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1.
Pak J Med Sci ; 40(8): 1719-1723, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39281235

RESUMEN

Objectives: This study aimed to investigate the effect of Environmental Pollutants Particulate Matter PM2.5, PM10, Carbon Monoxide (CO), Nitrogen Dioxide (NO2), Sulfur Dioxide (SO2), and Ozone (O3) on lung airway inflammation by assessing the Fractional Exhaled Nitric Oxide (FeNO) in students studying in schools located in or away from air-polluted areas. Methods: This matched case-control cross-sectional study was conducted in the Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia from August 2022 to July 2023. In this study, two schools were selected, one was located near a traffic-polluted area (School #1), and the second was located away from the traffic-polluted area (School #2). A total of 300 students were recruited, 150 (75 male and 75 female) students from the school located in a traffic-polluted area, and 150 students (75 male and 75 female) from the school located away from a traffic-polluted area. Environmental pollutants PM2.5, PM10, CO, NO2, O3, and SO2, were recorded. The Fractional Exhaled Nitric Oxide (FeNO) was measured using a Niox Mino. Results: The mean concentration of PM2.5, PM10, CO, NO2, O3, and SO2 were 35.00±0.65 significantly higher in a school located in motor vehicle polluted area compared to a school located away from a motor vehicle-polluted area (29.95±0.32) (p=0.001). The mean values for FeNO were significantly higher (18.75±0.90) among students studying in a school located in the motor vehicle-polluted area compared to students studying in a school located away from the motor vehicle-polluted area (11.26±0.56) (p=0.001). Conclusions: Environmental pollution can cause lung inflammation among students in schools located in traffic-polluted areas.

2.
J Health Organ Manag ; ahead-of-print(ahead-of-print)2024 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-39300711

RESUMEN

PURPOSE: This study aims to identify and assess the factors challenging the integration of artificial intelligence (AI) technologies in healthcare workplaces. DESIGN/METHODOLOGY/APPROACH: The study utilized a mixed approach, that starts with a literature review, then developing and testing a questionnaire survey of the factors challenging the integration of AI technologies in healthcare workplaces. In total, 46 factors were identified and classified under 6 groups. These factors were assessed by four different stakeholder categories: facilities managers, medical staff, operational staff and patients/visitors. The evaluations gathered were examined to determine the relative importance index (RII), importance rating (IR) and ranking of each factor. FINDINGS: All 46 factors were assessed as "Very Important" through the overall assessment by the four stakeholder categories. The results indicated that the most important factors, across all groups, are "AI ability to learn from patient data", "insufficient data privacy measures for patients", "availability of technical support and maintenance services", "physicians' acceptance of AI in healthcare", "reliability and uptime of AI systems" and "ability to reduce medical errors". PRACTICAL IMPLICATIONS: Determining the importance ratings of the factors can lead to better resource allocation and the development of strategies to facilitate the adoption and implementation of these technologies, thus promoting the development of innovative solutions to improve healthcare practices. ORIGINALITY/VALUE: This study contributes to the body of knowledge in the domain of technology adoption and implementation in the medical workplace, through improving stakeholders' comprehension of the factors challenging the integration of AI technologies.


Asunto(s)
Inteligencia Artificial , Lugar de Trabajo , Humanos , Encuestas y Cuestionarios , Participación de los Interesados , Masculino , Femenino
5.
Artículo en Inglés | MEDLINE | ID: mdl-39134710

RESUMEN

The therapeutic efficacy of donor lymphocyte infusions (DLIs) given after allogeneic hematopoietic cell transplantation (HCT) is limited by risk of graft-versus-host disease (GVHD). Post-transplantation cyclophosphamide (PTCy) effectively prevents severe GVHD, but there are limited data on outcomes of DLIs given to PTCy-treated patients. We reviewed 162 consecutive PTCy-treated patients transplanted between 2015-2022 within the Center for Immuno-Oncology at the National Cancer Institute. Of 38 DLIs given to 21 patients after 22 HCTs, few DLIs were associated with toxicities of acute GVHD (7.8%), cytokine release syndrome (CRS, 7.8%), or chronic GVHD (2.6%), and all occurred in those receiving serotherapy-containing pre-HCT conditioning (50% of HCTs). Seven DLIs resulted in complete response (18.4%), with 5 of these given after HCTs using serotherapy-containing conditioning. Excluding infectious indications, complete response to DLIs given after transplants with versus without serotherapy-containing pre-HCT conditioning were 30% and 4.3%, respectively. Two patients received DLI for infection and experienced complete resolution without GVHD or CRS, although the efficacy cannot be definitively attributable to the DLI. DLIs given to PTCy-treated patients had low toxicity but limited efficacy, although pre-HCT serotherapy may modulate both toxicity and response. Novel strategies are needed to enhance the therapeutic efficacy of post-transplant cellular therapies without aggravating GVHD.

6.
Vascular ; : 17085381241279142, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39214135

RESUMEN

OBJECTIVES: Limited knowledge exists regarding access site complication rates between trans-axillary and trans-brachial approaches with sheath sizes ≥6Fr. We retrospectively reviewed our institution experience with access site complications for percutaneous trans-axillary and trans-brachial arterial interventions using sheath sizes ranging from 6Fr to 10Fr. METHODS: We examined 67 endovascular interventions performed over 18 months, restricted to sheath sizes of 6Fr to 10Fr. Procedures utilizing trans-brachial (41 cases) and trans-axillary (26 cases) approaches under sonographic guidance were included. Cases involving hemodialysis accesses and those requiring surgical cut-down were excluded. The primary outcome measure was the occurrence of major access site complications (SIR grade-II/III) within 30 days, with data collected on hemostasis method, sheath size, and complications. Statistical analysis involved ANCOVA and Fisher's exact tests, with significance set at p < .05. RESULTS: Successful percutaneous arterial access was achieved in all cases using either approach (trans-axillary or trans-brachial). Closure devices were employed in all axillary punctures and in 71% of brachial punctures. Major access site complications occurred in 7 out of 41 cases (17%) in the trans-brachial group and in 4 out of 26 cases (15%) in the trans-axillary group. However, there was no statistically significant difference in complication rates between the two groups, regardless of access site or sheath size. CONCLUSION: Trans-axillary access serves as a safe and effective upper limb access method for percutaneous endovascular procedures requiring sheath size of 7Fr or larger when compared to trans-brachial approach.

7.
Sensors (Basel) ; 24(14)2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-39065833

RESUMEN

Lack of physical activity (PA) at a young age can result in health issues. Thus, monitoring PA is important. Wearable accelerometers are the preferred tool to monitor PA in children. Validated thresholds are used to classify activity intensity levels, e.g., sedentary, light, and moderate-to-vigorous, in ambulatory children. No previous work has developed accelerometer thresholds for infancy (pre-ambulatory children). Therefore, this work aims to develop accelerometer thresholds for PA intensity levels in pre-ambulatory infants. Infants (n = 10) were placed in a supine position and allowed free movement. Their movements were synchronously captured using video cameras and accelerometers worn on each ankle. The video data were labeled by activity intensity level (sedentary, light, and moderate-to-vigorous) in two-second epochs using observational rating (gold standard). Accelerometer thresholds were developed for acceleration and jerk using two optimization approaches. Four sets of thresholds were developed for dual (two ankles) and for single-worn (one ankle) accelerometers. Of these, for a typical use case, we recommend using acceleration-based thresholds of 1.00 m/s to distinguish sedentary and light activity and 2.60 m/s to distinguish light and moderate-to-vigorous activity. Acceleration and jerk are both suitable for measuring PA.


Asunto(s)
Acelerometría , Ejercicio Físico , Humanos , Acelerometría/instrumentación , Acelerometría/métodos , Lactante , Ejercicio Físico/fisiología , Masculino , Femenino , Dispositivos Electrónicos Vestibles
8.
JSES Int ; 8(4): 915-920, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39035674

RESUMEN

Background: Classification systems are only useful if there is agreement among observers. The purpose of this study is to introduce a simple and clinically applicable classification system - The Copenhagen Classification System for Distal Humeral Fractures (CCDHF) and to compare the interobserver and intraobserver agreement for this classification with the Arbeitsgemeinschaft für Osteosynthesefragen/Orthopedic Trauma Association (AO/OTA), and the Sheffield classification systems. The primary objective of the new classification system is to distinguish fractures that may not be suitable for open reduction and internal fixation, necessitating treatment options such as elbow hemiarthroplasty or total elbow arthroplasty (TEA). Methods: Five consultant elbow surgeons assessed a consecutive series of 105 sets X-rays of distal humeral fractures on 2 occasions with at least 10 weeks interval. All X-rays were classified according to AO/OTA, Sheffield, and the CCDHF systems. The CCDHF system has been developed collaboratively by a panel of five experienced elbow surgeons. Based on consensus, the surgeons identified specific fracture characteristics where elbow hemiarthroplasty or TEA might be needed. Results: The mean interobserver agreement was fair for AO/OTA and moderate for Sheffield and the CCDHF. The mean intraobserver agreement was moderate for AO/OTA and substantial for Sheffield and the CCDHF. The observers were uncertain about the classification in 29% of the cases with the AO/OTA classification, 15% with the Sheffield classification, and 12% with CCDHF. Conclusion: The CCDHF demonstrated validity and clinical applicability and can assist surgeons in identifying fractures that may require hemiarthroplasty or TEA treatment.

9.
Neurogenetics ; 2024 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-39066872

RESUMEN

ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum. Whole exome sequencing revealed a homozygous missense variant in the nucleotide binding domain of ATP8A2 (p.Leu538Pro) that results in near complete loss of protein expression. This is in line with other missense variants in the same domain leading to protein misfolding and loss of ATPase function. In addition, by performing diffusion-weighted imaging, we identified bilateral hyperintensities in the posterior limbs of the internal capsule suggesting possible microstructural changes in axon tracts that had not been appreciated before and could contribute to the sensorimotor deficits in these individuals.

10.
Ann Clin Lab Sci ; 54(3): 388-393, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-39048159

RESUMEN

OBJECTIVE: We validated an automated microfluidic interleukin-6 (IL-6) immunoassay on the Ella platform for clinical use. METHODS: The assay was validated for precision, lower limit of quantification, analytical measurement range, accuracy, specificity, interference of biotin, tocilizumab, GP130, IL-6Rα, hemolysis, icterus, and lipemia, and establishing the reference value. The clinical performance was evaluated in 96 COVID-19 patients. RESULTS: The within-run and between-run coefficient of variations (CV) ranged 1.8%-4.8%. This assay has an analytical measurement range (AMR) 0.7-2652 pg/ml. There was a moderate correlation between Ella IL-6 assay (y) and a Luminex Quantitative Multiplex Bead Assay in a reference lab (x): y=8.561x-475.38, R=0.5047, SEE=1592.8 pg/mL, N=48). Measurement of IL-6 in plasma samples from 45 healthy adults showed the upper limit of reference of 5.0 pg/mL. 95.83% (95% CI: 89.67%-98.85%) of COVID-19 patients had IL-6 >5.0 pg/mL. This assay is resistant to the interference from hemoglobin up to 1,144 mg/dL, triglyceride 1,699 mg/dL, bilirubin 35 mg/dL, biotin 1000 ng/mL, tocilizumab 240 µg/mL, IL-11 50,000 pg/mL, GP130 50,000 pg/mL, and IL-6Rα 1,000 pg/mL. CONCLUSIONS: The IL-6 assay on the Ella platform is robust with minimum manual operation. The analytical and clinical performance characteristics meet the clinical needs.


Asunto(s)
COVID-19 , Interleucina-6 , Humanos , Interleucina-6/sangre , COVID-19/sangre , COVID-19/diagnóstico , Inmunoensayo/métodos , Inmunoensayo/normas , Adulto , SARS-CoV-2/aislamiento & purificación , Femenino , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Anciano , Anticuerpos Monoclonales Humanizados
11.
Sci Rep ; 14(1): 16223, 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39003319

RESUMEN

Advancements in cloud computing, flying ad-hoc networks, wireless sensor networks, artificial intelligence, big data, 5th generation mobile network and internet of things have led to the development of smart cities. Owing to their massive interconnectedness, high volumes of data are collected and exchanged over the public internet. Therefore, the exchanged messages are susceptible to numerous security and privacy threats across these open public channels. Although many security techniques have been designed to address this issue, most of them are still vulnerable to attacks while some deploy computationally extensive cryptographic operations such as bilinear pairings and blockchain. In this paper, we leverage on biometrics, error correction codes and fuzzy commitment schemes to develop a secure and energy efficient authentication scheme for the smart cities. This is informed by the fact that biometric data is cumbersome to reproduce and hence attacks such as side-channeling are thwarted. We formally analyze the security of our protocol using the Burrows-Abadi-Needham logic logic, which shows that our scheme achieves strong mutual authentication among the communicating entities. The semantic analysis of our protocol shows that it mitigates attacks such as de-synchronization, eavesdropping, session hijacking, forgery and side-channeling. In addition, its formal security analysis demonstrates that it is secure under the Canetti and Krawczyk attack model. In terms of performance, our scheme is shown to reduce the computation overheads by 20.7% and hence is the most efficient among the state-of-the-art protocols.

12.
Curr Opin Gastroenterol ; 40(5): 431-438, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-38935270

RESUMEN

PURPOSE OF REVIEW: The burdens of pancreatic ductal adenocarcinoma (PDAC) and acute pancreatitis are increasing globally. We reviewed current literature on whether acute pancreatitis is a causal factor for PDAC and examined clinical manifestations of PDAC-associated acute pancreatitis. RECENT FINDINGS: Recent findings detail the timing of acute pancreatitis before and after PDAC occurrence, further solidifying the evidence for PDAC-associated acute pancreatitis and for acute pancreatitis as a causal risk factor for PDAC. The risk of PDAC remains elevated above the general population in patients with distant history of acute pancreatitis. PDAC risk also increases with recurrent acute pancreatitis episodes, independent of smoking and alcohol. Mechanisms linking acute pancreatitis to PDAC include inflammation and neutrophil infiltration, which can be attenuated by suppressing inflammation and/or epigenetic modulation, thus slowing the progression of acinar-to-ductal metaplasia. Clinical presentation and management of acute pancreatitis in the context of PDAC are discussed, including challenges acute pancreatitis poses in the diagnosis and treatment of PDAC, and novel interventions for PDAC-associated acute pancreatitis. SUMMARY: PDAC risk may be reduced with improved acute pancreatitis prevention and treatment, such as antiinflammatories or epigenetic modulators. Increased acute pancreatitis and PDAC burden warrant more research on better diagnosis and management of PDAC-associated acute pancreatitis.


Asunto(s)
Carcinoma Ductal Pancreático , Neoplasias Pancreáticas , Pancreatitis , Humanos , Pancreatitis/etiología , Neoplasias Pancreáticas/etiología , Carcinoma Ductal Pancreático/complicaciones , Factores de Riesgo , Enfermedad Aguda
13.
Surg Endosc ; 38(8): 4402-4414, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38886232

RESUMEN

BACKGROUND: There is little international data on morbidity and mortality of surgery for perforated peptic ulcer (PPU). This study aimed to understand the global 30-day morbidity and mortality of patients undergoing surgery for PPU and to identify variables associated with these. METHOD: We performed an international study of adults (≥ 18 years) who underwent surgery for PPU from 1st January 2022 to 30th June 2022. Patients who were treated conservatively or had an underlying gastric cancer were excluded. Patients were divided into subgroups according to age (≤ 50 and > 50 years) and time from onset of symptoms to hospital presentation (≤ 24 and > 24 h). Univariate and Multivariate analyses were carried out to identify factors associated with higher 30-day morbidity and mortality. RESULTS:  1874 patients from 159 centres across 52 countries were included. 78.3% (n = 1467) of the patients were males and the median (IQR) age was 49 years (25). Thirty-day morbidity and mortality were 48.5% (n = 910) and 9.3% (n = 174) respectively. Median (IQR) hospital stay was 7 (5) days. Open surgery was performed in 80% (n = 1505) of the cohort. Age > 50 years [(OR = 1.7, 95% CI 1.4-2), (OR = 4.7, 95% CI 3.1-7.6)], female gender [(OR = 1.8, 95% CI 1.4-2.3), (OR = 1.9, 95% CI 1.3-2.9)], shock on admission [(OR = 2.1, 95% CI 1.7-2.7), (OR = 4.8, 95% CI 3.2-7.1)], and acute kidney injury [(OR = 2.5, 95% CI 1.9-3.2), (OR = 3.9), 95% CI 2.7-5.6)] were associated with both 30-day morbidity and mortality. Delayed presentation was associated with 30-day morbidity [OR = 1.3, 95% CI 1.1-1.6], but not mortality. CONCLUSIONS: This study showed that surgery for PPU was associated with high 30-day morbidity and mortality rate. Age, female gender, and signs of shock at presentation were associated with both 30-day morbidity and mortality.


Asunto(s)
Úlcera Péptica Perforada , Humanos , Úlcera Péptica Perforada/cirugía , Úlcera Péptica Perforada/mortalidad , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/mortalidad , Complicaciones Posoperatorias/etiología , Tiempo de Internación/estadística & datos numéricos , Salud Global , Factores de Riesgo
14.
J Food Drug Anal ; 32(2): 194-212, 2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-38934692

RESUMEN

Investigation of utilization possibilities of natural sources has been an important area for research. Tyrosinase inhibitory activity plays a key role in food and medicine industry. Strawberry tree (Arbutus unedo), a widely distributed plant among Mediterranean countries, possess fruits and leaves with rich bioactive phytochemicals, especially polyphenolic compounds. In this study, we aimed to investigate the antityrosinase activity of the fruit and leaf extracts of the plant, and to determine the phenolic compounds that contribute to the antityrosinase activity. In this regard, we evaluated the effect of solvent composition on the extraction of phenolic compounds from A. unedo and on its antityrosinase activity using a simplex centroid design approach, and used chromatographic and LC-MS/MS techniques. The leaf extracts prepared using EtOH:water (50:50) provided higher TPC (456.39 mg GAE/g extract) and acetone:EtOH:water (33:33:33) provided higher TFC (56.15 mg QE/g extract) values than of fruit extracts. LC-MS/MS analysis revealed 23 phenolic/flavonoid compounds in leaf extracts (L1-8), and major metabolites were detected as quercitrin, quinic acid, catechin, tannic acid, isoquercitrin, gallic acid, and ellagic acid. Among the leaf extracts, L3 (aceton:water, 50:50) exhibited 72.01% tyrosinase inhibition at 500 µg/mL. After fractionation studies guided by antityrosinase activity, its subfraction L3-Fr2 exhibited 40.06% inhibition at 50 µg/mL concentration (IC50: 146 ± 7.75 µg/mL), and catechin (113.19 mg/g), tannic acid (53.14 mg/g), ellagic acid (22.14 mg/g), gallic acid (10.27 mg/g), and epicatechin gallate (8.65 mg/g) were determined as major metabolites. Its subfraction L3-Fr2-sub7 exhibited better antityrosinase activity (IC50: 206.23 ± 9.87 µg/mL), and quantitative analysis results revealed the presence of tannic acid (127.40 mg/g), gallic acid (13.96 mg/g), ellagic acid (7.66 mg/g), quercetin-3-O-glucuronide (5.06 mg/g), and quinic acid (3.2 mg/g) as major metabolites, and correlation analysis showed that ellagic acid and quinic acid were positively correlated with antityrosinase activity.


Asunto(s)
Frutas , Monofenol Monooxigenasa , Extractos Vegetales , Espectrometría de Masas en Tándem , Extractos Vegetales/química , Extractos Vegetales/farmacología , Monofenol Monooxigenasa/antagonistas & inhibidores , Frutas/química , Inhibidores Enzimáticos/química , Inhibidores Enzimáticos/farmacología , Hojas de la Planta/química , Cromatografía Liquida/métodos , Fenoles/química , Fenoles/análisis , Fenoles/farmacología , Cromatografía Líquida de Alta Presión , Anacardiaceae/química , Flavonoides/análisis , Flavonoides/farmacología , Flavonoides/química , Cromatografía Líquida con Espectrometría de Masas
15.
Artículo en Inglés | MEDLINE | ID: mdl-38875048

RESUMEN

OBJECTIVE: To assess the current practice in using volume-targeted ventilation among neonatologists working at the Neonatal Intensive Care Units (NICU) of Saudi Arabia. METHODS: The questionnaire was provided electronically to 153 practicing Neonatologists working in 39 NICUs. The survey's results were received and statistically analyzed. RESULTS: One hundred nineteen (119) responses were received with, a 78% response rate. Volume Targeted Ventilation (VTV) was used routinely by 67.2%, whereas 21.8% still use only pressure control (PC)/pressure limited (PL) mode. During the acute phase of ventilation support, Assist Control was the most popular synchronized mode, whereas Synchronized Intermittent Mandatory Ventilation (SIMV) with pressure support (PS) or PSV were the two most common modes during the weaning phase, 31.8%, and 31% respectively. The majority of the neonatologists used a tidal volume of 4 ml/kg as the lowest and 6 ml/kg as the highest. The major reasons for not implementing VTV were the limited availability of ventilator devices that have an option of VTV, followed by lack of experience. CONCLUSION: VTV is the predominant ventilation practice approach among neonatologists working in the KSA. Limited availability and lack of experience in using are the main challenges. Efforts to equip NICUs with the most advanced ventilation technology, enhance practitioners' experience and sufficient training in its use are warranted.

16.
Phys Rev Lett ; 132(22): 221004, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38877907

RESUMEN

We argue that there is a lower bound of order 10^{-19} eV on dark matter mass if it is produced after inflation via a process with finite correlation length. We rely on nondetection of free-streaming suppression and white-noise enhancement of density perturbations as the observational inputs.

17.
Opt Express ; 32(12): 21909-21924, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38859533

RESUMEN

Mueller matrices provide a complete description of a medium's response to excitation by polarized light, and their characterization is important across a broad range of applications from ellipsometry in material science to polarimetry in biochemistry, medicine and astronomy. Here we introduce single-shot Mueller matrix polarimetry based on generalized measurements performed with a Poincaré beam. We determine the Mueller matrix of a homogeneous medium with unknown optical activity by detecting its optical response to a Poincaré beam, which across its profile contains all polarization states, and analyze the resulting polarization pattern in terms of four generalized measurements, which are implemented as a path-displaced Sagnac interferometer. We illustrate the working of our Mueller matrix polarimetry on the example of tilted and rotated wave plates and find excellent agreement with predictions as well as alternative Stokes measurements. After initial calibration, the alignment of the device stays stable for up to 8 hours, promising suitability for the dynamic characterization of Mueller matrices that change in time. Unlike traditional rotating waveplate polarimetry, our method allows the acquisition of a sample's dynamic Mueller matrix. We expect that our feasibility study could be developed into a practical and versatile tool for the real-time analysis of optical activity changes, with applications in biomedical and biochemical research and industrial monitoring.

18.
medRxiv ; 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38798571

RESUMEN

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum. Whole exome sequencing revealed a homozygous missense variant in the nucleotide binding domain of ATP8A2 (p.Leu538Pro) that results in near complete loss of protein expression. This is in line with other missense variants in the same domain leading to protein misfolding and loss of ATPase function. In addition, by performing diffusion-weighted imaging, we identified bilateral hyperintensities in the posterior limbs of the internal capsule suggesting possible microstructural changes in axon tracts that had not been appreciated before and could contribute to the sensorimotor deficits in these individuals.

19.
J Environ Manage ; 359: 121058, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38714036

RESUMEN

Water pollution remains a pressing environmental issue, with diverse pollutants such as heavy metals, pharmaceuticals, dyes, and aromatic hydrocarbon compounds posing a significant threat to clean water access. Historically, biomass-derived activated carbons (ACs) have served as effective adsorbents for water treatment, owing to their inherent porosity and expansive surface area. Nanocomposites have emerged as a means to enhance the absorption properties of ACs, surpassing conventional AC performance. Biomass-based activated carbon nanocomposites (ACNCs) hold promise due to their high surface area and cost-effectiveness. This review explores recent advancements in biomass-based ACNCs, emphasizing their remarkable adsorption efficiencies and paving the way for future research in developing efficient and affordable ACNCs. Leveraging real-time communication for ACNC applications presents a viable approach to addressing cost concerns.


Asunto(s)
Carbón Orgánico , Frutas , Nanocompuestos , Verduras , Purificación del Agua , Nanocompuestos/química , Carbón Orgánico/química , Purificación del Agua/métodos , Frutas/química , Adsorción , Verduras/química , Contaminantes Químicos del Agua/química , Biomasa
20.
Mar Environ Res ; 198: 106535, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38704932

RESUMEN

One of the most difficult-to-manage new contaminants constantly released into the environment is linear alkylbenzene sulphonate (LAS), an anionic surfactant. Significant volumes of LAS are received by the Mediterranean coast of Egypt. The current study is a comprehensive assessment of the environmental fate of the LAS 1505 km off the Mediterranean coast of Egypt in the fall of 2023 in order to track its geographic spread and eventual demise in the water column. Critical analysis of LAS revealed that it is vertically distributed in various ways according to sources, uses, production amounts, and salinity levels. The vertical variation of LAS can be explained by its amphiphilic structure. A significant increase in surfactant concentration (>300 µg/L) was recorded in 66% and 43% of the total samples, ranging from 301.128 to 455.36 and from 304.556 to 486.135 for the western and eastern sides along the Egyptian Mediterranean coast, respectively. Evaluation of the average acute and chronic risk quotient (RQ) along the investigated locations revealed that fish were the most susceptible to LAS in both long and short exposure periods. The presented results also indicated significant LAS toxicity to three trophic levels (RQ values > 1). LAS toxicity to marine organisms was greater in the western than in eastern coastal regions according to acute and chronic mixture risk characterization ratios (RCRmix). The three trophic levels in the study area had the following order of acute relative contribution (RC) to LAS toxicity: fish > invertebrates > algae. The ANOVA test results showed that in both the western and eastern regions, LAS varied significantly (p < 0.05) with salinity (1.04E-60 and 5.44E-42) and depth (6.02E-65 and 1.59E-47), respectively. In addition, a significant difference was observed using the ANOVA test between the eastern and western regions of the Egyptian Mediterranean coast.


Asunto(s)
Monitoreo del Ambiente , Tensoactivos , Contaminantes Químicos del Agua , Egipto , Contaminantes Químicos del Agua/toxicidad , Contaminantes Químicos del Agua/análisis , Tensoactivos/toxicidad , Mar Mediterráneo , Animales , Ácidos Alcanesulfónicos/toxicidad , Peces , Medición de Riesgo , Organismos Acuáticos/efectos de los fármacos , Agua de Mar/química
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