Most infants with prenatal osteogenesis imperfecta diagnosis and poor prognosis survive: experience of a quaternary care osteogenesis imperfecta center.

Osteogenesis imperfecta is a genetic condition with improperly or inadequately produced Type I collagen. Manifestations include bowing deformities, fractures, hydrocephalus, respiratory insufficiency, and feeding difficulty. Moderate or severe OI is often diagnosed prenatally based on ultrasound findings and genetic testing may be labeled as lethal.

Update on Treatments for Parkinson's Disease Motor Fluctuations - An International Parkinson and Movement Disorder Society Evidence-Based Medicine Review.

Objective: To update evidence-based medicine recommendations for treating motor fluctuations of Parkinson's disease (PD).

Background: The International Parkinson and Movement Disorder Society (MDS) Evidence Based Medicine in Movement Disorders Committee recommendations for the treatments of PD were first published in 2002 and regularly updated. The current review uses a new methodology, including the Cochrane Risk of Bias tool and a modified version of GRADE (Grading of Recommendations, Assessment, Development, and Evaluations).

Increased activation of the WNT pathway in brain tissue from patients with cortical dysplasia type IIb.

Focal cortical dysplasia (FCD) is a malformation of cortical development characterized by a heterogeneous group of lesions with high epileptogenic activity. Somatic mutations in the mTOR pathway are the primary cause of cortical malformations (MCDs). Activation of the WNT pathway inhibits GSK3, which is a key inhibitor of mTOR; consequently, WNT activation is associated with increased activation of the mTOR pathway.

Physiological response to exercise in the heat: Implications for risk mitigation and adaptation.

Purpose: Recent field studies of physical exertion in challenging environmental conditions have reported dissociation between elevation in body core temperature (T) and successful task completion. This prompted us to further examine physiological mechanisms that might underlie variability in the response to exertional heat exposure. We hypothesized that, in response to exercise in the heat, systematic differences in central and peripheral physiological variables would be apparent between participants who successfully completed the task, versus those who became hyperthermic or symptomatic.

Distinct Disruptive Effects of Methylparaben and Propylparaben on the Prostate and Gonads of Adult Gerbils.

Parabens are chemicals used as preservatives in food, personal care products, and pharmaceuticals. Detectable paraben levels are found in water, air, and soil, making human and animal exposure unavoidable. This study evaluated the effects of methylparaben, propylparaben, and their mixture on the prostate and gonads of male and female gerbils.

Functional composition of the Amazonian tree flora and forests.

Plants cope with the environment by displaying large phenotypic variation. Two spectra of global plant form and function have been identified: a size spectrum from small to tall species with increasing stem tissue density, leaf size, and seed mass; a leaf economics spectrum reflecting slow to fast returns on investments in leaf nutrients and carbon. When species assemble to communities it is assumed that these spectra are filtered by the environment to produce community level functional composition.

The role of prokaryotic mercury methylators and demethylators in Canadian Arctic thermokarst lakes.

Permafrost soils are critical reservoirs for mercury (Hg), with the thawing process leading to the release of this element into the environment, posing significant environmental risks. Of particular concern is the methylated form of mercury, monomethylmercury (MMHg), known for its adverse effects on Human health. Microbial communities play a pivotal role in the formation of MMHg by facilitating Hg methylation and in the demethylation of MMHg, slowing the crossing of toxic threshold concentration in the environment.

Portuguese National Registry of Interventional Cardiology: Official report of percutaneous coronary angiography and intervention from 2014 to 2023.

Introduction And Objectives: To present the report on the trends in percutaneous coronary activity data in Portugal from the last decade (from 2014 to 2023).

Methods: Data were extracted from the Portuguese National Registry of Interventional Cardiology (RNCI) and the numbers in recent years were compared and complemented by information from the 2023 European Society of Cardiology Atlas in Interventional Cardiology (IC) survey, which was administered to the director of every IC department. Linear regression analysis was used to assess trends in activity over time.

Understanding barriers to veterinary involvement in dairy calf health management.

The objectives of this cross-sectional study were to identify barriers to veterinary involvement in calf health and assess knowledge gaps in calf care among American and Canadian bovine veterinarians. A questionnaire was administered to veterinarians, collecting data on demographics, satisfaction with calf health management knowledge, involvement in decision-making, satisfaction with calf health involvement, frequency of calf health record analysis and feedback, topics of interest for further learning, and preferred learning formats. Multivariable logistic regression models were used to assess associations between variables and outcomes.

Investigation of Virulence-Related Markers in Atypical Strains of from Brazil.

is an obligate intracellular protozoan parasite distributed worldwide that infects a wide range of warm-blooded animals, including humans. Recent studies sought to clarify the relationship between the alleles GRA15, ROP5, ROP16, ROP17, and ROP18 and the virulence of isolates in mice. This work aims to analyze the variability of genes that express virulence proteins of 103 strains.

Teaching Communication and Functional Life Skills in Children Diagnosed with Autism Spectrum Disorder.

Unlabelled: Children with autism spectrum disorder (ASD) commonly show difficulty in communication and daily functional skills. The use of scripts may help establish these repertoires. Scripts may be visual (e.

Capnometry-Guided Respiratory Intervention in Veteran PTSD: Impact on Symptom Clusters.

Post-traumatic stress disorder (PTSD) is a challenging psychiatric condition to treat, with suboptimal recovery and difficulty tolerating exposure-based psychotherapies often noted in outcomes research. The aim of this study was to examine patterns of symptom reduction in veterans with PTSD treated with a Capnometry-Guided Respiratory Intervention (CGRI), a 28-day treatment teaching about the normalization of respiratory rate and exhaled carbon dioxide levels via biofeedback. We hypothesized reductions in total PCL-5 scores and all symptom clusters immediately post-treatment but with relative resistance to changes in hyperarousal symptoms, as reported in the outcomes of research using other evidence-based psychotherapies.

Oligometastatic NSCLC: Current Perspectives and Future Challenges.

Oligometastatic non-small cell lung cancer (NSCLC) represents a separate entity with a different biology and prognosis compared to stage IV NSCLC. Challenges range from the very definition of oligometastatic disease to the timing and techniques of local treatments, and their benefit in prolonging patient survival. Most of the international consensus and guidelines agree on the need for shared criteria, such as appropriate stadiation and even tissue biopsy if needed, in order to select patients that could really benefit from personalised strategies.

Association of oxygenation levels after successful mechanical thrombectomy under general anesthesia and 3-month functional outcome in patients with acute ischemic stroke: A prospective observational study.

Background: This study aimed to evaluate whether oxygenation levels (PaO <150 mmHg vs. PaO ≥150 mmHg) in mechanically ventilated patients with acute ischemic stroke (AIS) after successful endovascular treatment (EVT) under general anesthesia are associated with functional outcomes at three months.

Methods: We prospectively collected data over 30 months from patients with proximal occlusion of the anterior circulation treated with successful EVT under general anesthesia.

Exploring Techno-Functional Properties of Brazil Nut (Bertholletia excelsa) Proteins: A Potential Ingredient for the Food Industry.

Brazil nut (Bertholletia excelsa), a high-methionine oilseed, offers a balanced amino acid profile and could serve as a viable protein ingredient in the food industry. This study evaluates the chemical and physicochemical properties of Brazil nut protein concentrate (BNPC), comparing its techno-functional properties to commercial proteins from soy and pea. BNPC exhibited a predominance of β-sheet structures (52%), high hydrophobicity, and excellent oil-holding capacity (~ 3 g oil.

Molecular and biochemical analyses of germination of cowpea (Vigna unguiculata L.) seeds inhibited by n-propyl gallate reveal a key role of alternative oxidase in germination Re-establishment.

n-Propyl gallate (PG) is a phenolic compound that influences enzymatic processes, mostly involving AOX, PTOX, LOX, POD, and PPO. Here, analyses of different PG concentrations (1, 2.5, and 5 mM) during cowpea seed germination at 16, 32, and 48h showed that 2.

PRRSV-1 outbreak in a farrowing farm caused by a vaccine derived strain: a case report.

Background: The benefits of porcine reproductive and respiratory syndrome (PRRS) modified live virus vaccines (MLV) have been largely proven, however, the safety of these vaccines is questioned since vaccine strains can revert to virulence due to random mutations or recombination events. Reversion to virulence has been previously described for PRRSV-2 MLVs and recently for PRRSV-1 MLV after recombination. This case report describes the introduction of a PRRSV-1 strain derived from a MLV associated with an outbreak of reproductive disorder in a 1000-sow farrow-to-wean farm in France.

Chronic musculoskeletal pain and its association with cognitive function and sarcopenia in older adults: Characterization and change over three months.

Pain, cognitive impairment, and sarcopenia share common risk factors and neurophysiological processes, but studies investigating cognition and sarcopenia in older adults with pain are scarce. This study's main aim was to compare cognition and sarcopenia between older adults with and without chronic pain. A secondary aim was to investigate predictors of cognition and sarcopenia at baseline and 3 months while adjusting for confounders.

Impact of dietary Babassu oil and sunflower oil blend on feed intake, carcass traits, and fatty acid composition in meat of lambs.

This study aimed to evaluate the effects of the blend of babassu oil (BO) and sunflower oil (SO) in different proportions on performance, quality, and fatty acid (FA) composition in lamb meat. Feeding BO reduced (P = 0.019) dry matter intake, energy intake (P = 0.

3D Printing of Virucidal Polymer Nanocomposites (PLA/Copper Nanoparticles).

Metallic nanoparticles with virucidal properties dispersed in a polymeric matrix have gained prominence in the scientific community as a rapid and effective alternative that employs the additive manufacturing (AM) or 3D printing method. This study aims to produce filaments for 3D printing using polymer nanocomposites based on polylactic acid (PLA) and copper nanoparticles (CuNPs) in different proportions. The virucidal activity of various proportions of nanoparticles in PLA was investigated.

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

This study aims to characterize the clinical spectrum and genetic landscape of IRDs in Portugal. Multicentre, cross-sectional, cohort study comprising consecutive patients with a clinical diagnosis of IRD and available genetic results, enroled in the IRD-PT registry (retina.com.

HiDaFernPT: Historical data of spore availability for 121 fern and lycopod taxa in Portugal (1926-2013).

Species phenology is being altered by ongoing climate changes with yet underappreciated consequences for ecological processes and ecosystem stability. Contrary to what happens with some key life events of flowering plants, comparatively little information exists about fern and lycophyte phenology and how it is affected by the current climatic changes. In part, this stems from the lack of long-term datasets.

Health professionals' perceptions, barriers and knowledge towards oral health care of dependent people in nursing homes: a systematic review.

Introduction: This review aimed to evaluate the perceived barriers, knowledge, and training, of different health care professionals in relation to the oral health of dependent people in nursing homes and access, as well, how this data was evaluated.

Methods: Three electronic databases-PubMed/MEDLINE, Web of Science, and LILACS-were searched independently by two researchers for relevant studies published up to December 2023. Articles were selected according to the established inclusion and exclusion criteria, and a total of 35 studies were included.

Effect of eucalyptus nanofibril as reinforcement in biodegradable thermoplastic films based on rice starch (Oryza sativa): Evaluation as primary packaging for crackers.

This study investigated the incorporation of eucalyptus nanocellulose (CNF) into rice starch-based thermoplastic (TPS) films, evaluating the effects of four CNF concentrations (0 %, 2 %, 4 %, and 6 %, w/w) on the physicochemical properties of the films. The analyses included scanning electron microscopy (SEM), Fourier-transform infrared spectroscopy (FTIR), solubility, mechanical properties, optical properties, biodegradability, and application for cookie preservation. Atomic force microscopy (AFM) confirmed good CNF dispersion at 4 %, while higher concentrations caused agglomeration.