Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.

Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role of nuclear lamins as mechanosensitive proteins involved in the mechanotransduction process. To shed light on the nuclear partners cooperating with altered lamins, we focused on Src tyrosine kinase, known to phosphorylate proteins of the nuclear lamina.

Tailored graphene nanoparticles for biomedical application: preliminary in vitro characterization of the functionality in model cell lines.

Thanks to an environmentally friendly physical treatment of high purity graphite, a good control of the structure of graphene nanoparticles (GNPs) has been obtained with the production of stable and reproducible GNPs water dispersions. The preparation protocol entailed ball-milling of synthetic graphite followed by sonication in water and centrifugation/separation procedures. This way, two different GNPs samples with slightly different structural characteristics were harvested: TOP60, showing an average lateral size of the graphene layers  = 70 nm and average number of stacked layers  = 4, and BOTTOM60, with  = 120 nm and  = 6.

Pulmonary Artery Pseudoaneurysm Due to Pulmonary Artery Catheter Placement: A New Minimally Invasive Approach to Solve a Life-threatening Complication.

This article discusses a pulmonary artery pseudoaneurysm (PAP) formation following pulmonary artery catheter (PAC) placement for cardiac surgery. The patient, an 82-year-old female with a history of hypertension and chronic heart failure, underwent elective mitral and tricuspid valve surgery. After surgery, bleeding was observed in the endotracheal tube, indicating a potential complication.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.

Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023.

Conducting Electrospun Poly(3-hexylthiophene-2,5-diyl) Nanofibers: New Strategies for Effective Chemical Doping and its Assessment Using Infrared Spectroscopy.

Vibrational spectroscopy allows the investigation of structural properties of pristine and doped poly(3-hexylthiophene-2,5-diyl) (P3HT) in highly anisotropic materials, such as electrospun micro- and nanofibers. Here, we compare several approaches for doping P3HT fibers. We have selected two different electron acceptor molecules as dopants, namely iodine and 2,3,5,6-tetrafluoro-7,7,8,8-tetracyanoquinodimethane (F4TCNQ).

Forensic age estimation at the University Center of Legal Medicine Lausanne-Geneva: a retrospective study over 12 years.

With the undeniable increase in asylum requests from unaccompanied alleged minors, age estimation of living individuals has become an essential part of the routine work in European forensic centers. This study aims to review the forensic age estimations performed in our center since 2010, to evaluate the state-of-the-art of this practice in Switzerland with the evolution of the methodology according to upcoming recommendations. Our institute's expert reports performed between 2010 and 2022 were retrospectively analyzed.

Impact of Halogen Termination and Chain Length on π-Electron Conjugation and Vibrational Properties of Halogen-Terminated Polyynes.

We explored the optoelectronic and vibrational properties of a new class of halogen-terminated carbon atomic wires in the form of polyynes using UV-vis, infrared absorption, Raman spectroscopy, X-ray single-crystal diffraction, and DFT calculations. These polyynes terminate on one side with a cyanophenyl group and on the other side, with a halogen atom X (X = Cl, Br, I). We focus on the effect of different halogen terminations and increasing lengths (i.

Cognitive assessment to optimize prediction of functional outcome in subacute hip fracture: a short-term prospective study.

Background: Cognitive impairment is a long-known negative prognostic factor after hip fracture. Cognition is usually screened by a single easy-to-administer bedside tool, but recent studies have shown that screening tests may be not enough to rule out cognitive impairment with an unfavorable prognostic role. Unfortunately, data on outcome prediction by further cognitive assessments is sparse.

Molecular Mechanism of the Piezoelectric Response in the β-Phase PVDF Crystals Interpreted by Periodic Boundary Conditions DFT Calculations.

A theoretical approach based on Periodic Boundary Conditions (PBC) and a Linear Combination of Atomic Orbitals (LCAO) in the framework of the density functional theory (DFT) is used to investigate the molecular mechanism that rules the piezoelectric behavior of poly(vinylidene fluoride) (PVDF) polymer in the crystalline β-phase. We present several computational tests highlighting the peculiar electrostatic potential energy landscape the polymer chains feel when they change their orientation by a rigid rotation in the lattice cell. We demonstrate that a rotation of the permanent dipole through chain rotation has a rather low energy cost and leads to a lattice relaxation.

Femoral bone mineral density at the time of hip fracture is higher in women with versus without type 2 diabetes mellitus: a cross-sectional study.

Purpose: To compare femoral bone mineral density (BMD) levels in hip-fracture women with versus without type 2 diabetes mellitus (T2DM). We hypothesized that BMD levels could be higher in the women with T2DM than in controls and we aimed to quantify the BMD discrepancy associated with the presence of T2DM.

Methods: At a median of 20 days after the occurrence of an original hip fracture due to fragility we measured BMD by dual-energy x-ray absorptiometry at the non-fractured femur.

Can the size of the contact area body-ground influence the presence of acute pulmonary emphysema in cases of incomplete hanging?

In a recently published study, we showed that acute pulmonary emphysema (APE) was present in cases of death by incomplete hanging and absent in cases of complete hanging. This result suggested a possible role of the hanging position on the respiratory distress of these victims. To further investigate this hypothesis, in the present study, we compared cases of incomplete hanging with a small contact area between body and ground (group A) to cases of incomplete hanging with a large contact area (group B).

Insights into the Safety and Versatility of 4D Printed Intravesical Drug Delivery Systems.

This paper focuses on recent advancements in the development of 4D printed drug delivery systems (DDSs) for the intravesical administration of drugs. By coupling the effectiveness of local treatments with major compliance and long-lasting performance, they would represent a promising innovation for the current treatment of bladder pathologies. Being based on a shape-memory pharmaceutical-grade polyvinyl alcohol (PVA), these DDSs are manufactured in a bulky shape, can be programmed to take on a collapsed one suitable for insertion into a catheter and re-expand inside the target organ, following exposure to biological fluids at body temperature, while releasing their content.

A Combined Raman Spectroscopy and Atomic Force Microscopy System for In Situ and Real-Time Measures in Electrochemical Cells.

An innovative and versatile set-up for in situ and real time measures in an electrochemical cell is described. An original coupling between micro-Raman spectroscopy and atomic force microscopy enables one to collect data on opaque electrodes. This system allows for the correlation of topographic images with chemical maps during the charge exchange occurring in oxidation/reduction processes.

Development of Tailored Graphene Nanoparticles: Preparation, Sorting and Structure Assessment by Complementary Techniques.

We present a thorough structural characterization of Graphene Nano Particles (GNPs) prepared by means of physical procedures, i.e., ball milling and ultra-sonication of high-purity synthetic graphite.

Real-World Evidence on Disease Burden and Economic Impact of Sickle Cell Disease in Italy.

A real-world analysis was conducted in Italy among sickle cell disease (SCD) patients to evaluate the epidemiology of SCD, describe patients' characteristics and the therapeutic and economic burden. A retrospective analysis of administrative databases of various Italian entities was carried out. All patients with ≥1 hospitalization with SCD diagnosis were included from 01/2010-12/2017 (up to 12/2018 for epidemiologic analysis).

Conducting Electrospun Nanofibres: Monitoring of Iodine Doping of P3HT through Infrared (IRAV) and Raman (RaAV) Polaron Spectroscopic Features.

Aligned polymer nanofibres are prepared by means of the electrospinning of a chlorobenzene solution containing regioregular poly(3-hexyltiophene-2,5-diyl), P3HT, and poly(ethylene oxide), PEO. The PEO scaffold is easily dissolved with acetonitrile, leaving pure P3HT fibres, which do not show structural modification. Polymer fibres, either with or without the PEO supporting polymer, are effectively doped by exposure to iodine vapours.

Hospital Discharge Instructions: Characteristics, Accessibility, and National Guideline Adherence.

Objectives: The content of pediatric hospital discharge instructions is highly variable. This study aimed to describe the characteristics, accessibility per patient literacy level and language, and national guideline adherence of pediatric hospital discharge instructions.

Methods: This retrospective study assessed discharge instructions at a tertiary children's hospital.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants.

A screening test is not enough to define the prognostic role of cognitive impairment after hip fracture: a short-term prospective study.

Background: Cognitive impairment assessed by easy-to-administer tests successfully predicts function after hip fracture, whereas the prognostic role of additional cognitive evaluations is largely unknown.

Aims: To investigate the capability of further assessments to discriminate cognitive impairment with prognostic relevance in hip-fracture women defined cognitively intact or mildly impaired on the Short Portable Mental Status Questionnaire (SPMSQ).

Methods: We prospectively investigated women with subacute hip fracture admitted to our rehabilitation facility.

Electron-phonon coupling and vibrational properties of size-selected linear carbon chains by resonance Raman scattering.

UV resonance Raman spectroscopy of size-selected linear sp-carbon chains unveils vibrational overtones and combinations up to the fifth order. Thanks to the tunability of the synchrotron source, we excited each H-terminated polyyne (HCH with n = 8,10,12) to the maxima of its vibronic absorption spectrum allowing us to precisely determine the electronic and vibrational structure of the ground and excited states for the main observed vibrational mode. Selected transitions are shown to enhance specific overtone orders in the Raman spectrum in a specific way that can be explained by a simple analytical model based on Albrecht's theory of resonance Raman scattering.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence the amount of complete SMN proteins. Therefore, SMN2 is considered the main phenotypic modifier of SMA, although genotype−phenotype correlation is not absolute.

Fat embolism after intraosseous catheters in pediatric forensic autopsies.

In our center, we performed the autopsy of a child who died from drowning and presented, at autopsy, a major pulmonary fat embolism (PFE). A cardiopulmonary resuscitation (CPR) was performed, including infusion by intraosseous catheter (IIC). No other traumatic lesions and diseases classically related to a risk of PFE were detected.