Impaired Bone Tissue Quality Associated with Inflammation in HIV-Immunological Non-Responders: A Cross-Sectional Analysis.

Introduction: People with HIV (PWH) with poor immune response despite adequate antiretroviral treatment (ART) are susceptible to non-AIDS-related health issues. This study seeks to evaluate bone quality in Immunological Non-Responders (INRs) in comparison to those with proper immune response (IRs) using in vivo microindentation to quantify bone quality, in addition to conventional bone mineral density (BMD) evaluations.

Methods: A cross-sectional study was conducted at Hospital del Mar in Barcelona from January 2019 to June 2023.

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Background: Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencing in genes involved in monogenic rare skeletal diseases in 12 women with AFF and 4 controls without any fracture.

Results: Out of 33 genetic variants identified in women with AFF, eleven (33.

Changes in bone quality after switching from a TDF to a TAF based ART: A pilot randomized study.

Background: The impact of tenofovir disoproxil fumarate (TDF) antiretroviral (ART) regimens on bone health has been characterized mostly by bone mineral density (BMD), but recently also by bone quality (BQ). The aim of this pilot study is to assess the changes in BMD and BQ after switch from TDF to tenofovir alafenamide (TAF) ART.

Methods: HIV individuals receiving TDF-based ART were randomized to switch to Bictegravir-TAF-Emtricitabine or to remain in the same regimen.

Effect of Heat Treatment on Osteoblast Performance and Bactericidal Behavior of Ti6Al4V(ELI)-3at.%Cu Fabricated by Laser Powder Bed Fusion.

Cu addition to alloys for biomedical applications has been of great interest to reduce bacterial growth. In situ-alloyed Ti6Al4V(ELI)-3at.%Cu was successfully manufactured by laser powder bed fusion (L-PBF).

Anti-SARS-COV-2 specific immunity in HIV immunological non-responders after mRNA-based COVID-19 vaccination.

Individuals infected with the human immunodeficiency virus type 1 (HIV-1) belong to the group of people most vulnerable to SARS-CoV-2 infections and the associated disease COVID-19. Here we describe SARS-CoV-2-specific antibody and cellular immune responses in a small cohort of immunological non-responder HIV-1 patients (HIV-INRs) after receiving the COVID-19 mRNA-based BioNTech/Pfizer vaccine. Compared to the control group of vaccinated healthy individuals that all developed a virus-specific immune response, 5 of 10 vaccinated HIV-1 patients showed insufficient immune responses.

Individuals With Higher CD4/CD8 Ratio Exhibit Increased Risk of Acute Respiratory Distress Syndrome and In-Hospital Mortality During Acute SARS-CoV-2 Infection.

Background: CD4/CD8 ratio has been used as a quantitative prognostic risk factor in patients with viral infections. This study aims to assess the association between in-hospital mortality and at admission CD4/CD8 ratio among individuals with acute SARS-CoV-2 infection.

Methods: This is a longitudinal cohort study with data of all consecutive patients admitted to the COVID-19 unit at Hospital del Mar, Barcelona, Spain for ≥48 h between March to May 2020.

Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

High bone mass (HBM) disorders are a clinically and genetically heterogeneous subgroup of rare skeletal dysplasias. Here we present a case of a previously unreported familial skeletal dysplasia characterized by HBM and lucent bone lesions that we aimed to clinically characterize and genetically investigate. For phenotyping, we reviewed past clinical records and imaging tests, and performed physical examination (PE), bone densitometry, and mineral panels in affected individuals, including a male proband, his son and daughter, in addition to unaffected controls, including the proband's wife and brother.

Circulating microRNA profiling is altered in the acute respiratory distress syndrome related to SARS-CoV-2 infection.

One of the hallmarks of SARS-CoV-2 infection is an induced immune dysregulation, in some cases resulting in cytokine storm syndrome and acute respiratory distress syndrome (ARDS). Several physiological parameters are altered as a result of infection and cytokine storm. Among them, microRNAs (miRNAs) might reflect this poor condition since they play a significant role in immune cellular performance including inflammatory responses.

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, bones. Both osteoporosis and high BMD are heritable and their genetic architecture encompasses polygenic inheritance of common variants and some cases of monogenic highly penetrant variants in causal genes.

Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment.

Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a genetic basis is suggested. We performed whole exome sequencing (WES) analysis of 12 patients receiving BPs for at least 5 years who sustained AFFs and 4 controls, also long-term treated with BPs but without any fracture.

In Vitro Characterization of In Situ Alloyed Ti6Al4V(ELI)-3 at.% Cu Obtained by Laser Powder Bed Fusion.

The intensive cytotoxicity of pure copper is effectively kills bacteria, but it can compromise cellular behavior, so a rational balance must be found for Cu-loaded implants. In the present study, the individual and combined effect of surface composition and roughness on osteoblast cell behavior of in situ alloyed Ti6Al4V(ELI)-3 at.% Cu obtained by laser powder bed fusion was studied.

Severe Hypoalbuminemia at Admission Is Strongly Associated with Worse Prognosis in Older Adults with SARS-CoV-2 Infection.

Unlabelled: Serum albumin levels have been associated with prognosis in several conditions among older adults. The aim of this study is to assess the prognostic value in mortality of serum albumin in older adults with SARS-CoV-2 infection.

Methods: Cohort observational study with consecutive older-adults (≥65 years old), with confirmed SARS-CoV-2 infection admitted to a university hospital between March-May 2020.

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.

Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying genetic defect contributing to either low or high bone mass phenotype. Extensive, deep phenotyping coupled with high-throughput, cost-effective genotyping is crucial in the characterization and diagnosis of affected individuals.

Prevalence and Prognostic Value of in the Initial Presentation of SARS-CoV-2 Infection among Older Adults.

Myocardial involvement during SARS-CoV-2 infection has been reported in many prior publications. We aim to study the prevalence and the clinical implications of acute myocardial injury (MIN) during SARS-CoV-2 infection, particularly in older patients. The method includes a longitudinal observational study with all consecutive adult patients admitted to a COVID-19 unit between March-April 2020.

Functional Analyses of Four Missense Mutations Present in Patients with Atypical Femoral Fractures.

Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a rare adverse effect, may appear after prolonged BP administration. Given the low incidence of AFF, an underlying genetic cause that increases the susceptibility to these fractures is suspected.

Calcifediol Treatment and COVID-19-Related Outcomes.

Context: COVID-19 is a major health problem because of saturation of intensive care units (ICU) and mortality. Vitamin D has emerged as a potential treatment able to reduce the disease severity.

Objective: This work aims to elucidate the effect of 25(OH)D3 (calcifediol) treatment on COVID-19-related outcomes.

Low Zinc Levels at Admission Associates with Poor Clinical Outcomes in SARS-CoV-2 Infection.

Background: Zinc is an essential micronutrient that impacts host-pathogen interplay at infection. Zinc balances immune responses, and also has a proven direct antiviral action against some viruses. Importantly, zinc deficiency (ZD) is a common condition in elderly and individuals with chronic diseases, two groups with an increased risk for severe severe coronavirus disease 2019 (COVID-19) outcomes.

Genetics and Genomics of : Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal development and bone homeostasis. The objective of this work was to assess the functionality of two variants previously identified (the rare variant rs570754792 and the missense variant p.Val10Ile) and to investigate the physical interactors of the proximal promoter region in bone cells.

Functional Assessment of Coding and Regulatory Variants From the Locus.

The gene encodes an extracellular inhibitor of the Wnt pathway with an important role in bone tissue development, bone homeostasis, and different critical aspects of bone biology. Several BMD genome-wide association studies (GWASs) have consistently found association with SNPs in the genomic region. For these reasons, it is important to assess the functionality of coding and regulatory variants in the gene.

Bone density, microarchitecture and tissue quality after 1 year of treatment with dolutegravir/abacavir/lamivudine.

Background: Bone mineral density (BMD) decreases with ART initiation with a tenofovir disoproxil fumarate-containing regimen, although bone tissue quality increases. The impact of dolutegravir (DTG)/abacavir (ABC)/lamivudine (3TC)-based ART initiation on bone health parameters is not clear.

Objectives: To study the impact of DTG/ABC/3TC-based therapy on bone health parameters in ART-naive individuals with HIV after 48 weeks of treatment.