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1.
Urol Oncol ; 2024 May 28.
Article in English | MEDLINE | ID: mdl-38806388

ABSTRACT

INTRODUCTION: Lymph node (LN) status is one of the main prognostic factors in localized prostate cancer (CaP) patients after surgery. Examining palpable lymph nodes with hematoxylin and eosin (HE) is the most common approach in clinical practice; however, immunohistochemistry (IHC) has been reported to increase the LN detection rate. We reviewed the oncological results of patients with LN metastasis detected by IHC. METHODS: Retrospective study of CaP patients who underwent lymphadenectomy at the time of the prostatectomy. Extended lymphadenectomy was performed with complementary indocyanine green (ICG) guidance. Three groups were considered according to LN status. Definition of the pN+ group was made if LNs were detected by HE, occulted lymph node-positive (OLN+) was considered when ≥ 1 LN was identified with IHC and occulted lymph node-negative (OLN-) if no metastatic nodes were found. Oncological outcomes were reported regarding PSA kinetics, biochemical recurrence (BCR), need for secondary treatments and metastasis-free survival (MFS). RESULTS: A total of 283 patients with a median follow-up of 69 months were included in the study. Immunohistochemical assessment revealed metastatic LNs in 8.9% of patients. The rate of locally advanced disease and positive surgical margins was higher in the OLN + and pN + groups vs the OLN - group (P < 0.05). At the end of follow-up, 19%, 44% and 52% of patients from the OLN -, OLN + and pN + groups experienced BCR (P < 0.001), respectively. Additionally, 2.6%, 17% and 22% of patients developed metastatic progression from the OLN -, OLN + and pN+ group (P < 0.001), respectively. In the multivariate analysis, the OLN + group had a higher risk HR: 12 (95% CI, 2.4-56; P = 0.002) of metastatic progression in comparison with OLN - patients. This difference was not observed in the risk of biochemical recurrence HR 1.8 (95% CI, 0.9-3.8; P = 0.09). CONCLUSION: Conventional HE histological analysis underdiagnosed nearly 10% of patients. IHC-detected patients were at higher risk of metastasis development than OLN - patients. This report highlights the importance of optimizing the anatomopathological analysis properly.

2.
J Clin Rheumatol ; 2024 May 29.
Article in English | MEDLINE | ID: mdl-38809130

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA) is a chronic disease that affects different areas of the patient's body. Patient education and health literacy is essential for them to participate actively in follow-up. OBJECTIVES: The aim of this study was to assess differences between clinimetric measurements done by a medical team and patient-reported outcome measures (PROMs) in RA and understand the impact of patient education strategies in order to identify differences between RA assessment methods. METHODS: This is a longitudinal cohort study. It included adult patients with RA and access to digital tools. These were divided into 3 groups by type of education. Group 1 included patients who participated in a multicomponent RA educational program. Group 2 did not have this multicomponent RA education. Group 3 did not receive any education. The 3 groups performed PROMs. Disease activity scales, functional class, and quality of life were measured. Univariate and bivariate analysis (χ2 and Wilcoxon for paired data) were done. RESULTS: Twenty-eight patients were included in group 1, 26 in group 2, and 37 in group 3. All were women. In group 1, there were no significant differences in clinimetrics between the medical team and patient's PROMs except for fatigue. In group 2 and group 3, significant differences were found. The RAPID3 and PAS variables did not show significant differences when analyzed by intervention subgroups. CONCLUSIONS: This study shows no differences between clinimetrics/PROMs for patients with a high-level education on RA and physicians. On the other hand, when patient did not have any RA education, the clinimetric results differed from physician measurement.

3.
Intensive Crit Care Nurs ; 83: 103690, 2024 Apr 09.
Article in English | MEDLINE | ID: mdl-38598942

ABSTRACT

OBJECTIVES: To determine the intention to use physical restraint (PR) and the relationship with sociodemographic and professional variables of the Paediatric Intensive Care Unit (PICU) nurses. RESEARCH METHODOLOGY/DESIGN AND SETTING: A multicentre and correlational study was carried out from October 2021 to December 2023 in five paediatric intensive care units from five maternal and child hospitals in Spain. The Paediatric Physical Restraint-Theory of Planned Behaviour Questionnaire was provided. Moreover, sociodemographic and employment variables were registered. RESULTS: A total of 230 paediatric nurses participated in the study. A total of 87.7 % were females with an average age of 35.5 ± 9.7 years and working experience of 10.5 ± 8.4 years. The mean scores obtained were 21.1 ± 3.8 for attitude, 13.1 ± 5.0 for subjective norms, 14.4 ± 4.3 for perceived behavioural control and 28.0 ± 6.0 for intention. The nurses apply more physical restraint to anxious patients, with scarce analgesics and sedation, those affected with pharmacological withdrawal symptoms and those with a high risk of accidental removal of vital support devices or fall from bed. The sex (p = 0.007) and type of employment contract (p = 0.01) are the variables that are significantly correlated with the intention to use of PR. CONCLUSION: The paediatric nurses analysed had a moderate attitude, social pressure and perceived behavioural control towards the use of PR. IMPLICATIONS FOR CLINICAL PRACTICE: It is important to know the factors that influence the intention to use physical restraint in order to standardise safe practice for critically ill paediatric and to ensure that patients' rights are respected by obtaining informed consent and assessing the prescription, continuation and removal of physical restraint.

4.
Arch Esp Urol ; 77(2): 129-134, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38583004

ABSTRACT

BACKGROUND: Evidence regarding the relationship between the laterality of lymph node invasion (LNI) and the prostatic lobe affected is limited. Our aim was to review our records of patients with exclusively unilateral localised prostate cancer (PCa) with metastatic LN involvement. METHODS: Between 2006 and 2023, after radical prostatectomy and extended pelvic lymphadenectomy at our centre, thirty patients with intermediate-high risk unilateral PCa and pN1 disease were identified. To perform a retrospective study, data were obtained from a prospective collected database approved by the ethical committee at the Valencian Oncology Institute Foundation. Descriptive and comparative statistical analysis was made using software R. The Fisher's Exact test was employed to analyse the categorical variables. In terms of continuous variables, both tumour volume and number of nodes retrieved exhibited normality; Hence Student's T-test was employed. Mann-Whitney U test was utilized for the number of positive nodes. RESULTS: The median age and prostate specific antigen (PSA) at diagnosis were 66 years old (interquartile range (IQR): 63.3-70.9) and 14.6 ng/mL (IQR: 7.4-21.5), respectively. Median follow-up time was 67 months (IQR: 35.9-92.9). Nineteen patients (63%) had a Gleason score of 7, and the rest had a Gleason score of 8-10. Most patients (73%) had locally advanced disease. Baseline characteristics were comparable between groups (p-value > 0.05). Twenty-two patients (73%) had concordance between the laterality of the PCa lesion and the LNI. All the patients with right prostatic cancer had exclusive ipsilateral LNI. CONCLUSIONS: In our experience, the majority of patients with unilateral PCa had exclusively ipsilateral LNI. However, sparing contralateral LN dissection in unilateral PCa should not be an option. To date, extended pelvic LN dissection remains the gold standard for N-staging and cannot be replaced yet by unilateral pelvic LN dissection until high quality evidence supports this scenario.


Subject(s)
Lymph Node Excision , Prostatic Neoplasms , Male , Humans , Aged , Retrospective Studies , Prospective Studies , Lymphatic Metastasis , Prostatic Neoplasms/diagnosis , Prostatectomy
5.
Article in English | MEDLINE | ID: mdl-38501696

ABSTRACT

Alcohol consumption has profound effects on behavior, such as impaired judgment, addiction or even death. It is estimated that alcohol contributes to around three million deaths worldwide, 13.5% of them in young people with ages between 20 and 39 years. Consequently, it is necessary to raise awareness among college and high school students of the risk related to alcohol drinking. The small nematode Caenorhabditis elegans is an animal widely used as a model organism to study nearly all aspects of Biochemistry. It is a powerful tool to test the potential bioactivity and molecular mechanisms of natural compounds and drugs in vivo. Therefore, it is an interesting topic to include in an undergraduate course of Biotechnology, Biochemistry or Biology students among other scientific vocations. C. elegans is also used as a neurobiological model to evaluate substances´ neurotoxicity and behavioral effects. The proposed experiment introduces students to the handling of this preclinical model and to the evaluation of behavioral alterations induced by chemicals in scientific research. The effects of different doses of ethanol on C. elegans behavior are studied using a versatile chemotaxis assay. This laboratory experiment is suitable for an undergraduate course. The practical session can be used in the global strategies of information and awareness of educational centres to mitigate the impact of alcohol abuse among students, both in formal courses or in Science fairs or exhibitions.

6.
Nurs Crit Care ; 2024 Mar 26.
Article in English | MEDLINE | ID: mdl-38531666

ABSTRACT

OBJECTIVE: To create and test psychometrically a paediatric version of the Physical Restraint-Theory of Planned Behaviour Questionnaire to assess paediatric critical care nurses' intention to use physical restraint. DESIGN: A psychometric study. SETTING: Five medical-surgical Paeditric Intensive care Units from five hospitals in Spain. METHODS: The study took place in three phases. In phase 1, the questionnaire was adapted. In phase 2, the content validity of each item was determined, and a pilot test was conducted. In phase 3, we administered the questionnaire and determined its psychometric properties. RESULTS: The assessment of the intention to use physical restraint was extended to all critical paediatric patients, two items were eliminated from the initial questionnaire, four new items were included, and the clinical scenarios of the intention subscale were expanded from three to six. Overall content validity index for the full instrument of 0.96 out of 1. The Paediatric Physical Restraint-Theory of Planned Behaviour Questionnaire is made up of four subscales (attitude, subjective norms (SN), perceived behavioural control (PBC), and intention) subdivided into 7 factors and 51 items. The internal consistency for the attitude subscale obtained a Cronbach's Alpha of 0.80 to 0.73, for the SN it was 0.72 to 0.89, for the PBC it was from 0.80 to 0.73 and for the intention subscale it was 0.75. CONCLUSIONS: The Paediatric Physical Restraint-Theory of Planned Behaviour Questionnaire is an instrument composed of seven factors and 51 items that validly and reliably assesses the intention of paediatric nurses to apply PR in PICUs. RELEVANCE FOR CLINICAL PRACTICE: Having this instrument will help health centres move towards restraint-free care by allowing managers to assess professionals' attitudes, beliefs, and intentions around the use of PR in PICUs.

7.
J Med Chem ; 67(10): 7891-7910, 2024 May 23.
Article in English | MEDLINE | ID: mdl-38451016

ABSTRACT

A series of rhenium(I) complexes of the type fac-[Re(CO)3(N^N)L]0/+, Re1-Re9, was synthesized, where N^N = benzimidazole-derived bidentate ligand with an ester functionality and L = chloride or pyridine-type ligand. The new compounds demonstrated potent activity toward ovarian A2780 cancer cells. The most active complexes, Re7-Re9, incorporating 4-NMe2py, exhibited remarkable activity in 3D HeLa spheroids. The emission in the red region of Re9, which contains an electron-deficient benzothiazole moiety, allowed its operability as a bioimaging tool for in vitro and in vivo visualization. Re9 effectivity was tested in two different C. elegans tumoral strains, JK1466 and MT2124, to broaden the oncogenic pathways studied. The results showed that Re9 was able to reduce the tumor growth in both strains by increasing the ROS production inside the cells. Moreover, the selectivity of the compound toward cancerous cells was remarkable as it did not affect neither the development nor the progeny of the nematodes.


Subject(s)
Antineoplastic Agents , Caenorhabditis elegans , Coordination Complexes , Rhenium , Animals , Caenorhabditis elegans/drug effects , Rhenium/chemistry , Humans , Antineoplastic Agents/pharmacology , Antineoplastic Agents/chemistry , Antineoplastic Agents/chemical synthesis , Antineoplastic Agents/therapeutic use , Coordination Complexes/pharmacology , Coordination Complexes/chemistry , Coordination Complexes/chemical synthesis , Coordination Complexes/therapeutic use , Reactive Oxygen Species/metabolism , Cell Line, Tumor , Theranostic Nanomedicine , Drug Screening Assays, Antitumor , Cell Proliferation/drug effects
8.
Arch. esp. urol. (Ed. impr.) ; 77(2): 129-134, mar. 2024. ilus, tab
Article in English | IBECS | ID: ibc-231933

ABSTRACT

Background: Evidence regarding the relationship between the laterality of lymph node invasion (LNI) and the prostatic lobe affected is limited. Our aim was to review our records of patients with exclusively unilateral localised prostate cancer (PCa) with metastatic LN involvement. Methods: Between 2006 and 2023, after radical prostatectomy and extended pelvic lymphadenectomy at our centre, thirty patients with intermediate-high risk unilateral PCa and pN1 disease were identified. To perform a retrospective study, data were obtained from a prospective collected database approved by the ethical committee at the Valencian Oncology Institute Foundation. Descriptive and comparative statistical analysis was made using software R. The Fisher’s Exact test was employed to analyse the categorical variables. In terms of continuous variables, both tumour volume and number of nodes retrieved exhibited normality; Hence Student’s T-test was employed. Mann-Whitney U test was utilized for the number of positive nodes. Results: The median age and prostate specific antigen (PSA) at diagnosis were 66 years old (interquartile range (IQR): 63.3–70.9) and 14.6 ng/mL (IQR: 7.4–21.5), respectively. Median follow-up time was 67 months (IQR: 35.9–92.9). Nineteen patients (63%) had a Gleason score of 7, and the rest had a Gleason score of 8–10. Most patients (73%) had locally advanced disease. Baseline characteristics were comparable between groups (p-value > 0.05). Twenty-two patients (73%) had concordance between the laterality of the PCa lesion and the LNI. All the patients with right prostatic cancer had exclusive ipsilateral LNI. Conclusions: In our experience, the majority of patients with unilateral PCa had exclusively ipsilateral LNI. However, sparing contralateral LN dissection in unilateral PCa should not be an option... (AU)


Subject(s)
Humans , Prostatic Neoplasms , Lymph Node Excision , Lymph Nodes , Retrospective Studies
9.
Prostate Int ; 12(1): 20-26, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38523897

ABSTRACT

Background: Metastatic hormone-sensitive prostate cancer (mHSPC) treatment has changed drastically during the last years with the emergence of androgen receptor-targeted agents (ARTAs). ARTA combined with androgen deprivation therapy has demonstrated better oncological and survival outcomes in these patients. However, the optimal choice among different ARTAs remains uncertain due to their analogous efficacy. Objectives: The objective of this study was to describe prostate-specific antigen (PSA) response and oncological outcomes of patients with mHSPC treated with apalutamide. Material and methods: Medical records from three different hospitals in Spain were used to conduct this study. Patients diagnosed with mHSPC and under apalutamide treatment were included between March 2021 and January 2023. Data regarding PSA response, overall survival (OS), and radiographic progression-free survival (rPFS) were collected and stratified by metastasis volume, timing, and stating. Results: 193 patients were included; 34.2% of patients were de novo mHSPC, and the majority was classified as m1b. The 18-month OS and rPFS were 92.5% and 88.9%, respectively. Patients with PSA levels ≤0.2 ng/ml showcased an 18-month OS rate of 98.7%, contrasting with 65.3% for those with PSA >0.2 ng/ml. Similar trends emerged for rPFS (97.4% and 53.7%, respectively). When differentiating between low-volume and high-volume metastasis, the OS rate stood at 98.4% and 80.7%, respectively, while the rPFS rates were 93% and 81.6%, respectively. No significant differences were found between groups stratified by metastasis timing. Conclusion: This real-world study on patients with mHSPC treated with apalutamide plus androgen deprivation therapy revealed robust oncological outcomes, aligning with the emerging evidence. The study's hallmark finding highlights the significance of rapid and deep PSA response as a predictor of improved oncological and survival outcomes.

10.
BMC Med Ethics ; 25(1): 16, 2024 02 09.
Article in English | MEDLINE | ID: mdl-38336668

ABSTRACT

BACKGROUND: The COVID-19 pandemic has influenced the approach to the health-disease system, raising the question about the principles of bioethics present in physician-patient relations. The principles while widely accepted may not be sufficient for a comprehensive ethical analysis. Therefore, the aim of this study was to explore the perception of these principles and the physician-patient relationship during a hospital stay through a qualitative approach. METHOD: Sixteen semi-structured interviews took place to know the patients' perception during their 2020 hospitalization for COVID-19. The data was analyzed through the constant comparison method, creating categories and comparing them. In the end, seven categories were established and were grouped in three: bioethical principles (dignity, charity, vulnerability, autonomy), doctor-patient relationship (participant commitment, informed consent, health staff-patient relationship) and the experience of the disease (illness, the role of the family). RESULTS: The research found that most patients described a positive experience, with the feeling of having been well cared for with no sense of discrimination or injustice done. The majority also reported that their autonomy was respected in the treatment decisions. The evaluation of these attitudes is an area of opportunity, especially when the patients' vulnerability is at risk. CONCLUSIONS: The ethics of virtue offers a better reflection of how human beings manifest themselves by emphasizing the development of virtuous character and behaviors that allow them to realize their values in life. Authorized by the Research Ethics Committee with registration: DI/18/105-B/3/308.


Subject(s)
Bioethics , COVID-19 , Physicians , Humans , Physician-Patient Relations , Pandemics
12.
JMIR Mhealth Uhealth ; 12: e49302, 2024 Jan 08.
Article in English | MEDLINE | ID: mdl-38190226

ABSTRACT

BACKGROUND: The World Health Organization has called for addressing the growing burden of noncommunicable diseases (NCDs) by promoting healthy lifestyles among the population. Regarding patient health, primary care professionals (PCPs) are the first line of care who can positively influence patients' behavior and lifestyle habits. However, a significant percentage of PCPs do not lead a healthy lifestyle. Therefore, addressing their health behaviors may be the key to substantially increasing health promotion advice in general practice. The Mediterranean diet has been extensively studied, and there is strong evidence of it being a dietary pattern for the prevention of NCDs, in addition to its significant environmental, sociocultural, and local economics benefits. OBJECTIVE: This study focused only on the dietary aspect of the PCPs' lifestyle. The primary objective was to evaluate the effect of using the Electronic 12-Hour Dietary Recall (e-12HR) smartphone app to improve diet, specifically to promote adherence to the Mediterranean diet (AMD), among PCPs. The secondary objectives were to establish the usability of the e-12HR app and to determine AMD among PCPs. METHODS: An individual-level randomized, controlled, and single-blind clinical trial was conducted with 2 parallel groups: a control group (CG), using the nonfeedback version of the e-12HR app, and an intervention group (IG), using the feedback version of the e-12HR app. The level of human involvement was fully automated through the use of the app. There was a 28-day follow-up period. Participants were PCPs (medicine or nursing) recruited offline at one of the selected primary care centers (Andalusia, Spain, Southern Europe), of both sexes, over 18 years old, possessing a smartphone, and having smartphone literacy. RESULTS: The study response rate was 73% (71 of 97 PCPs), with 27 (38%) women and 44 (62%) men: 40 (56%) PCPs in the CG and 31 (44%) in the IG. At baseline, AMD was medium (mean Mediterranean Diet Serving Score [MDSS] index 9.45, range 0-24), with 47 (66%) PCPs with a medium/high MDSS index. There were significant statistical improvements (CG vs IG, in favor of the IG) at week 4 (no significant statistical differences at baseline): +25.6% for the MDSS index (P=.002) and +213.1% for the percentage with a medium/high MDSS index (P=.001). In relation to specific food groups, there were significant statistical improvements for fruits (+33.8%, P=.02), vegetables (+352%, P=.001), nuts (+184%, P=.02), and legumes (+75.1%, P=.03). The responses to the usability rating questionnaire were satisfactory. CONCLUSIONS: The results support recommending the use of the e-12HR app as a tool to contribute to improving diet and preventing NCDs among PCPs, while positively influencing patient dietary behavior and preventing diet-related NCDs among patients. TRIAL REGISTRATION: ClinicalTrials.gov NCT05532137; https://clinicaltrials.gov/study/NCT05532137.


Subject(s)
Diet, Mediterranean , Mobile Applications , Female , Humans , Male , Electronics , Health Promotion , Primary Health Care , Single-Blind Method
13.
J Biol Chem ; 300(1): 105549, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38072064

ABSTRACT

G protein-coupled receptors (GPCRs) are leading druggable targets for several medicines, but many GPCRs are still untapped for their therapeutic potential due to poor understanding of specific signaling properties. The complement C3a receptor 1 (C3aR1) has been extensively studied for its physiological role in C3a-mediated anaphylaxis/inflammation, and in TLQP-21-mediated lipolysis, but direct evidence for the functional relevance of the C3a and TLQP-21 ligands and signal transduction mechanisms are still limited. In addition, C3aR1 G protein coupling specificity is still unclear, and whether endogenous ligands, or drug-like compounds, show ligand-mediated biased agonism is unknown. Here, we demonstrate that C3aR1 couples preferentially to Gi/o/z proteins and can recruit ß-arrestins to cause internalization. Furthermore, we showed that in comparison to C3a63-77, TLQP-21 exhibits a preference toward Gi/o-mediated signaling compared to ß-arrestin recruitment and internalization. We also show that the purported antagonist SB290157 is a very potent C3aR1 agonist, where antagonism of ligand-stimulated C3aR1 calcium flux is caused by potent ß-arrestin-mediated internalization. Finally, ligand-mediated signaling bias impacted cell function as demonstrated by the regulation of calcium influx, lipolysis in adipocytes, phagocytosis in microglia, and degranulation in mast cells. Overall, we characterize C3aR1 as a Gi/o/z-coupled receptor and demonstrate the functional relevance of ligand-mediated signaling bias in key cellular models. Due to C3aR1 and its endogenous ligands being implicated in inflammatory and metabolic diseases, these results are of relevance toward future C3aR1 drug discovery.


Subject(s)
Calcium , Complement C3a , beta-Arrestin 1/metabolism , beta-Arrestins/metabolism , Calcium/metabolism , Complement C3a/metabolism , Ligands , Receptors, G-Protein-Coupled/metabolism , Humans , Animals , Mice , Cell Line
14.
Nature ; 626(7997): 58-65, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38056497

ABSTRACT

Suppressing errors is the central challenge for useful quantum computing1, requiring quantum error correction (QEC)2-6 for large-scale processing. However, the overhead in the realization of error-corrected 'logical' qubits, in which information is encoded across many physical qubits for redundancy2-4, poses substantial challenges to large-scale logical quantum computing. Here we report the realization of a programmable quantum processor based on encoded logical qubits operating with up to 280 physical qubits. Using logical-level control and a zoned architecture in reconfigurable neutral-atom arrays7, our system combines high two-qubit gate fidelities8, arbitrary connectivity7,9, as well as fully programmable single-qubit rotations and mid-circuit readout10-15. Operating this logical processor with various types of encoding, we demonstrate improvement of a two-qubit logic gate by scaling surface-code6 distance from d = 3 to d = 7, preparation of colour-code qubits with break-even fidelities5, fault-tolerant creation of logical Greenberger-Horne-Zeilinger (GHZ) states and feedforward entanglement teleportation, as well as operation of 40 colour-code qubits. Finally, using 3D [[8,3,2]] code blocks16,17, we realize computationally complex sampling circuits18 with up to 48 logical qubits entangled with hypercube connectivity19 with 228 logical two-qubit gates and 48 logical CCZ gates20. We find that this logical encoding substantially improves algorithmic performance with error detection, outperforming physical-qubit fidelities at both cross-entropy benchmarking and quantum simulations of fast scrambling21,22. These results herald the advent of early error-corrected quantum computation and chart a path towards large-scale logical processors.

15.
J Thromb Haemost ; 22(3): 851-859, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38007062

ABSTRACT

BACKGROUND: Genetic diagnosis of inherited platelet disorders (IPDs) is mainly performed by high-throughput sequencing (HTS). These short-read-based sequencing methods sometimes fail to characterize the genetics of the disease. OBJECTIVES: To evaluate nanopore long-read DNA sequencing for characterization of structural variants (SVs) in patients with IPDs. METHODS: Four patients with a clinical and laboratory diagnosis of Glanzmann thrombasthenia (GT) (P1 and P2) and Hermansky-Pudlak syndrome (HPS) (P3 and P4) in whom HTS missed the underlying molecular cause were included. DNA was analyzed by both standard HTS and nanopore sequencing on a MinION device (Oxford Nanopore Technologies) after enrichment of DNA spanning regions covering GT and HPS genes. RESULTS: In patients with GT, HTS identified only 1 heterozygous ITGB3 splice variant c.2301+1G>C in P2. In patients with HPS, a homozygous deletion in HPS5 was suspected in P3, and 2 heterozygous HPS3 variants, c.2464C>T (p.Arg822∗) and a deletion affecting 2 exons, were reported in P4. Nanopore sequencing revealed a complex SV affecting exons 2 to 6 in ITGB3 (deletion-inversion-duplication) in homozygosity in P1 and compound heterozygosity with the splice variant in P2. In the 2 patients with HPS, nanopore defined the length of the SVs, which were characterized at nucleotide resolution. This allowed the identification of repetitive Alu elements at the breakpoints and the design of specific polymerase chain reactions for family screening. CONCLUSION: The nanopore technology overcomes the limitations of standard short-read sequencing techniques in SV characterization. Using nanopore, we characterized novel defects in ITGB3, HPS5, and HPS3, highlighting the utility of long-read sequencing as an additional diagnostic tool in IPDs.


Subject(s)
Hermanski-Pudlak Syndrome , Thrombasthenia , Humans , Homozygote , Sequence Deletion , Hermanski-Pudlak Syndrome/genetics , Sequence Analysis, DNA , Thrombasthenia/genetics , High-Throughput Nucleotide Sequencing , DNA
16.
POCUS J ; 8(2): 153-158, 2023.
Article in English | MEDLINE | ID: mdl-38099155

ABSTRACT

Despite its many cited benefits, ultrasound guidance for neuraxial procedures is not widespread in anesthesiology. Some cited limitations include device cost and accessibility. We test the hypothesis that a handheld and relatively inexpensive ultrasound can improve neuraxial proficiency (e.g., decreased needle manipulations and block time). This prospective study compared the number of needle passes, redirections, and procedural time between epidural placed with a handheld ultrasound versus landmarks. Needle passes and attempts were defined as the number of times the Tuhoy needle was redirected, and the times skin was punctured (re-insertion). Procedural time was defined as the time from local anesthetic infiltration until loss of resistance was obtained. The impact of level of training and accuracy of the device were also analyzed. 302 patients receiving labor epidural were included in the study. No difference in body mass index (BMI) nor distribution of level of training was noted between the groups. Regression analysis adjusted for BMI demonstrated a decrease in needle passes (-1.75 (95% CI -2.62, -0.89), p < 0.001), needle attempts (-0.51 (95% CI -0.97, -0.04), p = 0.032) and procedural time (-154.67s 95% CI -303.49s, -5.85s), p = 0.042) when a handheld ultrasound was utilized. The mean (95% Confidence interval) difference between needle depth and ultrasound depth was 0.39 cm (0.32, 0.46), p < 0.001. The use of a handheld device resulted in statistically significant decrease of needle manipulations and block time. More research is needed to evaluate the impact of and increase in accessibility of ultrasound technology.

17.
Environ Monit Assess ; 195(12): 1480, 2023 Nov 16.
Article in English | MEDLINE | ID: mdl-37968519

ABSTRACT

Besides direct mortality, wind farms also affect aerial fauna by modifying their communities, reducing species diversity and richness through disturbance. During three consecutive years, we used mist nets and acoustic recorders, and conducted carcass searches, to characterize the assemblage of bat species and to estimate bat mortality at two nearby wind farms sited <5 km apart in a highly biodiverse region. We asked whether the diversity, richness and evenness of the assemblages varied yearly, predicting it would decrease through time. Richness and evenness did not change, but the diversity of species recorded acoustically, 96% being aerial insectivores, was significantly lower the third year. We estimate 4 - 15.7 fatalities/MW/year by wind farm, with 63% of species found as carcasses being aerial insectivores. We found >40% of dissimilarity in the species composition of bat assemblages between wind farms despite the short distance between them, with species turnover accounting for more than half of the dissimilarity every year. Similarly, species turnover accounted for >15% of the dissimilarity in the composition of the assemblage of live bats (captured and recorded acoustically) and the assemblage obtained through carcass searches. Our findings suggest that nearby wind farms impact bat communities differentially and aerial insectivores disproportionally. Long term, multi-method surveys are needed to characterize bat communities in highly diverse regions and to evaluate the post-construction effects that wind farms have on them.


Subject(s)
Chiroptera , Animals , Energy-Generating Resources , Environmental Monitoring , Wind , Farms
18.
Front Plant Sci ; 14: 1251442, 2023.
Article in English | MEDLINE | ID: mdl-37780510

ABSTRACT

Water scarcity is a serious constraint for agriculture, and global warming and climate change can exacerbate it in many areas. Therefore, sustainable approaches must be implemented to deal with current and future water scarcity scenarios. Genetic and chemical approaches are being applied to manage this limitation and maintain crop yields. In particular, biostimulants obtained from natural sources such as marine algae are promising aids for coping with water deficit stress in agriculture. Here we present a bioprospection study of extracts of the macroalgae Bonnemaisonia hamifera, Galaxaura rugosa, Dasycladus vermicularis, Ulva clathrata, Cystoseira foeniculacea, Cystoseira humilis, Lobophora dagamae, Colpomenia sinuosa and Halopteris scoparia from the north coast of Tenerife, in the Canary Islands. The aqueous extracts of Bonnemaisonia hamifera, Galaxaura rugosa, Dasycladus vermicularis and Cystoseira humilis show biostimulant activity against water deficit stress in tomato seedlings under controlled conditions, providing higher tolerance than the mock-treated control. The Galaxaura rugosa extract showed the highest biostimulant activity against water deficit stress. We demonstrate that this positive effect involves the activation of the abscisic acid (ABA) pathway in Arabidopsis thaliana (arabidopsis) and Solanum lycopersicum (tomato). Application of G. rugosa extract to the root system by drenching tomato seedlings subjected to water deficit leads to improved CO2 assimilation and water use efficiency (WUEp), compared to mock-treated plants. These results highlight a new potential seaweed source of substances with osmoprotectant properties, useful for biostimulant development. Future studies may provide further insight into which components of the seaweed extract induce activation of the ABA pathway.

19.
Polymers (Basel) ; 15(20)2023 Oct 21.
Article in English | MEDLINE | ID: mdl-37896421

ABSTRACT

Composites of polyurethane and graphite and polyurethane and carbon nanofibers (PU/Graphite 0.5% and PU/CNF 1%) were synthesized and used as anodes in dual-compartment microbial fuel cells (MFCs) for municipal wastewater treatment; electrical energy generation and organic matter removal were assessed. The maximum power density, coulombic efficiency and chemical oxygen demand (COD) removal efficiency in the MFCs packed with the PU/Graphite 0.5% and PU/CNF 1% composites were 232.32 mW/m3 and 90.78 mW/m3, 5.87 and 4.41%, and 51.38 and 68.62%, respectively. In addition, the internal resistance of the MFCs with the best bioelectrochemical performance (PU/Graphite 0.5%) was 1051.11 Ω. The results obtained in this study demonstrate the feasibility of using these types of materials in dual-compartment MFCs for wastewater treatment with electric power generation.

20.
Commun Biol ; 6(1): 1034, 2023 10 12.
Article in English | MEDLINE | ID: mdl-37828050

ABSTRACT

Mapping 3D plasma membrane topology in live cells can bring unprecedented insights into cell biology. Widefield-based super-resolution methods such as 3D-structured illumination microscopy (3D-SIM) can achieve twice the axial ( ~ 300 nm) and lateral ( ~ 100 nm) resolution of widefield microscopy in real time in live cells. However, twice-resolution enhancement cannot sufficiently visualize nanoscale fine structures of the plasma membrane. Axial interferometry methods including fluorescence light interference contrast microscopy and its derivatives (e.g., scanning angle interference microscopy) can determine nanoscale axial locations of proteins on and near the plasma membrane. Thus, by combining super-resolution lateral imaging of 2D-SIM with axial interferometry, we developed multi-angle-crossing structured illumination microscopy (MAxSIM) to generate multiple incident angles by fast, optoelectronic creation of diffraction patterns. Axial localization accuracy can be enhanced by placing cells on a bottom glass substrate, locating a custom height-controlled mirror (HCM) at a fixed axial position above the glass substrate, and optimizing the height reconstruction algorithm for noisy experimental data. The HCM also enables imaging of both the apical and basal surfaces of a cell. MAxSIM with HCM offers high-fidelity nanoscale 3D topological mapping of cell plasma membranes with near-real-time ( ~ 0.5 Hz) imaging of live cells and 3D single-molecule tracking.


Subject(s)
Algorithms , Lighting , Microscopy, Fluorescence/methods , Microscopy, Interference , Interferometry
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