Spatio-temporal trends of mercury levels in alluvial gold mining spoils areas monitored between rainy and dry seasons in the Peruvian Amazon.

Artisanal and small-scale gold mining (ASGM) in the Amazon has degraded tropical forests and escalated mercury (Hg) pollution, affecting biodiversity, ecological processes and rural livelihoods. In the Peruvian Amazon, ASGM annually releases some 181 tons of Hg into the environment. Despite some recent advances in understanding the spatial distribution of Hg within gold mine spoils and the surrounding landscape, temporal dynamics in Hg movement are not well understood. We aimed to reveal spatio-temporal trends of soil Hg in areas degraded by ASGM.,. We analyzed soil and sediment samples during the dry and rainy seasons across 14 ha of potentially contaminated sites and natural forests, in the vicinities of the Native community of San Jacinto in Madre de Dios, Peru. Soil Hg levels of areas impacted by ASGM (0.02 ± 0.02 mg kg-1) were generally below soil environmental quality standards (6.60 mg kg-1). However, they showed high variability, mainly explained by the type of natural cover vegetation, soil organic matter (SOM), clay and sand particles. Temporal trends in Hg levels in soils between seasons differed between landscape units distinguished in the mine spoils. During the rainy season, Hg levels decreased up to 45.5% in uncovered soils, while in artificial pond sediments Hg increased by up to 961%. During the dry season, uncovered degraded soils were more prone to lose Hg than sites covered by vegetation, mainly due to higher soil temperatures and concomitantly increasing volatilization. Soils from natural forests and degraded soil covered by regenerating vegetation showed a high capacity to retain Hg mainly due to the higher plant biomass, higher SOM, and increasing concentrations of clay particles. Disturbingly, our findings suggest high Hg mobility from gold mine spoil to close by sedimentary materials, mainly in artificial ponds through alluvial deposition and pluvial lixiviation. Thus, further research is needed on monitoring, and remediation of sediments in artificial to design sustainable land use strategies.

Analyzing the Clinical Potential of Stromal Vascular Fraction: A Comprehensive Literature Review.

Background: Regenerative medicine is evolving with discoveries like the stromal vascular fraction (SVF), a diverse cell group from adipose tissue with therapeutic promise. Originating from fat cell metabolism studies in the 1960s, SVF's versatility was recognized after demonstrating multipotency. Comprising of cells like pericytes, smooth muscle cells, and, notably, adipose-derived stem cells (ADSCs), SVF offers tissue regeneration and repair through the differentiation and secretion of growth factors. Its therapeutic efficacy is due to these cells' synergistic action, prompting extensive research. Methods: This review analyzed the relevant literature on SVF, covering its composition, action mechanisms, clinical applications, and future directions. An extensive literature search from January 2018 to June 2023 was conducted across databases like PubMed, Embase, etc., using specific keywords. Results: The systematic literature search yielded a total of 473 articles. Sixteen articles met the inclusion criteria and were included in the review. This rigorous methodology provides a framework for a thorough and systematic analysis of the existing literature on SVF, offering robust insights into the potential of this important cell population in regenerative medicine. Conclusions: Our review reveals the potential of SVF, a heterogeneous cell mixture, as a powerful tool in regenerative medicine. SVF has demonstrated therapeutic efficacy and safety across disciplines, improving pain, tissue regeneration, graft survival, and wound healing while exhibiting immunomodulatory and anti-inflammatory properties.

Stromal Vascular Fraction Therapy for Knee Osteoarthritis: A Systematic Review.

Background and Objectives: Knee osteoarthritis (OA) is a widespread joint disease, set to increase due to aging and rising obesity. Beyond cartilage degeneration, OA involves the entire joint, including the synovial fluid, bones, and surrounding muscles. Existing treatments, such as NSAIDs and corticosteroid injections, mainly alleviate symptoms but can have complications. Joint replacement surgeries are definitive but carry surgical risks and are not suitable for all. Stromal vascular fraction (SVF) therapy is a regenerative approach using cells from a patient's adipose tissue. SVF addresses as degenerative and inflammatory aspects, with potential for cartilage formation and tissue regeneration. Unlike traditional treatments, SVF may reverse OA changes. Being autologous, it reduces immunogenic risks. Materials and Methods: A systematic search was undertaken across PubMed, Medline, and Scopus for relevant studies published from 2017 to 2023. Keywords included "SVF", "Knee Osteoarthritis", and "Regenerative Medicine". Results: This systematic search yielded a total of 172 articles. After the removal of duplicates and an initial title and abstract screening, 94 full-text articles were assessed for eligibility. Of these, 22 studies met the inclusion criteria and were subsequently included in this review. Conclusions: This review of SVF therapy for knee OA suggests its potential therapeutic benefits. Most studies confirmed its safety and efficacy, and showed improved clinical outcomes and minimal adverse events. However, differences in study designs and sizes require a careful interpretation of the results. While evidence supports SVF's positive effects, understanding methodological limitations is key. Incorporating SVF is promising, but the approach should prioritize patient safety and rigorous research.

PomBase: a Global Core Biodata Resource-growth, collaboration, and sustainability.

PomBase (https://www.pombase.org), the model organism database (MOD) for fission yeast, was recently awarded Global Core Biodata Resource (GCBR) status by the Global Biodata Coalition (GBC; https://globalbiodata.org/) after a rigorous selection process. In this MOD review, we present PomBase's continuing growth and improvement over the last 2 years. We describe these improvements in the context of the qualitative GCBR indicators related to scientific quality, comprehensivity, accelerating science, user stories, and collaborations with other biodata resources. This review also showcases the depth of existing connections both within the biocuration ecosystem and between PomBase and its user community.

Clivus-Cervical Stabilization through Transoral Approach in Patients with Craniocervical Tumor: Three Cases and Surgical Technical Note.

Craniocervical tumors lead to cervical pain, instability, and neurological symptoms, reducing the quality of life. Effective surgical intervention at the craniocervical junction (CCJ) is critical and complex, involving comprehensive approaches and advanced reconstructive techniques. This study, conducted at Mexico City's National Institute of Cancerology, focused on three surgical cases that occurred in 2023 involving tumors at the CCJ: two chordomas and one prostate adenocarcinoma. We utilized a specialized technique: clivus-cervical stabilization reinforced with a polymethylmethacrylate (PMMA)-filled cervical mesh. Postoperatively, patients showed marked neurological recovery and reduced cervical pain, with enhanced Karnofsky and Eastern Cooperative Oncology Group (ECOG) scores indicating improved life quality. The surgical technique provided excellent exposure and effective tumor resection, utilizing PMMA-filled cervical mesh for stability. Tumoral lesions at the CCJ causing instability can be surgically treated through a transoral approach. This type of approach should be performed with precise indications to avoid complications associated with the procedure.

Comparative Analysis of Stromal Vascular Fraction and Alternative Mechanisms in Bone Fracture Stimulation to Bridge the Gap between Nature and Technological Advancement: A Systematic Review.

BACKGROUND: Various stimulation methods, including electrical, ultrasound, mechanical, and biological interventions, are explored, each leveraging intricate cellular and molecular dynamics to expedite healing. The advent of stromal vascular fraction (SVF) marks a significant stride, offering multifarious benefits in bone healing, from enhanced bone formation to optimal vascular integration, drawing a harmonious balance between innate mechanisms and scientific advancements. METHODS: This systematic review was conducted focusing on literature from 2016 to 2023 and encompassing various bone healing stimulation mechanisms like SVF, electrical, ultrasound, and mechanical stimulation. The extracted data underwent meticulous synthesis and analysis, emphasizing comparative evaluations of mechanisms, applications, and outcomes of each intervention. RESULTS: The reviewed studies reveal the potential of SVF in bone fracture healing, with its regenerative and anti-inflammatory effects. The purification of SVF is crucial for safe therapeutic use. Characterization involves flow cytometry and microscopy. Studies show SVF's efficacy in bone regeneration, versatility in various contexts, and potential for clinical use. SVF appears superior to electrical, ultrasound, and mechanical stimulation, with low complications. CONCLUSIONS: This review compares bone healing methods, including SVF. It provides valuable insights into SVF's potential for bone regeneration. However, due to limited human studies and potential bias, cautious interpretation is necessary. Further research is essential to validate these findings and determine the optimal SVF applications in bone healing.

Choosing T-cell sources determines CAR-T cell activity in neuroblastoma.

Introduction: The clinical success of chimeric antigen receptor-modified T cells (CAR-T cells) for hematological malignancies has not been reproduced for solid tumors, partly due to the lack of cancer-type specific antigens. In this work, we used a novel combinatorial approach consisting of a versatile anti-FITC CAR-T effector cells plus an FITC-conjugated neuroblastoma (NB)-targeting linker, an FITC-conjugated monoclonal antibody (Dinutuximab) that recognizes GD2. Methods: We compared cord blood (CB), and CD45RA-enriched peripheral blood leukapheresis product (45RA) as allogeneic sources of T cells, using peripheral blood (PB) as a control to choose the best condition for anti-FITC CAR-T production. Cells were manufactured under two cytokine conditions (IL-2 versus IL-7+IL-15+IL-21) with or without CD3/CD28 stimulation. Immune phenotype, vector copy number, and genomic integrity of the final products were determined for cell characterization and quality control assessment. Functionality and antitumor capacity of CB/45RA-derived anti-FITC CAR-T cells were analyzed in co-culture with different anti-GD2-FITC labeled NB cell lines. Results: The IL-7+IL-15+IL-21 cocktail, in addition to co-stimulation signals, resulted in a favorable cell proliferation rate and maintained less differentiated immune phenotypes in both CB and 45RA T cells. Therefore, it was used for CAR-T cell manufacturing and further characterization. CB and CD45RA-derived anti-FITC CAR-T cells cultured with IL-7+IL-15+IL-21 retained a predominantly naïve phenotype compared with controls. In the presence of the NB-FITC targeting, CD4+ CB-derived anti-FITC CAR-T cells showed the highest values of co-stimulatory receptors OX40 and 4-1BB, and CD8+ CAR-T cells exhibited high levels of PD-1 and 4-1BB and low levels of TIM3 and OX40, compared with CAR-T cells form the other sources studied. CB-derived anti-FITC CAR-T cells released the highest amounts of cytokines (IFN-γ and TNF-α) into co-culture supernatants. The viability of NB target cells decreased to 30% when co-cultured with CB-derived CAR-T cells during 48h. Conclusion: CB and 45RA-derived T cells may be used as allogeneic sources of T cells to produce CAR-T cells. Moreover, ex vivo culture with IL-7+IL-15+IL-21 could favor CAR-T products with a longer persistence in the host. Our strategy may complement the current use of Dinutuximab in treating NB through its combination with a targeted CAR-T cell approach.

Bipolar, high-voltage, long-duration pulsed radiofrequency ablation of the Gasserian ganglion for the treatment of trigeminal neuralgia in a patient with a cardiac implantable electronic device: illustrative case.

BACKGROUND: One of the common methods of treating trigeminal neuralgia (TN) nowadays is radiofrequency therapy. However, it has serious limitations in patients with a cardiac pacemaker because of electromagnetic interference. Therefore, it is crucial to select optimal radiofrequency ablation parameters to make this procedure safe with favorable outcomes for such patients. OBSERVATIONS: In this study, the authors present a case of a 70-year-old man with a history of cardiac pacemaker dependency and previous microvascular decompression with complaints of severe, constant facial pain. After reprogramming the cardiac implantable electronic device (CIED), the authors performed bipolar, high-voltage, long-duration pulsed radiofrequency therapy (PRFT) of the Gasserian ganglion under electrocardiography and pulse rate control in the pre-, intra-, and postoperative periods. There were no cardiovascular or neurological complications after PRFT. The patient reported relief of pain after the procedure, and at the 9-month follow-up, he was pain-free. LESSONS: This clinical case demonstrates that the use of bipolar, high-voltage PRFT for TN treatment in patients with a CIED can be safe and effective, provided that the rules and pacemaker instructions are followed. It is necessary to use ablative treatment with caution and to guide the patient in collaboration with a cardiac surgeon and an anesthesiologist resuscitator.

Population-Based Study on the Implementation of Flash Glucose Monitoring and Severe Hypoglycemia in Adults With Type 1 Diabetes.

Objective: We analyzed the effect of implementing a flash glucose monitoring (FGM) technology in a public health care system with universal coverage on the rate of severe hypoglycemia requiring urgent care in adults with type 1 diabetes mellitus (T1DM). Methods: Using a comprehensive regional dataset, we extracted emergency care codes with hypoglycemia in individuals with T1DM who initiated the use of FGM in Andalucia, Spain, from January 1, 2020, to December 31, 2021. Severe hypoglycemia was defined as a confirmed blood glucose <70 mg/dL, which required the urgent dispatch of an emergency medical service (EMS) for onsite management. We compared hypoglycemic events reported in the 12 months before and after the initiation of FGM to determine the population incidence rates. Results: A total of 13,616 participants with a mean age of 43.7 ± 13.5 years were included. The follow-up periods were 23.4 and 24.8 months before and after FGM. There were 969 and 737 cases of hypoglycemia before and after the initiation of FGM. The baseline incidence rate was 358.58 episodes per 10,000 person-years, which decreased to 260.9 at the end of the follow-up (rate-ratio 0.72 [0.66; 0.80]). The reduction in hypoglycemia was significant in individuals aged ≥60 years (rate-ratio 0.40 [0.28; 0.55]) and males (0.64 [0.56; 0.72]). In addition, there was a reduction in the overall median HbA1c of -0.35% (95% CI [-0.38; -0.33], P < 0.001). Conclusion: The implementation of FGM systems in a public health care system as a provision for adults with T1DM was associated with significant reductions in the rate of severe hypoglycemic events that required urgent EMS care.

Conservative Treatment in Avascular Necrosis of the Femoral Head: A Systematic Review.

INTRODUCTION: Avascular necrosis (AVN) of the femoral head is a pressing orthopedic issue, leading to bone tissue death due to disrupted blood supply and affecting the quality of life of individuals significantly. This review focuses on conservative treatments, evaluating their efficacy as mainstay therapies. Enhanced understanding of AVN's pathophysiology and advancements in diagnostic tools have rekindled interest in non-surgical interventions, emphasizing personalized, multidisciplinary approaches for improved outcomes. MATERIAL AND METHOD: A systematic search was conducted on PubMed, SCOPUS, and Google Scholar databases from January 2020 to August 2023, with the objective of focusing on conservative treatments for AVN of the femoral head. Eligible studies, including original research, case reports, and observational studies, were examined for relevant, well-documented patient outcomes post-conservative treatments, excluding non-English and surgically focused articles without comparative conservative data. RESULTS: A systematic search yielded 376 records on AVN of the femoral head across multiple databases. After de-duplication and rigorous screening for relevance and quality, 11 full-text articles were ultimately included for a comprehensive qualitative synthesis, focusing on conservatively managing the condition. CONCLUSIONS: This review evaluates the effectiveness of conservative treatments such as pharmacological interventions and physical modalities in managing AVN of the femoral head. Despite promising results in symptom alleviation and disease progression delay, variability in outcomes and methodological limitations in studies necessitate further rigorous, randomized controlled trials for a robust, patient-centric approach to optimize therapeutic outcomes in AVN management.

Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. / Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.

Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoB-related familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source. We here present the case of a 25-year-old woman with NCAH showing decreased levels of total-cholesterol, low-density lipoprotein cholesterol and triglycerides. Her parent had digestive symptoms and severe hepatic steatosis with elevated liver enzymes, as well as decreased levels of total and low-density lipoprotein cholesterol. A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.

What exercise programme is the most appropriate to mitigate anterior cruciate ligament injury risk in football (soccer) players? A systematic review and network meta-analysis.

OBJECTIVES: To examine the effectiveness of different exercise-based interventions to mitigate the risk of anterior cruciate ligament injury in football players, and to determine which is the most appropriate for them, specifically for female football players. DESIGN: Four databases were accessed in July 2023 using the keywords football, soccer, athletic injuries, anterior cruciate ligament, knee injuries, injury prevention, exercise-based programme, and risk factor. METHODS: Randomised controlled trials that evaluated any exercise-based injury prevention intervention compared with a control group on the prevention of anterior cruciate ligament injury in football players were included. RESULTS: Eleven studies were included. Data were presented as logarithm hazard ratio, credible intervals and standard deviation. FIFA 11+ was the most effective in reducing anterior cruciate ligament injury risk in football players (logarithm hazard ratio = -1.23 [95% credible intervals: -2.20, -0.35]; SD = 0.47), followed by the Knäkontroll programme (logarithm hazard ratio = -0.76 [95% credible intervals: -1.60, -0.03]; standard deviation = 0.42). For females, only Knäkontroll had a significant impact on reducing the risk of anterior cruciate ligament injury (logarithm hazard ratio = -0.62 [95% credible intervals: -1.71, 0.62]; standard deviation = 0.58). CONCLUSIONS: Our results support the use of FIFA 11+ and Knäkontroll to mitigate injury incidence at overall level. However, the effectiveness of these interventions changed when adjusting for females. Knäkontroll is postulated as the programme with the greatest preventive nature, although these results should be interpreted with caution due to the lack of the sample.

Advancing insights into recurrent lumbar disc herniation: A comparative analysis of surgical approaches and a new classification.

Background: The management of recurrent lumbar disc herniation (rLDH) lacks a consensus. Consequently, the choice between repeat microdiscectomy (MD) without fusion, discectomy with fusion, or endoscopic discectomy without fusion typically hinges on the surgeon's expertise. This study conducts a comparative analysis of postoperative outcomes among these three techniques and proposes a straightforward classification system for rLDH aimed at optimizing management. Patients and Methods: We examined the patients treated for rLDH at our institution. Based on the presence of facet resection, Modic-2 changes, and segmental instability, they patients were categorized into three groups: Types I, II, and III rLDH managed by repeat MD without fusion, MD with transforaminal lumbar interbody fusion (TLIF) (MD + TLIF), and transforaminal endoscopic discectomy (TFED), respectively. Results: A total of 127 patients were included: 52 underwent MD + TLIF, 50 underwent MD alone, and 25 underwent TFED. Recurrence rates were 20%, 12%, and 0% for MD alone, TFED, and MD + TLIF, respectively. A facetectomy exceeding 75% correlated with an 84.6% recurrence risk, while segmental instability correlated with a 100% recurrence rate. Modic-2 changes were identified in 86.7% and 100% of patients experiencing recurrence following MD and TFED, respectively. TFED exhibited the lowest risk of durotomy (4%), the shortest operative time (70.80 ± 16.5), the least blood loss (33.60 ± 8.1), and the most favorable Visual Analog Scale score, and Oswestry Disability Index quality of life assessment at 2 years. No statistically significant differences were observed in these parameters between MD alone and MD + TLIF. Based on this analysis, a novel classification system for recurrent disc herniation was proposed. Conclusion: In young patients without segmental instability, prior facetectomy, and Modic-2 changes, TFED was available should take precedence over repeat MD alone. However, for patients with segmental instability, MD + TLIF is recommended. The suggested classification system has the potential to enhance patient selection and overall outcomes.

The Vertebrobasilar Trunk and Its Anatomical Variants: A Microsurgical Anatomical Study.

BACKGROUND: The trunk of the basilar artery has not been included in microanatomy studies. Anatomical variants of the perforant branches of the vertebrobasilar trunk and their relationship with neural structures are very important in surgical approaches. Surgical dissection for the treatment of vascular lesions requires a perfect knowledge of the microsurgical anatomy. METHODS: We conducted a descriptive analysis of 50 brains, which were fixed with formalin at 10% for 2 weeks, and the arterial system was injected with colored latex. After microsurgical dissection, it was divided into three segments: the lower portion went from the anterior spinal artery to the anteroinferior cerebellar artery, the middle segment was raised from the upper limit of the lower portion to the origin of the superior cerebellar artery, and the upper segment ranged from the previous portion until the origin of the posterior cerebral artery. RESULTS: The basilar artery had an average length of 30 mm. The average diameter at its junction with the vertebral arteries was 4.05 mm. The average middle segment was 3.4 mm in diameter and 15.2 mm in length. The diameter of the upper segment was 4.2 mm, and its average length was 3.6 mm. The average number of bulbar arteries was three, and their average diameter was 0. 66 mm. The number of caudal perforator arteries were five on average, with a diameter of 0.32 mm. We found three rare cases of anatomical variants in the vertebra-basilar junction. CONCLUSIONS: The basilar artery emits penetrating branches in its lower, middle, and upper portions. The origin of penetrating branches was single or divided after forming a trunk. However, we observed long branches from perforant arteries.

The Role of Ventriculocisternostomy in the Management of Hydrocephalus in Mali and the Democratic Republic of the Congo.

BACKGROUND:  Hydrocephalus continues to pose significant clinical challenges in neurosurgery. The primary goal of this study is to assess the feasibility of ventriculocisternostomy (VCS) within the provincial city of Kinshasa and Mali to optimize the management of patients afflicted with hydrocephalus. METHODS:  This investigation was hosted at two major urban healthcare facilities: the Initiative Plus Hospital Center, positioned in the bustling metropolis of Kinshasa, Democratic Republic of the Congo (DRC), and the Bamako Hospital, Republic of Mali. A prospective, analytical cohort study was executed from December 2022 to June 2023. RESULTS: In the Mali group, seven patients underwent VCS, four patients were treated with VCS and spinal surgery, and one case was treated with VCS and biopsy. Similarly, in the Kinshasa group, 25 patients underwent VCS, whereas four patients were treated with VCS and spinal surgery. The median hospital stay was eight and 10 days for the Mali and the Kinshasa groups, respectively. CONCLUSION: VCS emerges as a formidable alternative for hydrocephalus management in Mali and DRC, showcasing the potential to markedly ameliorate patient outcomes, economize healthcare expenditures, and fortify the local neurosurgical capacity.

Intraoperative Ultrasound: An Old but Ever New Technology for a More Personalized Approach to Brain Tumor Surgery.

BACKGROUND: Although the use of transcranial ultrasound dates to the mid-20th century, the main purpose of this research work is to standardize its use in the resection of brain tumors. This is due to its wide availability, low cost, lack of contraindications, and absence of harmful effects for the patient and medical staff, along with the possibility of real-time verification of the complete resection of tumor lesions and minimization of vascular injuries or damage to adjacent structures. METHODS: A retrospective study was conducted from June to December 2022. The study included eight patients (three men and five women) aged between 32 and 76 years. Histological examination revealed two high-grade gliomas, one low-grade glioma, and five metastatic lesions. RESULTS: The low-grade glioma appeared as a homogeneously echogenic structure and easily distinguishable from brain parenchyma, whereas metastases and high-grade gliomas showed higher echogenicity, being identified as malignant lesions due to areas of low echogenicity necrosis and peritumoral edema identified as a hyperechogenic structure. CONCLUSIONS: The use of intraoperative transcranial ultrasound constitutes an important tool for neurosurgeons during tumor resection. Although it is easy to use, intraoperative ultrasound requires a relatively short learning curve and a good understanding of the fundamentals of ultrasound. Its main advantage over neuronavigation is that it is not affected by the "brain shift" phenomenon that commonly occurs during tumor resection, since the ultrasound images are updated during surgery.

Optical Genome Mapping as a New Tool to Overcome Conventional Cytogenetics Limitations in Patients with Bone Marrow Failure.

Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural variants (SVs) at high resolution, is being increasingly used in many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques to OGM in 20 patients with diverse BMFSs. Twenty metaphases for the karyotype were only obtained in three subjects (15%), and no SVs were found in any of the samples. One patient with culture failure showed a gain in chromosome 1q by fluorescence in situ hybridization, which was confirmed by OGM. In contrast, OGM provided good quality results in all subjects, and SVs were detected in 14 of them (70%), mostly corresponding to cryptic submicroscopic alterations not observed by standard techniques. Therefore, OGM emerges as a powerful tool that provides complete and evaluable results in hypocellular BMFSs, reducing multiple tests into a single assay and overcoming some of the main limitations of conventional techniques. Furthermore, in addition to confirming the abnormalities detected by conventional techniques, OGM found new alterations beyond their detection limits.

Surgical treatment of orbital tumors in a single center: Analysis and results.

Background: Orbital tumors, arising within the bony orbit and its contents, present diverse challenges due to their varied origins and complex anatomical context. These tumors, classified as primary, secondary, or metastatic, are further subdivided into intraconal and extraconal based on their relationship with the muscle cone. This classification significantly influences surgical approach and management. This study highlights surgical experiences with orbital tumors, underscoring the importance of tailored surgical approaches based on the lesion's site and its proximity to the optic nerve. Methods: This retrospective study at the National Institute of Cancer's Head and Neck Department (2005-2014) analyzed 29 patients with orbital tumors treated with surgery, radiotherapy, chemotherapy, or combinations of them. Patient demographics, tumor characteristics, and treatment responses were evaluated using computed tomography (CT), magnetic resonance imaging, and positron emission tomography-CT imaging. Malignant tumors often required orbital exenteration and reconstruction, highlighting the study's commitment to advancing orbital tumor treatment. Results: 29 patients (18 females and 11 males, age 18-88 years, mean 53.5 years) with orbital tumors exhibited symptoms such as decreased vision and exophthalmos. Tumors included primary lesions like choroidal melanoma and secondary types like epidermoid carcinoma. Treatments varied, involving a multidisciplinary team for surgical approaches like exenteration, with follow-up from 1 to 9 years. Radiotherapy and chemotherapy were used for specific cases. Conclusion: Our study underscores the need for a multidisciplinary approach in treating orbital tumors, involving various surgical specialists and advanced technologies like neuronavigation for tailored treatment. The integration of surgery with radiotherapy and chemotherapy highlights the effectiveness of multidimensional treatment strategies.

Role of the mesenchymal stromal cells in bone marrow failure of Fanconi Anemia patients.

Introduction: Fanconi anemia (FA) is an inherited disorder characterized by bone marrow failure, congenital malformations, and predisposition to malignancies. Alterations in hematopoietic stem cells (HSC) have been reported, but little is known regarding the bone marrow (BM) stroma. Thus, the characterization of Mesenchymal Stromal Cells (MSC) would help to elucidate their involvement in the BM failure. Methods: We characterized MSCs of 28 FA patients (FA-MSC) before and after treatment (hematopoietic stem cell transplantation, HSCT; or gene therapy, GT). Phenotypic and functional properties were analyzed and compared with MSCs expanded from 26 healthy donors (HD-MSCs). FA-MSCs were genetically characterized through, mitomycin C-test and chimerism analysis. Furthermore, RNA-seq profiling was used to identify dysregulated metabolic pathways. Results: Overall, FA-MSC had the same phenotypic and functional characteristics as HD-MSC. Of note, MSC-GT had a lower clonogenic efficiency. These findings were not confirmed in the whole FA patients' cohort. Transcriptomic profiling identified dysregulation in HSC self-maintenance pathways in FA-MSC (HOX), and was confirmed by real-time quantitative polymerase chain reaction (RT-qPCR). Discussion: Our study provides a comprehensive characterization of FA-MSCs, including for the first time MSC-GT and constitutes the largest series published to date. Interestingly, transcript profiling revealed dysregulation of metabolic pathways related to HSC self-maintenance. Taken together, our results or findings provide new insights into the pathophysiology of the disease, although whether these niche defects are involved in the hematopoietic defects seen of FA deserves further investigation.

Obesity and polycystic ovary syndrome influence on intestinal permeability at fasting, and modify the effect of diverse macronutrients on the gut barrier.

Women with the extremely prevalent polycystic ovary syndromegather multiple cardiovascular risk factors and chronic subclinical inflammation. Interactions between diet, adiposity, and gut microbiota modulate intestinal permeabilityand bacterial product translocation, and may contribute to the chronic inflammation process associated with the polycystic ovary syndrome. In the present study, we aimed to address the effects of obesity, functional hyperandrogenism, and diverse oral macronutrients on intestinal permeabilityby measuring circulating markers of gut barrier dysfunction and endotoxemia. Participants included 17 non-hyperandrogenic control women, 17 women with polycystic ovary syndrome, and 19 men that were submitted to glucose, lipid, and protein oral loads. Lipopolysaccharide-binding protein, plasma soluble CD14, succinate, zonulin family peptide, and glucagon-like peptide-2 were determined at fasting and after oral challenges. Macronutrient challenges induced diverse changes on circulating intestinal permeabilitybiomarkers in the acute postprancial period, with lipids and proteins showing the most unfavorable and favorable effects, respectively. Particularly, lipopolysaccharide-binding protein, zonulin family peptide, and glucagon-like peptide-2 responses were deregulated by the presence of obesity after glucose and lipid challenges. Obese subjects showed higher fasting intestinal permeabilitybiomarkers levels than non-obese individuals, except for plasma soluble CD14. The polycystic ovary syndromeexacerbated the effect of obesity further increasing fasting glucagon-like peptide-2, lipopolysaccharide-binding protein, and succinate concentrations. We observed specific interactions of the polycystic ovary syndromewith obesity in the postprandial response of succinate, zonulin family peptide, and glucagon-like peptide-2. In summary, obesity and polycystic ovary syndromemodify the effect of diverse macronutrients on the gut barrier, and alsoinfluence intestinal permeabilityat fasting,contributing to the morbidity of functional hyperandrogenism by inducing endotoxemia and subclinical chronic inflammation.