Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

Secondary haematological dysplasia after CAR-T-cell therapy for acute lymphoblastic leukaemia in children.

The use of CAR-T is becoming more widespread in the treatment of haematological malignancies. In adults, secondary myelodysplastic syndromes (MDS) after CAR-T have been described. However, there are currently no data on the risk of MDS following CAR-T in children treated for acute lymphoblastic leukaemia (ALL).

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.

[Translated article] AEDVAEDV Expert Recommendations on the Management of Suppurative Sexually Transmitted Infections.

The incidence of sexually transmitted infections (STIs) is increasing in Spain. Suppurative STIs are one of the most frequent reasons for consultation in specialized centers. The reason for suppurative STIs is multiple and their empirical treatment varies with the currently growing problem of antimicrobial resistance.

Analysis of the Correspondence of the Degree of Fragility with the Way to Exercise the Force of the Hand.

Background: Frailty is a geriatric syndrome characterized by increased individual vulnerability with an increase in both dependence and mortality when exposed to external stressors. The use of Frailty Indices in routine clinical practice is limited by several factors, such as the cognitive status of the patient, times of consultation, or lack of prior information from the patient.

Objectives: In this study, we propose the generation of an objective measure of frailty, based on the signal from hand grip strength (HGS).

Risk factors and outcome of Chimeric Antigen Receptor T-Cell patients admitted to Pediatric Intensive Care Unit: CART-PICU study.

Introduction: Chimeric antigen receptor (CAR)T-cell CD19 therapy is an effective treatment for relapsed/refractory B-cell acute lymphoblastic leukemia. It can be associated with life-threatening toxicities which often require PICU admission. Purpose: to describe clinical characteristics, treatment and outcome of these patients.

A Series of 69 COVID-related Dermatoses With Biopsy, Immunohistochemistry With Anti-spike 3, in situ Hybridization and PCR: A Critical Reappraisal of Viral Involvement in COVID-19 Skin Lesions.

Background: Despite the large number of articles published on skin lesions related to COVID-19, clinicopathological correlation has not been performed consistently and immunohistochemistry to demonstrate spike 3 protein expression has not been validated through RT-PCR.

Material And Methods: We compiled 69 cases of patients with confirmed COVID-19, where skin lesions were clinically and histopathologically studied. Immunohistochemistry (IHC) and RT-PCR was performed in skin biopsies.

Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia.

RNA sequencing (RNA-seq) is a reliable tool for detecting gene fusions in acute leukemia. Multiple bioinformatics pipelines have been developed to analyze RNA-seq data, but an agreed gold standard has not been established. This study aimed to compare the applicability of 5 fusion calling pipelines (Arriba, deFuse, CICERO, FusionCatcher, and STAR-Fusion), as well as to define and develop an integrative bioinformatics pipeline (Fusion InPipe) to detect clinically relevant gene fusions in acute pediatric leukemia.

Combining cosmic-ray neutron sensor and fallout Cs to explore the connection of soil water content with soil redistribution in an agroforestry hillslope.

To ensure sustainable agricultural management, there is a need not only to quantify soil erosion rates but also to obtain information on the status of soil water content and soil loss under different soil types and land uses. A clear understanding of the temporal dynamics and the soil moisture spatial variability (SMSV) will help to control soil degradation by hydrological processes. This study represents the first attempt connecting cosmic-ray neutron sensors (CRNS) with soil erosion research, a novel approach to explore the complex relationships between soil water content (SWC) and soil redistribution processes using two of the most powerful nuclear techniques, CRNS and fallout Cs.

A Series of 69 COVID-related Dermatoses With Biopsy, Immunohistochemistry With Anti-spike 3, in situ Hybridization and PCR: A Critical Reappraisal of Viral Involvement in COVID-19 Skin Lesions.

Background: Despite the large number of articles published on skin lesions related to COVID-19, clinicopathological correlation has not been performed consistently and immunohistochemistry to demonstrate spike 3 protein expression has not been validated through RT-PCR.

Material And Methods: We compiled 69 cases of patients with confirmed COVID-19, where skin lesions were clinically and histopathologically studied. Immunohistochemistry (IHC) and RT-PCR was performed in skin biopsies.

Angiographic outcomes of embolization in patients with intracranial aneurysms with coil- assisted Laser cut stent versus braided stents.

Introduction: Intracranial aneurysms (IA) are a focal dilatation of the vessel wall, the rupture of these, causes subarachnoid hemorrhage. Until now, endovascular management is the ideal treatment, providing the interventionist a range of options among which the stent and coils embolization stands out because of its occlusion rate. This study presents the results of a retrospective cohort comparing the effectiveness, morbidity, and mortality of IA treatment with laser-cut stent-assisted coils versus braided stents.

A database of freshwater macroinvertebrate occurrence records across Cuba.

In light of the ongoing freshwater biodiversity crisis, detailed knowledge regarding the spatial distribution of freshwater species is urgently required, especially in biodiversity hotspots. Here we present a database of georeferenced occurrence records of four freshwater invertebrate taxa groups across Cuba, namely flatworms (Platyhelminthes: Tricladida), insects (Ephemeroptera, Odonata, Hemiptera, Trichoptera, Coleoptera, Diptera), crabs and shrimps (Crustacea: Decapoda), and mollusks (Mollusca). We collated the geographic occurrence information from scientific literature, unpublished field records, museum collections and online databases.

Mpox - Formerly Monkey Pox - in Dermatology: A Review of Epidemiologic Features, Clinical Presentation, Diagnosis, and Treatment.

Mpox is an emerging zoonotic disease that has spread rapidly around the world. It has been declared a public health emergency of international concern by the World Health Organization. This review is an update for dermatologists on the epidemiology, clinical presentation, diagnosis, and treatment of Mpox.

A compilation answering 50 questions on monkeypox virus and the current monkeypox outbreak.

The current monkeypox disease (MPX) outbreak constitutes a new threat and challenge for our society. With more than 55,000 confirmed cases in 103 countries, World Health Organization declared the ongoing MPX outbreak a Public Health Emergency of International Concern (PHEIC) on July 23, 2022. The current MPX outbreak is the largest, most widespread, and most serious since the diagnosis of the first case of MPX in 1970 in the Democratic Republic of the Congo (DRC), a country where MPX is an endemic disease.

Monkeypox outbreak in Spain: clinical and epidemiological findings in a prospective cross-sectional study of 185 cases.

Background: Since May 2022, a new outbreak of monkeypox has been reported in several countries, including Spain. The clinical and epidemiological characteristics of the cases in this outbreak may differ from those in earlier reports.

Objectives: To document the clinical and epidemiological characteristics of cases of monkeypox in the current outbreak.

Frequent detection of monkeypox virus DNA in saliva, semen, and other clinical samples from 12 patients, Barcelona, Spain, May to June 2022.

A monkeypox (MPX) outbreak has expanded worldwide since May 2022. We tested 147 clinical samples collected at different time points from 12 patients by real-time PCR. MPX DNA was detected in saliva from all cases, sometimes with high viral loads.

A Designer Nanoparticle Platform for Controlled Intracellular Delivery of Bioactive Macromolecules: Inhibition of Ubiquitin-Specific Protease 7 in Breast Cancer Cells.

Biological therapeutics represent an increasing and critical component of newly approved drugs; however, the inability to deliver biologics intracellularly in a controlled manner remains a major limitation. We have developed a semi-synthetic, tunable phage-like particle (PLP) platform derived from bacteriophage λ. The shell surface can be decorated with small-molecule, biological and synthetic moieties, alone or in combination and in defined ratios.