Publications by authors named "Jorge A"

This study investigated the fatty acids (FA) profile of 54 actinomycete strains isolated from marine sediments collected off the Portugal continental coast, specifically from the Estremadura Spur pockmarks field, by GC/MS. Fatty acid methyl esters (FAMEs) were prepared from the ethyl acetate lipidic extracts of these strains and analyzed by gas chromatography-mass spectrometry (GC/MS), with FA identification performed using the NIST library. The identified FAs varied from C12:0 to C20:0, where 32 distinct FAs were identified, including 7 branched-chain fatty acids (BCFAs), 9 odd-chain fatty acids (OCFAs), 8 monounsaturated fatty acids (MUFAs), 6 saturated fatty acids (SFAs), 1 polyunsaturated fatty acid (PUFA), and 1 cyclic chain fatty acid (CCFA).

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BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

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In the context of the near-global eradication of wild poliovirus, the significance of non-polio enteroviruses (NPEVs) in causing acute flaccid paralysis (AFP) and their impact on public health has gained increased attention. This research, conducted from 2001 to 2021, examined stool samples from 1597 children under 15 years in São Paulo, Brazil, through the AFP/Poliomyelitis Surveillance Program, detecting NPEVs in 6.9% of cases.

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Aims: Serum creatinine and albuminuria are the core of most CKD prediction and progression risk models. Several biomarkers have been introduced to improve these results such as beta-2-microglobulin (B2M) and cystatin C (CysC). Nevertheless, few clinical comparisons of these biomarkers are available.

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Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings.

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This case report discusses a unique case of renal eventration in a cat resulting from a lumbar hernia possibly of traumatic origin. A two-year-old indoor/outdoor male neutered domestic shorthair was evaluated for a rapidly growing mass noted in the right lumbar region. Initial physical examination revealed a firm, circular and slightly mobile mass in the lumbar region, along with pain and tenderness on palpation.

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Background: Proper analysis and interpretation of health care data can significantly improve patient outcomes by enhancing services and revealing the impacts of new technologies and treatments. Understanding the substantial impact of temporal shifts in these data is crucial. For example, COVID-19 vaccination initially lowered the mean age of at-risk patients and later changed the characteristics of those who died.

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Macroalgae are known as abundant sources of phytochemicals, which offer a plethora of beneficial biological properties. Besides being the most notable classes of compounds found in macroalgae, phlorotannins, bromophenols, and terpenoids comprise some of the most relevant for their biological properties. Phlorotannins, mainly prevalent in brown algae and structurally characterized as complex polyphenolic compounds derived from phloroglucinol units, possess robust antioxidant, anti-inflammatory, antitumor, and cytotoxic activities, modulated by factors such as the degree of polymerization and environmental conditions.

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Background: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is a heterogeneous entity with either a monophasic or relapsing course. Well-established predictors of relapsing disease are lacking.

Objective: Identifying predictors of relapsing MOGAD, particularly at disease onset.

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Article Synopsis
  • Becker muscular dystrophy (BMD) is a less severe X-linked genetic disorder caused by mutations in the DMD gene, resulting in truncated dystrophin and affecting muscle function, particularly in the heart.
  • Researchers created a rat model for BMD by deleting specific exons of the Dmd gene and evaluated the rats for functional and histopathological changes during their first year, finding moderate muscle damage and progressive heart disease.
  • RNA sequencing of cardiac tissue revealed shared abnormalities in BMD and Duchenne muscular dystrophy (DMD) rats, pointing to issues with key proteins at cell junctions, which could help understand dystrophin's role in muscle and heart function, and pave the way for new treatments.
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Aqueous two-phase systems (ATPS), also known as Aqueous Biphasic Systems (ABS), have been extensively studied as platforms for the separation and purification of biomolecules and other valuable compounds. These liquid-liquid extraction (LLE) systems have been a tool for biotechnology since its origin (Albertsson, 1950's), recently expanding to exciting fields such as health, biomedicine and material sciences. Due to their biocompatibility, amenability, flexibility, and versatility, ATPS have been applied across various research areas, addressing many challenges associated with conventional methodologies.

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Article Synopsis
  • The study investigated the prevalence of myopia (nearsightedness) in individuals aged 5 to 25 over a decade (2008-2018) in both a private clinic and a public service.
  • A total of 6,332 individuals were evaluated, revealing a random pattern in myopia rates, with no significant increase in prevalence over the years.
  • The findings indicated that the average rates of myopia were similar between the private and public services, and that prevalence varied by age group.
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Background: Research on the possible influence of lateralised basal ganglia dysfunction on speech in Parkinson's disease is scarce. This study aimed to compare speech in de-novo, drug-naive patients with Parkinson's disease (PD) with asymmetric nigral dopaminergic dysfunction, predominantly in either the right or left hemisphere.

Methods: Acoustic analyses of reading passages were performed.

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Context: COVID-19 induces complex distress across physical, psychological, and social realms and palliative care (PC) has the potential to mitigate this suffering significantly.

Objectives: To describe the clinical characteristics and outcomes of COVID-19 patients with an indication of PC, compared to patients who had no indication, in different pandemic waves.

Methods: This retrospective multicenter observational cohort included patients from 40 hospitals, admitted from March 2020 to August 2022.

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Background: Chemotherapy with doxorubicin may lead to left ventricular dysfunction. There is a controversial recommendation that biomarkers can predict ventricular dysfunction, which is one of the most feared manifestations of anthracycline cardiotoxicity.

Objective: The aim of this study was to evaluate the behavior of biomarkers such as Troponin I, type B natriuretic peptide, creatine phosphokinase fraction MB, and myoglobin in predicting cardiotoxicity in a cohort of women with breast cancer undergoing chemotherapy with anthracycline.

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Objective: We sought to determine the impact of hydroxychloroquine (HCQ) dose on the risk of hospitalizations for systemic lupus erythematosus (SLE).

Methods: We conducted a case-crossover study within an academic health system, including patients with SLE who used HCQ and had ≥1 hospitalization for active SLE between January 2011 and December 2021. Case periods ended in hospitalization for SLE, whereas control periods did not.

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Introduction: Mutations in the thyroid hormone receptor alpha (THRA) gene are a rare cause of thyroid hormone resistance, which leads to a pleomorphic phenotypic spectrum. Hormonal profiles are variable and subtle, making laboratory diagnoses challenging. Genetic evaluation can be a helpful tool in diagnosing these cases.

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Importance: The major toxic effect of hydroxychloroquine is retinopathy. Thus, current guidelines recommend limiting the dose and screening annually for retinopathy among all long-term users, but individual patient factors may be associated with retinopathy risk.

Objective: To identify risk factors beyond hydroxychloroquine dose and duration of use for hydroxychloroquine retinopathy.

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Background: During sprinting, the biceps femoris long head predominantly gets injured, while hamstring strengthening exercises predominantly activate the semitendinosus more effectively. Understanding how joint dominance influences hamstring activity may offer clarity on appropriate exercise selection in strengthening programs.

Purpose: This study compared three hip-dominant hamstring exercises: the rocker, perpetuum mobile fast and slow (PMfast and PMslow) and the Nordic Hamstring exercise (NHE) on their potential to simulate sprint-like activity and kinematics.

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Context: Genetic analysis of sporadic medullary thyroid carcinoma (MTC) has revealed somatic variants in , , and occasionally other genes. However, around 20% of patients with sporadic MTC lack a known genetic driver.

Objective: To uncover potential new somatic or germline drivers, we analyze a distinct cohort of patients with sporadic, very early-onset, and aggressive MTC.

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Consumers are increasingly interested in food products with high nutritional value and health benefits. For instance, fish consumption is linked with diverse positive health benefits and the prevention of certain widespread disorders, such as obesity, metabolic syndrome, or cardiovascular diseases. These benefits have been attributed to its excellent nutritional value (large amounts of high-quality fatty acids, proteins, vitamins, and minerals) and bioactive compounds, while being relatively low-caloric.

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