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1.
Anat Sci Int ; 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39088166

RESUMO

The lateral circumflex femoral artery (LCFA) is important for surgical approaches to the hip joint; its branches are often used as grafts and pedicled flaps. Our aim was to contribute to the literature by reporting variations. The LCFA branching pattern was studied in 26 lower limbs of formalin-fixed cadavers. It was recorded whether the LCFA originated from the femoral artery (FA) or the deep femoral artery (DFA). The distances of LCFA from the mid-inguinal point (MIP) and DFA; and the diameters of LCFA and its branches were measured with metric caliper. Side differences were analyzed by Wilcoxon test. The mean shortest distance from the LCFA to the MIP was 59.45 ± 13.06 mm and to the DFA was 19.23 ± 9.63 mm. The mean diameters of LCFA and its ascending, transverse, and descending branches were 5.82 ± 1.87 mm, 3.28 ± 0.87 mm, 3.02 ± 0.92 mm, and 3.61 ± 0.98 mm, respectively. The LCFA originated from 80.8% DFA and 19.2% FA. Data were evaluated jointly (p > 0.05). In one case, an accessory transverse branch was found. Spearman analysis shows that as the distance between the LCFA and the MIP increased, the diameter of the LCFA and its branches increased. Knowledge of the LCFA branching pattern is essential for interventional options in arterial grafts, such as bypass surgery, pedicled flaps, and surgical approaches to the hip joint. Preoperative radiologic evaluation for accurate knowledge of the topography of the branching pattern and vessel size can contribute to successful management of intraoperative blood loss and avoidance of iatrogenic injury.

2.
PeerJ ; 12: e17748, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39076774

RESUMO

Background: Tandem duplication (TD) is a common and important type of structural variation in the human genome. TDs have been shown to play an essential role in many diseases, including cancer. However, it is difficult to accurately detect TDs due to the uneven distribution of reads and the inherent complexity of next-generation sequencing (NGS) data. Methods: This article proposes a method called DTDHM (detection of tandem duplications based on hybrid methods), which utilizes NGS data to detect TDs in a single sample. DTDHM builds a pipeline that integrates read depth (RD), split read (SR), and paired-end mapping (PEM) signals. To solve the problem of uneven distribution of normal and abnormal samples, DTDHM uses the K-nearest neighbor (KNN) algorithm for multi-feature classification prediction. Then, the qualified split reads and discordant reads are extracted and analyzed to achieve accurate localization of variation sites. This article compares DTDHM with three other methods on 450 simulated datasets and five real datasets. Results: In 450 simulated data samples, DTDHM consistently maintained the highest F1-score. The average F1-score of DTDHM, SVIM, TARDIS, and TIDDIT were 80.0%, 56.2%, 43.4%, and 67.1%, respectively. The F1-score of DTDHM had a small variation range and its detection effect was the most stable and 1.2 times that of the suboptimal method. Most of the boundary biases of DTDHM fluctuated around 20 bp, and its boundary deviation detection ability was better than TARDIS and TIDDIT. In real data experiments, five real sequencing samples (NA19238, NA19239, NA19240, HG00266, and NA12891) were used to test DTDHM. The results showed that DTDHM had the highest overlap density score (ODS) and F1-score of the four methods. Conclusions: Compared with the other three methods, DTDHM achieved excellent results in terms of sensitivity, precision, F1-score, and boundary bias. These results indicate that DTDHM can be used as a reliable tool for detecting TDs from NGS data, especially in the case of low coverage depth and tumor purity samples.


Assuntos
Algoritmos , Sequenciamento de Nucleotídeos em Larga Escala , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Genoma Humano/genética , Sequências de Repetição em Tandem/genética
3.
Biodivers Data J ; 12: e125348, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38948133

RESUMO

Background: In the marine environment, knowledge of biodiversity remains incomplete for many taxa, requiring assessments to understand and monitor biodiversity loss. Environmental DNA (eDNA) metabarcoding is a powerful tool for monitoring marine biodiversity, as it enables several taxa to be characterised simultaneously in a single sample. However, the data generated by environmental DNA metabarcoding are often not easily reusable. Implementing FAIR principles and standards for eDNA-derived data can facilitate data-sharing within the scientific community. New information: This study focuses on the detection of marine vertebrate biodiversity using eDNA metabarcoding on the leeward coast of Guadeloupe, a known hotspot for marine biodiversity in the French West Indies. Occurrences and DNA-derived data are shared here using DarwinCore standards combined with MIMARKS standards.

4.
Ann Oncol ; 2024 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-38950679

RESUMO

BACKGROUND: PD-L1 tumor proportion score (TPS) and tumor mutational burden (TMB) are key predictive biomarkers for immune checkpoint inhibitors (ICI) efficacy in non-small cell lung cancer (NSCLC). Data on their variation across multiple samples are limited. METHODS: Patients with NSCLC and multiple PD-L1 TPS and/or TMB assessments were included. Clinicopathologic and genomic data were analyzed according to PD-L1 and TMB variation. RESULTS: In total, 402 PD-L1 sample pairs and 413 TMB sample pairs were included. Concordance between pairs was moderate for PD-L1 (ρ=0.53, P<0.0001) and high for TMB (ρ=0.80, P<0.0001). Shorter time between biopsies correlated with higher concordance in PD-L1, but not in TMB. Major increases (ΔTPS≥+50%) and decreases (ΔTPS≤-50%) in PD-L1 were observed in 9.7% and 8.0% of cases, respectively. PD-L1, but not TMB, decreased with intervening ICI (P=0.02). Acquired copy number loss of CD274, PDCD1LG2, and JAK2 were associated with major decrease in PD-L1 (q<0.05). Among patients with multiple PD-L1 assessments before ICI, cases where all samples had a PD-L1 ≥1%, compared to cases with at least one sample with PD-L1 <1% and another with PD-L1 ≥1%, achieved improved objective response rate and progression-free survival (PFS). Among patients with at least one PD-L1 <1% and one ≥1% before ICI, cases where the most proximal sample was PD-L1 ≥1% had longer median PFS compared to cases where the most proximal PD-L1 was <1%. Among patients with multiple TMB assessments before ICI, patients with a TMB ≥10 mut/Mb based on the most recent assessment, as compared to those with a TMB <10 mut/Mb, achieved improved PFS and OS to ICI; instead, no differences were observed when patients were categorized using the oldest TMB assessment. CONCLUSION: Despite intrapatient concordance in PD-L1 and TMB, variation in these biomarkers can influence ICI outcomes, warranting consideration for reassessment prior to ICI initiation when feasible.

5.
J Dent (Shiraz) ; 25(2): 178-182, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38962080

RESUMO

An in-depth understanding of the anatomical variations of maxillary molars is essential for endodontic success. Unlike the maxillary second molars, the presence of a second palatal root is uncommon in the first maxillary molar. This case report describes two cases of non-surgical management of maxillary molars with extra palatal roots. Careful clinical examination, knowledge of the internal anatomy, and the use of advanced radiographic modalities like cone beam computed tomography (CBCT) can reveal the presence of variations in the internal and external anatomy of any tooth. Therefore, for nonsurgical as well as surgical management clinicians should always watch out for any deviations in a tooth and utilize all the available tools to diagnose and manage them successfully.

6.
Behav Brain Res ; 471: 115134, 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38964168

RESUMO

INTRODUCTION: Despite the acknowledged impact of circadian rhythms on various aspects of life, behavioural tests with laboratory animals often overlook alignment with their natural activity patterns. This study aims to evaluate the influence of circadian variations on the results, validity, and reliability of different behavioural tests in rats. METHODS: Three behavioural tests, the Light-Dark Box Test (LDB), assessing anxiety-related behaviour and locomotor activity; the Buried Pellet Test (BPT), revealing olfactory abilities and motivation issues; and the Sucrose Preference Test (SPT), studying the anhedonic response, were employed to encompass multiple daytime-dependent behavioural aspects in male Sprague-Dawley rats. RESULTS: Our findings underscore distinct circadian effects on locomotor activity, exploratory behaviour, olfactory acuity, motivation, and hedonic response. Notably, anxious behaviour remained unaffected by daytime conditions. Furthermore, decreased data variance was found to be correlated with conducting behavioural tests during the subjects' active phase. DISCUSSION: This study demonstrates extensive circadian influences on nearly all parameters investigated, coupled with a significant reduction in data variability during the active phase. Emphasising the importance of aligning experimental timing with rats' natural activity patterns, our results suggest that conducting tests during the active phase of the animals not only refines test sensitivity , reduces stress, and provides more representative data, but also contributes to ethical animal research (3 R) and improves test relevance. This, in turn, enhances the reliability and validity of experimental outcomes in behavioural research and promotes animal welfare.

7.
Cureus ; 16(6): e61797, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38975446

RESUMO

Researchers have found that individuals with red hair often require higher doses of anesthetic medications to achieve the same level of pain relief or sedation compared to people with other hair colors. This review investigates the effects of local and systemic anesthetics in individuals with red hair compared to the general population. Focusing on both local and systemic anesthesia, this research aims to elucidate any distinctive responses or complications among the red-haired demographic. Utilizing a systematic review approach, we analyzed a wide array of previous research papers published over the last two decades to gather relevant data. Our findings suggest that people with red hair may exhibit variations in their response to both local and systemic anesthesia compared to non-red-haired individuals, indicating the necessity for tailored anesthetic approaches in clinical settings. Previous studies have found that individuals with red hair, as well as those with the corresponding melanocortin-1 receptor (MC1R) mutations, exhibit a greater resistance to the effects of systemic and local anesthetics. This review provides valuable insights that could help healthcare professionals optimize anesthetic management and improve patient outcomes, particularly for those with red hair.

8.
Food Nutr Bull ; 45(1_suppl): S23-S27, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38987874

RESUMO

BACKGROUND: Vitamin B12 deficiency is commonly diagnosed using thresholds developed for adults, yet emerging evidence indicates these levels may not be appropriate for children and adolescents. This misalignment can lead to underdiagnosis in younger populations, with potential long-term health implications. CASE SUMMARY: Chief Complaint: The 17-year-old female patient experienced severe fatigue, menstrual irregularities, psychological distress, and neurological symptoms over several years. The 13-year-old male patient had behavioral changes, gastrointestinal complaints, and sensory disturbances from an early age.Diagnosis: Both adolescents displayed B12 levels that were considered low-normal based on adult thresholds, complicating their diagnostic processes. Their diverse and atypical symptomatology required a comprehensive review of their medical and family histories, clinical symptoms, and risk factors.Intervention: Treatment included administration of hydroxocobalamin injections, complemented by dietary adjustments.Outcome: Both patients responded well to the treatment, showing significant improvements in their symptoms and overall quality of life. CONCLUSION: The main takeaway from these cases is the importance of tailoring diagnostic adequate thresholds and treatment plans to the pediatric population to address and manage B12 deficiency effectively. This approach can significantly enhance patient outcomes and prevent the progression of potentially severe complications in later life.


Plain language titleRevisiting Diagnostic Criteria for Vitamin B12 Deficiency in Children and Adolescents, a Case ReportPlain language summaryVitamin B12 deficiency is surprisingly common in kids and teenagers, but the problem is, only adult standards are available to diagnose it. Research shows that healthy children can have much different B12 levels than adults, meaning some kids with a deficiency might not get the help they need quickly. We share stories of 2 teenagers who suffered from B12 deficiency with very different symptoms, from extreme tiredness to mood changes and stomach issues. These cases show that diagnosing B12 deficiency can be difficult, especially with symptoms that don't fit the usual pattern. However, once they were properly diagnosed and treated adequate, these young people saw significant improvements in their health. These cases highlight the need for new standards tailored to children, to better identify and treat B12 deficiency early on, improving their quality of life.


Assuntos
Deficiência de Vitamina B 12 , Vitamina B 12 , Humanos , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico , Adolescente , Feminino , Masculino , Vitamina B 12/administração & dosagem , Vitamina B 12/sangue , Vitamina B 12/uso terapêutico , Hidroxocobalamina/uso terapêutico , Hidroxocobalamina/administração & dosagem , Qualidade de Vida
9.
Med Phys ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39012800

RESUMO

BACKGROUND: Delivery variations during radiotherapy can cause discrepancies between planned and delivered dose distribution. These variations could arise from random and systematic offsets in certain machine parameters or systematic offsets related to the calibration process of the treatment unit. PURPOSE: The aim of this study was to present a novel simulation-based methodology to evaluate realistic delivery variations in three dimensions (3D). Additionally, we investigated the dosimetric impact of delivery variations for volumetric modulated arc therapy (VMAT) plans for different treatment sites and complexities. METHODS: Twelve VMAT plans for different treatment sites (prostate-, head & neck-, lung-, and gynecological cancer) were selected. The clinical plan used for the treatment of each patient was reoptimized to create one plan with reduced complexity (i.e., simple plan) and one of higher complexity (i.e., complex plan). This resulted in a total of 36 plans. Delivery variations were simulated by randomly introducing offsets in multi-leaf collimator position, jaw position, gantry angle and collimator angle simultaneously. Twenty simulations were carried out for each of the 36 plans, yielding 720 simulated deliveries. To explore the impact of individual offsets, additional simulations were conducted for each type of offset separately. A 3D dose calculation was performed for each simulation using the same calculation engine as for the clinical plan. Two standard deviations (2SD) of dose were determined for every voxel for 3D-spatial evaluations. The dose variation in certain DVH metrics, that is, D2% and D98% for the clinical target volume and five different DVH metrics for selected organs at risk, was calculated for the twenty simulated deliveries of each plan. For comparison, the effect of delivery variations was assessed by conducting measurements with the Delta4 phantom. RESULTS: The volume of voxels with 2SD above 1% of the prescribed dose was consistently larger for the complex plans in comparison to their corresponding simple and clinical plans. 2SDs larger than 1% were in many cases, found to accumulate outside the planning target volume. For complex plans, regions with 2SDs larger than 1% were detected also inside the high dose region, exhibiting, on average, a size six times larger volume, than those observed in simple plans. Similar results were found for all treatment sites. Variation in the selected DVH metrics for the simulated deliveries was generally largest for the complex plans with few exceptions. When comparing the 2SD distribution of the measurements with the 2SD distribution from the simulations, the spatial information showed deviations outside the PTV in both simulations and measurements. However, the measured values were, on average, 35% higher for the prostate plans and 10% higher for the head & neck plans compared to the simulated values. CONCLUSIONS: The presented methodology effectively quantified and localized dose deviations due to delivery offsets. The 3D analysis provided information that was undetectable using the analysis based on DVH metrics. Dosimetric uncertainties due to delivery variations were prominent at the edge of the high-dose region irrespective of treatment site and plan complexity. Dosimetric uncertainties inside the high-dose region was more profound for plans of higher complexity.

10.
J Healthc Qual Res ; 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39013687

RESUMO

INTRODUCTION: Acute bronchiolitis is a common reason for admission to the pediatric emergency department. Evidence has shown that most interventions do not change the natural course of the disease. MATERIAL AND METHODS: This study aimed to evaluate the economic impact of the non-compliance with the acute bronchiolitis Portuguese national guideline. A retrospective study of pediatric emergency episodes of a Portuguese hospital that had a diagnosis of acute bronchiolitis during 2019, was conducted. RESULTS: The sample included 344 emergency episodes. Non-compliance with the guideline occurred in 71.8% of the episodes, mostly due to unjustified treatment. Following guideline in the studied hospital for one year would have resulted in an estimated overall 76.6% cost reduction, with a reduction in mean direct costs per patient of 14.93 €, corresponding to a medium saving of 3.89 € for each patient and a reduction of 11.03 € for the Portuguese National Health Service. Analyzing the unjustified mean direct costs, of these 2.97 € were related to inpatient diagnostic tests and therapeutic and the remaining 11.96 € were related to outpatient therapy. Mean direct costs imputed to the patient for outpatient treatment represented only 3.31 €, therefore most of mean direct costs is paid by the National Health Service. CONCLUSIONS: Compliance with guideline would allow the reduction of total estimated costs by about 76.6%, representing a waste of resources, without compromising the quality of care provided. Most of the cost associated with non-compliance with the guideline is justified by outpatient therapy, 67% of which was paid by the National Health Service.

11.
Cureus ; 16(6): e63092, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39055442

RESUMO

BACKGROUND: Comprehension of the intrucate anatomy and variations in the termination of the popliteal artery (PA) is increasingly essential for endovascular interventionists, plastic surgeons, vascular surgeons, and orthopedic surgeons, due to the rise in procedures like embolectomy, vascular grafting, free fibular flap surgery, and high-tibial osteotomy. Few studies from India have reported on the variant anatomy of PA termination, and none have used 128-slice tomography. This study aimed to observe the terminal branching pattern of the PA and the morphology of its terminal branches using 128-slice computed tomography angiography (CTA) and to analyze its relation to gender and laterality. METHODOLOGY: A retrospective review of CTA images of 181 lower extremities from 100 patients (137 males and 44 females), aged five to 75 years, was conducted. RESULTS: The usual type I-A pattern was found in 75.69% of cases, while 24.31% exhibited variant patterns. Type III was the most common variation observed (19.34%), with type III-A being the most prevalent (11.05%). Types II-B and II-C were not observed. Among 84 bilaterally examined cases, 19.05% had unilateral variations and 15.48% had bilateral variations, with 8.33% showing bilaterally similar variations and 7.14% dissimilar variations. No significant difference in branching patterns was found between genders or sides. The mean length of the tibial-peroneal trunk (TPT) in the type I-A pattern was 3.00 ± 0.99 cm (right side: 3.21 ± 1.02 cm; left side: 2.82 ± 0.93 cm; males: 2.9 ± 1.00 cm; females: 3.37 ± 0.85 cm), with statistically significant differences between sides and genders. In the type II-A pattern, the mean TPT length was 7.16 ± 3.75 cm. An exceptionally long TPT (12.97 cm) was noted in one case of the III-B pattern. CONCLUSION: There is a high prevalence of variation in the termination pattern of the PA. Knowledge of these variations is crucial for any interventions in this region to avoid postoperative vascular complications and reduce patient suffering.

12.
Vaccine ; : 126153, 2024 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-39060204

RESUMO

Vaccines and host genetic factors can influence the SARS-CoV-2 evolution and emergence of new variants. Even vaccinated cases get affected as virus continues to evolve, raising concerns about vaccine efficacy and the emergence of immune escape variants. Here, we have analyzed 2295 whole-genome sequences of SARS-CoV-2 collected from vaccinated and unvaccinated cases to evaluate the impact of vaccines on virus diversity within hosts. Our comparative analysis revealed a significant higher incidence of intra-host single nucleotides variants (iSNVs) in vaccinated cases compared to unvaccinated ones (p value<0.0001). Furthermore, we have found that specific mutational processes, including APOBEC (C > T) mediated and ADAR1 (A > G) mediated mutations, were found more prevalent in vaccinated cases. Vaccinated cases exhibited higher accumulation of nonsynonymous mutation than unvaccinated cases. Fixed iSNVs were predominantly located in the ORF1ab and spike genes, several key omicron defining immune escape variants S477N, Q493R, Q498R, Y505H, L452R, and N501Y were identified in the RBD domain of spike gene in vaccinated cases. Our findings suggest that vaccine plays an important role in the evolution of the virus genome. The virus genome acquires random mutations due to error-prone replication of the virus, host modification through APOBEC and ADAR1 mediated editing mechanism, and oxidative stress. These mutations become fixed in the viral population due to the selective pressure imposed by vaccination.

13.
Allergol Int ; 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39043490

RESUMO

In 2004, we started the initial attempt to evaluate the efficacy of SLIT for Japanese cedar pollinosis (JCP) using Japanese cedar (JC) pollen extract solution through a multicenter, placebo-controlled, double-blind comparative study. Based on its success in demonstrating the substantial efficacy of SLIT, we next conducted a larger-scale study by administering JC pollen to all JCP patients recruited. It was because of aiming to ascertain the effectiveness and safety of SLIT and its underlying mechanisms by comparing high- and non-responder patients. Despite limitations posed by liquid medication, significant effectiveness and safety demonstrated by the 2-year treatment served as the foundation for launching the first SLIT medicine for JCP, in 2014. Furthermore, in addition to the clearer Th1/Th2-imbalanced property in the high-responders, the possible involvement of bitter taste receptors in CD4+ T cells, apoptosis pathways in CD4+ T cells and basophils, and inducing a mast cell degranulation inhibitory molecule in the effect of SLIT was demonstrated. To solve the limitations posed by liquid medication, clinical trials evaluating JC pollen sublingual tablets started in 2014. Due to the minimal side effects, ease of administration, and convenient storage, the sublingual tablet medicine was launched in 2018. Giving the ongoing rise in demand for SLIT and considering that more than 1% of JCP patients are currently undergoing SLIT, the practical use of this treatment for multiple allergens is becoming increasingly important.

14.
Oral Health Prev Dent ; 22: 301-308, 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39028000

RESUMO

PURPOSE: To assess the prevalence and configuration of bifid (BMC) and trifid (TMC) mandibular canals using computed tomography (CT), describing the anatomical characteristics of the accessory canals, especially of the retromolar type. MATERIALS AND METHODS: CT scans of 123 patients were analysed. BMCs were identified and the patterns of bifurcation were classified, including trifid canals. The width of accessory canals was measured. Retromolar canals were further classified according to their course and morphology, while their position and width were evaluated using linear measurements on CT images. RESULTS: The majority of patients (53.6%) presented at least one BMC or TMC. 36.2% of mandibular canals were bifid, while 4.5% were trifid. The forward canals (12.6%) and retromolar canals (10.2%) were the most common among BMCs. In relation to the retromolar canals, 60% were vertical and 40% curved, with a mean width of 1.03 ± 0.28mm. CONCLUSION: BMCs and TMCs are common 3D radiographic findings, so that they should be considered as anatomical variations, not anomalies. Preoperative CT or CBCT evaluation should aid in identifying these variations and analysing their position and course in surgical planning.


Assuntos
Mandíbula , Tomografia Computadorizada por Raios X , Humanos , Mandíbula/diagnóstico por imagem , Mandíbula/anatomia & histologia , Masculino , Feminino , Adulto , Tomografia Computadorizada por Raios X/métodos , Pessoa de Meia-Idade , Prevalência , Idoso , Adolescente , Adulto Jovem , Variação Anatômica
15.
Cancer Biol Ther ; 25(1): 2382503, 2024 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-39039694

RESUMO

The relationship between the IL1B-511C>T (rs16944) polymorphism and the risk of developing hematologic malignancies remains controversial. Thus, we performed a meta-analysis to evaluate the association between IL1B-511C>T polymorphism and the risk of developing hematologic malignancies. A comprehensive search was conducted to identify all eligible studies on IL1B-511C>T polymorphism and hematologic malignancies. Twelve case-control studies, with 2,896 cases and 3,716 controls, were selected for the analysis. The overall data failed to indicate a significant association between IL1B-511C>T polymorphism and the risk of hematologic malignancies (OR:1.06, 95% Confidence Interval [CI]: 0.93-1.22). Moreover, non-significant associations were observed in a stratified analysis according to neoplasm type (multiple myeloma, Hodgkin's lymphoma, and non-Hodgkin's lymphoma), ethnicity (European and Asian), and Hardy-Weinberg equilibrium. In summary, our results suggest that there is no association between the IL1B-511C>T polymorphism and the risk of hematologic malignancies. As such, further large-scale studies are needed to confirm our findings.


Assuntos
Predisposição Genética para Doença , Neoplasias Hematológicas , Interleucina-1beta , Polimorfismo de Nucleotídeo Único , Humanos , Neoplasias Hematológicas/genética , Interleucina-1beta/genética , Estudos de Casos e Controles , Fatores de Risco
16.
Pediatr Blood Cancer ; 71(9): e31176, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38967585

RESUMO

INTRODUCTION: Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. Our aim was to identify prognostic genetic markers for patients with neuroblastoma, who were treated with the Taiwan Pediatric Oncology Group (TPOG) neuroblastoma N2002 protocol, to improve risk stratification and inform treatment. METHODS: Our analysis was based on 53 primary neuroblastoma specimens, diagnosed pre-chemotherapy, and 11 paired tumor relapse specimens. Deep sequencing of 113 target genes was performed using a custom panel. Multiplex ligation-dependent probe amplification was performed to identify clinical outcomes related to copy-number variations. RESULTS: We identified 128 variations associated with survival, with the number of variations being higher in the relapse than that in the diagnostic specimen (p = .03). The risk of event and mortality was higher among patients with a tumor mutational burden ≥10 than that in patients with a lower burden (p < .0001). Multivariate analysis identified tumor mutational burden, MYCN amplification, and chromosome 3p deletion as significant prognostic factors, independent of age at diagnosis, sex, and tumor stage. The 5-year event-free survival and overall survival rate was lower among patients with high tumor burden than in patients with low tumor burden. Furthermore, there was no survival of patients with an ALK F1147L variation at 5 years after diagnosis. CONCLUSIONS: Genome sequencing to determine the tumor mutational burden and ALK variations can improve the risk classification of neuroblastoma and inform treatment.


Assuntos
Mutação , Neuroblastoma , Humanos , Neuroblastoma/genética , Neuroblastoma/mortalidade , Neuroblastoma/patologia , Masculino , Feminino , Pré-Escolar , Lactente , Criança , Prognóstico , Biomarcadores Tumorais/genética , Taxa de Sobrevida , Seguimentos , Variações do Número de Cópias de DNA , Carga Tumoral , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Adolescente
17.
Microbiol Spectr ; : e0407523, 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38980023

RESUMO

Understanding changes in the distribution patterns and diversity of soil microbial communities from the perspectives of age-related changes, seasonal variations, and the interaction between the two factors can facilitate the management of plantations. In Chinese fir plantations, we collected soils from different depths in over-mature forests, mature forests, near-mature forests, middle-aged forests, and young forests in summer, autumn, and winter in China's subtropical regions. As the forests developed, bacterial and fungal communities' diversity changed, reached a minimum value at near-mature forests, and then increased in mature forests or over-mature forests. Near-mature forests had the lowest topological properties. The Shannon index of microbial communities varied with seasonal changes (P < 0.05). Bacterial and fungal community composition at genus level was more closely related to temperature indicators (including daily average temperature, daily maximum temperature, and daily minimum temperature) (P < 0.01, 0.5554 < R2 <0.8185) than daily average precipitation (P > 0.05, 0.0321 < R2 <0.6773). Bacteria were clustered by season and fungi were clustered by forest age. We suggested that extending the tree cultivation time of plantations could promote microbial community recovery. In addition, we found some species worthy of attention, including Bacteroidetes in autumn in over-mature forests, and Firmicutes in summer in young forests.IMPORTANCEChinese fir [Cunninghamia lanceolata (Lamb.) Hook] is an important fast-growing species with the largest artificial forest area in China, with the outstanding problems of low quality in soil. Soil microorganisms play a crucial role in soil fertility by decomposing organic matter, optimizing soil structure, and releasing essential nutrients for plant growth. In order to maintain healthy soil quality and prevent nutrient depletion and land degradation, it is crucial to understand the changes of soil microbial composition and diversity. Our study determined to reveal the change of soil microbial community from stand age, season, and the interaction between the two aspects, which is helpful to understand how interannual changes in different years and seasonal changes in one year affect soil fertility restoration and sustainable forest plantation management. It is a meaningful exploration of soil microbial communities and provides new information for further research.

18.
J Clin Med ; 13(13)2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38999255

RESUMO

Background: Variations in renal veins are quite common, and most people do not experience issues due to them. However, these variations are important for healthcare professionals, especially in surgical procedures and imaging studies, as precise knowledge of vascular anatomy is essential to avoid complications during medical interventions. The purpose of this study was to expose the frequency of anatomical variations in the renal vein (RV) and detail their relationship with the retroperitoneal and renal regions. Methods: A systematic search was conducted in the Medline, Scopus, Web of Science, Google Scholar, CINAHL, and LILACS databases from their inception until January 2024. Two authors independently carried out the search, study selection, and data extraction and assessed methodological quality using a quality assurance tool for anatomical studies (AQUA). Ultimately, consolidated prevalence was estimated using a random effects model. Results: In total, 91 studies meeting the eligibility criteria were identified. This study included 91 investigations with a total of 46,664 subjects; the meta-analysis encompassed 64 studies. The overall prevalence of multiple renal veins was 5%, with a confidence interval (CI) of 4% to 5%. The prevalence of the renal vein trajectory was 5%, with a CI of 4% to 5%. The prevalence of renal vein branching was 3%, with a CI of 0% to 6%. Lastly, the prevalence of unusual renal vein origin was 2%, with a CI of 1% to 4%. Conclusions: The analysis of these variants is crucial for both surgical clinical management and the treatment of patients with renal transplant and hemodialysis.

19.
Gigascience ; 132024 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-38991853

RESUMO

BACKGROUND: Lettuce, an important member of the Asteraceae family, is a globally cultivated cash vegetable crop. With a highly complex genome (∼2.5 Gb; 2n = 18) rich in repeat sequences, current lettuce reference genomes exhibit thousands of gaps, impeding a comprehensive understanding of the lettuce genome. FINDINGS: Here, we present a near-complete gapless reference genome for cutting lettuce with high transformability, using long-read PacBio HiFi and Nanopore sequencing data. In comparison to stem lettuce genome, we identify 127,681 structural variations (SVs, present in 0.41 Gb of sequence), reflecting the divergence of leafy and stem lettuce. Interestingly, these SVs are related to transposons and DNA methylation states. Furthermore, we identify 4,612 whole-genome triplication genes exhibiting high expression levels associated with low DNA methylation levels and high N6-methyladenosine RNA modifications. DNA methylation changes are also associated with activation of genes involved in callus formation. CONCLUSIONS: Our gapless lettuce genome assembly, an unprecedented achievement in the Asteraceae family, establishes a solid foundation for functional genomics, epigenomics, and crop breeding and sheds new light on understanding the complexity of gene regulation associated with the dynamics of DNA and RNA epigenetics in genome evolution.


Assuntos
Metilação de DNA , Epigênese Genética , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Lactuca , Lactuca/genética
20.
Genomics ; 116(5): 110894, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39019410

RESUMO

Technologies for detecting structural variation (SV) have advanced with the advent of long-read sequencing, which enables the validation of SV at a nucleotide level. Optical genome mapping (OGM), a technology based on physical mapping, can also provide comprehensive SVs analysis. We applied long-read whole genome sequencing (LRWGS) to accurately reconstruct breakpoint (BP) segments in a patient with complex chromosome 6q rearrangements that remained elusive by conventional karyotyping. Although all BPs were precisely identified by LRWGS, there were two possible ways to construct the BP segments in terms of their orders and orientations. Thus, we also used OGM analysis. Notably, OGM recognized entire inversions exceeding 500 kb in size, which LRWGS could not characterize. Consequently, here we successfully unveil the full genomic structure of this complex chromosomal 6q rearrangement and cryptic SVs through combined long-molecule genomic analyses, showcasing how LRWGS and OGM can complement each other in SV analysis.

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