Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.

: Angiogenesis is involved in the pathogenesis of hereditary hemorrhagic telangiectasia (HHT). VEGF, ANG2, TGFβ1, and ENG are the most studied angiogenic factors, but their clinical significance in blood samples is still not completely defined. The genetic study of HHT mutations is the test of choice for diagnosing the disease, but this route is expensive, and the causative mutation is not found in up to 10% of cases.

Determining the Relationship Between Corneal Stiffening and Tissue Dehydration After Corneal Cross-Linking.

Purpose: To quantify corneal cross-linking (CXL)-induced stiffening via mechanical testing to estimate the impact of changes in hydration levels (H) and evaluate depth-dependent tissue hydration after CXL.

Methods: Eighty-three porcine corneal buttons were divided into three groups: Standard protocol CXL (S-CXL), accelerated CXL (A-CXL), and untreated (nonirradiated riboflavin-only) controls. Samples were hydrated or dehydrated to modulate H and dynamic mechanical analyzer compression tests were performed to measure Young's modulus (E).

Insights into the pathophysiology and response of persistent spinal pain syndrome type 2 to spinal cord stimulation: a human genome-wide association study.

Background: Spinal cord stimulation (SCS) provides pain relief for some patients with persistent spinal pain syndrome type 2 (PSPS 2), but the precise mechanisms of action and prognostic factors for a favorable pain response remain obscure. This in vivo human genome-wide association study provides some pathophysiological clues.

Methods: We performed a high-density oligonucleotide microarray analysis of serum obtained from both PSPS 2 cases and pain-free controls who had undergone lower back spinal surgery at the study site.

Diversity of oncopharmacogenetic profile within Spanish population.

Consensus guidelines for genotype-guided fluoropyrimidine dosing based on variation in the dihydropyrimidine dehydrogenase (DPYD) gene before treatment have been firmly established. The prior pharmacogenetic report avoids the serious toxicity that inevitably occurred in a non-negligible percentage of the treated patients. The precise description of the allelic distribution of the variants of interest in our reference populations is information of great interest for the management of the prescription of these antineoplastic drugs.

Network Viscoelasticity from Brillouin Spectroscopy.

Even though the physical nature of shear and longitudinal moduli are different, empirical correlations between them have been reported in several biological systems. This correlation is of fundamental interest and immense practical value in biomedicine due to the importance of the shear modulus and the possibility to map the longitudinal modulus at high-resolution with all-optical spectroscopy. We investigate the origin of such a correlation in hydrogels.

Effect of Conventional Spinal Cord Stimulation on Serum Protein Profile in Patients With Persistent Spinal Pain Syndrome: A Case-Control Study.

Background: Spinal cord stimulation (SCS) provides pain relief for most patients with persistent spinal pain syndrome type 2 (PSPS 2). Evidence is mounting on molecular changes induced by SCS as one of the mechanisms to explain pain improvement. We report the SCS effect on serum protein expression in vivo in patients with PSPS 2.

Prenatal genetic diagnosis of monogenic diseases.

Prenatal genetic diagnosis of monogenic diseases is a process involving the use of a variety of molecular techniques for the molecular characterization of a potential monogenic disease in the fetus during pregnancy. Prenatal genetic diagnosis can be performed through invasive and non-invasive methods. A distinction must be made between "NIPD" (non-invasive prenatal diagnosis), which is considered to be diagnostic, from "NIPT" (non-invasive prenatal test), which is a screening test that requires subsequent confirmation by invasive methods.

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of Deficiency.

Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic variants in (Xq12-13.

Homozygous Pro1066Arg Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

and are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.

[Translated article] Implementation of a rapid recovery protocol in total knee arthroplasty. A randomised controlled trial.

Background: Rapid recovery (RP) in total knee arthroplasty may increase the functionality while reducing costs. The aim of this study is to prove the benefits of a rapid recovery programme compared to our classic protocol.

Patients And Methods: We performed a RCT (NCT03823573) in patients undergoing otal knee arthroplasty.

Differential equations of arbitrary order under Caputo-Fabrizio derivative: some existence results and study of stability.

In this work, we consider the problem of the existence and uniqueness of solution, and also the simple existence of solution, for implicit differential equations of arbitrary order involving Caputo-Fabrizio derivative. The main tools for this study are contraction mapping principle and Schaefer's fixed point result. We also study the stability of the equations in the sense of Ulam-Hyers and also from the perspective of Ulam-Hyers-Rassias.

Valued attributes of professional support for people who repeatedly self-harm: A systematic review and meta-synthesis of first-hand accounts.

Therapeutic interventions are an important adjunct to self-help strategies for people who self-harm. There is little guidance for those offering therapy on the effective components of interventions for people who self-harm. This was a systematic review aiming to identify the factors that contribute to positive experiences of therapy as described by people who have reduced or stopped self-harm.

Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye.

Purpose: To report 12-year follow-up of a patient with ARB.

Case Report: A 25-year-old man presented with blurred vision in his both eyes (OU). Best-corrected visual acuity (BCVA) was 20/63 Snellen equivalent in the right eye (OD) and 20/32 Snellen equivalent in the left eye.

Determinants of therapeutic success of corticoids injections in trigger finger syndrome.

Background And Objective: Trigger finger is a frequent complaint in which corticosteroid infiltrations play a relevant therapeutic role in intermediate degrees of severity when conservative treatment has not worked. However, there are no criteria to select which patients will benefit most from this procedure. The present study aimed to identify the factors leading to the therapeutic success of corticosteroid infiltration in these patients.

Delivering brief physical activity interventions in primary care: a systematic review.

Background: Physical activity (PA) brief interventions (BIs) involving screening and/or advice are recommended in primary care but frequency of delivery is unknown.

Aim: To examine the extent to which PA BIs are delivered in primary care, and explore factors associated with delivery, receipt, and patient receptivity.

Design And Setting: A mixed-methods systematic review of studies conducted worldwide, with a narrative synthesis of results.

Aspirin use for cancer prevention: A systematic review of public, patient and healthcare provider attitudes and adherence behaviours.

We undertook a systematic review to synthesise the data on attitudes and behaviour towards the use of aspirin for cancer prevention, and healthcare providers' attitudes towards implementing aspirin in practice. Searches were carried out across 12 databases (e.g.

Effects of DC Magnetic Fields on Magnetoliposomes.

The potential use of magnetic nanoparticles (MNPs) in biomedicine as magnetic resonance, drug delivery, imagenology, hyperthermia, biosensors, and biological separation has been studied in different laboratories. One of the challenges on MNP elaboration for biological applications is the size, biocompatibility, heat efficiency, stabilization in physiological conditions, and surface coating. Magnetoliposome (ML), a lipid bilayer of phospholipids encapsulating MNPs, is a system used to reduce toxicity.

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations. Complete and partial JBS are differentiated depending on which functional and causal genes are haploinsufficient in the patient.

Implementation of a rapid recovery protocol in total knee arthroplasty. A randomized controlled trial.

Background: Rapid recovery (RP) in total knee arthroplasty may increase the functionality while reducing costs. The aim of this study is to prove the benefits of a rapid recovery program compared to our classic protocol.

Patients And Methods: We performed a RCT (NCT03823573) in patients undergoing otal knee arthroplasty.

Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with β-thalassemia have previously been reported in the literature in patients with β-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE. The case is presented of a 10-year-old boy with β-thalassaemia minor and characteristic lesions of PXE.

Differences in Gene Expression of Endogenous Opioid Peptide Precursor, Cannabinoid 1 and 2 Receptors and Interleukin Beta in Peripheral Blood Mononuclear Cells of Patients With Refractory Failed Back Surgery Syndrome Treated With Spinal Cord Stimulation: Markers of Therapeutic Outcomes?

Objective: The use of spinal cord stimulation for patients with failed back surgery syndrome (FBSS) is very common. In order to better understand the mechanisms of action of spinal cord stimulation (SCS), our aim was to determine potential changes in relative gene and protein expression in the peripheral blood mononuclear cells (PBMCs) of patients as potential biomarkers of disease outcomes and potential new targets for therapy.

Methods: Twenty-four patients with diagnosis of FBSS refractory to conservative therapy for at least six months were included in the study.