Publications by authors named "Andreia Martins"

Kikuchi-Fujimoto disease (KFD) is a rare and benign condition mainly characterized by fever and lymphadenopathies. Although many studies have been carried out over time, its aetiology remains unclear, with infectious and autoimmune processes being hypothesized as the main causes. We report three cases of Kikuchi-Fujimoto disease.

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The golden lion tamarin (GLT) is an Endangered primate endemic to Brazil's lowland Atlantic Forest. After centuries of deforestation and capture for the pet trade, only a few hundred individuals survived, all in isolated forest fragments 85 km from Rio de Janeiro city. Intensive conservation actions, including reintroduction of zoo-born tamarins, increased numbers to about 3700 in 2014.

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  • Childhood-onset osteoporosis is linked to over 20 different genes, including PLS3, which is associated with skeletal fragility in males.
  • Five new cases from Europe showed that affected hemizygous males experienced fractures at young ages, and the identified PLS3 gene variants often came from their mothers who were unaffected.
  • Early treatment with bisphosphonates resulted in improved bone density and shape, emphasizing the need for early diagnosis and intervention in managing this condition.
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Background: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterised by the progressive loss of motor neurons in the brain and spinal cord. The fact that ALS's disease course is highly heterogeneous, and its determinants not fully known, combined with ALS's relatively low prevalence, renders the successful application of artificial intelligence (AI) techniques particularly arduous.

Objective: This systematic review aims at identifying areas of agreement and unanswered questions regarding two notable applications of AI in ALS, namely the automatic, data-driven stratification of patients according to their phenotype, and the prediction of ALS progression.

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The increased consumption of a variety of herbs/supplements has been raising serious health concerns. Owing to an inadequate understanding of herb/supplement-drug interactions, the simultaneous consumption of these products may result in deleterious effects and, in extreme cases, even fatal outcomes. This systematic review is aimed at understanding the knowledge and beliefs about the consumption of herbs/supplements and herb/drug-supplement interactions (HDIs).

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Agility is a fitness-skill-related component that should be a part of the standard physiological testing for soccer players and one of the key performance indicators in soccer. The present study aimed to assess the reliability of the CRAST as a research tool in the study of soccer skills. Twenty-one university soccer players (chronological age: 19.

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Pathogenic RIPK1 variants have been described as the cause of two different inborn errors of immunity. Biallelic loss-of-function variants cause the recessively inherited RIPK1 deficiency, while monoallelic variants impairing the caspase-8-mediated RIPK1 cleavage provoke a novel autoinflammatory disease (AID) called cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. The aim of this study was to characterize the pathogenicity of two novel RIPK1 variants located at the cleavage site of caspase-8 detected in patients with dominantly-inherited, early-onset undefined AID.

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Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.

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Amyotrophic Lateral Sclerosis is a devastating neurodegenerative disease causing rapid degeneration of motor neurons and usually leading to death by respiratory failure. Since there is no cure, treatment's goal is to improve symptoms and prolong survival. Non-invasive Ventilation (NIV) is an effective treatment, leading to extended life expectancy and improved quality of life.

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Aims: The aim of the presente study was to examine the effects of oral gallic acid (GA) administration on the brown adipose tissue of obese mice fed with high-fat diet. New mechanisms and interactions pathways in thermogenesis were accessed through bioinformatics analyses.

Main Methods: Swiss male mice were divided into four groups and fed during 60 days with: standard diet, standard diet combined with gallic acid, high-fat diet and high-fat diet combined with gallic acid.

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The golden lion tamarin is an endangered primate endemic to Brazil's Atlantic Forest. Centuries of deforestation reduced numbers to a few hundred individuals in isolated forest fragments 80 km from Rio de Janeiro city. Intensive conservation action including reintroduction of zoo-born tamarins into forest fragments 1984-2000, increased numbers to about 3,700 in 2014.

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Introduction: Children with DiGeorge syndrome/chromosome 22q11.2 deletion syndrome might have a variable degree of immunodeficiency, which may limit the use of live vaccines. The aim of this study was to review the adverse effects of live vaccines and possible relation with immune status in patients with DiGeorge Syndrome/partial 22q11.

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Efforts to reverse the decline of endangered golden lion tamarin monkeys have been relatively successful because the Brazilian organization dedicated to the species' conservation (Associação Mico-Leão-Dourado, AMLD) relies on science-based computer modeling to determine the number of tamarins necessary to achieve demographic and genetic goals, and a process of strategic planning to achieve those goals. Accurate estimates of the numbers of tamarins in forest fragments are essential to evaluate progress in achieving goals and adapt strategies as necessary. In this report we present the results of a new method to survey the number of tamarins in the wild, a modification of the point transect with lures procedure.

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  • The study investigates the social factors influencing the dispersal of golden lion tamarins, particularly focusing on aggressive behavior and social interactions.
  • The research, spanning 7 years and involving 68 tamarin groups, found that male tamarins have higher dispersal success and tend to join established groups, while females often create new groups.
  • Interestingly, conspecific attraction, rather than aggression, was identified as the primary driver for natal emigration, which has important implications for understanding the species' cooperative breeding system and conservation efforts.
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Aim: To determine the prevalence of arthritis in Kawasaki disease (KD) and the clinical characteristics of children with KD and arthritis.

Methods: This was a single-centre, 15-year, retrospective study of children admitted with KD. Clinical features (including coronary involvement), laboratory results and treatment response were evaluated.

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  • CCR5-coreceptor antagonists are important for treating HIV-2, but it's crucial to determine whether the virus can only use the CCR5 coreceptor to avoid treatment failure.
  • A new online tool, geno2pheno[coreceptor-hiv2], was created to predict HIV-2 coreceptor usage based on the V3 loop of the virus's glycoprotein, achieving high accuracy in distinguishing coreceptor types.
  • This tool not only matched existing methods in predictive performance but also identified new markers for CXCR4 usage, enhancing the understanding of HIV-2 coreceptor dynamics.
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Unlabelled: Human immunodeficiency virus type 2 (HIV-2) has already spread to different regions worldwide, and currently about 1 to 2 million people have been infected, calling for new antiviral agents that are effective on both HIV-1 and HIV-2 isolates. T20 (enfuvirtide), a 36-mer peptide derived from the C-terminal heptad repeat region (CHR) of gp41, is the only clinically approved HIV-1 fusion inhibitor, but it easily induces drug resistance and is not active on HIV-2. In this study, we first demonstrated that the M-T hook structure was also vital to enhancing the binding stability and inhibitory activity of diverse CHR-based peptide inhibitors.

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  • Neonatal teeth is an uncommon condition where teeth emerge in the first month of life, typically in the lower front of the mouth, with unknown causes.
  • This condition can lead to problems with breastfeeding and risks like aspiration if the teeth are swallowed.
  • A case involving a premature infant is discussed, where swelling and redness around the gums were observed, leading to the discovery and subsequent extraction of two loose teeth ten days later, highlighting the rarity of this issue and the importance of a comprehensive treatment approach.
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  • Sleep disorders in children are often overlooked, with factors like socio-cultural environment and medical conditions impacting sleep quality and leading to physical and social issues.
  • A study of pediatric patients at a Primary Health Care Center in Lisbon found that 59.4% of children scored above the threshold for sleep disorders, with children from single-parent families experiencing higher prevalence, especially in cases of parasomnia.
  • Children diagnosed with sleep-disordered breathing reported increased daytime sleepiness, highlighting the importance of family structure on sleep habits and its potential effects on daily functioning.
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  • Hypercalcemia is a serious and rare metabolic disorder in children that can be life-threatening and has various potential causes, including cancer.
  • A case is reported of a 3-year-old boy who exhibited severe symptoms and was found to have extremely high calcium levels and anemia, leading to his admission to intensive care.
  • After treatment involving hydration, specialized filtration, and the use of zoledronate, the child was diagnosed with acute lymphoblastic leukemia, highlighting that hypercalcemia may indicate underlying malignancy in pediatric patients.
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Here, we present a review of the dataset resulting from the 11-years follow-up of Trypanosoma cruzi infection in free-ranging populations of Leontopithecus rosalia (golden lion tamarin) and Leontopithecus chrysomelas (golden-headed lion tamarin) from distinct forest fragments in Atlantic Coastal Rainforest. Additionally, we present new data regarding T. cruzi infection of small mammals (rodents and marsupials) that live in the same areas as golden lion tamarins and characterisation at discrete typing unit (DTU) level of 77 of these isolates.

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The advent of new therapeutic approaches targeting env and the search for efficient anti-HIV-1 vaccines make it necessary to identify the number of recombinant forms using genomic regions that were previously not frequently sequenced. In this study, we have subtyped paired pol and env sequences from HIV-1 strains infecting 152 patients being clinically followed in Portugal. The percentage of strains in which we found discordant subtypes in pol and env was 25.

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