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Replicating human somatosensory networks in robots is crucial for dexterous manipulation, ensuring the appropriate grasping force for objects of varying softness and textures. Despite advances in artificial haptic sensing for object recognition, accurately quantifying haptic perceptions to discern softness and texture remains challenging. Here, we report a methodology that uses a bimodal haptic sensor to capture multidimensional static and dynamic stimuli, allowing for the simultaneous quantification of softness and texture features. This method demonstrates synergistic measurements of elastic and frictional coefficients, thereby providing a universal strategy for acquiring the adaptive gripping force necessary for scarless, antislippage interaction with delicate objects. Equipped with this sensor, a robotic manipulator identifies porcine mucosal features with 98.44% accuracy and stably grasps visually indistinguishable mature white strawberries, enabling reliable tissue palpation and intelligent picking. The design concept and comprehensive guidelines presented would provide insights into haptic sensor development, promising benefits for robotics.
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Robótica , Animales , Porcinos , Humanos , Fuerza de la Mano/fisiología , TactoRESUMEN
BACKGROUND: Autologous arteriovenous fistulae (AVFs) are the best type of vascular access in patients with kidney failure. However, the conventional technique has a high failure rate. We performed a randomised controlled trial to investigate whether the no-touch technique has a higher maturation and patency rate than that of the conventional technique for creating AVFs. METHODS: This study was a single-centre randomised controlled trial involving patients with kidney failure requiring an AVF for haemodialysis access. A total of 179 patients undergoing their first radial artery-cephalic fistula were randomized 1:1 to the no-touch technique (n = 90) or conventional technique (n = 89). The maturation and patency rate of the two techniques were compared and analysed. RESULTS: The preoperative baseline data showed no differences between groups. When comparing the no-touch technique to the conventional technique, the maturation rate was 93% vs. 89% and the 1-year primary function patency was 72% vs. 62%, respectively. Factors associated with AVF failure included age > 55 years (OR = 2.417, 95% CI 1.242-4.703), female sex (OR = 2.149, 95% CI 1.099-4.202), and vein diameter ≤ 1.8 mm (OR = 3.664, 95% CI 1.714-7.832). For patients with small veins the maturation rate was 92.98% vs. 80% and the 1-year primary function patency was 68.42% vs. 40% for the no-touch technique and conventional technique, respectively. CONCLUSIONS: The no-touch technique has a higher maturation and patency rate than the conventional technique for creating an autologous AVF, especially in patients with small veins. This technique may provide a better outcome for patients with small cephalic veins.
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Sweat analysis is identified as a promising biochemical technique for the non-invasive assessment of human health status. Epidermal microfluidic patches are the predominant sweat sampling and sensing devices. However, the sweat stored inside the patches may suffer from evaporation loss of moisture, which can increase the concentration of biomarkers and cause the biochemical analysis results of sweat to deviate from the actual results. This study focuses on quantitatively analysing the sweat evaporation loss within epidermal microfluidic patches. Analytical models based on the dissolution diffusion mechanism and corresponding partial differential equations for the diffusion process were initially developed. The analytical solution of the equation was derived using the method of separation of variables, and the steady-state concentration distribution of water in the materials of microfluidic patches was calculated when considering the application of epidermal microfluidics. Evaporation losses of sweat through different paths were quantitatively calculated and analysed, including permeation through covers, diffusion along microchannels, and absorption by sidewalls. Then, experiments on the evaporation loss of sweat within microfluidic patches were conducted to validate the theoretical calculations and analytical results. At last, the design of the anti-evaporation structure for microfluidic patches was discussed. This study can provide theoretical and experimental references for the design of water-retention structures in epidermal microfluidic patches, which significantly enhances the overall reliability of sweat biochemical analysis results.
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In addition to the common blood and urine, fresh sweat contains a diverse range of physiological indicators that can effectively reflect changes in the body's state. Wearable sweat sensors are crucial for understanding human physiological health; however, real-time in situ measurement of multiple biomarkers in sweat remains a significant challenge. Here, we propose a wearable microfluidic patch featuring an integrated microfluidic channel and evaporation pump for accelerated and continuous sweat collection, eliminating the need for additional sweat storage cavities that typically impede real-time detection. Capillary forces are harnessed to facilitate the rapid flow of sweat through the detection area, while an evaporation pump based on porous laser-induced graphene enhances sweat evaporation. The synergistic integration of these two components enables an uninterrupted flow of fresh sweat within the patch, ensuring real-time monitoring. The influence of channel size parameters on sweat flow velocity is analyzed, and the optimal width-to-height ratio for achieving the desired flow velocity is determined. By implementing a multi-channel parallel design with chamfering, liquid flow resistance is effectively reduced. Furthermore, the patch integrates sensor modules for sodium ion, chloride ion, glucose, and pH value measurements, ensuring excellent sealing and stability of the assembled system. This work presents a simplified approach to developing wearable sweat sensors that hold the potential for health monitoring and disease diagnosis.
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Magnetic hydrogel actuators exhibit promising applications in the fields of soft robotics, bioactuators, and flexible sensors owing to their inherent advantages such as remote control capability, untethered deformation and motion control, as well as easily manipulable behavior. However, it is still a challenge for magnetic hydrogels to achieve adjustable stiffness and shape fixation under magnetic field actuation deformation. Herein, a simple and effective approach is proposed for the design of magnetic shape memory hydrogels to accomplish this objective. The magnetic shape memory hydrogels, consisting of methacrylamide, methacrylic acid, polyvinyl alcohol and Fe3O4 magnetic particles, which crosslinked by hydrogen bonds, are facilely prepared via one-pot polymerization. The dynamic nature of noncovalent bonds offers the magnetic hydrogels with excellent mechanical properties, precisely controlled stiffness, and effective shape fixation. The presence of Fe3O4 particles renders the hydrogels soft when subjected to an alternating current field, facilitating their deformation under the influence of an actuation magnetic field. After the elimination of the alternating current magnetic field, the hydrogels stiffen and attain a fixed actuated shape in the absence of any external magnetic field. Moreover, this remarkable magnetic shape memory hydrogel is effectively employed as an underwater soft gripper for lifting heavy objects. This work provides a novel strategy for fabricating magnetic hydrogels with non-contact reversible actuation deformation, tunable stiffness and shape locking.
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Multi-photon reduction (MPR) based on femtosecond laser makes rapid prototyping and molding in micro-nano scale feasible, but is limited in material selectivity due to lack of the understanding of the reaction mechanism in MPR process. In this paper, additively manufacturing of complex silver-based patterns through MPR is demonstrated. The effects of laser parameters, including laser pulse energies and scanning speeds, on the structural and chemical characteristics of the printed structures are systematically investigated. The results show that the geometric size of printed cubes deviates from the designed size further by increasing laser pulse energy or decreasing scanning speed. The reaction mechanism of MPR is revealed by studying the elemental composition and chemical structures of printed cubes. The evolution of Raman spectra upon the laser processing parameters suggests that the MPR process mainly includes two processes: reduction and decomposition. In the MPR process, silver ions are reduced and grow into particles by accepting the electrons from ethonal molecules; meanwhile carboxyl groups in polyvinylpyrrolidone are decomposed and form amorphous carbon that is attached on the surface of silver particles. The conductivity of silver wires fabricated by MPR reaches 2 × 105S m-1and stays relatively constant as varying their cross section area, suggesting excellent electrical conduction. The understanding of the MPR process would accelerate the development of MPR technology and the implementation of MPR in micro-electromechanical systems could therefore be envisioned.
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Secure landing is indispensable for both leaping animals and robotics. Tree frogs, renowned for their adhesive capabilities, can effectively jump across intricate 3D terrain and land safely. Compared with jumping, the mechanisms underlying their landing technique, particularly in arboreal environments, have remained largely unknown. In this study, we focused on the landing patterns of the tree frog Polypedates dennysi on horizontally placed perches, explicitly emphasizing the influence of perch diameters. Tree frogs demonstrated diverse landing postures, including the utilization of: (1) single front foot, (2) double front feet, (3) anterior bellies, (4) middle bellies, (5) posterior bellies, (6) single hind foot, or (5) double hind feet. Generally, tree frogs favoured bellies on slimmer targets but double front feet on large perches. Analysis of limb-trunk relationships revealed their adaptability to modify postures, including body positions and limb orientations, for successful landing. The variations in the initial landing postures affected the subsequent landing procedures and, consequently, the dynamics. As the initial contact position switched from front foot back to the hind foot, the stabilization time decreased at first, reaching a minimum in middle belly landings, and then increased again. The maximum vertical forces showed an inverse trend, whereas the maximum fore-aft forces continuously increased as the initial contact position switched. As the perch diameter increased, the time expended dropped, whereas the maximum impact force increased. These findings not only add to our understanding of frog landings but also highlight the necessity of considering perch diameters and landing styles when studying the biomechanics of arboreal locomotion.
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Anuros , Locomoción , Animales , Anuros/fisiología , Fenómenos Biomecánicos , Locomoción/fisiología , PosturaRESUMEN
PURPOSE: The purpose of this study is to assess the efficacy and safety of cilostazol prescription in patients with femoropopliteal peripheral artery disease (PAD) after endovascular therapy (EVT). MATERIALS AND METHODS: We conducted a systematic review and meta-analysis of all studies reporting the outcomes of cilostazol after femoropopliteal EVT of PAD up to September 2022. Clinical outcomes of interest included primary patency, in-stent restenosis (ISR), vessel re-occlusion, freedom from target lesion revascularization (TLR), repeat revascularization, all-cause mortality, amputation, major adverse cardiovascular events (MACEs) and major adverse limb events (MALEs), and bleeding complication. RESULTS: A total of 4 randomized controlled trials (RCTs) and 8 observational studies containing a total of 4898 patients met the inclusion criteria and were included in this systematic review and meta-analysis. We found that the use of cilostazol was associated with higher primary patency after femoropopliteal artery EVT (odds ratio [OR]=1.67, 95% confidence interval [CI]=1.50-1.87, p<0.001, I2=33.2%), a lower risk of ISR (OR=0.43, 95% CI=0.29-0.63, p<0.001, I2=37.6%), repeat revascularization (OR=0.43, 95% CI=0.24-0.76, p<0.005, I2=27.4%), and vessel re-occlusion (OR=0.59, 95% CI=0.38-0.93, p<0.05, I2=0%). There was an increase in freedom from TLR rate (OR=2.19, 95% CI=1.58-3.05, p<0.001, I2=0%), as well as a reduction in the occurrence of MALEs (OR=0.50, 95% CI=0.29-0.85, p<0.05, I2=0%). However, there was no significant difference in amputation, MACEs, all-cause mortality, and major bleeding complications. Subgroup analysis showed that cilostazol treatment in patients with femoropopliteal drug-eluting stents (DES) implantation remained associated with higher primary patency and a lower risk of ISR. CONCLUSIONS: After EVT of femoropopliteal artery lesions, additional oral cilostazol enhances primary patency, reduces the occurrences of ISR and vessel re-occlusion, diminishes the risks associated with MALEs, lowers the need for repeat revascularization, and increases freedom from TLR rates. However, it does not impact amputation, MACEs, all-cause mortality, or major bleeding complications. These findings suggest cilostazol as a potentially safe and effective adjunct therapy in patients with femoropopliteal PAD after EVT. CLINICAL IMPACT: After undergoing endovascular therapy (EVT) for femoropopliteal artery lesions, the addition of cilostazol to antiplatelet therapy can significantly improve primary patency, reducing the incidence of in-stent restenosis, repeat revascularization, vessel re-occlusion, and major adverse limb events while increasing freedom from target lesion revascularization rate. The simultaneous use of drug-eluting stents in the femoropopliteal artery lesions, combined with cilostazol, potentially results in a synergistic anti-stenotic effect. This therapeutic approach does not appear to be associated with an increased risk of major bleeding events or all-cause mortality. These findings provide additional evidence supporting the treatment of anti-stenosis in patients with femoropopliteal artery lesions after EVT.
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Aquatic locomotion is challenging for land-dwelling creatures because of the high degree of fluidity with which the water yields to loads. We surprisingly found that the Chinese rice grasshopper Oxya chinensis, known for its terrestrial acrobatics, could swiftly launch itself off the water's surface in around 25 ms and seamlessly transition into flight. Biological observations showed that jumping grasshoppers use their front and middle legs to tilt up bodies first and then lift off by propelling the water toward the lower back with hind legs at angular speeds of up to 18°/ms, whereas the swimming grasshoppers swing their front and middle legs in nearly horizontal planes and move hind legs less violently (~8°/ms). Force measurement and model analysis indicated that the weight support could be achieved by hydrostatics which are proportionate to the mass of the grasshoppers, while the propulsions for motion are derived from the controlled limb-water interactions (i.e., the hydrodynamics). After learning the structural and behavioral strategies of the grasshoppers, a robot was created and was capable of swimming and jumping on the water surface like the insects, further demonstrating the effectiveness of decoupling the challenges of aquatic locomotion by the combined use of the static and dynamic hydro forces. This work not only uncovered the combined mechanisms responsible for facilitating aquatic acrobatics in this species but also laid a foundation for developing bioinspired robots that can locomote across multiple media.
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Saltamontes , Robótica , Animales , Locomoción , Insectos , Agua , Fenómenos BiomecánicosRESUMEN
The droplet lossless directional motion control on slippery surfaces holds immense promise for applications in microfluidic chips, hazardous substance detection, chemical dispensing, etc. However, a significant challenge in this domain lies in efficiently developing soft, slippery surfaces with large-range anisotropic wettability and compatibility for curved scenarios. This study addressed this challenge through a quick 3D printing-assisted method to produce soft, ridged-slippery surfaces (SRSSs) as the droplet manipulation platform. The SRSSs demonstrated substantial anisotropic rolling resistances, measuring 116.9 µN in the perpendicular direction and 7.7 µN in the parallel direction, exhibiting a ratio of 15.2. Combining several extents of anisotropic wettability on a soft substrate could realize diverse reagent manipulation functions. Furthermore, these SRSSs showcased high compatibility with various droplet constituents, impressive liquid impact resistance, self-repair capability, and mechanical durability and thermal durability, ensuring exceptional applicability. As proofs of concept, the SRSSs were successfully applied in droplet control and classification for heavy metal ion detection, mechanical arm-based droplet grab and release, and cross-species transport, showcasing their remarkable versatility, compatibility, and practicality in advanced droplet microfluidic chips and water harvesting applications.
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PURPOSE: This study aimed to assess the efficacy and safety outcome of covered stents (CSs), as compared with bare-metal stents (BMSs), for the treatment of patients with aortoiliac occlusive disease (AIOD). MATERIALS AND METHODS: A systematic literature search was conducted in PubMed, Embase, and Cochrane Library up to August 2023 to identify all studies comparing efficacy and safety outcomes of CSs versus BMSs for treating AIOD. Our outcome was primary patency, secondary patency, technical success, ankle-brachial index (ABI) variation, target lesion revascularization (TLR), limb salvage, complications, and long-term survival. Dichotomous outcomes were pooled as relative risks (RR) or hazard ratio with the 95% confidence interval (CI). Continuous outcomes were pooled as weighted mean differences and 95% CI. Model selection was based on the heterogeneity of the included studies. RESULTS: There were 10 studies (2 randomized controlled trials, 8 retrospective cohort studies), comprising 1676 sample size. Compared with BMSs, CSs use was associated with better primary patency of patients with a Trans-Atlantic Inter-Society Consensus II (TASC) D lesion (RR, 1.15, 95% CI, 1.04 to 1.27, p=0.007), TLR (RR, 0.39, 95% CI, 0.27 to 0.56, p<0.001), technical success (RR, 1.01, 95% CI, 1.00 to 1.02, p=0.010), and long-term survival (RR, 1.06, 95% CI, 1.01 to 1.11, p=0.020). There is no difference between CSs and BMSs regarding primary patency of all patients, secondary patency, variation in ABI, limb salvage, and complications. CONCLUSIONS: Compared with BMSs, CSs used in AIOD was associated with more favorable primary patency in patients with TASC D lesions, TLR, technical success rates, and patient long-term survival. These results provide evidence of the advantages of using CSs for AIOD treatment. Future studies focusing on long-term variations in ABI, primary patency of different degrees of calcification, vascular segments, and TASC classification are warranted. CLINICAL IMPACT: Although several studies evaluated the clinical efficacy of CS in the context of AIOD treatment, the significance and consistency of these findings were not determined to date. We found that CS was used in AIOD associated with better technical success rate, long-term patient survival, lower target lesion revascularization, and higher primary patency of patients with a Trans-Atlantic Inter-Society Consensus II D lesion when compared with BMSs. Our study provides evidence supporting the superiority of CSs over BMSs in the treatment of AIOD, and furnishing clinicians with guidance for treatment decisions.
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BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene. METHODS: Clinical data such as magnetic resonance imaging (MRI), routine blood tests, and physical examinations were collected from proband. Trio whole-exome sequencing (WES) of the family was performed, and all variants with a minor allele frequency (<0.01) in the exon and canonical splicing sites were selected for further pathogenic evaluation. Candidate variants were validated using Sanger sequencing. RESULTS: Here, we report a new homozygous variant identified in two children from the same family in the MLC1 gene [NM_015166.4: c.838_843delinsATTTTA, (p.Ser280_Phe281delinsIleLeu)]. This variant is classified as variant of uncertain significance (VUS) according to the ACMG guidelines. Further experiments demonstrate that the newly identified variant causes a decrease of MLC1 protein levels when expressed in a heterologous expression system. CONCLUSION: Our case expands on this genetic variation and provides new evidence for the clinical diagnosis of MLC1-related MLC.
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Quistes , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias , Megalencefalia , Niño , Humanos , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Mutación , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/diagnóstico por imagen , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genéticaRESUMEN
During the sunflower seed production process, the role of artificial shading treatment (ST) in seed development and subsequent seed germination remains largely unknown. In the present study, sunflower mother plants were artificially shaded during 1-34 (full period-ST, FST), 1-22 (early period-ST, EST), and 22-34 (late period-ST, LST) days after pollination (DAP), to examine the effects of parental shading on subsequent seed germination. Both FST and EST significantly reduced the photosynthetic efficiency of sunflower, manifested as decreased seed dry weight and unfavorable seed germination. On the contrary, LST remarkably increased seed dry weight and promoted subsequent seed germination and seedling establishment. LST enhanced the activities of several key enzymes involved in triglyceride anabolism and corresponding-genes expression, which in turn increased the total fatty acid contents and altered the fatty acid composition. During early germination, the key enzyme activities involved in triglyceride disintegration and corresponding-gene expressions in LST seeds were apparently higher than those in seeds without the shading treatment (WST). Consistently, LST seeds had significant higher contents of ATP and soluble sugar. Moreover, enzyme activities related to abscisic acid (ABA) biosynthesis and corresponding gene expressions decreased within LST seeds, whereas the enzyme activities and corresponding gene expressions associated with gibberellin (GA) biosynthesis were increased. These results were also evidenced by the reduced ABA content but elevated GA level within LST seeds, giving rise to higher GA/ABA ratio. Our findings suggested that LST could promote sunflower seed development and subsequent seed germination as well as seedling establishment through modulating the dynamic metabolism of triglycerides, fatty acid and GA/ABA balance.
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Helianthus , Plantones , Germinación/genética , Helianthus/genética , Helianthus/metabolismo , Ácido Abscísico/metabolismo , Semillas/metabolismo , Giberelinas/metabolismo , Ácidos Grasos/metabolismo , Triglicéridos/metabolismo , Regulación de la Expresión Génica de las PlantasRESUMEN
Flexible and stretchable electronics have attractive applications inaccessible to conventional rigid electronics. However, the mainstream transfer printing techniques have challenges for electronic films in terms of thickness and size and limitations for target substrates in terms of curvature, depth, and interfacial adhesion. Here a facile, damage-free, and contamination-free soap film transfer printing technique is reported that enables the wrinkle-free transfer of ultrathin electronic films, precise alignment in a transparent manner, and conformal and adhesion-independent printing onto various substrates, including those too topographically and adhesively challenging by existing methods. In principle, not only the pattern, resolution, and thickness of transferred films, but also the curvature, depth, and adhesion of target substrates are unlimited, while the size of transferred films can be as high as meter-scale. To demonstrate the capabilities of soap film transfer printing, pre-fabricated ultrathin electronics with multiple patterns, single micron resolution, sub-micron thickness, and centimeter size are conformably integrated onto the ultrathin web, ultra-soft cotton, DVD-R disk with the minimum radius of curvature of 131 nm, interior cavity of Klein bottle and dandelion with ultralow adhesion. The printed ultrathin sensors show superior conformabilities and robust adhesion, leading to engineering opportunities including electrocardiogram (ECG) signal acquisition and temperature measurement in aqueous environments.
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Dynamic attachment is indispensable for animals to cope with unexpected disturbances. Minor attention has been paid to the dynamic performance of insects' adhesive pads. Through experiments pulling whole grasshoppers off a glass rod at varying speeds, surprising findings emerged. The feet did not always maintain contact but released and then reconnected to the substrate rapidly during leg extension, potentially reducing the shock damage to pads. As the pulling speeds increased from 1 to 400 mm/s, the maximum forces of single front tarsus insects and entire tarsi insects were nearly proportional to the 1/3 power of pulling speeds by 0.11 and 0.29 times, respectively. The force of some individuals could be even 800 times greater than their weight, which is unexpectedly high for smooth insect pads. This work not only helps us to understand the attachment intelligence of animals but is also informative for artificial attachment in extreme situations.
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Background: Reversible splenial lesion syndrome (RESLES) is a new clinico-radiological syndrome. We retrospectively analyzed the clinical features of 130 children with RESLES in China, which is the largest case series available in the literature. Methods: The clinical data of children diagnosed as RESLES in Jiangxi Provincial Children's Hospital between 2017 and 2023 were retrospectively analyzed. The 130 cases were divided into two groups: ≤ 3 years old group (group A) (n = 83) and > 3 years old group (group B) (n = 47). The chi-squared test or Fisher's test was used to evaluate the data. Results: The vast majority of patients (127/130 cases, 97.7%) had prodromal symptoms of infection. Preceding infections of the gastrointestinal tract were statistically more significant in group A (60/83, 72.3%) than in group B (11/47, 23.4%) (P < 0.05). Preceding infections of the respiratory tract were statistically more significant in group B (33/47, 70.2%) than in group A (17/83, 20.5%) (P < 0.05). Seizures were statistically more significant in group A (82/83, 98.8%) than in group B (24/47,51.1%) (P < 0.05). The disturbance of consciousness and headache/dizziness were statistically more significant in group B (27/47, 57.4%; 37/47, 78.7%) than in group A (3/83, 3.6%; 1/83, 1.2%), respectively (P < 0.05). Convulsions with mild gastroenteritis (CwG) were statistically more significant in group A (50/83, 60.2%) than in group B (8/47, 17.0%) (P < 0.05). However, encephalitis/encephalopathy was statistically more significant in group B (20/47, 42.6%) than in group A (10/83, 12.0%) (P < 0.05). MRI showed cytotoxic edema in typical locations (RESLES type-1 limited to the splenium of the corpus callosum and RESLES type-2 spread to the entire corpus callosum, adjacent white matter, or both). There was full recovery of the lesions of MRI in all cases from 3 days to 50 days after the initial examinations. All the children showed normal neurodevelopment. Conclusion: Infection was the most common cause of RESLES. Infections of the gastrointestinal tract are common in ≤ 3 years old children, while infections of the respiratory tract are common in >3 years old children. Younger patients are more likely to develop convulsions, and older children were more likely to have symptoms with disturbance of consciousness and headache/dizziness. RESLES has characteristic MRI manifestations and a good prognosis.
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PURPOSE: PHF21A has been associated with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Here, we report a new patient with IDDBCS and review previously reported patients. METHODS: We reviewed the phenotypic and genetic spectrum of the newly diagnosed patient and previously reported patients with IDDBCS. RESULTS: Among 12 patients (11 whose cases were previously reported and the patient whose case we report here), all patients (100%) had intellectual disability (ID) and motor development delay. Three of 8 patients (37.5%) for whom information on cognition was available had severe ID; ID was moderate in two patients (25%) and mild in three patients (37.5%). Seven of the 12 patients (58.33%) had an epileptic phenotype, and the majority (5/7, 71.42%) of affected individuals developed developmental and epileptic encephalopathy (DEE). Of the 5 patients with DEE, three developed infantile epileptic spasm syndrome (IESS). The seizures of 2 patients (2/5, 40%) were controlled by antiseizure medications. Overgrowth, ADHD, hypotonia, ASD, and sleep disorders were observed in 100%, 77.78%, 70%, 50%, and 33.33% of patients, respectively. All of the variants (100%) were de novo heterozygous variants. Three of the 12 patients (25%) had the same variant (p.Arg580*). The most common types of variants were frameshift variants (7/12, 58.33%), followed by nonsense variants (4/12, 33.33%) and missense variants (1/12, 8.33%). Genotype-phenotype relationships for IDDBCS were uncertain, as phenotypic variability was observed among patients with the same variant (p.Arg580*). The patient whose case we report here had a novel PHF21A gene variant (p.Gln97fs*20), which caused neurodevelopmental delay, macrocephaly, and IESS. CONCLUSION: The core phenotypes of IDDBCS include neurodevelopmental delay (intellectual disability and impaired motor skills), craniofacial abnormalities, and overgrowth. ADHD, hypotonia, epilepsy, ASD, and sleep disorders are common symptoms of IDDBCS. Notably, DEE is the dominant phenotype of epilepsy, especially IESS. PHF21A may be a candidate gene for DEE. De novo variants are the main mode of inheritance. The most common types of variants are frameshift variants, and the variant p.Arg580* in PHF21A is located at a mutation hot spot.
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Chilling stress is an important constraint for kale seed germination and seedlings establishment. It is vital to develop an effective approach to enhance kale seed germination ability under chilling stress. The present study reported that spermidine (Spd) could improve seed chilling tolerance in two kale cultivars 'Nagoya' (MGW) and 'Pigeon' (BB) during germination. The results showed that MGW was cold tolerant with a 90.67% germination percentage (GP) under chilling stress, while BB was cold sensitive with a 70.67% GP under chilling stress. Spd content in MGW and BB seeds during seed germination were up-regulated and down-regulated by chilling stress, respectively. Besides, chilling stress apparently decreased the gibberellin (GA) and ethylene (ET) contents, while increased the levels of abscisic acid (ABA) and reactive oxygen species (ROS) in MGW and BB seeds during germination. Exogenous Spd application increased GA, ET contents and decreased ABA content through regulating the gene expressions of metabolic-related enzymes, thus effectively alleviating the low temperature damage on kale seed germination. Besides, Spd significantly increased the activities of superoxide dismutase (SOD) and peroxidase (POD), and reduced the levels of hydrogen peroxide (H2O2) and superoxide anion (O2·-). The present study demonstrated that endogenous Spd metabolism plays an important role in kale seed germination under chilling stress. The effect of exogenous Spd on the metabolism of endogenous Spd, GA, ABA, ET and antioxidant enzymes might be the important reason for promoting the kale seed vigor at low temperature.
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Brassica , Espermidina , Espermidina/metabolismo , Reguladores del Crecimiento de las Plantas/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Brassica/metabolismo , Peróxido de Hidrógeno/metabolismo , Germinación , Plantones/metabolismo , Ácido Abscísico/metabolismo , Semillas/metabolismoRESUMEN
The neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) are emerging tools that can be used in the diagnosis of deep venous thrombosis (DVT). This study aims to evaluate the diagnostic value of NLR and PLR for patients with DVT. Our meta-analysis included 11 eligible studies and extracted relevant diagnostic indicators. Of these studies, 4 focused on the NLR, 1 on the PLR, while 6 evaluated both. For the 10 studies on NLR, the pooled sensitivity, specificity, positive-likelihood ratio, and negative-likelihood ratio were 74%, 66%, 2.16, and 0.4, respectively. The estimated diagnostic odds ratio (DOR) was 5.3, and the area under the curve (AUC) of the summary receiver operating characteristic (SROC) curves was 0.74. For the 7 studies on the PLR, the pooled sensitivity, specificity, positive-likelihood ratio, and negative-likelihood ratio were 0.65, 0.77, 2.89, and 0.45, respectively. The estimated DOR was 6.64, and the SROC-AUC was 0.79. Our findings showed that the NLR and PLR exhibit moderate diagnostic accuracy and may be helpful biomarkers for the diagnosis of DVT. Future prospective, well-designed studies with large sample sizes will be required to provide additional evidence to establish cutoff values and clinical value of these indicators.
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Neutrófilos , Trombosis de la Vena , Humanos , Linfocitos , Plaquetas , Biomarcadores , Curva ROC , Trombosis de la Vena/diagnóstico , Estudios RetrospectivosRESUMEN
Gaining insight into the two-dimensional receptor-ligand interactions, which play a significant role in various pivotal biological processes such as immune response and cancer metastasis, will deepen our understanding of numerous physiological and pathological mechanisms and contribute to biomedical applications and drug design. A central issue involved is how to measure the in situ receptor-ligand binding kinetics. Here, we review several representative mechanical-based and fluorescence-based methods, and briefly discuss the strengths and weaknesses for each method. In addition, we emphasize the great importance of the combination of experimental and computational methods in studying the receptor-ligand interactions, and further studies should focus on the synergistic development of experimental and computational methods.