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Zinc oxide nanoparticles (ZnO NPs) with varying levels of nitrogen (N) doping were synthesized using a straightforward sol–gel approach. The morphology and microstructure of the N-doped ZnO NPs were examined through techniques such as SEM, XRD, photoluminescence, and Raman spectroscopy. The characterization revealed visible changes in the morphology and microstructure resulting from the incorporation of nitrogen into the ZnO lattice. These N-doped ZnO NPs were used in the fabrication of conductometric gas sensors designed to operate at room temperature (RT) for detecting low concentrations of NO2 in the air, under LED UV-Vis irradiation (λ = 400 nm). The influence of nitrogen doping on sensor performance was systematically studied. The findings indicate that N-doping effectively enhances ZnO-based sensors' ability to detect NO2 at RT, achieving a notable response (S = R/R0) of approximately 18 when exposed to 5 ppm of NO2. These improvements in gas-sensing capabilities are attributed to the reduction in particle size and the narrowing of the optical band gap. [ABSTRACT FROM AUTHOR]

Age-related macular degeneration (AMD) is a multifactorial disease characterized by progressive alterations of different retinal structures ultimately leading to vision loss. Among these, the choriocapillaris (CC) has been found to be affected in different stages of AMD. In this review we provide a discussion on the different stages of AMD, focusing particularly on the alterations involving the CC. This has been possible thanks to the introduction of optical coherence tomography-angiography, a recently developed imaging technique which allows the detection of blood flow in choroidal vessels. Therefore, the aim of this review is to provide a description of the various alterations involving the CC in the different stages of AMD. [ABSTRACT FROM AUTHOR]

In the present study, the development of a conductometric gas sensor based on Al,Ca-doped zinc oxide composite which is finalized to the detection of formaldehyde (HCHO) at a low concentration in air is investigated. The electrical and sensing properties of the composite based on ZnO doped with different loadings of Al and/or Ca (from 0 up to 5 at%) were evaluated. The gas-sensing mechanism of Al,Ca-doped zinc oxide nanocomposite-based sensors was also discussed. The optimized 3%Al,3%Ca-ZnO sensor displayed a formaldehyde response of 3.5 (@ 4 ppm HCHO/air) and an experimental low detection limit of 125 ppb HCHO/air, at the operating temperature of 400 °C. The sensor was also shown to be selective to HCHO with respect to many interferent indoor gases, but NO2 changed the baseline resistance in an opposite way compared to the target gas. The developed device for monitoring HCHO in indoor and workplace environments has the advantage of a simple planar structure and can be easily fabricated for mass production by using low-cost materials and easy fabrication methods. [ABSTRACT FROM AUTHOR]

The aim of this paper is to explain to young students why chemoresistive metal oxide semiconductors (MOS) gas sensors are important and widely employed in many applications. The paper deals with the fundamentals principles of these devices and their continuous improvement, due to high level of compatibility with microelectronics technology and the employment of nanostructured materials as sensing interfaces. The main operating conditions and mechanisms are also described, in order to better understand the guidelines followed to improve these devices in terms of sensing performances (sensitivity, selectivity, fast response/recovery time, repeatability, and reliability) finalized to their practical applicability. Finally, we suggest a possible brief activity on how to explore gas sensor employment and operating features in a classroom. [ABSTRACT FROM AUTHOR]

This review reports the latest achievements in point-of-care (POC) sensor technologies for the monitoring of ammonia, creatinine and urea in patients suffering of chronic kidney diseases (CKDs). Abnormal levels of these nitrogen biomarkers are found in the physiological fluids, such as blood, urine and sweat, of CKD patients. Delocalized at-home monitoring of CKD biomarkers via integration of miniaturized, portable, and low cost chemical- and bio-sensors in POC devices, is an emerging approach to improve patients' health monitoring and life quality. The successful monitoring of CKD biomarkers, performed on the different body fluids by means of sensors having strict requirements in term of size, cost, large-scale production capacity, response time and simple operation procedures for use in POC devices, is reported and discussed. [ABSTRACT FROM AUTHOR]

Abstract: Crystalline SnO2/reduced graphene oxide (RGO) nanocomposites were synthesized by a one-pot microwave-assisted non-aqueous sol–gel method, in which partially reduction of the graphene oxide and nanoparticle formation occurs simultaneously. Composite samples with different SnO2 loadings on the RGO were prepared and characterized by TEM, XRD, TGA-DSC and FT-IR. Chemoresistive devices, consisting of a thick layer of the samples synthesized on alumina substrates provided with Pt interdigitated electrodes, were fabricated and their electrical and NO2 sensing characteristics investigated. The results obtained have shown the possibility of a fine tuning of the sensing characteristics of the devices fabricated by simply controlling the amount of metal oxide nanoparticles loaded onto the reduced graphene oxide sheets. This was explained on the basis of the critical role played by the n-SnO2/p-RGO heterojunction formed on the composite materials. [Copyright &y& Elsevier]

Background The diffusion of high-performance analytical technology has opened prospects for breath diagnosis as a non-invasive diagnostic tool. In this study, ion mobility spectrometry (IMS) and cavity ring-down spectroscopy (CRDS) techniques were used to analyse ammonia gas (NH3) in real-time in breath from patients undergoing haemodialysis (HD) treatment and any correlation with blood urea nitrogen (BUN) levels and Kt/V were investigated. Methods We studied 20 patients on intermittent HD treatment. The first breath samples were taken before the start of dialysis and further breath samples were taken every hour during the treatment and after the end of the session. An evaluation was also made of 20 healthy volunteers, acting as controls [healthy subjects (HS)]. Results Breath ammonia concentrations were higher in CRDS-HD (914.5 ± 301.4 versus 280 ± 120 parts per billion (p.p.b.), P < 0.0001) and IMS-HD patients (964.4 ± 402.4 versus 280 ± 120 p.p.b., P < 0.0001) than in HS. We assessed real-time variations in the levels of NH3 and showed a continuous decrease in the levels of NH3. Expired NH3 correlated directly with BUN levels, both in the IMS-HD (P = 0.002; r = 0.84; P = 0.009; r = 0.76) and in the CRDS-HD group (P = 0.005; r = 0.80; P = 0.008; r = 0.77), respectively, both before and at the end of dialysis. A direct correlation with Kt/V was found in both groups studied (IMS-HD: P = 0.003; r = 0.82; CRDS-HD: P = 0.006; r = 0.79). Conclusions Breath monitoring of NH3 with IMS and CRDS techniques could be useful to assess the real-time clinical status of patients during HD. By using pre-dialysis ammonia values, an approximate calculation of the Kt/Vurea ratio can be established. [ABSTRACT FROM PUBLISHER]

To describe 5-year changes in the provision of Residential Facilities (RFs) in a large Italian Region and in the characteristics of their staffing and patients. 2000 census data of all RFs with >4 residential beds in the Emilia-Romagna Region were compared with 2005 census data. The number of residential beds increased from 3.1 per 10,000 inhabitants in 2000 to 4.1 per 10,000 inhabitants in 2005. The RFs operated by private non-profit associations increased at a greater rate than the number of NHS-operated facilities, and the percentage of non-qualified staff has also risen at a greater rate than that observed for qualified staff. The number of individuals with comorbid substance abuse increased from 2.1% in 2000 to 5.7% in 2005. Patient turnover rates were low in both 5-year periods. A process of new institutionalization might be taking place. Mental health care policy-makers should take these findings into account to enhance the planning of effective services, including RFs granting a satisfactory quality of life to patients with severe disorders requiring long-term, eventually unlimited care. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I-III). All patients have at least one (usually 2-4) copies of a highly homologous gene (SMN2) which produces insufficient levels of functional SMN protein, due to alternative splicing of exon7. Recently, evidence has been provided that SMN2 expression can be enhanced by different strategies. The availability of potential candidates to treat SMA has raised a number of issues, including the availability of data on the natural history of the disease, the reliability and sensitivity of outcome measures, the duration of the studies, and the number and clinical homogeneity of participating patients. Equally critical is the availability of reliable biomarkers. So far, different tools have been proposed as biomarkers in SMA, classifiable into two groups: instrumental (the Compound Motor Action Potential, the Motor Unit Number Estimation, and the Dual-energy X-ray absorptiometry) and molecular (SMN gene products dosage, either transcripts or protein). However, none of the biomarkers available so far can be considered the gold standard. Preclinical studies on SMA animal models and double-blind, placebo-controlled studies are crucial to evaluate the appropriateness of biomarkers, on the basis of correlations with clinical outcome. [ABSTRACT FROM AUTHOR]

Abstract: In2O3–SnO2 nanocrystals have been synthesized by a non-aqueous sol–gel technique with the aim to test them as sensing element in resistive gas sensors. The whole range of compositions between pure indium oxide and 100% tin oxide, was investigated. XRD, FT-IR, TEM and HRTEM analyses of the synthesized nanopowders give evidence for remarkable structural and sizing variations depending on the tin concentration. In particular, with increasing tin content the mean crystallite size decreases, from 25nm down to 1–2nm and, at content higher than 75wt%, it causes a modification of the lattice structure from cubic to tetragonal. Electrical and sensing tests in dry air have been performed on planar sensor devices in thick film configuration depositing In2O3–SnO2 nanocrystals by screen-printing. CO and C2H5OH have been tested as gas target. The results obtained are discussed in relation to the chemical and microstructural properties of the synthesized In2O3–SnO2 nanocrystals. [Copyright &y& Elsevier]

The purpose of this review is to discuss the potential role of “transcriptional therapy” to modulate the expression of target genes in order to treat monogenic as well as multifactorial disorders. In vitro and in vivo experiments with DNA demethylating and histone hyperacetylating drugs are currently performed in several laboratories on a variety of genes. In attempting to place these results into perspective, we divided the target genes into four major categories: (1) single genes with a hypermethylated CpG island; (2) single genes without a CpG island; (3) groups of genes silenced by aberrant DNA methylation; and (4) groups of genes silenced by lack of histone acetylation. We discuss the latest advances in the field of chromatin regulation and, in particular, the role of histone methylation and that of RNA interference in gene silencing. We can expect that in the future regulation of transcription will become an effective treatment for several genetic conditions. Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Purpose: To compare diabetic retinopathy screening among patients with type 1 or type 2 diabetes under care in two distinct setups: hospital-based multidisciplinary and general practice-based. Materials and methods: In this retrospective observational case series, we collected data from a total of 133 diabetic patients: subjects from the hospital-based multidisciplinary setting were referred by the diabetologist and screened by an ophthalmologist using the Optomed Aurora IQ fundus camera. These patients were compared with those who underwent DR screening arranged through a general practice-based setting. Results: The proportion of patients treated with insulin was higher in the hospital-based multidisciplinary group, both considering the totality patients and those affected by type 2 diabetes (71.6% vs. 32.2%; p < 0.001, and 58.8% vs. 31.0%; p = 0.004 respectively). Patients from the hospital-based multidisciplinary group had a longer mean diabetes duration (19.6 vs 14.9 years, p < 0.001), underwent DR screening more frequently in the previous three years (2.9 vs 1.4, p < 0.001), the mean time between two DR screenings was shorter (14.6 vs 77.9 weeks, p < 0.001), and DR was detected more frequently (32,4% vs 13.5%; p = 0.011). Conclusion: We were able to demonstrate that patients screened in the multidisciplinary center, which had characteristics predisposing to a higher risk of DR, were more likely to be diagnosed with DR on time, with a higher mean number of DR screenings and a shorted interval between diabetic and ophthalmological assessments. [ABSTRACT FROM AUTHOR]

Mo-based layered nanostructures are two-dimensional (2D) nanomaterials with outstanding characteristics and very promising electrochemical properties. These materials comprise nanosheets of molybdenum (Mo) oxides (MoO2 and MoO3), dichalcogenides (MoS2, MoSe2, MoTe2), and carbides (MoC2), which find application in electrochemical devices for energy storage and generation. In this feature paper, we present the most relevant characteristics of such Mo-based layered compounds and their use as electrode materials in electrochemical sensors. In particular, the aspects related to synthesis methods, structural and electronic characteristics, and the relevant electrochemical properties, together with applications in the specific field of electrochemical biomolecule sensing, are reviewed. The main features, along with the current status, trends, and potentialities for biomedical sensing applications, are described, highlighting the peculiar properties of Mo-based 2D-nanomaterials in this field. [ABSTRACT FROM AUTHOR]

Over the last ten years, researchers' efforts have aimed to replace the classic linear economy model with the circular economy model, favoring green chemical and industrial processes. From this point of view, biologically active molecules, coming from plants, flowers and biomass, are gaining considerable value. In this study, firstly we focus on the development of a green protocol to obtain the purification of anthocyanins from the flower of Callistemon citrinus, based on simulation and on response surface optimization methodology. After that, we utilize them to manufacture and add new properties to bioplastics belonging to class 3, based on modified polyvinyl alcohol (PVA) with increasing amounts from 0.10 to 1.00%. The new polymers are analyzed to monitor morphological changes, optical properties, mechanical properties and antioxidant and antimicrobial activities. Fourier transform infrared spectroscopy (FTIR) spectra of the new materials show the characteristic bands of the PVA alone and a modification of the band at around 1138 cm−1 and 1083 cm−1, showing an influence of the anthocyanins' addition on the sequence with crystalline and amorphous structures of the starting materials, as also shown by the results of the mechanical tests. These last showed an increase in thickening (from 29.92 μm to approx. 37 μm) and hydrophobicity with the concomitant increase in the added anthocyanins (change in wettability with water from 14° to 31°), decreasing the poor water/moisture resistance of PVA that decreases its strength and limits its application in food packaging, which makes the new materials ideal candidates for biodegradable packaging to extend the shelf-life of food. The functionalization also determines an increase in the opacity, from 2.46 to 3.42 T%/mm, the acquisition of antioxidant activity against 2,2-diphenyl-1-picrylhdrazyl and 2,2′-azino-bis-(3-ethylbenzothiazoline-6-sulfonic acid) radicals and, in the ferric reducing power assay, the antimicrobial (bactericidal) activity against different Staphylococcus aureus strains at the maximum tested concentration (1.00% of anthocyanins). On the whole, functionalization with anthocyanins results in the acquisition of new properties, making it suitable for food packaging purposes, as highlighted by a food fresh-keeping test. [ABSTRACT FROM AUTHOR]

Screen-printed electrodes (SPEs) are reliable, portable, affordable, and versatile electrochemical platforms for the real-time analytical monitoring of emerging analytes in the environmental, clinical, and agricultural fields. The aim of this study was to evaluate the electrochemical behavior of gold screen-printed electrodes (SPGEs) modified with molecules containing amino (Tr-N) or α-aminophosphonate (Tr-P) groups for the selective and sensitive detection of the toxic metal ions Pb2+ and Hg2+ in aqueous samples. After optimizing the analytical parameters (conditioning potential and time, deposition potential and time, pH and concentration of the supporting electrolyte), anodic square wave stripping voltammetry (SWASV) was used to evaluate and compare the electrochemical performance of bare or modified electrodes for the detection of Hg2+ and Pb2+, either alone or in their mixtures in the concentration range between 1 nM and 10 nM. A significative improvement in the detection ability of Pb2+ ions was recorded for the amino-functionalized gold sensor SPGE-N, while the presence of a phosphonate moiety in SPGE-P led to greater sensitivity towards Hg2+ ions. The developed sensors allow the detection of Pb2+ and Hg2+ with a limit of detection (LOD) of 0.41 nM and 35 pM, respectively, below the legal limits for these heavy metal ions in drinking water or food, while the sensitivity was 5.84 µA nM−1cm−2 and 10 µA nM−1cm−2, respectively, for Pb2+ and Hg2+. The reported results are promising for the development of advanced devices for the in situ and cost-effective monitoring of heavy metals, even in trace amounts, in water resources. [ABSTRACT FROM AUTHOR]

High-performance hydrogen sulfide (H2S) sensors are mandatory for many industrial applications. However, the development of H2S sensors still remains a challenge for researchers. In this work, we report the study of a TiO2-based conductometric sensor for H2S monitoring at low concentrations. TiO2 samples were first synthesized using the sol-gel route, annealed at different temperatures (400 and 600 °C), and thoroughly characterized to evaluate their morphological and microstructural properties. Scanning electronic microscopy, Raman scattering, X-ray diffraction, and FTIR spectroscopy have demonstrated the formation of clusters of pure anatase in the TiO2 phase. Increasing the calcination temperature to 600 °C enhanced TiO2 crystallinity and particle size (from 11 nm to 51 nm), accompanied by the transition to the rutile phase and a slight decrease in band gap (3.31 eV for 400 °C to 3.26 eV for 600 °C). Sensing tests demonstrate that TiO2 annealed at 400 °C displays good performances (sensor response Ra/Rg of ~3.3 at 2.5 ppm and fast response/recovery of 8 and 23 s, respectively) for the detection of H2S at low concentrations in air. [ABSTRACT FROM AUTHOR]

Wireless sensor elements integrated with miniaturized antennas are useful in various applications such as wearable chemical and environmental sensors and Internet-of-Things (IoT) sensor nodes. A major problem in antenna operation is detuning of the antenna bandwidth due to loading by the sensor element. In this article, we report on the integration of an interdigitated capacitor (IDC), acting as a sensor, into an aperture coupled patch (ACP) antenna, such that weak coupling is established between the IDC and the rectangular patch resonator. Because of low mutual coupling, during the sensing process the antenna is not detuned out of its operational bandwidth and its performance is not compromised by the presence of the sensor and vice versa. A sensing material (barium titanate film) is deposited on the IDC located at the edge of the microstrip line used to slot-feed the ACP antenna. A change in the material permittivity is transduced into a variation of resonant frequency of the antenna. We describe the design and fabrication of the IDC sensor-integrated ACP antenna and demonstrate the measured sensing performance at different temperatures and relative humidity concentrations. [ABSTRACT FROM AUTHOR]

In this paper, nanostructured perovskite-type Ln FeO 3 (Ln = Nd, Sm) oxides were synthesized by thermal treatment method (TTM). Characterization analysis conducted by X-ray diffraction (XRD), scanning electron microscopy (SEM) and micro-Raman spectroscopy, have confirmed the perovskite structure of the synthesized nanomaterials. To study the effects of Nd and Sm lanthanides substitution at the A-site on the chemical sensing performance, conductometric and electrochemical sensors based on the synthesized Ln FeO 3 samples were fabricated. Ln FeO 3 -based conductometric and electrochemical sensors were tested for acetone and dopamine sensing, respectively. The data revealed that Nd and Sm in the A-position lead to a significant influence in the gas sensing and electrochemical properties of perovskite Ln FeO 3 samples. In particular, it has been demonstrated the good gas sensing characteristics of SmFeO 3 for acetone gas (Response = R/R 0 = 8.3–20 ppm acetone at 200 °C), whereas NdFeO 3 displayed better performance as electrode for the electrochemical detection of dopamine reaching a low detection limit (LOD) of 270 nM at S/N = 3. The electrical and electrochemical characteristics of the perovskite Ln FeO 3 samples were discussed in detail with respect to their chemical composition and microstructure. Image 1 • Perovskite-type Ln FeO 3 (Ln = Nd, Sm) oxides were prepared by thermal treatment method. • Ln FeO 3 -based conductometric and electrochemical sensors were tested for acetone and dopamine sensing, respectively. • The data revealed that Nd and Sm in the A-position lead to a significant influence in the gas sensing. • SmFeO 3 displayed good gas sensing characteristics towards acetone. • NdFeO 3 possesses better electrochemical performances towards dopamine detection than SmFeO 3. [ABSTRACT FROM AUTHOR]

The one-pot synthesis of N-doped graphene quantum dots (GQDs), capped with a positively charged polyamine (trien), has been realized through a microwave-assisted pyrolysis on solid L-glutamic acid and trien in equimolar amounts. The resulting positively charged nanoparticles are strongly emissive in aqueous solutions and are stable for months. The interaction with the anionic tetrakis(4-sulphonatophenyl)porphyrin (TPPS4) has been investigated at neutral and mild acidic pH using a combination of UV/vis absorption spectroscopy together with static and time-resolved fluorescence emission. At pH = 7, the experimental evidence points to the formation of a supramolecular adduct mainly stabilized by electrostatic interactions. The fluorescence emission of the porphyrin is substantially quenched while GQDs remain still emissive. On decreasing the pH, protonation of TPPS4 leads to formation of porphyrin J-aggregates through the intermediacy of the charged quantum dots. [ABSTRACT FROM AUTHOR]

The article presents author's view on an article on X-linked mental retardation, published in the periodical. Commenting on the article, he describes that X-linked mental retardation is characterized by significant facial traits, short stature and mild mental delay. The article investigates whether X-linked mental retardation can be a contre type of fragile X-syndrome (FXS). He also discusses about the premature ovarian failure in females which might be related to excess of RNA.

Mitochondria are involved in multiple aspects of neurodevelopmental processes and play a major role in the pathogenetic mechanisms leading to neuro-degenerative diseases. Fragile-X-related disorders (FXDs) are genetic conditions that occur due to the dynamic expansion of CGG repeats of the FMR1 gene encoding for the RNA-binding protein FMRP, particularly expressed in the brain. This gene expansion can lead to premutation (PM, 56–200 CGGs), full mutation (FM, >200 CGGs), or unmethylated FM (UFM), resulting in neurodegeneration, neurodevelopmental disorders, or no apparent intellectual disability, respectively. To investigate the mitochondrial mechanisms that are involved in the FXD patients, we analyzed mitochondrial morphology and bioenergetics in fibroblasts derived from patients. Donut-shaped mitochondrial morphology and excessive synthesis of critical mitochondrial proteins were detected in FM, PM, and UFM cells. Analysis of mitochondrial oxidative phosphorylation in situ reveals lower respiration in PM fibroblasts. Importantly, mitochondrial permeability transition-dependent apoptosis is sensitized to reactive oxygen species in FM, PM, and UFM models. This study elucidated the mitochondrial mechanisms that are involved in the FXD phenotypes, and indicated altered mitochondrial function and morphology. Importantly, a sensitization to permeability transition and apoptosis was revealed in FXD cells. Overall, our data suggest that mitochondria are novel drug targets to relieve the FXD symptoms. [ABSTRACT FROM AUTHOR]

Defect‐engineering is a viable strategy to improve the activity of nanocatalysts for the oxygen evolution reaction (OER), whose slow kinetics still strongly limits the broad market penetration of electrochemical water splitting as a sustainable technology for large‐scale hydrogen production. High‐entropy spinel oxides (HESOs) are in focus due to their great potential as low‐cost OER electrocatalysts. In this work, electrospun HESO nanofibers (NFs), based on (Cr,Mn,Fe,Co,Ni), (Cr,Mn,Fe,Co,Zn) and (Cr,Mn,Fe,Ni,Zn) combinations, with granular architecture and oxygen‐deficient surface are produced by calcination at low temperature (600 or 500 °C), characterized by a combination of benchtop analytical techniques and evaluated as electrocatalysts for OER in alkaline medium. The variation of HESO composition and calcination temperature produces complex and interdependent changes in the morphology of the fibers, crystallinity and inversion degree of the spinel oxide, concentration of the oxygen‐vacancies, cation distribution in the lattice, which mirror on different electrochemical properties of the fibers. The best electrocatalytic performance (overpotential and Tafel slope at 10 mA cm−2: 360 mV and 41 mV dec−1, respectively) pertains to (Cr1/5Mn1/5Fe1/5Co1/5Ni1/5)3O4 NFs calcined at 500 °C and results from the lower outer 3d‐electron number, eg filling closer to its optimal value and higher occupation of 16d sites by the most redox‐active species. [ABSTRACT FROM AUTHOR]

In this paper, the determination of Thiram fungicide by a novel modified screen-printed carbon electrode (SPCE) fabricated modifying the working electrode (WE) with 2D-GO/WS2 nanohybrid composites, is reported. Scanning electron microscopy (SEM), Raman spectroscopy, and fluorescence analysis (PL) were used to reveal the morphological and microstructural characteristics of the 2D-GO/WS2 nanohybrids with different graphene oxide:tungsten disulphide (GO:WS 2) ratio. Electrochemical characterization demonstrated that the 2D-WS2/GO nanohybrids having a GO:WS 2 ratio = 2:1 shows the highest electrocatalytic activity towards oxidation of Thiram. The developed sensor permits the quantification of Thiram in the linear range 0.083-0.33 µM with a limit of detection (LOD) of 0.02 µM, which is below the legal limits for this fungicide in drinking water or foods. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?" by Maria Matilde Rodriguez, Mayrin Correa-Medina and Elizabeth E. Whittington, that was published in the previous issue.

In this paper, an easy-to-use and fast biosensor for phenylalanine quantification in patients affected by phenylketonuria is investigated. The phenylalanine concentration was indirectly estimated through the ammonia released as a by-product of an enzymatic reaction, which was then detected by exploiting an yttria-stabilized zirconia layer deposited over an interdigitated capacitive sensor. The latter was manufactured by rapid-prototyping technologies. A sensor limit of detection higher than 1.25 µM was estimated, along with an accuracy better than 18.31 µM. [ABSTRACT FROM AUTHOR]

The development of novel nanomaterials as highly efficient gas-sensing materials is envisaged as one of the most important routes in the field of gas-sensing research. However, developing stable, selective, and efficient materials for these purposes is a highly challenging task requiring numerous design attempts. In this work, a ZrO2/Co3O4 composite is reported, for the first time, as a gas-sensing material for the detection of ethanol. The sensitive and selective detection of ethanol gas at 200 °C has been demonstrated for the ZrO2/Co3O4 (0.20 wt%/0.20 wt%)-based sensor. Furthermore, the sensor showed a very low response/recovery time of 56 s and 363 s, respectively, in response to a pulse of 20 ppm of ethanol and good stability. The interesting gas-sensing property of ZrO2/Co3O4 can be ascribed to both the porous structure, which facilitates the interaction between the target gas and the sensing site, and the p–p-junction-induced built-in electric field. These results indicate that the ZrO2/Co3O4 composite can serve as a heterostructured nanomaterial for the detection of ethanol gas. [ABSTRACT FROM AUTHOR]

An introduction to a series of articles on psychiatry and neurological science is presented.

The proapoptotic protein tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is physiologically expressed by immune cells and performs regulatory functions in infections, autoimmune diseases and cancer, where it acts as a tumor suppressor. Adipose-derived mesenchymal stromal cells (AD-MSCs) also may play immunomodulatory roles in both primary and acquired immune responses. We have previously demonstrated the efficacy of an anticancer gene therapy based on AD-MSC engineered to secrete a soluble TRAIL variant (sTRAIL) against pancreatic cancer. However, the impact of AD-MSC sTRAIL on leukocyte subsets has been not yet considered also to predict a possible immunotoxicity profile in the clinical translation of this cell-based anticancer strategy. Monocytes, polymorphonuclear cells and T lymphocytes were freshly isolated from the peripheral blood of healthy donors. Immunophenotype and functional (DR4 and DR5) and decoy (DcR1 and DcR2) TRAIL receptors were tested by flow cytometry. The viability of white blood cells treated with sTRAIL released by gene-modified AD-MSC or co-cultured with AD-MSC sTRAIL was then evaluated by both metabolic assays and flow cytometry. In addition, cytokine profile in co-cultures was analyzed by multiplex enzyme-linked immunosorbent assay. Monocytes and polymorphonuclear cells showed high positivity for DR5 and DcR2, respectively, whereas T cells revealed negligible expression of all TRAIL receptors. Irrespective of TRAIL receptors' presence on the cell membrane, white blood cells were refractory to the proapoptotic effect displayed by sTRAIL secreted by gene-modified AD-MSC, and direct cell-to-cell contact with AD-MSC sTRAIL had negligible impact on T-cell and monocyte viability. Cytokine crosstalk involving interleukin 10, tumor necrosis factor alpha, and interferon gamma secreted by T lymphocytes and vascular endothelial growth factor A and interleukin 6 released by AD-MSC was highlighted in T-cell and AD-MSC sTRAIL co-cultures. In summary, this study demonstrates the immunological safety and thus the clinical feasibility of an anticancer approach based on AD-MSC expressing the proapoptotic molecule sTRAIL. [ABSTRACT FROM AUTHOR]

• A new magnetic nanoparticles of magnetite functionalized Schiff base modified nanocellulose [(pH-PDA-DANC)@Fe 3 O 4 NPs] was synthesized by an ecofriendly and a simple protocol. • The synthesized product was characterized using FTIR, XRD, SEM-EDX, and TGA analysis. • The magnetic nano-catalyst [(pH-PDA-DANC)@Fe 3 O 4 NPs] was used subsequently as a catalyst in the green and efficient procedure for one-pot multicomponent syntheses of imidazole derivatives. In the present work, a nanocellulose based magnetic nanocomposite [(pH-PDA-DANC)@Fe 3 O 4 NPs] was synthesized by an ecofriendly and a simple protocol and characterized by means of different techniques such as Fourier-transform infrared (FTIR) spectroscopy, X-ray diffraction (XRD), Thermal Gravimetric Analysis (TGA), Scanning Electron Microscopy (SEM) equipped with an Energy Dispersive X-ray (EDX) probe and the Value Stream Mapping (VSM). The theoretical study of [(pH-PDA-DANC)@Fe 3 O 4 NPs] was investigated using Density Functional Theory (DFT) at the DFT-D3/ B3LYP/LanL2DZ level of theory to explore the nature of the interactions between the (pH-PDA-DANC) ligand and magnetite nanoparticles. The results indicate that the Fe 3 O 4 nanoparticles form covalent bonds with the N-ring of the ligand. Then, it was used as a catalyst in the green and efficient procedure for one-pot multicomponent syntheses of imidazole derivatives by the condensation of benzil or 9.10-phenanthrenequinone, benzaldehyde derivatives and ammonium acetate. The catalytic reaction provided the synthesis of above imidazole derivatives with high reaction efficiency (80 %-98.1 %) in a short reaction time (3 h) and in presence of a minimum amount of ethanol. The identification and structure of imidazole derivatives was determined analyzing the 1H NMR (Nuclear Magnetic Resonance) and FTIR spectra. This procedure has several advantages compared to the conventional method such as the high yields, short reaction times, easy separation of the nanocatayst from the reaction mixture by using a magnet, and the reusability of the catalyst. [Display omitted] [ABSTRACT FROM AUTHOR]

• A new magnetic nanoparticles of magnetite functionalized Schiff base modified nanocellulose [(pH-PDA-DANC)@Fe 3 O 4 NPs] was synthesized by an ecofriendly and a simple protocol. • The synthesized product was characterized using FTIR, XRD, SEM-EDX, and TGA analysis. • The magnetic nano-catalyst [(pH-PDA-DANC)@Fe 3 O 4 NPs] was used subsequently as a catalyst in the green and efficient procedure for one-pot multicomponent syntheses of imidazole derivatives. In the present work, a nanocellulose based magnetic nanocomposite [(pH-PDA-DANC)@Fe 3 O 4 NPs] was synthesized by an ecofriendly and a simple protocol and characterized by means of different techniques such as Fourier-transform infrared (FTIR) spectroscopy, X-ray diffraction (XRD), Thermal Gravimetric Analysis (TGA), Scanning Electron Microscopy (SEM) equipped with an Energy Dispersive X-ray (EDX) probe and the Value Stream Mapping (VSM). The theoretical study of [(pH-PDA-DANC)@Fe 3 O 4 NPs] was investigated using Density Functional Theory (DFT) at the DFT-D3/ B3LYP/LanL2DZ level of theory to explore the nature of the interactions between the (pH-PDA-DANC) ligand and magnetite nanoparticles. The results indicate that the Fe 3 O 4 nanoparticles form covalent bonds with the N-ring of the ligand. Then, it was used as a catalyst in the green and efficient procedure for one-pot multicomponent syntheses of imidazole derivatives by the condensation of benzil or 9.10-phenanthrenequinone, benzaldehyde derivatives and ammonium acetate. The catalytic reaction provided the synthesis of above imidazole derivatives with high reaction efficiency (80 %-98.1 %) in a short reaction time (3 h) and in presence of a minimum amount of ethanol. The identification and structure of imidazole derivatives was determined analyzing the 1H NMR (Nuclear Magnetic Resonance) and FTIR spectra. This procedure has several advantages compared to the conventional method such as the high yields, short reaction times, easy separation of the nanocatayst from the reaction mixture by using a magnet, and the reusability of the catalyst. [Display omitted] [ABSTRACT FROM AUTHOR]

[Display omitted] • Green synthesis of AgNPs using essential oil (EO) extracted from Eucalyptus salmonophloia. • AgNPs application in the development of electrochemical sensor for DA detection. • AgNPs-based electrochemical sensors displayed high performances towards dopamine detection. In this paper, a low cost-effective and eco-friendly technique for the green synthesis of silver nanoparticles (AgNPs) using essential oil (EEO) extracted from fresh leaves of Eucalyptus salmonophloia, is described. The biosynthesized AgNPs were characterized by scanning electron microscopy (SEM), dynamic light scattering (DLS), UV–Visible spectroscopy, FT-IR and XPS analysis, to analyze the morphology and the optical properties. A modified screen-printed carbon electrode (SPCE) with AgNPs was then fabricated as an electrochemical sensor for dopamine (DA) detection, an important neurotransmitter in the human body. The proposed AgNPs/SPCE sensor showed excellent performances in terms of high sensitivity (6.656 µAµM−1cm−2), low detection limit (0.26 µM), and a high selectivity towards DA in the presence of other interferent analytes. The sensor was also applied for the determination of DA in a real sample. To the best of our knowledge, this is the first study using essential oil from E. salmonophloia as a reducing agent for the synthesis noble nanoparticles and its application to develop a simple and accurate electrochemical sensor for the detection of DA. [ABSTRACT FROM AUTHOR]

ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic features. With a few notable exceptions, general phenotypic differences related to specific ATRX protein domains are not well established and should not be used, at least at the present time, for prognostic purposes. The phenotypic spectrum and genotypic correlations are gradually broadening, mainly due to rapidly increasing accessibility to NGS. In this scenario, it is important to continue describing new patients, illustrating the mode and age of onset of the typical and non-typical features, the classical ones and those tentatively added more recently. This report of well-characterized and mostly unreported patients expands the ATR-X clinical spectrum and emphasizes the importance of better clinical delineation of the condition. We compare our findings to those of the largest ATR-X series reported so far, discussing possible explanations for the different drawn conclusions. [ABSTRACT FROM AUTHOR]

[Display omitted] • Synthesized a novel tetradentate Schiff base ligand (L). • Characterized the ligand chemical structure using IR, NMR and UV–Vis spectroscopy. • Developed a Pb2+ sensor by L-modified screen-printed carbon electrodes (SPCE). • Enhanced sensor sensitivity by adding AuNps on the L/SPCE working electrode. • Demonstrated Pb2+detection in real biological samples with the AuNps-L/SPCE sensor. In this investigation, a novel tetradentate Schiff base ligand, (ligand L) was synthesized using a simple chemical route assisted by triethylenetetramine with 4-dimethylaminocinnamaldehyde in ethanol. The chemical structure of the as-synthesized ligand was characterized using nuclear magnetic resonance (NMR) and UV–visible spectroscopy. This ligand was then employed to modify the working electrode of screen-printed carbon electrode (SPCE) for developing a modified L/SPCE sensor finalized to detection of lead ions (Pb2+). The electrochemical characteristics of the sensor were assessed by Square Wave Anodic Stripping Voltammetry technique (SWASV). To further enhance the sensitivity, gold nanoparticles (AuNps) were deposited on the surface of the working electrode for obtaining an AuNps-L/SPCE sensor. This device shows a linear response to Pb2+ until to 0.6 µM, a sensitivity of 897 µA µM−1 cm−2 and a limit of detection (LOD) of 0.38 μM. This successful strategy offers promising avenues for lead ion detection also in urine. [ABSTRACT FROM AUTHOR]

This work reports the development of an electrochemical sensor for heavy metals determination based on a graphene quantum dots/porphyrin (GQDs@TPPS) supramolecular system. GQDs@TPPS with different GQDs:TPPS ratios (ranging from 1:3–1:9 w/w) were first prepared and characterized by a series of techniques, including UV-Vis and fluorescence emission titration. These systems were used as electrode modifiers for developing modified screen-printed carbon electrode (SPCE) for the determination of heavy metal ions. The GQDs@TPPS/SPCE modified electrodes were found to be more suitable for the electro-analytical determination of Cd and Cu ions. Optimizing the GQDs:TPPS ratio, an improvement in the sensitivity, low limit of detection (LOD), and selectivity towards these two metal ions were obtained in comparison to bare/SPCE. The use of the developed GQDs@TPPS/SPCE sensors for the monitoring of Cd and Cu ions in seawater has been also demonstrated. • Graphene quantum dots/porphyrin (GQDs@TPPS) supramolecular systems were used to modify screen-printed carbon electrode (SPCE). • GCDs/SPCE sensors were tested for the determination of heavy metal ions. • GQDs@TPPS sensor showed an enhanced sensitivity to Cd and Cu ions compared to bare SPCE. [ABSTRACT FROM AUTHOR]

[Display omitted] • Synthesis and characterization of new blue-fluorescent Schiff base modified nanocellulose chemosensor Py-PDA-DANC. • Investigation of fluorescent properties for the detection of Fe2+, Fe3+, [Fe2+@HB] and [Fe3+@MHB] in semi-aqueous media. • Application of Py-PDA-DANC chemosensor for the detection of hemoglobin and methemoglobin in human plasma sample. This work has developed a new, rapid, highly sensitive, and precise approach to identify the imbalance levels of hemoglobin and methemoglobin through fluorescence emission spectroscopy. A study on a new Schiff base-modified nanocellulose (PY-PDA-DANC) applied as a fluorescent chemosensor is reported. To prepare the chemosensor, nanocellulose (NC) was first converted into 2,3-dialdehyde nanocellulose (DANC), and then modified by grafting o-phenylenediamine (PDA), followed by 1-pyrenecarboxaldehyde giving rise to the new blue-fluorescent complex PY-PDA-DANC. All the synthesized products were characterized using FTIR, 1H NMR, XRD, EDX and UV–vis spectroscopy. The fluorescence response of PY-PDA-DANC against various metal ions (Co2+, Cr3+, Cu2+, Fe2+, Fe3+, Hg2+, K+, Mg2+, Mn2+, Na+, Ni2+, Pb2+ and Zn2+) in DMSO/H 2 O media was evaluated using PL spectroscopy. The fluorescent sensor showed high and selective quenching response to both Fe2+ and Fe3+ ions with low limit of detection (LOD). PY-PDA-DANC was also successfully applied for sensing of heme–iron coordinated to hemoglobin (HB) and methemoglobin (MHB), displaying a LOD of 28.45 nM and 65.36 nM, respectively. Subsequently, it was applied for the analysis of [Fe2+@HB] and [Fe3+@MHB] in human plasma sample with good recoveries. [ABSTRACT FROM AUTHOR]

[Display omitted] • This study explores THP's potential in H 2 O 2 detection for the first time. • The developed sensor shows a low limit of detection of 144 nM. • Promising results highlight potential in biomedical diagnostics. Hydrogen peroxide (H 2 O 2) detection is paramount in biological and clinical domains due to its pivotal role in various physiological and pathological processes. This molecule is a crucial metabolite and effector in cellular redox mechanisms, influencing diverse cellular signaling pathways and bolstering the body's defense mechanisms against infection and oxidative stress. Organic molecule-based electrodes present unique advantages such as operational versatility and scalability, rendering them attractive candidates for sensor development across diverse fields encompassing food safety, healthcare, and environmental monitoring. This study explores the electrochemical properties of a tris(3-hydroxypyridin-4-one) THP, which has been unexplored in electrochemical sensing. Leveraging THP's chelating properties, we aimed to develop an electrochemical probe for hydrogen peroxide detection. Our investigations reveal promising results, with the developed sensor exhibiting a low limit of detection (LOD) of 144 nM, underscoring its potential utility in sensitive and selective H 2 O 2 detection applications. In addition, the new sensor was also tested on fetal bovine serum (FBS) to emphasize future applications on biological matrices. This research signifies a significant stride in advancing electrochemical sensor technologies for hydrogen peroxide detection with several novelties related to the usage of THP, such as high sensitivity and selectivity, performance in biological matrices, repeatability, stability, and reproducibility, economical and practical advantages. This research opens new avenues for enhanced biomedical diagnostics and therapeutic interventions. [ABSTRACT FROM AUTHOR]

[Display omitted] • SCCNT were coated by ALD with nanometric NiO films of different thickness. • SCCNT/NiO-based electrochemical sensors displayed high sensitivity to lactic acid. • The developed SCCNT/NiO sensors were suitable for the lactic acid quantification in saliva. NiO-coated stacked-cut carbon nanotubes (NiO/SCCNT) nanocomposites were synthesized via atomic layer deposition (ALD), coating the CNT core walls with a shell of NiO at different thickness varying NiO ALD cycles (0, 50, 200, and 700). The as-prepared core–shell composite nanomaterials were applied as electrode materials for modifying screen-printed carbon electrodes (SPCE) for the non-enzymatic electrochemical detection of lactate (LA). Electrochemical tests performed by CV and EIS demonstrated the reduced charge transfer resistance in NiO(x)/CNT-SPCE compared to pristine CNT-SPCE configuration, and the pronounced dependence of electrochemical behavior on NiO coating thickness. Notably, the NiO/CNT composite with 200 ALD cycles exhibited superior electrochemical properties for the electrooxidation of lactate. The developed sensor showed high sensitivity to LA, (138.44 µA mM−1 cm−2 in the 0–4 mM range). The limit of detection (LOD) values stood at 0.067 mM (considering the signal-to-noise ratio of S/N=3). The sensor showcased several advantages including a conductive supporting carbon material, impressive sensitivity, selectivity, stability, and reproducibility, thereby enabling rapid and precise lactate quantification in salivary real samples. [ABSTRACT FROM AUTHOR]

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2. We report an FGFR2 gene variant in a mother and daughter who present with different clinical features of Crouzon syndrome. The daughter is more severely affected than her mother, as also verified by a careful study of the face and oral cavity. The c.1032G>A transition in exon 8, already reported as a synonymous p.Ala344 = variant in Crouzon patients, also activates a new donor splice site leading to the loss of 51 nucleotides and the in-frame removal of 17 amino acids. We observed lower FGFR2 transcriptional and translational levels in the daughter compared to the mother and healthy controls. A preliminary functional assay and a molecular modeling added further details to explain the discordant phenotype of the two patients. [ABSTRACT FROM AUTHOR]

Rationale: Fragile X syndrome (FXS) is considered the leading inherited cause of intellectual disability and autism. In FXS, the fragile X mental retardation 1 ( FMR1) gene is silenced and the fragile X mental retardation protein (FMRP) is not expressed, resulting in the characteristic features of the syndrome. Despite recent advances in understanding the pathophysiology of FXS, there is still no cure for this condition; current treatment is symptomatic. Preclinical research is essential in the development of potential therapeutic agents. Objectives: This review provides an overview of the preclinical evidence supporting metabotropic glutamate receptor 5 (mGluR5) antagonists as therapeutic agents for FXS. Results: According to the mGluR theory of FXS, the absence of FMRP leads to enhanced glutamatergic signaling via mGluR5, which leads to increased protein synthesis and defects in synaptic plasticity including enhanced long-term depression. As such, efforts to develop agents that target the underlying pathophysiology of FXS have focused on mGluR5 modulation. Animal models, particularly the Fmr1 knockout mouse model, have become invaluable in exploring therapeutic approaches on an electrophysiological, behavioral, biochemical, and neuroanatomical level. Two direct approaches are currently being investigated for FXS treatment: reactivating the FMR1 gene and compensating for the lack of FMRP. The latter approach has yielded promising results, with mGluR5 antagonists showing efficacy in clinical trials. Conclusions: Targeting mGluR5 is a valid approach for the development of therapeutic agents that target the underlying pathophysiology of FXS. Several compounds are currently in development, with encouraging results. [ABSTRACT FROM AUTHOR]

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families. [ABSTRACT FROM AUTHOR]

Mutations in GJB2 gene are the most common cause of genetic deafness. More than 100 mutations have been described. The aim of this work is to describe the personal experience in genetic hearing loss, investigating the audiological and genetical characteristics of Cx26 deafness and correlating genotype and phenotype. We performed audiological and genetical evaluation in 154 patients affected by non-syndromic deafness of different degree. All patients showed a bilateral symmetrical sensorineural hearing loss. From the genetical analysis 127 probands resulted as negatives while 27 as positives (51.8% homozygous for 35 delG, 14.8% compound heterozygosis and 33.3% single mutation); 7.5% of patients had a mild deafness, 37% moderate, 33.3% severe and 22.2% profound. The c.35 delG mutation was detected in 66.6% of patients. Three mutations were found in compound heterozygosis with 35 delG, six different single mutations already described, and a new mutation S138G were also found. Correlation between genotype and phenotype confirmed the high variability of hearing loss. [ABSTRACT FROM AUTHOR]

After legislative changes in 1978, Italian psychiatry underwent a thorough overhaul, with the gradual closure of all Mental Hospitals. A nation-wide network of Departments of Mental Health now deliver outpatient and inpatient care, but also run semi-residential and residential facilities (the latter with 2.9 beds per 10,000 inhabitants). Hospital care is delivered through small psychiatric units (with no more than 15 beds). There are also many private inpatient facilities operating in Italy, and the number of private inpatient beds per 10,000 inhabitants exceeds the number of public beds; overall there are 1.7 acute beds per 10,000 inhabitants—one of Europe’s currently lowest numbers. There is marked quanti- and qualitative variation in the provision of out- and inpatient care throughout the country, and service utilization patterns are similarly uneven. Studies examining quality of life report a fairly high degree of patient satisfaction, whereas patients’ families frequently bear a heavy burden. In conclusion, the Italian reform law led to the establishment of a broad network of facilities to meet diverse care needs. Further efforts are required to improve quality of care and to develop a more effectively integrated system. Greater attention must be paid to topics such as quality of care and outcomes, public and private sector balance, and the coordination of various resources and agencies. [ABSTRACT FROM AUTHOR]

Missense changes constitute approximately 1/3 and 1/5 of all rare sequence constitutional variations identified in the MLH1 and MSH2 genes by mutation screening. They represent a challenge for the clinician and for the genetic counselor, who often cannot use them for the management of Lynch syndrome families. Several parameters can be evaluated to gain insight into the significance of such unclassified variants (UVs). These include analysis of microsatellite instability (MSI), immunohistochemistry of mismatch repair (MMR) proteins, segregation data, frequency of the variants in control samples, presence of other pathogenic mutations, and functional and mRNA analyses. While none of these variables can be used alone to predict the significance of UVs in a single case, combined evaluation can lead to clinically useful conclusions. This review reports available information on a sample of MLH1 and MSH2 missense UVs, for which MSI and immunohistochemical data could be retrieved from the literature. Currently, since MSI analysis is routinely performed as a diagnostic test for Lynch syndrome, tumor MSI status represents the most important factor for determining the pathogenicity of UVs in MMR genes. [ABSTRACT FROM AUTHOR]

Transition of young people from Child and Adolescent Mental Health Services (CAMHS) to Adult Mental Health Services (AMHS) is a complex process. Transition rates are heterogeneously reported, with wide definitions and ranges. Few data are available regarding predictive factors of a successful transition. We explored factors associated with transition in a cohort of former inpatients of a Children and Adolescents Intensive Treatment Ward (CAITW). Socio-demographic and clinical features of patients previously admitted to CAITW were matched to AMHS data for those patients having reached age requirements. We built multiple logistic regression models to identify factors associated with transfer to AMHS (either inpatient or outpatient) and with successful retention in treatment (RIT) at six (short RIT), 12 (intermediate RIT) and 24 months after transfer (long RIT). From a cohort of 322 inpatients, 126 reached the age threshold for transfer to AMHS in the study period. The transfer rate was 50%. Two years after transition-age boundary, CAMHS-AMHS continuity of care was found in 40% and disengagement in 6% of cases. Longer and multiple hospitalizations, atypical antipsychotics prescription and a diagnosis of psychotic disorders were factors associated with short and intermediate RIT. A positive psychiatric family history was negatively associated with successful short and intermediate RIT. Diagnosis of psychosis and learning-supported school attendance were associated with long RIT. Young adults with a history of psychiatric inpatient admission as children or adolescents have a relatively high rate of transition to AMHS. A diagnosis of psychosis seems to be the strongest predictor for transition in these patients. Further research should focus on patients' schooling needs and on children of parents with mental health problems to enhance family and educational system engagement. [ABSTRACT FROM AUTHOR]

A novel electrochemical sensor for the determination of nitrites based on the modified screen‐printed electrode (SPCE) by Zn‐bidentate Schiff base complexes (ZnLX2) is presented. ZnLX2 complexes have been synthesized and characterized using several morphological and microstructural techniques such as scanning electron microscopy (SEM), X‐ray powder diffraction (XRD), and fourier transformed‐infrared (FT‐IR) spectroscopy. Cyclic voltammetry (CVs) proved the good electrochemical performances of the ZnLX2/SPCE for nitrite ions determination. The influence of pH, scan rate, nitrite concentration, and interfering ions was investigated. After optimization of the operating parameters, the developed ZnLX2/SPCE sensor displayed two linear relationships between response current and nitrite concentration in the overall range 2–4838 μM and a lower detection limit estimated to be 0.78 μM based on 3σ/m. Finally, the analytical application of the developed sensor was evaluated to quantify nitrite in a real sample of mineral water. Results obtained demonstrate that the ZnLX2/SPCE electrochemical sensor provided an effective tool for the detection of nitrite ions. [ABSTRACT FROM AUTHOR]

X-linked mental retardation (XLMR) is a heterogenous set of conditions responsible for a large proportion of inherited mental retardation. Approximately 200 XLMR conditions and 45 cloned genes are now listed in our catalogue on the Internet at http://xlmr.interfree.it/home.htm. Traditionally, XLMR conditions were subdivided into specific (MRXS) and nonspecific (MRX) forms, depending on their clinical presentation. Now that a growing number of candidate genes have become available for screening XLMR families and patients, this distinction is becoming less useful and similar conditions that had been previously listed as separate can now be grouped together because different mutations in the same gene have been identified. Furthermore, different mutations in the same XLMR gene may account for diseases of increasing severity, but can also cause different phenotypes. As the functions of proteins corresponding to these genes are characterized, biological networks involved in causing mental retardation and conversely in supporting normal intellectual functioning will be discovered. Molecular biologists and neurobiologists will need to cooperate in order to verify the effects of XLMR gene mutations in the context of neuronal circuitry. Eventually, DNA and protein microarray technologies will assist researchers and physicians in reaching a diagnosis even in small families or in individual patients with XLMR. [ABSTRACT FROM AUTHOR]

This is the sixth edition of the catalogue of XLMR genes, ie X-linked genes whose malfunctioning causes mental retardation. The cloning era is not yet concluded, actually much remains to be done to account for the 202 XLMR conditions listed in this update. Many of these may eventually prove to be due to mutations in the same gene but the present number of 33 cloned genes falls surely short of the actual total count. It is now clear that even small families or individual patients with cytogenetic rearrangements can be instrumental in pinning down the remaining genes. DNA chip technology will hopefully allow (re)screening large numbers of patients for mutations in candidate genes or testing the expression levels of many candidate genes in informative families. Slowly, our knowledge of the structure and functioning of the proteins encoded by these genes is beginning to cast some light on the biological pathways required for the normal development of intelligence. Correlations between the molecular defects and the phenotypic manifestations are also being established. In order to facilitate the exchange of existing information and to allow its timely update, we prepared the first edition of the XLMR database (available at http://homepages.go.com/∼xlmr/home.htm) and invite all colleagues, expert in the field, to contribute with their experience. [ABSTRACT FROM AUTHOR]

In this study, a novel electrochemical sensor was developed for the quantitative determination of riboflavin. The tungsten disulfide (WS2) layer was deposited on carbon nanotubes (CNTs) by atomic layer deposition (ALD), forming a CNTs-WS2 core–shell heterostructure. This material was used to modify the commercial screen-printed carbon electrode in order to enhance its electrocatalytic activity toward the detection of vitamin B2. Cyclic voltammetry was performed as a preliminary test in the presence of riboflavin. In addition to this, an extensive electrochemical study was performed using differential pulse voltammetry, demonstrating that modified the CNTs-WS2/SPCE sensor display superior electrochemical performance compared with bare SPCE. The sensor exhibits a linear response in the concentration range from 0 µM to 45 µM, with remarkably enhanced sensitivity (9 μAμM−1cm−2) compared with the bare electrode, with a limit of detection (LOD) of 1.24 µM. This enhancement is attributed to the conformal growth of the WS2 flakes on the CNTs and the high surface area offered by these flakes. [ABSTRACT FROM AUTHOR]