Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

Trinucleon Electromagnetic Form Factors and the Light-Front Hamiltonian Dynamics

This contribution briefly illustrates preliminary calculations of the electromagnetic form factors of $^3$He and $^3$H, obtained within the Light-front Relativistic Hamiltonian Dynamics, adopting i) a Poincar\'e covariant current operator, without dynamical two-body currents, and ii) realistic nuclear bound states with $S$, $P$ and $D$ waves. The kinematical region of few $(GeV/c)^2$, relevant for forthcoming TJLAB experiments, has been investigated, obtaining possible signatures of relativistic effects for $Q^2>2.5 ~(GeV/c)^2$.Comment: 8 Pages, 7 figures, aipproc.cls included. Proceedings of VIth Intl. Conf. on "Perspectives in Hadronic Physics", Trieste, May 2008. AIP serie

Chemically Induced Mismatch of Rings and Stations in [3]Rotaxanes

The mechanical interlocking of molecular components can lead to the appearance of novel and unconventional properties and processes, with potential relevance for applications in nanoscience, sensing, catalysis, and materials science. We describe a [3]rotaxane in which the number of recognition sites available on the axle component can be changed by acid-base inputs, encompassing cases in which this number is larger, equal to, or smaller than the number of interlocked macrocycles. These species exhibit very different properties and give rise to a unique network of acid-base reactions that leads to a fine pKa tuning of chemically equivalent acidic sites. The rotaxane where only one station is available for two rings exhibits a rich coconformational dynamics, unveiled by an integrated experimental and computational approach. In this compound, the two crown ethers compete for the sole recognition site, but can also come together to share it, driven by the need to minimize free energy without evident inter-ring interactions

Surgical management of focal chondral defects of the knee: a Bayesian network meta-analysis.

BACKGROUND: Focal chondral defects of the knee are common. Several surgical techniques have been proposed for the management of chondral defects: microfractures (MFX), osteochondral autograft transplantation (OAT), autologous matrix-induced chondrogenesis (AMIC) and autologous chondrocyte implantation (ACI)-first generation (pACI), second generation (cACI) and third generation (mACI). A Bayesian network meta-analysis was conducted to compare these surgical strategies for chondral defects in knee at midterm follow-up. METHODS: This Bayesian network meta-analysis was conducted according to the PRISMA extension statement for reporting of systematic reviews incorporating network meta-analyses of health care interventions. PubMed, Google Scholar, Embase and Scopus databases were accessed in July 2021. All the prospective comparative clinical trials investigating two or more surgical interventions for chondral defects of the knee were accessed. The network meta-analyses were performed through a Bayesian hierarchical random-effects model analysis. The log odds ratio (LOR) effect measures were used for dichotomic variables, while the standardized mean difference (SMD) for the continuous variables. RESULTS: Data from 2220 procedures (36 articles) were retrieved. The median follow-up was 36 (24 to 60) months. The ANOVA test found good baseline comparability between symptoms duration, age, sex and body mass index. AMIC resulted in higher Lysholm score (SMD 3.97) and Tegner score (SMD 2.10). AMIC demonstrated the lowest rate of failures (LOR -0.22) and the lowest rate of revisions (LOR 0.89). As expected, MFX reported the lower rate of hypertrophy (LOR -0.17) followed by AMIC (LOR 0.21). No statistically significant inconsistency was found in the comparisons. CONCLUSION: AMIC procedure for focal chondral defects of the knee performed better overall at approximately 3 years' follow-up

Impact of tourniquet during knee arthroplasty: a bayesian network meta-analysis of peri-operative outcomes.

INTRODUCTION: The role of tourniquet during knee arthroplasty is controversial. The present study compares various tourniquet protocols using a Bayesian network meta-analysis of peri-operative data. MATERIAL AND METHODS: The present study was conducted in accordance with the PRISMA extension statement for reporting systematic reviews incorporating network meta-analyses of health interventions. The literature search was conducted in September 2020. All clinical trials investigating the role of tourniquet in knee arthroplasty were considered for inclusion. Methodological quality was assessed using Review Manager 5.3. A Bayesian hierarchical random-effects model analysis was used in all comparisons. RESULTS: Ultimately, pooled data from 68 studies (7413 procedures) were analysed. Significant inconsistency was found in the data relating to total estimated blood lost; no assumption could be made on this outcome. Full-time tourniquet resulted in the shortest surgical duration and lowest intra-operative blood lost, in both cases followed by incision-to-suture. The incision-to-suture protocol achieved the smallest drop in haemoglobin during the first 72 h post-operatively and the lowest rate of blood transfusion, both followed by full-time tourniquet. Hospitalisation was shortest in the absence (no-tourniquet) group, followed by the cementation-to-end group. CONCLUSION: For knee arthroplasty, longer tourniquet use is associated with the shorter duration of surgery, lower intra-operative blood lost, lower drops in haemoglobin and fewer transfusion units. The shortest average hospitalisation was associated with no tourniquet use

Relativistic Hamiltonian Dynamics and Few-Nucleon Systems

We present a preliminary calculation of the electromagnetic form factors of $^3$He and $^3$H, performed within the Light-Front Hamiltonian Dynamics. Relativistic effects show their relevance even at the static limit, increasing at higher values of momentum transfer, as expected.Comment: 6 pages, 4 figures. Proceedings of 20th European Conference on Few-Body Problems in Physics; to be published in Few-Body System

Molecular Mechanisms and Physiological Changes behind Benign Tracheal and Subglottic Stenosis in Adults

Laryngotracheal stenosis (LTS) is a complex and heterogeneous disease whose pathogenesis remains unclear. LTS is considered to be the result of aberrant wound-healing process that leads to fibrotic scarring, originating from different aetiology. Although iatrogenic aetiology is the main cause of subglottic or tracheal stenosis, also autoimmune and infectious diseases may be involved in causing LTS. Furthermore, fibrotic obstruction in the anatomic region under the glottis can also be diagnosed without apparent aetiology after a comprehensive workup; in this case, the pathological process is called idiopathic subglottic stenosis (iSGS). So far, the laryngotracheal scar resulting from airway injury due to different diseases was considered as inert tissue requiring surgical removal to restore airway patency. However, this assumption has recently been revised by regarding the tracheal scarring process as a fibroinflammatory event due to immunological alteration, similar to other fibrotic diseases. Recent acquisitions suggest that different factors, such as growth factors, cytokines, altered fibroblast function and genetic susceptibility, can all interact in a complex way leading to aberrant and fibrotic wound healing after an insult that acts as a trigger. However, also physiological derangement due to LTS could play a role in promoting dysregulated response to laryngo-tracheal mucosal injury, through biomechanical stress and mechanotransduction activation. The aim of this narrative review is to present the state-of-the-art knowledge regarding molecular mechanisms, as well as mechanical and physio-pathological features behind LTS

Allograft Versus Autograft Osteochondral Transplant for Chondral Defects of the Talus: Systematic Review and Meta-analysis.

BACKGROUND: It is unclear whether the results of osteochondral transplant using autografts or allografts for talar osteochondral defect are equivalent. PURPOSE: A systematic review of the literature was conducted to compare allografts and autografts in terms of patient-reported outcome measures (PROMs), MRI findings, and complications. STUDY DESIGN: Systematic review; Level of evidence, 4. METHODS: This study was conducted according to the PRISMA guidelines. The literature search was conducted in February 2021. All studies investigating the outcomes of allograft and/or autograft osteochondral transplant as management for osteochondral defects of the talus were accessed. The outcomes of interest were visual analog scale (VAS) score for pain, American Orthopaedic Foot and Ankle Society (AOFAS) score, and Magnetic Resonance Observation of Cartilage Repair Tissue (MOCART) score. Data concerning the rates of failure and revision surgery were also collected. Continuous data were analyzed using the mean difference (MD), whereas binary data were evaluated with the odds ratio (OR) effect measure. RESULTS: Data from 40 studies (1174 procedures) with a mean follow-up of 46.5 ± 25 months were retrieved. There was comparability concerning the length of follow-up, male to female ratio, mean age, body mass index, defect size, VAS score, and AOFAS score (P > .1) between the groups at baseline. At the last follow-up, the MOCART (MD, 10.5; P = .04) and AOFAS (MD, 4.8; P = .04) scores were better in the autograft group. The VAS score was similar between the 2 groups (P = .4). At the last follow-up, autografts demonstrated lower rate of revision surgery (OR, 7.2; P < .0001) and failure (OR, 5.1; P < .0001). CONCLUSION: Based on the main findings of the present systematic review, talar osteochondral transplant using allografts was associated with higher rates of failure and revision compared with autografts at midterm follow-up