Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Biomechanical analysis of the snatch technique for elite and varsity weightlifters.

Understanding the importance of movement asymmetries and variations in technique proficiency across different level of weightlifters is crucial. The purpose of this study was to examine differences in joint kinematics, muscle activation, and barbell parameters between elite and varsity weightlifters during the snatch utilizing integrated 3D motion capture and EMG systems. In addition, it analyzes symmetries in joint kinematics and muscle activation in both groups.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.

Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.

This article describes the rationale, aims, and methodology of the Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ). This is the largest international collaboration to date that will develop algorithms to predict trajectories and outcomes of individuals at clinical high risk (CHR) for psychosis and to advance the development and use of novel pharmacological interventions for CHR individuals. We present a description of the participating research networks and the data processing analysis and coordination center, their processes for data harmonization across 43 sites from 13 participating countries (recruitment across North America, Australia, Europe, Asia, and South America), data flow and quality assessment processes, data analyses, and the transfer of data to the National Institute of Mental Health (NIMH) Data Archive (NDA) for use by the research community.

Silencing ScGUX2 reduces xylan glucuronidation and improves biomass saccharification in sugarcane.

There is an increasing need for renewable energy sources to replace part of our fossil fuel-based economy and reduce greenhouse gas emission. Sugarcane bagasse is a prominent feedstock to produce cellulosic bioethanol, but strategies are still needed to improve the cost-effective exploitation of this potential energy source. In model plants, it has been shown that GUX genes are involved in cell wall hemicellulose decoration, adding glucuronic acid substitutions on the xylan backbone.

Combined Cognitive and Psychological Interventions Improve Meaningful Outcomes after Acquired Brain Injury: A Systematic Review and Meta-Analysis.

Interventions addressing cognitive and emotional difficulties after acquired brain injury (ABI) often focus on specific impairments in cognition or mood. These interventions can be effective at addressing their specific target, but do not routinely translate to improved activity and participation outcomes. Approaches that combine cognitive and psychological rehabilitation are increasingly popular; however, to date, there have been no systematic evaluations of their efficacy.

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

Introduction: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI studies have been restricted to case reports or small cohorts. The Brazilian OI Network (BOIN) is a multicenter study collecting clinical OI treatment data from five reference centers in three regions of Brazil.

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Introduction: Pathogenic variants in the gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of -related disorders.

Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS).

Sickle-Cell Disease and Stroke: Quality of Life of Patients in a Chronic Transfusion Regimen from the Caregivers' Perspective.

Strokes affect up to 10% of children with sickle-cell disease (SCD). The most commonly used strategy to prevent a first-time stroke or its recurrence is to perform periodic red blood cell transfusions. This article aims to evaluate the quality of life (QoL) of children and adolescents with SCD undergoing a chronic transfusion regimen (CTR) for stroke prophylaxis, according to their caregivers' perception.

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.

Purpose: Noonan syndrome and related disorders are genetic conditions affecting 1:1000-2000 individuals. Variants causing hyperactivation of the RAS/MAPK pathway lead to phenotypic overlap between syndromes, in addition to an increased risk of pediatric tumors. DNA sequencing methods have been optimized to provide a molecular diagnosis for clinical and genetic heterogeneity conditions.

Physiological and Molecular Responses of cv. Tempranillo Affected by Esca Disease.

Esca is a multi-fungal disease affecting grapevines. The objective of the study was to evaluate the physiological and molecular response of the grapevine cv. Tempranillo to esca disease, carried out in a vineyard under Mediterranean climatic conditions in western Spain.

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Background: Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts' recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries.

Isolation of Promoters and Transcription Factors Involved in the Regulation of Lignin Biosynthesis in Saccharum Species.

Sugarcane bagasse has received attention as a raw material for the production of second-generation ethanol (E2G). However, its use is limited because of the cell wall recalcitrance, mostly conferred by lignin. Recently our knowledge of the genes coding for the enzymes of the lignin biosynthesis pathway has increased; however, still little is known about the transcription factors controlling the expression of these genes in sugarcane.

Visualization of Suberization and Lignification in Sugarcane.

Cell wall biopolymers are major factors responsible for the high recalcitrance of sugarcane biomass. The study of suberization and lignification mechanisms in sugarcane and of the networks that control biosynthesis of these polymers will contribute to the biotechnological improvement of this crop. Here, we describe experiments that allow the visualization of the suberization and lignification mechanism in response to mechanical injury in sugarcane.

Effect of Water Supplementation on Oxidant/Antioxidant Activities and Total Phenol Content in Growing Olives of the Morisca and Manzanilla Varieties.

The objective of this work was to analyse, using a time series analysis, the effect of water regime for two cultivars at three stages of ripeness, during three consecutive years. Fruit and oil yield; O production and NADH oxidation activities; polyphenol oxidase (PPO), superoxide dismutase (SOD) and peroxidase (POX) activities; total phenols, flavonoid and phenylpropanoid glycoside content; and total antioxidant capacity (FRAP) were determined. All these parameters were found to depend on variety, irrigation and year.