Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.

Mitochondria are critical modulators of antiviral tolerance through the release of mitochondrial RNA and DNA (mtDNA and mtRNA) fragments into the cytoplasm after infection, activating virus sensors and type-I interferon (IFN-I) response. The relevance of these mechanisms for mitochondrial diseases remains understudied. Here we investigated mitochondrial recessive ataxia syndrome (MIRAS), which is caused by a common European founder mutation in DNA polymerase gamma (POLG1).

CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy.

Hyperornithinemia with gyrate atrophy of the choroid and retina (HOGA) is a severe recessive inherited disease, causing muscular degeneration and retinochoroidal atrophy that progresses to blindness. HOGA arises from mutations in the ornithine aminotransferase gene, and nearly one-third of the known patients worldwide are homozygous for the Finnish founder mutation OAT c.1205 T > C p.

The Type of Information People with Schizophrenia Use in Ambiguous Social Situations.

Background And Objectives: Rather than focusing on the extensively studied social perception and recognition impairments in people with schizophrenia, this study focuses on the type of social information considered relevant by people with schizophrenia, and how they use it to arrive at conclusions about social situations.

Methods: Participants included 50 outpatients with schizophrenia from the Hospital del Salvador at Valparaíso, Chile, and 50 healthy comparators matched by age and gender. Subjects completed the Social Information Preference Test (SIPT), which presents scenes depicting ambiguous social situations with faces, thoughts, and facts about the scene hidden from view.

Simultaneous high-efficiency base editing and reprogramming of patient fibroblasts.

Human induced pluripotent stem cells (hiPSCs) allow in vitro study of genetic diseases and hold potential for personalized stem cell therapy. Gene editing, precisely modifying specifically targeted loci, represents a valuable tool for different hiPSC applications. This is especially useful in monogenic diseases to dissect the function of unknown mutations or to create genetically corrected, patient-derived hiPSCs.

People with schizophrenia use less information to interpret ambiguous social situations.

Background And Objectives: The tendency of people with schizophrenia to gather insufficient information before making decisions or jumping to conclusions has been repeatedly reported. However, criticism has also been expressed regarding the ecological validity of this finding. Here we present the results obtained by a group of people with schizophrenia and a control group in a non-probabilistic task that requires obtaining items of information before interpreting an ambiguous social situation.

Relationship Between Gender and Performance on Emotion Perception Tasks in a Latino Population.

Unlabelled: Basic emotions are universally recognized, although differences across cultures and between genders have been described. We report results in two emotion recognition tasks, in a sample of healthy adults from Chile.

Methods: 192 volunteers (mean 3158 years, s.

The Type of Information People with Schizophrenia Use in Ambiguous Social Situations.

Background And Objectives: Rather than focusing on the extensively studied social perception and recognition impairments in people with schizophrenia, this study focuses on the type of social information considered relevant by people with schizophrenia, and how they use it to arrive at conclusions about social situations.

Methods: Participants included 50 outpatients with schizophrenia from the Hospital del Salvador at Valparaíso, Chile, and 50 healthy comparators matched by age and gender. Subjects completed the Social Information Preference Test (SIPT), which presents scenes depicting ambiguous social situations with faces, thoughts, and facts about the scene hidden from view.

Curative gene therapies for rare diseases.

Diseases caused by alterations in the DNA can be overcome by providing the cells or tissues with a functional copy of the mutated gene. The most common form of gene therapy implies adding an extra genetic unit into the cell. However, new genome engineering techniques also allow the modification or correction of the existing allele, providing new possibilities, especially for dominant diseases.

Lack of Association between the Gene Asp358Ala Variant (rs2228145), IL-6 Plasma Levels, and Treatment Resistance in Chilean Schizophrenic Patients Treated with Clozapine.

Alterations in neuroinflammatory processes have been suggested to contribute to the development of Schizophrenia (SZ); one component of the inflammatory system that has been linked to this disorder is interleukin-6 (IL-6). The minor allele of rs2228145, a functional polymorphism in the IL-6 receptor gene, has been associated to elevated IL-6 plasma levels and increased inflammatory activity, making it an interesting candidate to study as a possible factor underlying clinical heterogeneity in SZ. We studied a sample of 100 patients undergoing treatment with clozapine.

Reliability of ultrasonography to detect inflammatory lesions and structural damage in juvenile idiopathic arthritis.

Background: Musculoskeletal Ultrasonography (MSUS) is an important tool for the clinical assessment in Juvenile Idiopathic Arthritis (JIA). The objective of this study was to evaluate the reliability of MSUS to detect elementary lesions: synovitis, tenosynovitis, cartilage damage and bone erosions in the wrist and metacarpal (MCP) joints of patients with JIA.

Methods: Thirty children in various subgroups of JIA according to ILAR criteria, were included in this cross-sectional study.

Urinary MCP-1/creatinine in Henoch-Schönlein purpura and its relationship with nephritis.

Background: Monocyte chemotactic protein-1 (MCP-1) plays a direct role in the infiltration of macrophages and monocytes during the early stages of Henoch-Schönlein purpura (HSP) nephritis. The aim of this study was to compare the urinary MCP-1/creatinine levels in children with and without HSP nephritis and determine if they are associated with the severity of renal lesions.

Methods: We included 77 patients with HSP and 25 healthy control children.

Chronic inflammatory demyelinating polyradiculoneuropathy in a boy with systemic lupus erythematosus.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired, autoimmune peripheral neuropathy. Systemic lupus erythematosus (SLE) is a multisystemic, autoimmune disease that can affect the central nervous system in about 40% of patients, with prevalence and incidence unknown in the pediatric population due to lack of multicenter studies. We report the case of a 13-year-old Mexican boy, diagnosed with CIDP at the onset of SLE, beginning with progressive muscle weakness of lower and upper limbs, without affection of the central nervous system.