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UnknownRecent HIV infection and annualized HIV incidence rates among sexual and gender minorities in Brazil and Peru (ImPrEP seroincidence study): a cross-sectional, multicenter study.

Background

HIV incidence estimation is critical for monitoring the HIV epidemic dynamics and the effectiveness of public health prevention interventions. We aimed to identify sexual and gender minorities (SGM) with recent HIV infections, factors associated with recent HIV infection, and to e...
S-EPMC10704427 | biostudies-literature
UnknownThe awareness, characterization, and burden of Cognitive Impairment Associated with Schizophrenia (CIAS) in clinical practice: Results from a nationwide survey in Italy.

Introduction

Cognitive Impairment (CIAS) is a core aspect of schizophrenia and one of the main obstacles to clinical and functional recovery in patients. People with CIAS have difficulties with learning and using information in real world. Despite its well-recognized role, it is not yet a di...
S-EPMC11880602 | biostudies-literature
UnknownMusculoskeletal manifestations in children with Behcet's syndrome: data from the AIDA Network Behcet's Syndrome Registry.
This study aims to describe musculoskeletal manifestations (MSM) in children with Behçet's syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet's Syndrome Registry. Out of a total of 141 pat...
S-EPMC10082129 | biostudies-literature
UnknownDefective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.

Background

The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to b...
S-EPMC7649975 | biostudies-literature
UnknownA patient-driven registry on Behcet's disease: the AIDA for patients pilot project.

Introduction

This paper describes the creation and preliminary results of a patient-driven registry for the collection of patient-reported outcomes (PROs) and patient-reported experiences (PREs) in Behçet's disease (BD).

Methods

The project was coordinated by the University of Siena a...
S-EPMC10313381 | biostudies-literature
UnknownITCH E3 ubiquitin ligase downregulation compromises hepatic degradation of branched-chain amino acids.

Objective

Metabolic syndrome, obesity, and steatosis are characterized by a range of dysregulations including defects in ubiquitin ligase tagging proteins for degradation. The identification of novel hepatic genes associated with fatty liver disease and metabolic dysregulation may be relevan...
S-EPMC8886057 | biostudies-literature
UnknownIdentification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction. We performed a genome-wide association study (GWAS) involving 1,873 patients diagnosed with acetylcholine receptor antibody-positive myasthe...
S-EPMC8812681 | biostudies-literature
UnknownUnraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation.
GBA1 variants represent the most common genetic risk factor for Parkinson's disease (PD) and are associated with higher risk of developing cognitive decline and axial motor impairment. While cognitive outcomes following subthalamic deep brain stimulation (STN-DBS) have recently received growing atte...
S-EPMC12534511 | biostudies-literature
UnknownSustained seizure freedom with adjunctive brivaracetam in patients with focal onset seizures.
The maintenance of seizure control over time is a clinical priority in patients with epilepsy. The aim of this study was to assess the sustained seizure frequency reduction with adjunctive brivaracetam (BRV) in real-world practice. Patients with focal epilepsy prescribed add-on BRV were identified. ...
S-EPMC9311068 | biostudies-literature
UnknownClinical and laboratory features associated with macrophage activation syndrome in Still's disease: data from the international AIDA Network Still's Disease Registry.
To characterize clinical and laboratory signs of patients with Still's disease experiencing macrophage activation syndrome (MAS) and identify factors associated with MAS development. Patients with Still's disease classified according to internationally accepted criteria were enrolled in the AutoInfl...
S-EPMC10635948 | biostudies-literature
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