Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.

Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.

[Impact of the new intervention model to increase vaccination coverage in Paraguay, 2023Impacto de um novo modelo de ação para aumentar as coberturas vacinais no Paraguai, 2023].

Objective: To describe the impact of the new intervention model implemented by Paraguay across five districts of the Central Region in the last quarter of 2023, consisting of an integrated health services-based strategy to recover coverage with the tracer vaccine (pentavalent until April 2023, hexavalent thereafter) in children under 1 year of age; and the measles, mumps, and rubella (MMR) vaccine for the 1-year-old population.

Methods: Descriptive, cross-sectional study with comparative analysis before (epidemiological weeks [EW] 1 and 34 of 2023) and after (EW35 and EW52 of 2023) the intervention. Three indicators were assessed: a) coverage with all three doses of pentavalent or hexavalent vaccine and first and second doses of MMR; b) productivity, represented by third doses of pentavalent or hexavalent vaccine administered; and c) dropout rates for the pentavalent or hexavalent and MMR vaccines.

Salvage Therapy with Second-Generation Inhibitors for FLT3 Mutated Acute Myeloid Leukemia: A Real-World Study by the CETLAM and PETHEMA Groups.

Background/objectives: Patients with relapsed/refractory (R/R) AML with mutation () have a dismal prognosis. offers a target for therapy in these patients. Gilteritinib (gilter) and quizartinib (quizar) have demonstrated efficacy as single agents in two phase 3 clinical trials.

Prognosis and cardiotoxicity associated to adjuvant trastuzumab for breast cancer: real world study in a public health system.

Objective: To analyze the prognosis of patients with breast cancer who developed trastuzumab-induced cardiotoxicity and to analyze factors associated with and resulting from cardiotoxicity.

Methods: This was a retrospective cohort study that included 255 HER2-positive breast cancer patients who received adjuvant trastuzumab therapy. The inclusion criteria were a diagnosis of HER2-positive breast cancer and adjuvant trastuzumab therapy; disease stage I-III; <70 years; and a baseline echocardiogram showing a left ventricular ejection fraction (LVEF) ≥ 55%.

T Cell Homeostasis Disturbances in a Cohort of Long-Term Elite Controllers of HIV Infection.

Elite controllers (ECs) are people living with HIV (PLWH) able to control HIV replication without antiretroviral therapy and have been proposed as a model of a functional HIV cure. Much evidence suggests that this spontaneous control of HIV has a cost in terms of T cell homeostasis alterations. We performed a deep phenotypic study to obtain insight into T cell homeostasis disturbances in ECs maintaining long-term virologic and immunologic control of HIV (long-term elite controllers; LTECs).

Characteristics and rates of infection by HIV in people receiving non-occupational post-exposure prophylaxis (nPEP) against HIV.

Introduction/objectives: The use of non-occupational post-exposure prophylaxis (nPEP) emerges as a strategic intervention to reduce HIV infection risk following sexual encounters in our setting. Notwithstanding, there is a scarcity of contemporary data regarding adherence to this treatment, its effectiveness and tolerance. Our study aims to delve into these factors among individuals who have resorted to nPEP after high-risk sexual encounters.

Can resistance prehabilitation training bring additional benefits in valvular cardiac surgery? protocol for a randomized controlled trial.

Introduction: Cardiovascular diseases (CVD) are a group of illnesses that include coronary heart disease, cerebrovascular disease, congenital heart disease and deep vein thrombosis. Major surgery is often chosen as the treatment of choice for CVD. The concept of fast-track rehabilitation after surgery appeared in the 1970s.

A specific natural killer cells phenotypic signature associated to long term elite control of HIV infection.

Elite controllers (ECs) are an exceptional group of people living with HIV (PLWH) that control HIV replication without therapy. Among the mechanisms involved in this ability, natural killer (NK)-cells have recently gained much attention. We performed an in-deep phenotypic analysis of NK-cells to search for surrogate markers associated with the long term spontaneous control of HIV.

Certifying Sets of Quantum Observables with Any Full-Rank State.

We show that some sets of quantum observables are unique up to an isometry and have a contextuality witness that attains the same value for any initial state. We prove that these two properties make it possible to certify any of these sets by looking at the statistics of experiments with sequential measurements and using any initial state of full rank, including thermal and maximally mixed states. We prove that this "certification with any full-rank state" (CFR) is possible for any quantum system of finite dimension d≥3 and is robust and experimentally useful in dimensions 3 and 4.

Brucella-driven host N-glycome remodeling controls infection.

Many powerful methods have been employed to elucidate the global transcriptomic, proteomic, or metabolic responses to pathogen-infected host cells. However, the host glycome responses to bacterial infection remain largely unexplored, and hence, our understanding of the molecular mechanisms by which bacterial pathogens manipulate the host glycome to favor infection remains incomplete. Here, we address this gap by performing a systematic analysis of the host glycome during infection by the bacterial pathogen Brucella spp.

Behavior Changes Depending on Volatile Organic Compounds Emitted by Plants Infected with Viruses with Different Modes of Transmission.

Natural enemies are an additional component that may interact directly with the plant-virus-vector association, affecting viral dispersion. In our study, we conducted olfactometry assays to explore how single and mixed infections with CMV or/and CABYV modify the attractiveness of to aphid-free and aphid-infested melon plants using two melon genotypes. Subsequently, we investigated the influence of CABYV-infected plants infested by on the parasitism rate and emergence of in a dual-choice assay under greenhouse conditions.

Patterns of Sexualized Drug Use among Gay, Bisexual, and Other Men Who Have Sex with Men Living with HIV: Insights from a Comprehensive Study-The U-SEX-2 GESIDA 9416 Study.

Background: Sexualized drug use (SDU) has become a public health concern in recent years. This study aimed to estimate the prevalence of SDU in gay, bisexual, and other men who have sex with men living with HIV (HIV + GBMSM) in Madrid during 2019/2020 and compare it with data from 2016/2017 in order to detect changes in patterns.

Methods: We analyzed the frequency of SDU in a sample of HIV + GBMSM attending HIV clinics, who participated in an anonymous online survey regarding sexual behavior and recreational drug use.

An exchange technique in temporomandibular joint (TMJ) arthroscopy to insert a larger operative cannula to facilitate advanced procedures.

The paper describes a modification of the surgical technique for temporomandibular joint arthroscopy, using an exchange guide to replace the 2.2 mm cannula with one of 2.9 mm to better facilitate osteoplasty of the medial wall.

Sulfur Interaction and Regeneration of CaMnTiMgO Perovskite as Oxygen Carrier during Combustion of Sour Gas in a 500 W Chemical Looping Combustion Unit.

In the present study, the performance of a CaMnTiMgO perovskite used as an oxygen carrier to burn sour gas with different HS concentrations (up to 3000 vppm) in a continuous 500 W chemical looping combustion (CLC) prototype was investigated. After 29 h of sour gas combustion, the combustion efficiency had dropped by 18% in comparison with the reference test without sulfur addition. The characterization of the used particles of the perovskite confirmed that the presence of sulfur in the fuel gas had a poisonous effect through the formation of undesired compounds, such as CaSO.

Vaccination trends in people with HIV infection participanting in the hospital-based survey of patients infected with HIV, 2006-2021.

Objective: To assess the trend in hepatitis A, hepatitis B, pneumococcal, tetanus and seasonal influenza vaccination in people with HIV infection and to analyse associated factors.

Methods: The Hospital Survey of Patients with HIV, an annual cross-sectional study conducted on a fixed day (2006-2021), was used. Inpatients and outpatients were included.

Incidence of Anal Cancer and Related Risk Factors in HIV-Infected Patients Enrolled in the National Prospective Spanish Cohort CoRIS.

Background: People living with HIV have an increased risk of anal cancer.

Objective: To estimate anal cancer incidence and related risk factors in a national cohort of HIV-infected patients.

Design: Prospective multicenter cohort study.

Expert Consensus: Main Risk Factors for Poor Prognosis in COVID-19 and the Implications for Targeted Measures against SARS-CoV-2.

The clinical evolution of patients infected with the Severe Acute Respiratory Coronavirus type 2 (SARS-CoV-2) depends on the complex interplay between viral and host factors. The evolution to less aggressive but better-transmitted viral variants, and the presence of immune memory responses in a growing number of vaccinated and/or virus-exposed individuals, has caused the pandemic to slowly wane in virulence. However, there are still patients with risk factors or comorbidities that put them at risk of poor outcomes in the event of having the coronavirus infectious disease 2019 (COVID-19).

Experimental Test of High-Dimensional Quantum Contextuality Based on Contextuality Concentration.

Contextuality is a distinctive feature of quantum theory and a fundamental resource for quantum computation. However, existing examples of contextuality in high-dimensional systems lack the necessary robustness required in experiments. Here, we address this problem by identifying a family of noncontextuality inequalities whose maximum quantum violation grows with the dimension of the system.

Outcomes after intensive chemotherapy for secondary and myeloid-related changes acute myeloid leukemia patients aged 60 to 75 years old: a retrospective analysis from the PETHEMA registry.

Treatment options for patients with secondary acute myeloid leukemia (sAML) and AML with myeloid-related changes (AMLMRC) aged 60 to 75 years are scarce and unsuitable. A pivotal trial showed that CPX-351 improved complete remission with/without incomplete recovery (CR/CRi) and overall survival (OS) as compared with standard "3+7" regimens. We retrospectively analyze outcomes of 765 patients with sAML and AML-MRC aged 60 to 75 years treated with intensive chemotherapy, reported to the PETHEMA registry before CPX-351 became available.

A Metagenomic and Amplicon Sequencing Combined Approach Reveals the Best Primers to Study Marine Aerobic Anoxygenic Phototrophs.

Studies based on protein-coding genes are essential to describe the diversity within bacterial functional groups. In the case of aerobic anoxygenic phototrophic (AAP) bacteria, the pufM gene has been established as the genetic marker for this particular functional group, although available primers are known to have amplification biases. We review here the existing primers for pufM gene amplification, design new ones, and evaluate their phylogenetic coverage.