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Nanoplastic pollution, the final product of plastic waste fragmentation in the environment, represents an increasing concern for the scientific community due to the easier diffusion and higher hazard associated with their small sizes. Therefore, there is a pressing demand for effective strategies to quantify and remove nanoplastics in wastewater. This work presents the "on-the-fly" capture of nanoplastics in the three-dimensional (3D) space by multifunctional MXene-derived oxide microrobots and their further detection. A thermal annealing process is used to convert Ti 3 C 2 T x MXene into photocatalytic multi-layered TiO 2 , followed by the deposition of a Pt layer and the decoration with magnetic γ-Fe 2 O 3 nanoparticles. The MXene-derived γ-Fe 2 O 3 /Pt/TiO 2 microrobots show negative photogravitaxis, resulting in a powerful fuel-free motion with six degrees of freedom under light irradiation. Owing to the unique combination of self-propulsion and programmable Zeta potential, the microrobots can quickly attract and trap nanoplastics on their surface, including the slits between multi-layer stacks, allowing their magnetic collection. Utilized as self-motile preconcentration platforms, they enable nanoplastics' electrochemical detection using low-cost and portable electrodes. This proof-of-concept study paves the way toward the "on-site" screening of nanoplastics in water and its successive remediation., (© 2022. The Author(s).)

The extracellular matrix is an important regulator of cell function. Environmental cues existing in the cellular microenvironment, such as ligand distribution and tissue geometry, have been increasingly shown to play critical roles in governing cell phenotype and behavior. However, these environmental cues and their effects on cells are often studied separately using in vitro platforms that isolate individual cues, a strategy that heavily oversimplifies the complex in vivo situation of multiple cues. Engineering approaches can be particularly useful to bridge this gap, by developing experimental setups that capture the complexity of the in vivo microenvironment, yet retain the degree of precision and manipulability of in vitro systems. This study highlights an approach combining ultraviolet (UV)-based protein patterning and lithography-based substrate microfabrication, which together enable high-throughput investigation into cell behaviors in multicue environments. By means of maskless UV-photopatterning, it is possible to create complex, adhesive protein distributions on three-dimensional (3D) cell culture substrates on chips that contain a variety of well-defined geometrical cues. The proposed technique can be employed for culture substrates made from different polymeric materials and combined with adhesive patterned areas of a broad range of proteins. With this approach, single cells, as well as monolayers, can be subjected to combinations of geometrical cues and contact guidance cues presented by the patterned substrates. Systematic research using combinations of chip materials, protein patterns, and cell types can thus provide fundamental insights into cellular responses to multicue environments.

Titanium miniplates are biocompatible materials used in modern oral and maxillofacial surgery to treat facial bone fractures. However, plate removal is often required due to implant complications. Among them, a biofilm formation on an infected miniplate is associated with severe inflammation, which frequently results in implant failure. In light of this, new strategies to control or treat oral bacterial biofilm are of high interest. Herein, the authors exploit the ability of nanorobots against multispecies bacterial biofilm grown onto facial commercial titanium miniplate implants to simulate pathogenic conditions of the oral microenvironment. The strategy is based on the use of light-driven self-propelled tubular black-TiO 2 /Ag nanorobots, that unlike traditional ones, exhibit an extended absorption and motion actuation from UV to the visible-light range. The motion analysis is performed separately over UV, blue, and green light irradiation and shows different motion behaviors, including a fast rotational motion that decreases with increasing wavelengths. The biomass reduction is monitored by evaluating LIVE/DEAD fluorescent and digital microscope images of bacterial biofilm treated with the nanorobots under motion/no-motion conditions. The current study and the obtained results can bring significant improvements for effective therapy of infected metallic miniplates by biofilm., (© 2022 Wiley-VCH GmbH.)

Nature presents the collective behavior of living organisms aiming to accomplish complex tasks, inspiring the development of cooperative micro/nanorobots. Herein, the spontaneous assembly of hematite-based microrobots with different shapes is presented. Autonomous motile light-driven hematite/Pt microrobots with cubic and walnut-like shapes are prepared by hydrothermal synthesis, followed by the deposition of a Pt layer to design Janus structures. Both microrobots show a fuel-free motion ability under light irradiation. Because of the asymmetric orientation of the magnetic dipole moment in the crystal, cubic hematite/Pt microrobots can self-assemble into ordered microchains, contrary to the random aggregation observed for walnut-like microrobots. The microchains exhibit different synchronized motions under light irradiation depending on the mutual orientation of the individual microrobots during the assembly, which allows them to accomplish multiple tasks, including capturing, picking up, and transporting microscale objects, such as yeast cells and suspended matter in water extracted from personal care products, as well as degrading polymeric materials. Such light-powered self-assembled microchains demonstrate an innovative cooperative behavior for small-scale multitasking artificial robotic systems, holding great potential toward cargo capture, transport, and delivery, and wastewater remediation.

Herein, a general procedure for the synthesis of multifunctional MRs, which simultaneously exhibit i) chiral, ii) magnetic, and iii) fluorescent properties in combination with iv) self-propulsion, is reported. Self-propelled Ni@Pt superparamagnetic microrockets have been functionalized with fluorescent CdS quantum dots carrying a chiral host biomolecule as β-cyclodextrin (β-CD). The "on-the-fly" chiral recognition potential of MRs has been interrogated by taking advantage of the β-CD affinity to supramolecularly accommodate different chiral biomolecules (i.e., amino acids). As a proof-of-concept, tryptophan enantiomers have been discriminated with a dual-mode (optical and electrochemical) readout. This approach paves the way to devise intelligent cargo micromachines with "built-in" chiral supramolecular recognition capabilities to elucidate the concept of "enantiorecognition-on-the-fly", which might be facilely customized by tailoring the supramolecular host-guest encapsulation., (© 2022 The Authors. Angewandte Chemie International Edition published by Wiley-VCH GmbH.)

Background/aim: NEAT is a validated prognostic model that calculates survival estimates based on the number of active tumors, ECOG performance status, albumin, and primary tumor site. Since models are imperfect, we hypothesized that experienced clinicians could predict the survival of patients with metastatic cancer better than a validated prognostic model alone, thereby quantifying the previously unmeasured value of clinical judgment., Patients and Methods: This prospective, single-institution cohort study conducted at a large community hospital recruited 73 patients with metastatic cancer referred to radiation oncology between October 2016 and December 2017. The consulting nurse and physician were prospectively surveyed on whether the patient would survive a longer or shorter duration than the calculated NEAT survival estimates. The accuracy of predictions between groups was assessed using the McNemar's chi-squared test., Results: The median survival for enrolled patients was 9.2 months. Nursing and physician predictions were similarly accurate (61.6% vs. 60.3%, p=0.85). The accuracy of confident clinical predictions was similar to less confident predictions (64.2% vs. 58.2%, p=0.46). Radiation dose intensity was informed by predicted survival, and median survival was significantly higher in patients receiving an EQD2≥40 (17 months vs. 2 months, p<0.001)., Conclusion: Experienced clinicians, both nurses and oncologists, have insight that modestly supplements the accuracy of a validated model to predict survival in patients with advanced cancer., (Copyright © 2022 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

The low efficiency of water electrolysis mostly arises from the thermodynamic uphill oxygen evolution reaction. The efficiency can be greatly improved by rationally designing low-cost and efficient oxygen evolution anode materials. Herein, we report the synthesis of Ni-P alloys adopting a facile electroless plating method under mild conditions on nickel substrates. The relationship between the Ni-P properties and catalytic activity allowed us to define the best conditions for the electroless synthesis of highperformance Ni-P catalysts. Indeed, the electrochemical investigations indicated an increased catalytic response by reducing the thickness and Ni/P ratio in the alloy. Furthermore, the Ni-P catalysts with optimized size and composition deposited on Ni foam exposed more active sites for the oxygen evolution reaction, yielding a current density of 10 mA cm -2 at an overpotential as low as 335 mV, exhibiting charge transfer resistances of only a few ohms and a remarkable turnover frequency (TOF) value of 0.62 s -1 at 350 mV. The present study provides an advancement in the control of the electroless synthetic approach for the design and large-scale application of high-performance metal phosphide catalysts for electrochemical water splitting.

Miniaturized energy storage devices are essential to power the growing number and variety of microelectronic technologies. Here, a concept of self-propelled microscale energy storage elements that can move, reach, and power electronic circuits is reported. Microrockets consisting of a nickel sulfide (NiS) outer layer and a Pt inner layer are prepared by template-assisted electrodeposition, and designed to store energy through NiS-mediated redox reactions and propel via the Pt-catalyzed decomposition of H 2 O 2 fuel. Scanning electrochemical microscopy allows visualizing and studying the energy storage ability of a single microrocket, revealing its pseudocapacitive nature. This proves the great potential of such technique in the field of micro/nanomotors. On-demand delivery of energy storage units to electronic circuits has been demonstrated by releasing microrockets on an interdigitated array electrode as an example of electronic circuit. Owing to their self-propulsion ability, they reach the active area of the electrode and, in principle, power its functions. These autonomously moving energy storage devices will be employed for next-generation electronics to store and deliver energy in previously inaccessible locations., (© 2021 Wiley-VCH GmbH.)

Self-powered micromachines are considered a ground-breaking technology for environmental remediation. Light-powered Janus microrobots based on photocatalytic semiconductors asymmetrically covered with metals have recently received great interest as they can exploit light to move and contemporarily degrade pollutants in water. Although various metals have been explored and compared to design Janus microrobots, the influence of the metal layer thickness on motion behavior and photocatalytic properties of microrobots have not been investigated yet. Here, light-driven hematite/Pt Janus microrobots are reported and fabricated by depositing Pt layers with different thickness on hematite microspheres produced by hydrothermal synthesis. It has been demonstrated that the thicker the metal layer the higher the microrobots speed. However, when employed for the degradation of nitroaromatic explosives pollutants through the photo-Fenton mechanism, higher rate of H 2 O 2 consumption leads to higher propulsion speed of microrobots and lower pollutants degradation efficiencies owing to less H 2 O 2 involved in the photo-Fenton reaction. This work presents new insights into the motion behavior of light-powered Janus micromotors and demonstrates that high speed is not what really matters for water purification via photo-Fenton reaction, which is important for the future environmental applications of micromachines., (© 2021 Wiley-VCH GmbH.)

We report long-term alterations of anterior corneal stroma after excimer laser surface ablation for a high astigmatism. The patient claimed progressive visual loss in his right eye (RE) during the last 3 years after bilateral laser-assisted subepithelial keratectomy (LASEK) surgery. His examination comprised visual acuity (UDVA and CDVA), slit-lamp examination, corneal topography and tomography, AS-OCT, and confocal microscopy. The UDVA was 0.1 in his RE and 1.0 in the left eye. The CDVA in the RE was 0.8. The slit-lamp examination showed a stromal lesion in the inferior paracentral corneal zone, with multiple vertical tissue bridges and severe thinning. Corneal topography and tomography showed central flattening with inferior steepening and severe alteration in elevation maps. AS-OCT showed void areas in the anterior stroma with thinning of the underlying tissue, and confocal images were not specific. In this case, progressive corneal steepening and thinning that manifest topographically as inferior ectasia occurred in correspondence to the singular stromal alterations after LASEK., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2021 by S. Karger AG, Basel.)

Gas sensor technology is widely utilized in various areas ranging from home security, environment and air pollution, to industrial production. It also hold great promise in non-invasive exhaled breath detection and an essential device in future internet of things. The past decade has witnessed giant advance in both fundamental research and industrial development of gas sensors, yet current efforts are being explored to achieve better selectivity, higher sensitivity and lower power consumption. The sensing layer in gas sensors have attracted dominant attention in the past research. In addition to the conventional metal oxide semiconductors, emerging nanocomposites and graphene-like two-dimensional materials also have drawn considerable research interest. This inspires us to organize this comprehensive 2020 gas sensing materials roadmap to discuss the current status, state-of-the-art progress, and present and future challenges in various materials that is potentially useful for gas sensors., (© 2021 IOP Publishing Ltd.)

Background: Eliminating mother-to-child HIV-transmission (EMTCT) implies a case rate target of new pediatric HIV-infections< 50/100,000 live-births and a transmission rate < 5%. We assessed these indicators at community-level in Mozambique, where MTCT is the second highest globally.., Methods: A cross-sectional household survey was conducted within the Manhiça Health Demographic Surveillance System in Mozambique (October 2017-April 2018). Live births in the previous 4 years were randomly selected, and mother/child HIV-status was ascertained through documentation or age-appropriate testing. Estimates on prevalence and transmission were adjusted by multiple imputation chained equation (MICE) for participants with missing HIV-status. Retrospective cumulative mortality rate and risk factors were estimate by Fine-Gray model., Results: Among 5000 selected mother-child pairs, 3486 consented participate. Community HIV-prevalence estimate in mothers after MICE adjustment was 37.6% (95%CI:35.8-39.4%). Estimates doubled in adolescents aged < 19 years (from 8.0 to 19.1%) and increased 1.5-times in mothers aged < 25 years. Overall adjusted vertical HIV-transmission at the time of the study were 4.4% (95% CI:3.1-5.7%) in HIV-exposed children (HEC). Pediatric case rate-infection was estimated at 1654/100,000 live-births. Testing coverage in HEC was close to 96.0%; however, only 69.1% of them were tested early(< 2 months of age). Cumulative child mortality rate was 41.6/1000 live-births. HIV-positive status and later birth order were significantly associated with death. Neonatal complications, HIV and pneumonia were main pediatric causes of death., Conclusions: In Mozambique, SPECTRUM modeling estimated 15% MTCT, higher than our district-level community-based estimates of MTCT among HIV-exposed children. Community-based subnational assessments of progress towards EMTCT are needed to complement clinic-based and modeling estimates.

Objective: Symptomatic uncomplicated diverticular disease of the colon (SUDD) is generally managed by gastroenterologists rather than General Practitioners (GPs). The aim of this study was to assess the efficacy of the treatment of SUDD with rifaximin, a non-absorbable antibiotic, in a primary care setting by GPs., Patients and Methods: This retrospective, observational study investigated the use of rifaximin at a dose of 400 mg b.i.d. for 5, 7 or 10 days monthly, up to 3 months. The symptoms were reported by the patients using a visual analogic scale (VAS) of 0-10., Results: 286 SUDD patients were enrolled (44.4% of men, average age 70.92±10.98). Respectively, 15 (5.2%) patients received the treatment for 5 days, 205 (71.7%) for 7 days and 66 (23.1%) for 10 days. After three months, a significant reduction of VAS score was observed in almost all symptoms assessed: 135 (47.2%) patients reported no abdominal pain (p<0.001) and 23 (8.1%) reported no symptom. Adverse events related to the treatment were recorded in 3 (1.04%) patients, all of them mild and not requiring interruption of the treatment. Acute diverticulitis occurred in 9 (3.1%) patients, but only 2 of them [0.7% (n=2)] underwent surgery due to complicated diverticulitis. Analysis within the different treatment groups (5, 7 and 10 days) shows that rifaximin treatment is effective in reducing the severity of symptoms in almost all groups except for the constipation in the 5-day group., Conclusions: Rifaximin can be effectively used by GPs in real-life for the management of SUDD.

Fibroblasts are cells present throughout the human body that are primarily responsible for the production and maintenance of the extracellular matrix (ECM) within the tissues. They have the capability to modify the mechanical properties of the ECM within the tissue and transition into myofibroblasts, a cell type that is associated with the development of fibrotic tissue through an acute increase of cell density and protein deposition. This transition from fibroblast to myofibroblast-a well-known cellular hallmark of the pathological state of tissues-and the environmental stimuli that can induce this transition have received a lot of attention, for example in the contexts of asthma and cardiac fibrosis. Recent efforts in understanding how cells sense their physical environment at the micro- and nano-scales have ushered in a new appreciation that the substrates on which the cells adhere provide not only passive influence, but also active stimulus that can affect fibroblast activation. These studies suggest that mechanical interactions at the cell-substrate interface play a key role in regulating this phenotype transition by changing the mechanical and morphological properties of the cells. Here, we briefly summarize the reported chemical and physical cues regulating fibroblast phenotype. We then argue that a better understanding of how cells mechanically interact with the substrate (mechanosensing) and how this influences cell behaviors (mechanotransduction) using well-defined platforms that decouple the physical stimuli from the chemical ones can provide a powerful tool to control the balance between physiological tissue regeneration and pathological fibrotic response., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2020 D'Urso and Kurniawan.)

Nanostructured electrodes detecting bacteria or viruses through DNA hybridization represent a promising method, which may be useful in on-field applications where PCR-based methods are very expensive, time-consuming, and require trained personnel. Indeed, electrochemical sensors combine disposability, fast response, high sensitivity, and portability. Here, a low-cost and high-surface-area electrode, based on Au-decorated NiO nanowalls, demonstrates a highly sensitive PCR-free detection of a real sample of Mycoplasma agalactiae (Ma) DNA. NiO nanowalls, synthesized by aqueous methods, thermal annealing, and Au decoration, by electroless deposition, ensure a high-surface-area platform for successful immobilization of Ma thiolated probe DNA. The morphological, chemical, and electrochemical properties of the electrode were characterized, and a reproducible detection of synthetic Ma DNA was observed and investigated by impedance measurements. Electrochemical impedance spectroscopy (EIS) ascribed the origin of impedance signal to the Ma DNA hybridization with its probe immobilized onto the electrode. The electrode successfully discriminates between DNA extracted from healthy and infected sheep milk, showing the ability to detect Ma DNA in concentrations as low as 53 ± 2 copy number μL -1 . The Au-decorated NiO nanowall electrode represents a promising route toward PCR-free, disposable, rapid, and molecular detection.

Decoration of nanostructures is a promising way of improving performances of nanomaterials. In particular, decoration with Au nanoparticles is considerably efficient in sensing and catalysis applications. Here, the mechanism of decoration with Au nanoparticles by means of low-cost electroless deposition (ELD) is investigated on different substrates, demonstrating largely different outcomes. ELD solution with Au potassium cyanide and sodium hypophosphite, at constant temperature (80 °C) and pH (7.5), is used to decorate by immersion metal (Ni) or semiconductor (Si, NiO) substrates, as well as NiO nanowalls. All substrates were pre-treated with a hydrazine hydrate bath. Scanning electron microscopy and Rutherford backscattering spectrometry were used to quantitatively analyze the amount, shape and size of deposited Au. Au nanoparticle decoration by ELD is greatly affected by the substrates, leading to a fast film deposition onto metallic substrate, or to a slow cluster (50-200 nm sized) formation on semiconducting substrate. Size and density of resulting Au clusters strongly depend on substrate material and morphology. Au ELD is shown to proceed through a galvanic displacement on Ni substrate, and it can be modeled with a local cell mechanism widely affected by the substrate conductivity at surface. These data are presented and discussed, allowing for cheap and reproducible Au nanoparticle decoration on several substrates.

There is a huge demand for rapid, reliable and low-cost methods for the analysis of heavy metals in drinking water, particularly in the range of sub-part per billion (ppb). In the present work, we describe the preparation, characterization and analytical performance of the disposable sensor to be employed in Square Wave Anodic Stripping Voltammetry (SWASV) for ultra-trace simultaneous determination of cadmium and lead. The electrode consists of graphene paper-perfluorosulfonic ionomer-bismuth nano-composite material. The electrode preparation implies a key step aimed to enhance the Bi 3+ adsorption into nafion film, prior to the bismuth electro-deposition. Finely dispersed bismuth nanoparticles embedded in the ionomer film are obtained. The electrode was characterized by Scanning Electron Microscopy (SEM), Energy Dispersive X-ray Spectroscopy (EDX), Atomic Force Microscopy (AFM), X-ray Photoelectron Spectroscopy (XPS) and Electrochemical Impedance Spectroscopy (EIS). The electrode shows a linear response in the 5-100 ppb range, a time-stability tested up to almost three months, and detection limits up to 0.1 ppb for both Pb 2+ and Cd 2+ . The electrode preparation method is simple and low in cost and the obtained analytical performance is very competitive with the state of art for the SWASV determination of Pb 2+ and Cd 2+ in solution.

A novel metal organic framework (MOF)-based composite was synthesized on a Cu substrate via a two-step route. An amorphous iron oxide/hydroxide layer was first deposited on a Cu foil through a sol-gel process; then, Fe-NH 2 -Mil-101 was grown using both the iron oxide/hydroxide matrix, which provided the Fe 3+ centers needed for MOF formation, and 2-aminoterephthalic acid ethanol solution. This innovative synthetic strategy is a convenient approach to grow metal oxide/hydroxide and MOF composite films. Structural, chemical, and morphological characterizations suggest that the obtained composite is made up of both the α-FeOOH goethite and the NH 2 -Mil-101 phases featuring a hybrid heterostructure. The electrochemical features of the composite structure were investigated using electrochemical impedance spectroscopy. The impedance behavior of the α-FeOOH/NH 2 -Mil-101 films indicates that they can be used as efficient high surface area metal hydroxide/MOF-based electrodes for applications such as energy storage and sensing., Competing Interests: The authors declare no competing financial interest., (Copyright © 2019 American Chemical Society.)

A novel hybrid photoactive material based on graphene foam (G) coupled with porphyrin-based polymers (Porph rings) was formulated by using a time-saving procedure to remove nickel from the final device. Specifically, Porph rings were spin coated onto the G platform with the double function of a visible-light photocatalyst and protective agent during nickel etching. The characterization of G-Porph rings was assessed by Scanning Electron microscopy (SEM), X-ray photoelectron spectroscopy (XPS) and photoluminescence (PL). The novel material showed photocatalytic ability in degrading different classes of pollutants such as the herbicide 2,4 dichlorophenoxyacetic acid (2,4-D), polyethylene glycol (PEG) as an ingredient of care and health products, and also the methylene blue (MB) dye. UV-Vis spectroscopy, total organic carbon (TOC) and soft mass spectrometry techniques were used to monitor the photocatalytic process. The best performance in terms of photocatalytic efficiency was exhibited versus PEG and MB degradation. Furthermore, to determine the individual contribution of Reactive Oxygen Species (ROS) produced, free radical and hole scavenging tests were also carried out. Finally, a detailed map of the photocatalytic degradation mechanisms was proposed, reporting also the calculation of Porph rings' Highest Occupied Molecular Orbital (HOMO) and Lowest Occupied Molecular Orbital (LUMO) energy level values., Competing Interests: There are no conflicts to declare., (This journal is © The Royal Society of Chemistry.)

Energy storage performances of Ni-based electrodes rely mainly on the peculiar nanomaterial design. In this work, a novel and low-cost approach to fabricate a promising core-shell battery-like electrode is presented. Ni(OH) 2 @Ni core-shell nanochains were obtained by an electrochemical oxidation of a 3D nanoporous Ni film grown by chemical bath deposition and thermal annealing. This innovative nanostructure demonstrated remarkable charge storage ability in terms of capacity (237 mAh g -1 at 1 A g -1 ) and rate capability (76% at 16 A g -1 , 32% at 64 A g -1 ). The relationships between electrochemical properties and core-shell architecture were investigated and modelled. The high-conductivity Ni core provides low electrode resistance and excellent electron transport from Ni(OH) 2 shell to the current collector, resulting in improved capacity and rate capability. The reported preparation method and unique electrochemical behaviour of Ni(OH) 2 @Ni core-shell nanochains show potential in many field, including hybrid supercapacitors, batteries, electrochemical (bio)sensing, gas sensing and photocatalysis.

Purpose: The aim of the present study was to evaluate the association between the Mediterranean diet and obesity in a Mediterranean cohort., Methods: The study population of MEAL (Mediterranean Healthy Eating, Ageing, and Lifestyle) study comprised 1814 men and women (18 + years) recruited in the city of Catania, southern Italy. Food intake was evaluated through a validated food frequency questionnaire and the Mediterranean diet adherence was assessed through the MEDI-LITE score., Results: Individuals highly adherent to the Mediterranean diet (highest quartile of the score) were less likely to be obese (OR 0.53, 95% CI 0.32, 0.89) despite there was no significant associations when considering men and women separately. The dietary profile of obese and non-obese individuals did not significantly differ, except for vitamin E, processed meat, and alcohol more consumed among non-obese ones. Among the food groups characterizing this dietary pattern, only satisfaction of the criterion for dairy products (< 1 serving/day) was significantly associated with lower odds of being obese. Among other covariates, current smoking was associated with obesity, while high physical activity and regular alcohol drinking were inversely associated. Some differences between men and women in the highest category of occupational status occurred, as the former were less likely, while the latter were more likely to be obese., Conclusions: Higher adherence to the Mediterranean diet as a whole dietary pattern, rather than its individual components, is associated with less likelihood of being obese., Level of Evidence: Level V, cross-sectional descriptive study.

We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels. About 160 families/unrelated cases with HHCS are known worldwide. This report documents a second Italian family, with a c.-168G>C mutation that is located in the highly conserved 3-nucleotide bulge structure of the FTL in the 5' untranslated region. This case shows how important the family history is in reaching a correct diagnosis and avoiding unnecessary and invasive analysis. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.

Background: Dietary vitamins and minerals are essential compounds for the proper functioning of metabolic enzymes, regulation of gene transcription, and powering the body&rsquo;s defense against oxidative stress. The aim of the present study was to investigate micronutrient consumption separately by age and sex, major dietary sources, and percentage of individuals meeting the recommended requirements according to Italian (Livelli di Assunzione di Riferimento di Nutrienti (LARN)) and European (European Food Safety Agency (EFSA)) agencies., Methods: Data were obtained from the Mediterranean Healthy Eating, Ageing, and Lifestyle (MEAL) study, which included a sample of 1838 individuals randomly collected in the city of Catania, southern Italy. A validated food frequency questionnaire was used to collect information on diet., Results: Intake of vitamin A, vitamin C, and vitamin B group (except vitamin B9) was in line with other reports and was adequate according to the guidelines, while the percentage of individuals meeting the guidelines for vitamin D, vitamin E, and vitamin B9 was about 3%, 10%, and 40%, respectively. Among minerals, intake of iron, magnesium, and selenium was adequate for most of the sample, while the percentage of individuals meeting the recommendations for calcium, sodium, and potassium intake was about 20%, 8%, and 35%, respectively., Conclusions: An important percentage of the population would benefit from campaigns raising awareness of micronutrient deficiency or excessive consumption potentially affecting their health.

Aim: To evaluate the efficacy and safety of the excimer laser correction of the residual refractive errors after cataract extraction with intraocular lens (IOL) implantation in uncommon cases., Methods: Totally 24 patients with high residual refractive error after cataract surgery with IOL implantation were examined. Twenty-two patients had a history of phacoemulsification and IOL implantation, and two had extra-capsular cataract extraction with IOL implantation. Detailed examination of preoperative medical records was done to explain the origin of the post-cataract refractive errors. All patients underwent photorefractire keratectomy (PRK) enhancement. The mean outcome measures were refraction, uncorretted visual acuity (UCVA), best corrected visual acuity (BCVA) and corneal transparency and follow up ranged from 1 to 8y., Results: The principal causes of residual ametropia was inexact IOL calculation in abnormal eyes with high myopia and congenital lens abnormalities, followed by corneal astigmatism both suture induced and preexisting. After cataract surgery and before the laser enhancement the mean spherical equivalent (SE) was -0.56±3 D ranging from -4.62 to +2.25 D in high myopic patients, instead it was -1±1.73 D ranging from -3.25 to +3.75 D in the astigmatic eyes, with a mean cylinder of -3.75±0 ranging from -3 to +5.50 D. After laser refractive surgery the mean SE was 0.1±0.73, ranging from -0.50 to +1.50 in the myopic group, and it was -0.50±0.57 ranging from -1.25 to +0.50 in astigmatic patients, with a mean cylinder of -0.25±0.75. In myopic patients the mean UCVA and BCVA were 0.038±0.072 logMAR and 0.018±0.04 respectively, both ranging from 0.10 to 0.0. In astigmatic patients, the mean UCVA and BCVA were 0.213±0.132 and 0.00±0.0 respectively, UCVA ranging from 0.50 to 0.22 and BCVA was 0.00. All patients presented normal corneal transparency. No ocular hypertension was detected and no corneal haze was observed. All registered values remained stable also at the end line evaluation., Conclusion: The excimer laser treatment of residual refractive errors after cataract surgery with IOL implantation in abnormal eyes resulted in satisfactory and stable visual outcome with good safety and efficacy.

Background: Dietary intake of macronutrient and foods is considered crucial to decrease the risk of diet-related non-communicable diseases., Methods: The aim of this study was to describe the intake of major food groups and macronutrients in a random sample of 1838 southern Italian adults., Results: No significant differences of macronutrient consumption between sexes were found. By contrast, younger individuals had significantly higher intake of animal protein than older ones. Men reported consuming significantly more total processed meats and less eggs than women; egg consumption significantly increased by age groups. Significantly lower intake of fruit in the younger age group compared to older ones was found. Various patterns of correlation between food groups were described. More than half of individuals reached the suggested recommendations for carbohydrate and fiber intake, and about two-thirds met the recommendations for total protein and cholesterol intake, while only a minority met for total fat intake. Total and plant protein, monounsaturated and omega-6 fatty acids, were significantly inversely related with BMI (body mass index), while trans fatty acids and cholesterol were directly correlated. A direct association with unprocessed meats and an inverse association with processed meats was also found., Conclusions: The overall findings suggest that relatively healthy dietary habits are common in southern Italy., Competing Interests: The authors declare no conflict of interest.

The aim of the present study was to investigate the total water intake (TWI) from drinks and foods and to evaluate the correlation between the different types of drinks on energy and antioxidant intake. The cohort comprised 1602 individuals from the city of Catania in Southern Italy. A food frequency questionnaire was administered to assess dietary and water intake. The mean total water intake was 2.7 L; more than about two thirds of the sample met the European recommendations for water intake. Water and espresso coffee were the most consumed drinks. Alcohol beverages contributed about 3.0% of total energy intake, and sugar sweetened beverages contributed about 1.4%. All antioxidant vitamins were significantly correlated with TWI. However, a higher correlation was found for water from food rather than water from beverages, suggesting that major food contributors to antioxidant vitamin intake might be fruits and vegetables, rather than beverages other than water. A mild correlation was found between fruit juices and vitamin C; coffee, tea and alcohol, and niacin and polyphenols; and milk and vitamin B12. The findings from the present study show that our sample population has an adequate intake of TWI and that there is a healthy association between beverages and dietary antioxidants., Competing Interests: The authors declare no conflict of interest.

There is accumulating evidence suggesting that Mediterranean lifestyles, including nutrition and sleeping patterns as well as social integration, may play a role in reducing age-related diseases. However, the literature is mostly deficient of evidence provided by Italian Mediterranean islands that more closely adhered to the originally described lifestyles. In this paper, we described the rationale and the study design of the Mediterranean healthy Eating, Ageing, and Lifestyle (MEAL) study, a prospective population-based cohort established in Sicily, southern Italy. The main exposures investigated are classical determinants of health, including demographic, nutritional habits, smoking and physical activity status, as well as eating-related behaviors, sleeping habits, sun exposure, social resources, and perceived stress. Anthropometric measurements will be collected. The main outcomes included depression, quality of life, and, after the follow-up period, also cardiovascular disease and cancer. The MEAL study may provide important data to increase our knowledge regarding the prevalence, incidence, and risk factors of age-related disorders in the Mediterranean region.

This study aims to evaluate and to compare three different approaches of cataract surgery to patients with previous radial keratotomy (RK), and to analyze the mechanical properties of the cornea after cataract surgery. Three groups of patients, each one including 8 eyes of patients with 16 RK incisions. The first group includes eyes with the first cataract incision superiorly, the second group in the temporal area, the third group in temporal area and a precautionary stabilizing suture across the RK incision adjacent to the main tunnel. In the first group intraoperative dehiscence occurred in three eyes (37.5%): it required immediate application of a suture. In the second group dehiscence occurred intraoperatively in two radial scars (20%): it required immediate application of a suture. In the third group, no intraoperative dehiscences were observed. The stabilizing suture of the RK incision works safer, with a lower risk of dehiscences and less post-operative astigmatism.

To meet the ambitious targets set by the Global Plan Towards the Elimination of New HIV Infections Among Children by 2015 and Keeping Their Mothers Alive (Global Plan), the initial 22 priority countries quickly developed innovative approaches for overcoming long-standing health systems challenges and providing HIV testing and treatment to pregnant and breastfeeding women and their infants. The Global Plan spurred programs for prevention of mother-to-child HIV transmission to integrate HIV-related care and treatment into broader maternal, newborn, and child health services; expand the effectiveness of the health workforce through task sharing; extend health services into communities; strengthen supply chain and commodity management systems; reduce diagnostic and laboratory hurdles; and strengthen strategic supervision and mentorship. The article reviews the ongoing challenges for prevention of mother-to-child HIV transmission programs as they continue to strive for elimination of vertical transmission of HIV infection in the post-Global Plan era. Although progress has been rapid, health systems still face important challenges, particularly follow-up and diagnosis of HIV-exposed infants, continuity of care, and the promotion of services that are respectful and client centered.

While the Interagency Task Team on the Prevention and Treatment of HIV Infection in Pregnant Women, Mothers, and Children (IATT) partnership existed before the Global Plan Towards the Elimination of New HIV Infections Among Children by 2015 and Keeping Their Mothers Alive (Global Plan), its reconfiguration was critical to coordinating provision of technical assistance that positively influenced country decision-making and program performance. This article describes how the Global Plan anchored the work of the IATT and, in turn, how the IATT's technical assistance helped to accelerate achievement of the Global Plan targets and milestones. The technical assistance that will be discussed addressed a broad range of priority actions and milestones described in the Global Plan: (1) planning for and implementing Option B+; (2) strengthening monitoring and evaluation systems; (3) translating evidence into action and advocacy; and (4) promoting community engagement. This article also reviews the ongoing challenges and opportunities of providing technical assistance in a rapidly evolving environment that calls for ever more flexible and contextualized responses. The effectiveness of technical assistance facilitated by the IATT was defined by its timeliness, evidence base, and unique global perspective that built on the competencies of its partners and promoted synergies across program areas. Reaching the final goal of eliminating vertical transmission of HIV infection and achieving an AIDS-free generation in countries with the highest HIV burden requires that the IATT partnership and technical assistance remain responsive to country-specific needs while aligning with the current programmatic reality and new global goals such as the Sustainable Development Goals and 90-90-90 targets.

In well-resourced settings, reduced circulating maternal-free placental growth factor (PlGF) aids in either predicting or confirming the diagnosis of preeclampsia, fetal growth restriction, stillbirth, preterm birth, and delivery within 14 days of testing when preeclampsia is suspected. This blinded, prospective cohort study of maternal plasma PlGF in women with suspected preeclampsia was conducted in antenatal clinics in Maputo, Mozambique. The primary outcome was the clinic-to-delivery interval. Other outcomes included: confirmed diagnosis of preeclampsia, transfer to higher care, mode of delivery, intrauterine fetal death, preterm birth, and low birth weight. Of 696 women, 95 (13.6%) and 601 (86.4%) women had either low (<100 pg/mL) or normal (≥100 pg/mL) plasma PlGF, respectively. The clinic-to-delivery interval was shorter in low PlGF, compared with normal PlGF, women (median 24 days [interquartile range, 10-49] versus 44 [24-81], P =0.0042). Also, low PlGF was associated with a confirmed diagnosis of preeclampsia, higher blood pressure, transfer for higher care, earlier gestational age delivery, delivery within 7 and 14 days, preterm birth, cesarean delivery, lower birth weight, and perinatal loss. In urban Mozambican women with symptoms or signs suggestive of preeclampsia, low maternal plasma PlGF concentrations are associated with increased risks of adverse pregnancy outcomes, whether the diagnosis of preeclampsia is confirmed. Therefore, PlGF should improve the provision of precision medicine to individual women and improve pregnancy outcomes for those with preeclampsia or related placenta-mediated complications., (© 2017 American Heart Association, Inc.)

Goals: To investigate the current opinion of Italian general practitioners (GPs) on the management of patients with diverticular disease (DD) of the colon., Background: The management of DD remains a point of debate, and guidelines are not uniform in their advice., Study: A web-based survey was conducted among Italian GPs. Twelve questions were aimed at the diagnosis, treatment, and management options for diverticulosis and symptomatic DD., Results: In total, 245 surveys were filled out. A high-fiber diet was prescribed widely in diverticulosis (44%), together with advice to allow seeds (30%). Rifaximin (26%) and probiotics (25%) were the most frequently prescribed drugs in this population. Colonoscopy was the most prescribed instrumental tool in the diagnosis (77%) and follow-up (21%) of symptomatic uncomplicated diverticular disease patients. Rifaximin, probiotics, and mesalazine were the most frequently prescribed drugs in symptomatic uncomplicated diverticular disease patients (82.8, 59.5%, and 36.3%, respectively). Finally, 77% of the Italian GPs prescribed laboratory exams in the follow-up of these patients. The vast majority of the Italian GPs (83%) managed suspected acute diverticulitis at home, and did not consider two episodes of acute diverticulitis as a strict surgical indication (86%). Rifaximin, probiotics, and mesalazine were the most frequently prescribed drugs to prevent recurrence of the disease (42.5%, 28.2%, and 12.4%, respectively). Finally, 87% of the Italian GPs prescribed laboratory examinations in the follow-up of these patients., Conclusions: This survey shows that the current management of DD in primary care by Italian GPs is not fully in line with current guidelines and more recent literature data.

Medical students can develop burnout syndrome, characterized by exhaustion, cynical attitude towards study and negative consequences on wellbeing and academic performance. Engagement, theoretically syndrome "opposite" to burnout, shows a positive influence on personal and academic performance. To study the association of syndromes burnout and engagement with personality factors in medical students, a longitudinal observational, descriptive study of a cohort follow-up was performed. Three questionnaires were used: reduced inventory NEO Five-Factor (NEO FFI) administered at the beginning of the sixth year; the Maslach Burnout Inventory-Student Survey and Utrecht Work Engagement Scale, applied at the end of the seventh year. 120 students participated. The chance of presenting burnout was 3 times higher when the student had 0.26 times higher neuroticism and high extraversion lower when presented. The chance to present engagement was 10 times higher in students who had high extraversion (Multilevel logistic regression model, p<0.05). It would be important to further research into the mechanisms underlying personality factors could favor the onset of burnout and engagement syndromes, and carry out strategies to prevent the consequences of academic stress on the most vulnerable students.

Diabetes mellitus (DM) and thyroid dysfunction (TD) are two common endocrine disorders. The unrecognized subclinical TD may adversely affect metabolic control and increase cardiovascular risk. Our aim was to investigate the prevalence of TD in patients with type 2 diabetes mellitus in an observational cross-sectional study. Clinical and laboratory evaluation was performed to 205 consecutive outpatients at Endocrinology Diabetes and Nutrition Center in Concepcion City, Tucuman, Argentina. Thyroid dysfunction was classified as clinical hypothyroidism with TSH > 4.20 mUI / ml and FT4 < 0.93 ng / dl, subclinical hypothyroidism with TSH > 4.20 mUI / ml and free T4 0.93 to 1.70 ng / dl. Subclinical hyperthyroidism was considered with TSH < 0.27 mUI / ml and free T4 was in normal range (0.93 to 1.70 ng / dl); and clinical hyperthyroidism with TSH < 0.27 mUI / ml and free T4 > 1.70 mUI / ml. Autoimmunity was diagnosed with anti-TPO > 34 IU / ml. TD prevalence in type 2 diabetic patients was 48% (n = 92). In subjects who denied prior TD, the prevalence was 40% (n = 37), 15 with subclinical hypothyroidism (45%). In the whole study population prevalence of subclinical hypothyroidism was 8%. Globally, subclinical DT prevalence was 9% (n = 17) and anti-TPO 13% (n = 25). Early detection of thyroid dysfunction in patients with type 2 diabetes mellitus should be performed routinely, given the high rate of newly diagnosed cases, and increased cardiovascular risk associated with undiagnosed thyroid dysfunction.

Background: A Quick Test of Cognitive Speed (AQT) is a brief test that can identify cognitive impairment. AQT has been validated in Arabic, English, Greek, Japanese, Norwegian, Spanish, and Swedish. The aim of this study was to develop Italian criterion-referenced norms for AQT., Methods: AQT consists of three test plates where the patient shall rapidly name (1) the color of 40 blue, red, yellow, or black squares (AQT color), (2) the form of 40 black figures (circles, squares, triangles, or rectangles; AQT form), (3) the color and form of 40 figures (consisting of previous colors and forms; AQT color-form). The AQT test was administered to 121 Italian cognitively healthy primary care patients (age range: 45-90 years). Their mean Mini-Mental State Examination (MMSE) score was 28.8 ± 0.9 points (range 26-30 points). AQT naming times in seconds were used for developing preliminary criterion cut-off times for different age groups., Results: Age was found to have a significant moderate positive correlation with AQT naming times color (r = 0.65, p < 0.001), form (r = 0.53, p < 0.001), color-form (r = 0.63, p < 0.001) and a moderate negative correlation with MMSE score (r = -0.44, p < 0.001) and AQT naming times differed significantly between younger (45-55 years old), older (56-70 years old), and the oldest (71-90 years old) participants. Years of education correlated positively but weakly with MMSE score (r = 0.27, p = 0.003) and negatively but weakly with AQT color (r = -0.16, p = ns), form (r = -0.24, p = 0.007), and color-form (r = -0.19, p = 0.005). We established preliminary cut-off times for the AQT test based on +1 and +2 standard deviations according to the approach in other languages and settings., Conclusions: This is the first Italian normative AQT study. Future studies of AQT - a test useful for dementia screening in primary care - will eventually refine cut-off times for normality balancing sensitivity and specificity in cognitive diagnostics.

Since Kocher and Billroth refined an acceptable technique, the thyroidectomy has become one of the most frequent procedures in endocrine surgery and bilateral total thyroidectomy is performed in the majority of thyroid diseases. This work evaluated the use of the Harmonic(®) FOCUS and traditional suture ligation (knot and tie) technique in a prospective, randomized study of open thyroidectomy. Eighty two patients were randomized and divided into two similarly sized groups: the Harmonic(®) FOCUS group (F group) and traditional group (T group). The use of the harmonic FOCUS shows some statistically significant advantages limited to a few intraoperative parameters: surgical time and volume of blood loss. The surgical time was significantly shorter in F group than in the T group (105 ± 27 min vs 143 ± 32 respectively; p < 0.05). Intraoperative volume blood loss was significantly more in the T group than in the F group (36 ± 23 ml vs. 24 ± 18; p < 0.05). The postoperative parameters (volume of drainage fluid, serum calcium at 12 and 48 h, hypocalcemia, wound complication, RLN palsy, postoperative pain and length of hospital stay) showed no statistical difference. The Harmonic Focus may provide a cost-effective option only in high volume centers where reducing operative time may balance the number of daily procedures., (Copyright © 2014 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.)

Bone defect repair is a significant clinical challenge in orthopedic surgery. Despite tremendous efforts, the majority of the current bone tissue engineering strategies depend on bone formation via intramembranous ossification (IO), which often results in poor vascularization and limited-area bone regeneration. Recently, there has been increasing interest in exploring bone regeneration through a cartilage-mediated process similar to endochondral ossification (EO). This method is advantageous because long bones are originally developed through EO and moreover, vascularization is an inherent step of this process. Therefore, it may be possible to effectively employ the EO method for the repair and regeneration of large and segmental bone defects. Although a number of studies have demonstrated engineered bone formation through EO, there are no approaches aiming for their clinical translation. In this study, we propose a strategy modeled after the U.S. Food and Drug Administration (FDA) approved autologus chondrocyte implantation (ACI) procedure. In its implementation, we concentrated human bone marrow aspirate via a minimally manipulated process and demonstrated the potential of human bone marrow derived cells for in vitro pre-cartilage template formation and bone regeneration in vivo.

The Arp2/3 complex is essential for actin filament nucleation in a variety of cellular processes. The activation of the Arp2/3 complex is mediated by nucleation-promoting factors, such as the Wiskott-Aldrich syndrome family proteins, which share a WCA (WH2 domain, central region, acidic region) catalytic module at the C-terminal region, required for Arp2/3 activation, but diverge at the N-terminal region, required for binding to specific activators. Here, we report the characterization of WASH, a new member of the WAS family that has nucleation-promoting factor activity and recently has been demonstrated to play a role in endosomal sorting. We found that overexpression of the WASH-WCA domain induced disruption of the actin cytoskeleton, whereas overexpression of full-length WASH in mammalian cells did not affect stress fiber organization. Furthermore, our analysis has revealed that nerve growth factor treatment of PC12 cells overexpressing full-length WASH leads to disruption of the actin cytoskeleton. We have also found that WASH interacts through its N-terminal region with BLOS2, a centrosomal protein belonging to the BLOC-1 complex that functions as a scaffolding factor in the biogenesis of lysosome-related organelles. In addition to BLOS2, WASH also interacts with centrosomal gamma-tubulin and with pallidin, an additional component of the BLOC-1 complex. Collectively, our data propose that WASH is a bimodular protein in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells. Moreover, our data suggest that WASH is also a component of the BLOC-1 complex that is associated with the centrosomes.

The Incontinentia Pigmenti (IP) locus contains the IKBKG/NEMO/IKKgamma gene and its truncated pseudogene copy, IKBKGP/deltaNEMO. The major genetic defect in IP is a heterozygous exon4&#95;10 IKBKG deletion (IKBKGdel) caused by a recombination between two consecutive MER67B repeats. We analyzed 91 IP females carrying the IKBKGdel, 59 of whom carrying de novo mutations (65%). In eight parents, we found two recurrent nonpathological variants of IP locus, which were also present as rare polymorphism in control population: the IKBKGPdel, corresponding to the exon4&#95;10 deletion in the pseudogene, and the MER67Bdup, that replicates the exon4&#95;10 region downstream of the normal IKBKG gene. Using quantitative DNA analysis and microsatellite mapping, we established that both variants might promote the generation of the pathological IKBKGdel. Indeed, in family IP-516, the exon4&#95;10 deletion was repositioned in the same allele from the pseudogene to the gene, whereas in family IP-688, the MER67Bdup generated the pathological IKBKGdel by recombination between two direct nonadjacent MER67Bs. Moreover, we found an instance of somatic recombination in a MER67Bdup variant, creating the IKBKGdel in an IP male. Our data suggest that the IP locus undergoes recombination producing recurrent variants that might be "at risk" of generating de novo IKBKGdel by NAHR during either meiotic or mitotic division.

Background: The subtelomeric regions of human chromosomes exhibit an extraordinary plasticity. To date, due to the high GC content and to the presence of telomeric repeats, the subtelomeric sequences are underrepresented in the genomic libraries and consequently their sequences are incomplete in the finished human genome sequence, and still much remains to be learned about subtelomere organization, evolution and function. Indeed, only in recent years, several studies have disclosed, within human subtelomeres, novel gene family members., Results: During a project aimed to analyze genes located in the telomeric region of the long arm of the human X chromosome, we have identified a novel transcript family, DDX11L, members of which map to 1pter, 2q13/14.1, 2qter, 3qter, 6pter, 9pter/9qter, 11pter, 12pter, 15qter, 16pter, 17pter, 19pter, 20pter/20qter, Xpter/Xqter and Yqter. Furthermore, we partially sequenced the underrepresented subtelomeres of human chromosomes showing a common evolutionary origin., Conclusion: Our data indicate that an ancestral gene, originated as a rearranged portion of the primate DDX11 gene, and propagated along many subtelomeric locations, is emerging within subtelomeres of human chromosomes, defining a novel gene family. These findings support the possibility that the high plasticity of these regions, sites of DNA exchange among different chromosomes, could trigger the emergence of new genes.

Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. The IKBKG gene, located in the Xq28 chromosomal region, encodes for the regulatory subunit of the inhibitor of kappaB (IkB) kinase (IKK) complex required for the activation of the NF-kB pathway. Therefore, the remarkably heterogeneous and often severe clinical presentation reported in IP is due to the pleiotropic role of this signaling transcription pathway. A recurrent exon 4&#95;10 genomic rearrangement in the IKBKG gene accounts for 60 to 80% of IP-causing mutations. Besides the IKBKG rearrangement found in IP females (which is lethal in males), a total of 69 different small mutations (missense, frameshift, nonsense, and splice-site mutations) have been reported, including 13 novel ones in this work. The updated distribution of all the IP- and EDA-ID-causing mutations along the IKBKG gene highlights a secondary hotspot mutation in exon 10, which contains only 11% of the protein. Furthermore, familial inheritance analysis revealed an unexpectedly high incidence of sporadic cases (>65%). The sum of the observations can aid both in determining the molecular basis of IP and EDA-ID allelic diseases, and in genetic counseling in affected families.

Two-dimensional target characterization using inverse profiling approaches with total-field phaseless data is discussed. Two different inversion schemes are compared. In the first one, the intensity-only data are exploited in a minimization scheme, thanks to a proper definition of the cost functional. Specific normalization and starting guess are introduced to avoid the need for global optimization methods. In the second scheme [J. Opt. Soc. Am. A21, 622 (2004)], one exploits the field properties and the theoretical results on the inversion of quadratic operators to derive a two-step solution strategy, wherein the (complex) scattered fields embedded in the available data are retrieved first and then a traditional inverse scattering problem is solved. In both cases, the analytical properties of the fields allow one to properly fix the measurement setup and identify the more convenient strategy to adopt. Also, indications on the number and types of sources and receivers to be used are given. Results from experimental data show the efficiency of these approaches and the tools introduced.

Background: The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles., Case Presentation: We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61-200), of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles (<40). The coexistence within the same family of two dysfunctional ovarian conditions, one FMR1-related and one not FMR1-related, suggests that the complexity of familial POF conditions is larger than expected., Conclusion: Our case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.

Applicability of inverse scattering based imaging procedures can be broadened by developing new approaches exploiting only amplitude data. As a matter of fact, this can open the way to simpler and less expensive measurement set-ups. In this respect, a two-step based procedure for solving electromagnetic nonlinear inverse scattering problems from only amplitude measurements of the total field has been recently proposed [1,2]. However, in these latter both amplitude and phase of the incident field are still required. In this contribution, we show the possibility of achieving this information from the measured amplitude distribution of the incident field on the observation domain. In particular, a three steps imaging technique which exploits only amplitude measurements of the total and incident fields has been developed. The proposed procedure has been tested against benchmark experimental data available in the literature. The obtained results fully confirm the possibility of achieving faithful reconstructions of unknown targets without performing any phase measurements and any approximation on the scattering equations involved in the inverse scattering problems.

A new solution approach to inverse scattering from aspect-limited phaseless measurements of the total field is introduced and discussed. In analogy with the case of measurements on closed curves [J. Opt. Soc. Am. A21, 622 (2004)], the procedure splits the problem into two different steps. In the first step, amplitude and phase of the scattered field are estimated from only amplitude information of the total field. By properly extending the concept of reduced radiated field to the case of scattered fields (as a function of both illumination and measurement variables) and taking advantage of the properties of the square amplitude distribution of the total field, criteria are given for an optimal choice of the measurement setup and a successful retrieval. Then the complex permittivity profile is reconstructed in the second step, starting from the scattered fields estimated in the previous step. Numerical examples are provided to assess the effectiveness of the whole chain in the presence of noise-corrupted data and the relevance of the representation introduced for the scattered fields.

Background: Deletions of Xq chromosome are reported for a number of familial conditions exhibiting premature ovarian failure (POF) and early menopause (EM)., Methods and Results: We describe the inheritance of an interstitial deletion of the long arm of the X chromosome associated with either POF or EM in the same family. Cytogenetic studies and heterozygosity mapping by quantitative fluorescent PCR revealed a 46,X,del(X)(q26.2-q28) karyotype in a POF female, in her EM mother, and also in her aborted fetus with severe cardiopathy. Applying a microsatellite approach, we have narrowed the extension of an identical interstitial deletion located between DXS1187 and DXS1073. These data, in line with other mapped deletions, single out the proximal Xq28 as the region most frequently involved in ovarian failure. We also propose that other factors may influence the phenotypic effect of this alteration. Indeed, skewed X inactivation has been ascertained in EM and POF to be associated with different X haplotypes., Conclusion: Our analysis indicates that Xq26.2-q28 deletion is responsible for gonad dysgenesis in a family with EM/POF. The dissimilar deletion penetrance may be due to epigenetic modifications of other X genes that can contribute to human reproduction, highlighting that ovarian failure should be considered as a multifactorial disease.

Age-associated muscle wasting, or sarcopenia, can be delayed or reversed with interventions, including exercise and pharmaceutical agents. Mapping morphometric changes in the skeletal muscle insulin growth factor 1 receptor can provide valuable information regarding mechanisms controlling muscle protein metabolism. Immunocolloidal gold labeling is a powerful immunocytochemistry procedure for detecting antigens at the ultrastructural level, providing plausible biological markers of cell and tissue adaptations to stimuli. The intent here was to employ immunogold labeling to identify, localize, and quantify the insulin growth factor receptor-I (IGF-IR) in elderly human skeletal muscle. Needle biopsy specimens of the leg vastus lateralis muscle were fixed with 1% glutaraldehyde and 4% paraformaldehyde, dehydrated, and embedded in LR white resin. Pilot experiments were carried out to establish optimal dilutions of primary and secondary antibodies and to employ controls to establish staining specificity. The 6 nm gold particles were first evident when viewed at transmission electron microscopy (TEM) magnifications at 54,000x and clearest at 71,000x. Consistencies were noted in the staining patterns, with the majority of particles lying in proximity to the myofilaments. Gold particles were also found randomly along the outer membrane of the sarcolemma and the mitochondrial membranes. National Institutes of Health (NIH) Image 1.55 version software was used to measure receptor density (NIH, Bethesda, Md., USA). It appears that immunogold labeling of postembedded tissue samples is a sensitive method for detecting IGF-I receptors at the ultrastructural level.

The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of ACTN3 results in complete loss of the protein. The ACTN3 genotype (R577X) has been found to be associated with performance in Australian elite athletes (Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, and North K. Am J Hum Genet 73: 627-631, 2003). We studied associations between ACTN3 genotype and muscle size [cross-sectional area of the biceps brachii via magnetic resonance imaging (MRI)] and elbow flexor isometric (MVC) and dynamic [1-repetition maximum (1-RM)] strength in a large group of men (N = 247) and women (N = 355) enrolled in a 12-wk standardized elbow flexor/extensor resistance training program of the nondominant arm at one of eight study centers. We found no association between ACTN3 R577X genotype and muscle phenotype in men. However, women homozygous for the ACTN3 577X allele (XX) had lower baseline MVC compared with heterozygotes (P < 0.05) when adjusted for body mass and age. Women homozygous for the mutant allele (577X) demonstrated greater absolute and relative 1-RM gains compared with the homozygous wild type (RR) after resistance training when adjusted for body mass and age (P < 0.05). There was a trend for a dose-response with genotype such that gains were greatest for XX and least for RR. Significant associations were validated in at least one ethnic subpopulation (Caucasians, Asians) and were independent of training volume. About 2% of baseline MVC and of 1-RM strength gain after training were attributable to ACTN3 genotype (likelihood-ratio test P value, P = 0.01), suggesting that ACTN3 is one of many genes contributing to genetic variation in muscle performance and adaptation to exercise.