Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

INTRODUCTION: Congenital sideroblastic anemias (CSAs) are a group of inherited bone-marrow disorders manifesting with erythroid hyperplasia and ineffective erythropoiesis. METHODS: We describe a detailed clinical and genetic characterization of three siblings with CSA. RESULTS: Two of them had limb-girdle myopathy and global developmental delay. The two elder siblings performed allogenic hematopoietic stem-cell transplantation 5 and 3 years prior with stabilization of the hematological features. Exome sequencing in the non-transplanted sibling revealed a novel homozygous nonsense variant in SLC25A38 gene NM_017875.2:c.559C > T; p.(Arg187*) causing autosomal-recessive sideroblastic anemia type-2, and a second homozygous pathogenic previously reported variant in GMPPB gene NM_013334.3:c.458C > T; p.(Thr153Ile) causing autosomal-recessive muscular dystrophy-dystroglycanopathy type B14. With the established diagnosis, hematopoietic stem cell transplantation is now being scheduled for the youngest sibling, and a trial therapy with acetylcholine esterase inhibitors was started for the two neurologically affected patients with partial clinical improvement. CONCLUSION: This family emphasizes the importance of whole-exome sequencing for familial cases with complex phenotypes and vague neurological manifestations.

Signal Processing Circuits and Systems for Smart Sensing Applications.

The rising demand for reliable, real-time, low-maintenance, cost-efficient monitoring systems with a high accuracy is becoming increasingly more notable in everyday life [...].

Self-powered weather station for remote areas and difficult-access locations.

Monitoring climate change can be accomplished by deploying Internet of Things (IoT) sensor devices to collect data on various climate variables. Providing continuous power or replacing batteries for these devices is not always available, particularly in difficult-access locations and harsh environments. Here, we propose a design for a self-powered weather station that can harvest energy, decode information using solar cells, and is controlled by a programmable system-on-chip. A series of experimental demonstrations have shown the versatility of the proposed design to operate autonomously.

Rapid Point-of-Care COVID-19 Diagnosis with a Gold-Nanoarchitecture-Assisted Laser-Scribed Graphene Biosensor.

The global pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus has revealed the urgent need for accurate, rapid, and affordable diagnostic tests for epidemic understanding and management by monitoring the population worldwide. Though current diagnostic methods including real-time polymerase chain reaction (RT-PCR) provide sensitive detection of SARS-CoV-2, they require relatively long processing time, equipped laboratory facilities, and highly skilled personnel. Laser-scribed graphene (LSG)-based biosensing platforms have gained enormous attention as miniaturized electrochemical systems, holding an enormous potential as point-of-care (POC) diagnostic tools. We describe here a miniaturized LSG-based electrochemical sensing scheme for coronavirus disease 2019 (COVID-19) diagnosis combined with three-dimensional (3D) gold nanostructures. This electrode was modified with the SARS-CoV-2 spike protein antibody following the proper surface modifications proved by X-ray photoelectron spectroscopy (XPS) and scanning electron microscopy (SEM) characterizations as well as electrochemical techniques. The system was integrated into a handheld POC detection system operated using a custom smartphone application, providing a user-friendly diagnostic platform due to its ease of operation, accessibility, and systematic data management. The analytical features of the electrochemical immunoassay were evaluated using the standard solution of S-protein in the range of 5.0-500 ng/mL with a detection limit of 2.9 ng/mL. A clinical study was carried out on 23 patient blood serum samples with successful COVID-19 diagnosis, compared to the commercial RT-PCR, antibody blood test, and enzyme-linked immunosorbent assay (ELISA) IgG and IgA test results. Our test provides faster results compared to commercial diagnostic tools and offers a promising alternative solution for next-generation POC applications.

Inherent Surface Activation of Laser-Scribed Graphene Decorated with Au and Ag Nanoparticles: Simultaneous Electrochemical Behavior toward Uric Acid and Dopamine.

Laser-scribed graphene electrodes (LSGEs) have attracted great attention for the development of electrochemical (bio)sensors due to their excellent electronic properties, large surface area, and high porosity, which enhances the electrons' transfer rate. An increasing active surface area and defect sites are the quickest way to amplify the electrochemical sensing attributes of the electrodes. Here, we have found that the activation procedure coupled to the electrodeposition of metal nanoparticles resulted in a significant amplification of the active area and the analytical performance. This preliminary study is supported by the demonstration of the simultaneous electrochemical sensing of dopamine (DA) and uric acid (UA) by the electrochemically activated LSGEs (LSGE*s). Furthermore, the electrodeposition of two different metal nanoparticles, gold (Au) and silver (Ag), was performed in multiple combinations on working and reference electrodes to investigate the enhancement in the electrochemical response of LSGE*s. Current enhancements of 32, 27, and 35% were observed from LSGE* with WE:Au/RE:LSG/CE:LSGE, WE:Au/RE:Au/CE:LSGE, and WE:Au/RE:Ag/CE:LSGE, compared to the same combinations of LSGEs without any surface activation. A homemade and practical potentiostat, KAUSTat, was used in these electrochemical depositions in this study. Among all of the combinations, the surface area was increased 1.6-, 2.0-, and 1.2-fold for WE:Au/RE:LSG/CE:LSGE, WE:Au/RE:Au/CE:LSGE, and WE:Au/RE:Ag/CE:LSGE prepared from LSGE*s, respectively. To evaluate the analytical performance, DA and UA were detected simultaneously in the presence of ascorbic acid. The LODs of DA and UA are calculated to be ∼0.8 and ∼0.6 µM, respectively. Hence, this study has the potential to open new insights into new surface activation strategies with a combination of one-step nanostructured metal depositions by a custom-made potentiostat. This novel strategy could be an excellent and straightforward method to enhance the electrochemical transducer sensitivity for various electrochemical sensing applications.

Organic field-effect transistor-based flexible sensors.

Flexible electronic devices have attracted a great deal of attention in recent years due to their flexibility, reduced complexity and lightweight. Such devices can conformably attach themselves to any bendable surface and can possess diverse transduction mechanisms. Consequently, with continued emphasis on innovation and development, major technological breakthroughs have been achieved in this area. This review focuses on the advancements of using organic field-effect transistors (OFETs) in flexible electronic applications in the past 10 years. In addition, to the above mentioned features, OFETs have multiple advantages such as low-cost, readout integration, large-area coverage, and power efficiency, which yield synergy. To begin with, we have introduced organic semiconductors (OSCs), followed by their applications in various device configurations and their mechanisms. Later, the use of OFETs in flexible sensor applications is detailed with multiple examples. Special attention is paid to discussing the effects induced on physical parameters of OFETs with respect to variations in external stimuli. The final section provides an outlook on the mechanical aspects of OSCs, activation and revival processes of sensory layers, small area analysis, and pattern recognition techniques for electronic devices.

Spectrometer-Free Graphene Plasmonics Based Refractive Index Sensor.

We propose a spectrometer-free refractive index sensor based on a graphene plasmonic structure. The spectrometer-free feature of the device is realized thanks to the dynamic tunability of graphene's chemical potential, through electrostatic biasing. The proposed sensor exhibits a 1566 nm/RIU sensitivity, a 250.6 RIU-1 figure of merit in the optical mode of operation and a 713.2 meV/RIU sensitivity, a 246.8 RIU-1 figure of merit in the electrical mode of operation. This performance outlines the optimized operation of this spectrometer-free sensor that simplifies its design and can bring terahertz sensing one step closer to its practical realization, with promising applications in biosensing and/or gas sensing.

Transcranial Doppler Velocities among Sickle Cell Disease Patients in Steady State.

Transcranial Doppler (TCD) screening is an established tool to identify children with sickle cell disease at high risk of stroke. Our objective was to study TCD velocities among sickle cell disease patients while in a steady state. This cross-sectional study included 78 steady state sickle cell disease patients [31 Hb SS (ßS/ßS) (sickle cell anemia), 47 Hb S/ß-thalassemia (HBB: c.20A>T/ß-thal)], attending the Pediatric Hematology Clinic at Cairo University Children's Hospital, Cairo, Egypt. All patients underwent TCD velocity assessment as per the Stroke Prevention Trial in Sickle Cell Anemia (STOP) protocol. In our cohort, TCD velocities were comparable among Hb S/ß-thal vs. SS patients. Hemolysis indicators correlated significantly to TCD velocities in Hb S/ß-thal patients; positive correlation was found between total bilirubin level and right middle cerebral artery (MCA) and right distal internal carotid artery (dICA) TCD velocities (r = 0.428, p = 0.00, r = 0.360, p = 0.01), respectively as well as between reticulocyte count and right MCA, right dICA and right anterior cerebral artery (ACA) TCD velocities (r = 0.424, p = 0.01), (r = 0.40, p = 0.00), (r = 0.303, p = 0.04), respectively. On the other hand, statistically significant negative correlations were found between hemoglobin (Hb) level and right ACA, right dICA TCD velocities (r = -0.290, p = 0.05), (r = -0.324, p = 0.03). Although Hb F is considered an ameliorating factor for disease severity; hemolysis stands as an indicator of risk for TCD velocity elevation, and in turn, risk for stroke among sickle cell disease patients.

A MXene-Based Wearable Biosensor System for High-Performance In Vitro Perspiration Analysis.

Wearable electrochemical biosensors for sweat analysis present a promising means for noninvasive biomarker monitoring. However, sweat-based sensing still poses several challenges, including easy degradation of enzymes and biomaterials with repeated testing, limited detection range and sensitivity of enzyme-based biosensors caused by oxygen deficiency in sweat, and poor shelf life of sensors using all-in-one working electrodes patterned by traditional techniques (e.g., electrodeposition and screen printing). Herein, a stretchable, wearable, and modular multifunctional biosensor is developed, incorporating a novel MXene/Prussian blue (Ti3 C2 Tx /PB) composite designed for durable and sensitive detection of biomarkers (e.g., glucose and lactate) in sweat. A unique modular design enables a simple exchange of the specific sensing electrode to target the desired analytes. Furthermore, an implemented solid-liquid-air three-phase interface design leads to superior sensor performance and stability. Typical electrochemical sensitivities of 35.3 µA mm-1 cm-2 for glucose and 11.4 µA mm-1 cm-2 for lactate are achieved using artificial sweat. During in vitro perspiration monitoring of human subjects, the physiochemistry signals (glucose and lactate level) can be measured simultaneously with high sensitivity and good repeatability. This approach represents an important step toward the realization of ultrasensitive enzymatic wearable biosensors for personalized health monitoring.

Trianglamine-Based Supramolecular Organic Framework with Permanent Intrinsic Porosity and Tunable Selectivity.

Here we introduce for the first time a metal-free trianglamine-based supramolecular organic framework, T-SOF-1, with permanent intrinsic porosity and high affinity to CO2. The capability of tuning the pore aperture dimensions is also demonstrated by molecular guest encapsulation to afford excellent CO2/CH4 separation for natural gas upgrading.

Neonatal RBC transfusions: Do benefits outweigh risks?

Preterm neonates represent one of the most transfused categories of patients. Their target hematocrits, however, are mainly based on expert opinion. The risk of transfusions are very high in the smallest preterm baby with a weak immune response, immature antioxidant ability, fragile germinal matrix and impaired cerebral autoregulation, yet red cell transfusions remain the only life saving measure in the baby with symptomatic anemia. Minimizing phlebotomy losses, following a restrictive transfusion policy and using screened, leukocyte depleted, irradiated, single donor blood remain the best means of avoiding the possible risks while maximizing the benefits of red cell transfusions in the preterm newborn.

A Comparative Study of Interdigitated Electrode and Quartz Crystal Microbalance Transduction Techniques for Metal⁻Organic Framework-Based Acetone Sensors.

We present a comparative study of two types of sensor with different transduction techniques but coated with the same sensing material to determine the effect of the transduction mechanism on the sensing performance of sensing a target analyte. For this purpose, interdigitated electrode (IDE)-based capacitors and quartz crystal microbalance (QCM)-based resonators were coated with a zeolitic⁻imidazolate framework (ZIF-8) metal⁻organic framework thin films as the sensing material and applied to the sensing of the volatile organic compound acetone. Cyclic immersion in methanolic precursor solutions technique was used for depositing the ZIF-8 thin films. The sensors were exposed to various acetone concentrations ranging from 5.3 to 26.5 vol % in N2 and characterized/compared for their sensitivity, hysteresis, long-term and short-term stability, selectivity, detection limit, and effect of temperature. Furthermore, the IDE substrates were used for resistive transduction and compared using capacitive transduction.

A Biosensor-CMOS Platform and Integrated Readout Circuit in 0.18-µm CMOS Technology for Cancer Biomarker Detection.

This paper presents a biosensor-CMOS platform for measuring the capacitive coupling of biorecognition elements. The biosensor is designed, fabricated, and tested for the detection and quantification of a protein that reveals the presence of early-stage cancer. For the first time, the spermidine/spermine N1 acetyltransferase (SSAT) enzyme has been screened and quantified on the surface of a capacitive sensor. The sensor surface is treated to immobilize antibodies, and the baseline capacitance of the biosensor is reduced by connecting an array of capacitors in series for fixed exposure area to the analyte. A large sensing area with small baseline capacitance is implemented to achieve a high sensitivity to SSAT enzyme concentrations. The sensed capacitance value is digitized by using a 12-bit highly digital successive-approximation capacitance-to-digital converter that is implemented in a 0.18 µm CMOS technology. The readout circuit operates in the near-subthreshold regime and provides power and area efficient operation. The capacitance range is 16.137 pF with a 4.5 fF absolute resolution, which adequately covers the concentrations of 10 mg/L, 5 mg/L, 2.5 mg/L, and 1.25 mg/L of the SSAT enzyme. The concentrations were selected as a pilot study, and the platform was shown to demonstrate high sensitivity for SSAT enzymes on the surface of the capacitive sensor. The tested prototype demonstrated 42.5 µS of measurement time and a total power consumption of 2.1 µW.

Bio-Inspired Carbon Monoxide Sensors with Voltage-Activated Sensitivity.

Carbon monoxide (CO) outcompetes oxygen when binding to the iron center of hemeproteins, leading to a reduction in blood oxygen level and acute poisoning. Harvesting the strong specific interaction between CO and the iron porphyrin provides a highly selective and customizable sensor. We report the development of chemiresistive sensors with voltage-activated sensitivity for the detection of CO comprising iron porphyrin and functionalized single-walled carbon nanotubes (F-SWCNTs). Modulation of the gate voltage offers a predicted extra dimension for sensing. Specifically, the sensors show a significant increase in sensitivity toward CO when negative gate voltage is applied. The dosimetric sensors are selective to ppm levels of CO and functional in air. UV/Vis spectroscopy, differential pulse voltammetry, and density functional theory reveal that the in situ reduction of FeIII to FeII enhances the interaction between the F-SWCNTs and CO. Our results illustrate a new mode of sensors wherein redox active recognition units are voltage-activated to give enhanced and highly specific responses.

A light responsive two-component supramolecular hydrogel: a sensitive platform for the fabrication of humidity sensors.

The supramolecular assembly of anionic azobenzene dicarboxylate and cationic cetyltrimethylammonium bromide (CTAB) formed a stimuli responsive hydrogel with a critical gelation concentration (CGC) of 0.33 wt%. This self-sustainable two-component system was able to repair damage upon light irradiation. Moreover, it was successfully employed in the fabrication of highly sensitive humidity sensors for the first time.

Disposable, Paper-Based, Inkjet-Printed Humidity and H2S Gas Sensor for Passive Sensing Applications.

An inkjet-printed, fully passive sensor capable of either humidity or gas sensing is presented herein. The sensor is composed of an interdigitated electrode, a customized printable gas sensitive ink and a specialized dipole antenna for wireless sensing. The interdigitated electrode printed on a paper substrate provides the base conductivity that varies during the sensing process. Aided by the porous nature of the substrate, a change in relative humidity from 18% to 88% decreases the electrode resistance from a few Mega-ohms to the kilo-ohm range. For gas sensing, an additional copper acetate-based customized ink is printed on top of the electrode, which, upon reaction with hydrogen sulphide gas (H2S) changes, both the optical and the electrical properties of the electrode. A fast response time of 3 min is achieved at room temperature for a H2S concentration of 10 ppm at a relative humidity (RH) of 45%. The passive wireless sensing is enabled through an antenna in which the inner loop takes care of conductivity changes in the 4-5 GHz band, whereas the outer-dipole arm is used for chipless identification in the 2-3 GHz band.

H2 S Sensors: Fumarate-Based fcu-MOF Thin Film Grown on a Capacitive Interdigitated Electrode.

Herein we report the fabrication of an advanced sensor for the detection of hydrogen sulfide (H2 S) at room temperature, using thin films of rare-earth metal (RE)-based metal-organic framework (MOF) with underlying fcu topology. This unique MOF-based sensor is made via the in situ growth of fumarate-based fcu-MOF (fum-fcu-MOF) thin film on a capacitive interdigitated electrode. The sensor showed a remarkable detection sensitivity for H2 S at concentrations down to 100 ppb, with the lower detection limit around 5 ppb. The fum-fcu-MOF sensor exhibits a highly desirable detection selectivity towards H2 S vs. CH4 , NO2 , H2 , and C7 H8 as well as an outstanding H2 S sensing stability as compared to other reported MOFs.

Insights on Capacitive Interdigitated Electrodes Coated with MOF Thin Films: Humidity and VOCs Sensing as a Case Study.

A prototypical metal-organic framework (MOF), a 2D periodic porous structure based on the assembly of copper ions and benzene dicarboxylate (bdc) ligands (Cu(bdc)·xH2O), was grown successfully as a thin film on interdigitated electrodes (IDEs). IDEs have been used for achieving planar CMOS-compatible low-cost capacitive sensing structures for the detection of humidity and volatile organic compounds (VOCs). Accordingly, the resultant IDEs coated with the Cu(bdc)·xH2O thin film was evaluated, for the first time, as a capacitive sensor for gas sensing applications. A fully automated setup, using LabVIEW interfaces to experiment conduction and data acquisition, was developed in order to measure the associated gas sensing performance.

Porous Laser-Scribed Graphene Electrodes Modified with Zwitterionic Moieties: A Strategy for Antibiofouling and Low-Impedance Interfaces.

Laser-scribed graphene electrodes (LSGEs) are promising platforms for the development of electrochemical biosensors for point-of-care settings and continuous monitoring and wearable applications. However, the frequent occurrence of biofouling drastically reduces the sensitivity and selectivity of these devices, hampering their sensing performance. Herein, we describe a versatile, low-impedance, and robust antibiofouling interface based on sulfobetaine-zwitterionic moieties. The interface induces the formation of a hydration layer and exerts electrostatic repulsion, protecting the electrode surface from the nonspecific adsorption of various biofouling agents. We demonstrate through electrochemical and microscopy techniques that the modified electrode exhibits outstanding antifouling properties, preserving more than 90% of the original signal after 24 h of exposure to bovine serum albumin protein, HeLa cells, and Escherichia coli bacteria. The promising performance of this antifouling strategy suggests that it is a viable option for prolonging the lifetime of LSGEs-based sensors when operating on complex biological systems.

Balancing Pd-H Interactions: Thiolate-Protected Palladium Nanoclusters for Robust and Rapid Hydrogen Gas Sensing.

The transition toward hydrogen gas (H2) as an eco-friendly and renewable energy source necessitates advanced safety technologies, particularly robust sensors for H2 leak detection and concentration monitoring. Although palladium (Pd)-based materials are preferred for their strong H2 affinity, intense palladium-hydrogen (Pd-H) interactions lead to phase transitions to palladium hydride (PdHx), compromising sensors' durability and detection speeds after multiple uses. In response, this study introduces a high-performance H2 sensor designed from thiolate-protected Pd nanoclusters (Pd8SR16), which leverages the synergistic effect between the metal and protective ligands to form an intermediate palladium-hydrogen-sulfur (Pd-H-S) state during H2 adsorption. Striking a balance, it preserves Pd-H binding affinity while preventing excessive interaction, thus lowering the energy required for H2 desorption. The dynamic adsorption-dissociation-recombination-desorption process is efficiently and highly reversible with Pd8SR16, ensuring robust and rapid H2 sensing at parts per million (ppm). The Pd8SR16-based sensor demonstrates exceptional stability (50 cycles; 0.11% standard deviation in response), prompt response/recovery (t90 = 0.95 s/6 s), low limit of detection (LoD, 1 ppm), and ambient temperature operability, ranking it among the most sensitive Pd-based H2 sensors. Furthermore, a multifunctional prototype demonstrates the practicality of real-world gas sensing using ligand-protected metal nanoclusters.