study population, the mean satisfaction score was 3.42 out of 4. When satisfaction scores were compared to follow-up length, Kruskal-Wallis test demonstrated no statistical differences (H = 18.2, p = 0.89, df = 2), suggesting stability of satisfaction over time.

CONCLUSIONS: This study presents the senior author’s entire experience with P4HB across a wide range of aesthetic breast procedures. With an average follow-up length of almost 3 years, P4HB appears to be both a safe and effective tool to support soft tissue in aesthetic breast surgery. Further, high patient satisfaction appears stable.

PMID:38963821 | DOI:10.1093/asj/sjae145

Neuro Oncol. 2024 Jul 4:noae123. doi: 10.1093/neuonc/noae123. Online ahead of print.

ABSTRACT

BACKGROUND: Brain metastases (BM) are a devastating complication of HER2-positive metastatic breast cancer (BC) and treatment strategies providing optimized local and systemic disease control are urgently required. The antibody-drug conjugate (ADC) trastuzumab deruxtecan (T-DXd) improved progression-free survival (PFS) and overall survival (OS) over trastuzumab emtansine but data regarding intracranial activity is limited. In the primary outcome analysis of TUXEDO-1, a high intracranial response rate (RR) was reported with T-DXd. Here, we report final PFS and OS results.

PATIENTS AND METHODS: TUXEDO-1 accrued adult patients with HER2-positive BC and active BM (newly diagnosed or progressing) without indication for immediate local therapy. The primary endpoint was intracranial RR; secondary endpoints included PFS, OS, safety, quality-of-life (QoL), and neurocognitive function. PFS and OS were estimated with the Kaplan-Meier method and analysed in the per-protocol population.

RESULTS: At 26.5 months median follow-up, median PFS was 21 months (95% CI 13.3-n.r.) and median OS was not reached (95% CI 22.2-n.r.). With longer follow-up, no new safety signals were observed. The most common grade 3 adverse event was fatigue (20%). Grade 2 interstitial lung disease and a grade 3 symptomatic drop of left-ventricular ejection fraction were observed in one patient each. QoL was maintained over the treatment period.

DISCUSSION: T-DXd yielded prolonged intra- and extracranial disease control in patients with active HER2-positive BC BM in line with results from the pivotal trials. These results support the concept of ADCs as systemic therapy for active BM.

PMID:38963808 | DOI:10.1093/neuonc/noae123

Clin Exp Dermatol. 2024 Jul 4:llae252. doi: 10.1093/ced/llae252. Online ahead of print.

ABSTRACT

BACKGROUND: Tissue expression of endothelial cell (EC) markers of microcirculatory changes in CSU is poorly investigated.

OBJECTIVE: to explore the expression of specific EC markers (stem cell factor (SCF), vascular endothelial growth factor (VEGF) and membrane attack complex (MAC)) in CSU-L and CSU-NL skin through immunohistochemistry (IHC) and in serum.

METHODS: Lesional (L) and non-lesional (NL) skin biopsies from CSU patients and HCs were studied for the IHC expression of SCF, VEGF and MAC in CSU patients (n = 23) and healthy controls (HCs, n = 9). In this population, we also investigated blood levels of VEGF and SCF. Patients were also assessed for clinical characteristics, disease activity, and markers of autoimmune CSU (aiCSU).

RESULTS: Epidermal SCF reactivity was significantly higher in CSU-L skin compared to HC skin (p=0.026). In the dermis, SCF immunoreactivity was seen particularly on endothelial, perivascular and epithelial cells. In CSU-L skin, mean perivascular SCF stainings were significantly more intense compared to HCs (p<0.001). Furthermore, CSU-NL skin also showed significantly higher SCF stainings on dermal perivascular cells compared to HCs (p<0.001). CSU patients had the highest SCF immunoreactivity scores in the epidermis and/or on dermal ECs. These patients did not have significantly higher SCF serum levels.

CONCLUSION: This is the first study to show elevated cutaneous expression of SCF in chronic spontaneous urticaria. These findings underline the potential therapeutic possibilities of anti-KIT antibodies in CSU treatment.

PMID:38963799 | DOI:10.1093/ced/llae252