Miracle-dz/UniFAR-FTUs huggingface dataset:
Partial Lipodystrophy and LMNA p.R545H Variant

Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and tissue specificity have not been fully clarified. We herein examine the case of a patient carrying a heterozygous LMNA c.1634G>A (p.R545H) variant with a mild, transient myopathy, who was referred to our center for the suspicion of lipodystrophy. At physical examination, an abnormal distribution of subcutaneous fat was noticed, with fat accumulation in the anterior regions of the neck, resembling the fat distribution pattern of familial partial lipodystrophy type 2 (FPLD2). The R545H missense variant has been found at very low allelic frequency in public databases, and in silico analysis showed that this amino acid substitution is predicted to have a damaging role. Other patients carrying the heterozygous LMNA p.R545H allele have shown a marked clinical heterogeneity in terms of phenotypic body fat distribution and severity of organ system involvement. These findings indicate that the LMNA p.R545H heterozygous variant exhibits incomplete penetrance and highly variable expressivity. We hypothesized that additional genetic factors, epigenetic mechanisms, or environmental triggers might explain the variable expressivity of phenotypes among various patients.
A Cost-Effective Inertial Measurement System for Tracking Movement and Triggering Kinesthetic Feedback in Lower-Limb Prosthesis Users

Advances in lower-limb prosthetic technologies have facilitated the restoration of ambulation; however, users of such technologies still experience reduced balance control, also due to the absence of proprioceptive feedback. Recent efforts have demonstrated the ability to restore kinesthetic feedback in upper-limb prosthesis applications; however, technical solutions to trigger the required muscle vibration and provide automated feedback have not been explored for lower-limb prostheses. The study’s first objective was therefore to develop a feedback system capable of tracking lower-limb movement and automatically triggering a muscle vibrator to induce the kinesthetic illusion. The second objective was to investigate the developed system’s ability to provide kinesthetic feedback in a case participant. A low-cost, wireless feedback system, incorporating two inertial measurement units to trigger a muscle vibrator, was developed and tested in an individual with limb loss above the knee. Our system had a maximum communication delay of 50 ms and showed good tracking of Gaussian and sinusoidal movement profiles for velocities below 180 degrees per second (error < 8 degrees), mimicking stepping and walking, respectively. We demonstrated in the case participant that the developed feedback system can successfully elicit the kinesthetic illusion. Our work contributes to the integration of sensory feedback in lower-limb prostheses, to increase their use and functionality.
1,3,5-Triaza-7-Phosphaadamantane (PTA) as a 31P NMR Probe for Organometallic Transition Metal Complexes in Solution

Due to the rigid structure of 1,3,5-triaza-7-phosphaadamantane (PTA), its 31P chemical shift solely depends on non-covalent interactions in which the molecule is involved. The maximum range of change caused by the most common of these, hydrogen bonding, is only 6 ppm, because the active site is one of the PTA nitrogen atoms. In contrast, when the PTA phosphorus atom is coordinated to a metal, the range of change exceeds 100 ppm. This feature can be used to support or reject specific structural models of organometallic transition metal complexes in solution by comparing the experimental and Density Functional Theory (DFT) calculated values of this 31P chemical shift. This approach has been tested on a variety of the metals of groups 8–12 and molecular structures. General recommendations for appropriate basis sets are reported.
Biological evaluations of decellularized extracellular matrix collagen microparticles prepared based on plant enzymes and aqueous two-phase method

Abstract For patients with extensive full-thickness burns who do not have sufficient autologous split-thickness skin for skin grafts, the application of biological skin substitutes may be considered. The aim of this study was to find an optimal new type method for the production of a biovital skin substitute based on acellular dermal matrix (ADM) and preclinical evaluations. In this work, 25 methods of ADM production were assessed. The proposed methods are based on the use of the following enzymes: papain, Carica papaya lipase (CPL), and purification using a polymer/salt aqueous two-phase system. The obtained ADM samples were characterized via scanning electron microscopy (SEM), porosity measurement and water vapor transmission test. Results showed that the collagen bundles of ADM microparticles were intact and orderly. Through differential scanning calorimetry (DSC), thermo gravimetric analysis (TGA) and biocompatibility tests, the results indicated that the proportion of papain and CPL was the same and 5 h processing time are the optimum conditions for ADM preparation and the material showed good biocompatibility. Our results suggested that the potential of developing this kind of decellularization process to manufacture ADM scaffolds for clinical application.
Chemical Characteristics and Oxidative Stability of Buffalo Mozzarella Cheese Produced with Fresh and Frozen Curd

Milk and dairy products can have variable contents of antioxidant compounds that contribute to counteract the oxidation of lipids and proteins during processing and storage. The content of active antioxidant compounds is closely linked to their protection by oxidation. Freezing is one of the factors that can reduce antioxidant activity. Freezing of milk or curd is frequently used in case of the seasonality of milk production and/or seasonal increased demand for some products. In this paper, the effect of using frozen curd on the oxidative stability of buffalo Mozzarella cheese was evaluated. Samples of buffalo Mozzarella with different frozen curd content (0%, 5%, 20%, and 50%) were produced and analyzed at one and nine days. Mozzarella cheese with higher frozen curd content had a significant increase in redox potential parallel to the decrease in antioxidant activity, showing less protection from oxidation. Lipid and protein oxidation, expressed respectively by malondialdehyde and carbonyl content, increased significantly with increasing frozen curd. At nine days, carbonyls significantly increased while malondialdehyde content did not vary, showing that during storage, fat was more protected from oxidation than protein. The average carbonyl levels were comparable to those of some cooked cheeses, and the malondialdehyde levels were even lower. The results of this study stimulate the investigation of new strategies to decrease the oxidative damage in cheeses produced in the presence of factors decreasing oxidative stability.
Fabrication and Compressive Behavior of a Micro-Lattice Composite by High Resolution DLP Stereolithography

Lattice structures are superior to stochastic foams in mechanical properties and are finding increasing applications. Their properties can be tailored in a wide range through adjusting the design and dimensions of the unit cell, changing the constituent materials as well as forming into hierarchical structures. In order to achieve more levels of hierarchy, the dimensions of the fundamental lattice have to be small enough. Although lattice size of several microns can be fabricated using the two-photon polymerization technique, sophisticated and costly equipment is required. To balance cost and performance, a low-cost high resolution micro-stereolithographic system has been developed in this work based on a commercial digital light processing (DLP) projector. Unit cell lengths as small as 100 μm have been successfully fabricated. Decreasing the unit cell size from 150 to 100 μm increased the compressive stiffness by 26%. Different pretreatments to facilitate the electroless plating of nickel on the lattice structure have been attempted. A pretreatment of dip coating in a graphene suspension is the most successful and increased the strength and stiffness by 5.3 and 3.6 times, respectively. Even a very light and incomplete nickel plating in the interior has increase the structural stiffness and strength by more than twofold.
XPS, SEM and XRD investigations of CdSe films prepared by chemical bath deposition

Chemical bath deposition (CBD), a direct low cost technique that involves a cadmium salt solution, a complexing agent and a chalcogen source, was used to prepare CdSe semiconductor films. The most favourable conditions for acceptable quality CdSe films grown on glass were obtained. Commercially available microscope glass slides (with a size of 1 cm × 1 cm × 1 mm) were used as substrates to deposit CdSe films. CdSe films were deposited in a freshly prepared aqueous solution containing CdSO4 (0.2–0.4 M), NH4OH (3.8–14 M) as a complexing agent for slow release of Cd2+ ions, and Na2SeSO3 (0.118 and 0.16) as a source of Se2– ions. The solutions were prepared in deionized water. The glass slides were immersed in a mixture of CdSO4–NH4OH for 5 min before the solution of Na2SeSO3 was added. The bath temperature varied from 20 to 60 °C. Structural and morphological quality of the films was analyzed by XRD, SEM, EDS, and XPS. The results show that the crystallinity of the CdSe films as‐deposited is improved by increasing temperature. The initial growth stages of CdSe films at 20 and 60 °C start on CdOx and Cd(OH)2 buffer layers respectively. (© 2005 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Transcatheter aortic valve implantation in a 13-year-old child with end-stage heart failure: a case report

Abstract Background Left ventricular non-compaction cardiomyopathy (LVNC) has been reported in association with almost all types of congenital heart valve disease. The presence of LVNC-related ventricular dysfunction increases the perioperative risk in these patients. The advantages of transcatheter treatment modalities outweigh those of surgical strategies, as they avoid cardioplegic arrest and myocardial trauma. To our knowledge, there have been no reports on transcatheter treatment of pure aortic regurgitation in patients with a bicuspid aortic valve (BAV) and concomitant LVNC. Case summary In this article, we present the case of a 13-year-old boy with a regurgitant BAV and concomitant LVNC who presented with end-stage heart failure and severe pulmonary hypertension. As a bridge to definitive therapy, the patient underwent an uneventful transcatheter aortic valve implantation (TAVI) using a 26-mm balloon-expandable prosthesis. Device success without paravalvular regurgitation was achieved. At 17 months of follow-up, a steady reduction in pulmonary arterial pressure, persistent normalization of systolic left ventricular function and a tremendous improvement in the patient’s physical resilience was observed. The initially considered heart–lung transplantation was avoided and will not be necessary. Discussion To the best of our knowledge, this is the first case performed with TAVI for BAV regurgitation in the context of LVNC. With technical modifications and appropriate planning, TAVI in paediatric patients with a non-calcified BAV is feasible. Different imaging modalities revealed an intriguing relationship between aortic regurgitation and morphological signs of a left ventricular non-compaction myocardium.
Evaluating the potential of an amelogenin-derived peptide in tertiary dentin formation

Abstract Several novel biomaterials have been developed for dental pulp capping by inducing tertiary dentin formation. The aim of this study was to evaluate the effect of QP5, an amelogenin-based peptide, on the mineralization of dental pulp cells (DPCs) in vitro and in vivo. The cell viability of human DPCs (hDPCs) after treatment with QP5 was determined using the Cell Counting Kit-8 (CCK-8). Migration of hDPCs was assessed using scratch assays, and the pro-mineralization effect was determined using alkaline phosphatase (ALP) staining, alizarin red staining and the expression of mineralization-related genes and proteins. The results showed that QP5 had little effect on the cell viability, and significantly enhanced the migration capability of hDPCs. QP5 promoted the formation of mineralized nodules, and upregulated the activity of ALP, the expression of mRNA and proteins of mineralization-related genes. A pulp capping model in rats was generated to investigate the biological effect of QP5. The results of micro-computed tomography and haematoxylin and eosin staining indicated that the formation of tertiary dentin in QP5-capping groups was more prominent than that in the negative control group. These results indicated the potential of QP5 as a pulp therapy agent.
A Web Server for Designing Molecular Switches Composed of Two Interacting RNAs

The programmability of RNA–RNA interactions through intermolecular base-pairing has been successfully exploited to design a variety of RNA devices that artificially regulate gene expression. An in silico design for interacting structured RNA sequences that satisfies multiple design criteria becomes a complex multi-objective problem. Although multi-objective optimization is a powerful technique that explores a vast solution space without empirical weights between design objectives, to date, no web service for multi-objective design of RNA switches that utilizes RNA–RNA interaction has been proposed. We developed a web server, which is based on a multi-objective design algorithm called MODENA, to design two interacting RNAs that form a complex in silico. By predicting the secondary structures with RactIP during the design process, we can design RNAs that form a joint secondary structure with an external pseudoknot. The energy barrier upon the complex formation is modeled by an interaction seed that is optimized in the design algorithm. We benchmarked the RNA switch design approaches (MODENA+RactIP and MODENA+RNAcofold) for the target structures based on natural RNA-RNA interactions. As a result, MODENA+RactIP showed high design performance for the benchmark datasets.
Clinical and Research Solutions to Manage Obstructive Sleep Apnea: A Review

Obstructive sleep apnea (OSA), a common sleep disorder disease, affects millions of people. Without appropriate treatment, this disease can provoke several health-related risks including stroke and sudden death. A variety of treatments have been introduced to relieve OSA. The main present clinical treatments and undertaken research activities to improve the success rate of OSA were covered in this paper. Additionally, guidelines on choosing a suitable treatment based on scientific evidence and objective comparison were provided. This review paper specifically elaborated the clinically offered managements as well as the research activities to better treat OSA. We analyzed the methodology of each diagnostic and treatment method, the success rate, and the economic burden on the world. This review paper provided an evidence-based comparison of each treatment to guide patients and physicians, but there are some limitations that would affect the comparison result. Future research should consider the consistent follow-up period and a sufficient number of samples. With the development of implantable medical devices, hypoglossal nerve stimulation systems will be designed to be smart and miniature and one of the potential upcoming research topics. The transcutaneous electrical stimulation as a non-invasive potential treatment would be further investigated in a clinical setting. Meanwhile, no treatment can cure OSA due to the complicated etiology. To maximize the treatment success of OSA, a multidisciplinary and integrated management would be considered in the future.
A Synergic Potential of Antimicrobial Peptides against Pseudomonas syringae pv. actinidiae

Pseudomonas syringae pv. actinidiae (Psa) is the pathogenic agent responsible for the bacterial canker of kiwifruit (BCK) leading to major losses in kiwifruit productions. No effective treatments and measures have yet been found to control this disease. Despite antimicrobial peptides (AMPs) having been successfully used for the control of several pathogenic bacteria, few studies have focused on the use of AMPs against Psa. In this study, the potential of six AMPs (BP100, RW-BP100, CA-M, 3.1, D4E1, and Dhvar-5) to control Psa was investigated. The minimal inhibitory and bactericidal concentrations (MIC and MBC) were determined and membrane damaging capacity was evaluated by flow cytometry analysis. Among the tested AMPs, the higher inhibitory and bactericidal capacity was observed for BP100 and CA-M with MIC of 3.4 and 3.4–6.2 µM, respectively and MBC 3.4–10 µM for both. Flow cytometry assays suggested a faster membrane permeation for peptide 3.1, in comparison with the other AMPs studied. Peptide mixtures were also tested, disclosing the high efficiency of BP100:3.1 at low concentration to reduce Psa viability. These results highlight the potential interest of AMP mixtures against Psa, and 3.1 as an antimicrobial molecule that can improve other treatments in synergic action.
Gene-activated matrix harboring a miR20a-expressing plasmid promotes rat cranial bone augmentation

Abstract Gene-activated matrix (GAM) has a potential usefulness in bone engineering as an alternate strategy for the lasting release of osteogenic proteins but efficient methods to generate non-viral GAM remain to be established. In this study, we investigated whether an atelocollagen-based GAM containing naked-plasmid (p) DNAs encoding microRNA (miR) 20a, which may promote osteogenesis in vivo via multiple pathways associated with the osteogenic differentiation of mesenchymal stem/progenitor cells (MSCs), facilitates rat cranial bone augmentation. First, we confirmed the osteoblastic differentiation functions of generated pDNA encoding miR20a (pmiR20a) in vitro, and its transfection regulated the expression of several of target genes, such as Bambi1 and PPARγ, in rat bone marrow MSCs and induced the increased expression of BMP4. Then, when GAMs fabricated by mixing 100 μl of 2% bovine atelocollagen, 20 mg β-TCP granules and 0.5 mg (3.3 μg/μl) AcGFP plasmid-vectors encoding miR20a were transplanted to rat cranial bone surface, the promoted vertical bone augmentation was clearly recognized up to 8 weeks after transplantation, as were upregulation of VEGFs and BMP4 expressions at the early stages of transplantation. Thus, GAM-based miR delivery may provide an alternative non-viral approach by improving transgene efficacy via a small sequence that can regulate the multiple pathways.
Supplementing with L-Tryptophan Increases Medium Protein and Alters Expression of Genes and Proteins Involved in Milk Protein Synthesis and Energy Metabolism in Bovine Mammary Cells

The objective of this study was to investigate the effects of supplementing with L-tryptophan (L-Trp) on milk protein synthesis using an immortalized bovine mammary epithelial (MAC-T) cell line. Cells were treated with 0, 0.3, 0.6, 0.9, 1.2, and 1.5 mM of supplemental L-Trp, and the most efficient time for protein synthesis was determined by measuring cell, medium, and total protein at 0, 24, 48, 72, and 96 h. Time and dose tests showed that the 48 h incubation time and a 0.9 mM dose of L-Trp were the optimal values. The mechanism of milk protein synthesis was elucidated through proteomic analysis to identify the metabolic pathway involved. When L-Trp was supplemented, extracellular protein (medium protein) reached its peak at 48 h, whereas intracellular cell protein reached its peak at 96 h with all L-Trp doses. β-casein mRNA gene expression and genes related to milk protein synthesis, such as mammalian target of rapamycin (mTOR) and ribosomal protein 6 (RPS6) genes, were also stimulated (p < 0.05). Overall, there were 51 upregulated and 59 downregulated proteins, many of which are involved in protein synthesis. The results of protein pathway analysis showed that L-Trp stimulated glycolysis, the pentose phosphate pathway, and ATP synthesis, which are pathways involved in energy metabolism. Together, these results demonstrate that L-Trp supplementation, particularly at 0.9 mM, is an effective stimulus in β-casein synthesis by stimulating genes, proteins, and pathways related to protein and energy metabolism.
The Impact of COVID-19 Pandemic on Lung Cancer Community

Since the outbreak of 2019 novel coronavirus disease (COVID-19) induced by a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the pandemic has become a global catastrophe. Patients with cancer especially lung cancer are more vulnerable and susceptible to get infected by the virus SARS-CoV-2. The overwhelming impact of COVID-19 on lung cancer community may result in rise of the incidence and mortality of lung cancer. It would become more obvious in future retrospective studies. Lung cancer patients are believed at higher risk of COVID-19 due to immunosuppression and should be protected by vaccination with priority. Better understanding of SARS-CoV-2 could help develop more effective vaccines to eradicate this disease in the near future.
Identification of Patients with Sarcopenia Using Gait Parameters Based on Inertial Sensors

Sarcopenia can cause various senile diseases and is a major factor associated with the quality of life in old age. To diagnose, assess, and monitor muscle loss in daily life, 10 sarcopenia and 10 normal subjects were selected using lean mass index and grip strength, and their gait signals obtained from inertial sensor-based gait devices were analyzed. Given that the inertial sensor can measure the acceleration and angular velocity, it is highly useful in the kinematic analysis of walking. This study detected spatial-temporal parameters used in clinical practice and descriptive statistical parameters for all seven gait phases for detailed analyses. To increase the accuracy of sarcopenia identification, we used Shapley Additive explanations to select important parameters that facilitated high classification accuracy. Support vector machines (SVM), random forest, and multilayer perceptron are classification methods that require traditional feature extraction, whereas deep learning methods use raw data as input to identify sarcopenia. As a result, the input that used the descriptive statistical parameters for the seven gait phases obtained higher accuracy. The knowledge-based gait parameter detection was more accurate in identifying sarcopenia than automatic feature selection using deep learning. The highest accuracy of 95% was achieved using an SVM model with 20 descriptive statistical parameters. Our results indicate that sarcopenia can be monitored with a wearable device in daily life.