Publications by authors named "Sofia Martins"

Gianotti-Crosti Syndrome (GCS) is a benign, self-limited dermatologic condition that predominantly affects pediatric patients. It is most commonly associated with viral infections; however, reports implicating Influenza A virus (IAV) as an etiological agent are exceedingly rare. We report the case of a previously healthy two-year-old girl who presented with fever, rhinorrhea, and a symmetric papulovesicular rash involving the extremities, face, and trunk.

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Context: Growth Hormone (GH) deficiency is a rare disorder characterized by severe short stature, which can result from genetic mutations affecting hypothalamic-pituitary development and function.

Objective: To determine the genetic basis of GH deficiency in a Portuguese cohort.

Design, Setting, Patients: Multicentre cohort of 203 GH-deficient patients (78 with Isolated GH Deficiency (IGHD) and 125 with Combined Pituitary Hormone Deficiency (CPHD)) were analysed.

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Costello syndrome is a rare genetic disorder associated with developmental delay, short stature, and pubertal delay. However, a few cases of precocious puberty have been reported, reflecting the complex regulation of the hypothalamic-pituitary-gonadal axis affected by Harvey rat sarcoma viral oncogene homolog (HRAS) gene mutations. We present a case of a boy with Costello syndrome, heterozygous for a mutation in the HRAS gene, first seen in a pediatric endocrinology consultation at the age of nine years and seven months with central precocious puberty and short stature (-0.

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Flavonoids are a key class of polyphenols, i.e., phytochemical compounds present in foods and beverages, which have been described as having health benefits in preventing several chronic diseases.

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Guillain-Barré syndrome (GBS) is a complex and potentially life-threatening disease, representing the most common cause of acute neuromuscular paralysis worldwide. Its diagnosis is primarily based on clinical findings, often complemented by electrophysiological studies and laboratory investigations. Therefore, knowledge of the clinical signs and symptoms is essential to make a prompt diagnosis and allow timely initiation of therapeutic interventions.

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Objectives: Subclinical hypothyroidism (SCH) is defined by elevated thyroid-stimulating hormone (TSH) levels (>5 mUI/L) and normal total and free thyroxine levels (fT4). There is ongoing debate over whether mild SCH should be treated. This study aims to assess the clinical course of normoponderal pediatric patients with SCH.

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Article Synopsis
  • About one-third of Portuguese patients with congenital hypogonadotropic hypogonadism (CHH) have a genetic cause linked to 10 different genes, with a small percentage showing oligogenic inheritance.
  • CHH leads to delayed puberty and infertility due to issues with hormones like GnRH, LH, and FSH.
  • In a study involving 81 patients and 263 controls, genetic screening helped identify pathogenic variants, but many variants classified as uncertain complicate the understanding of the disease causes.
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Technetium-99 m (Tc) remains the cornerstone of nuclear medicine for single photon emission computed tomography (SPECT) due to its widespread availability and chemical and physical features. Its multiple oxidation states allow for the design and production of radiopharmaceuticals with versatile properties, namely in terms of pharmacokinetic profile. Tc(V) is the most common oxidation state, but Tc(I) gained traction after the pioneering work of Alberto and colleagues, which resulted in the introduction of the organometallic core fac-[Tc(CO)(HO)].

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Despite the recognized potential of nanoparticles, only a few formulations have progressed to clinical trials, and an even smaller number have been approved by the regulatory authorities and marketed. Virus-like particles (VLPs) have emerged as promising alternatives to conventional nanoparticles due to their safety, biocompatibility, immunogenicity, structural stability, scalability, and versatility. Furthermore, VLPs can be surface-functionalized with small molecules to improve circulation half-life and target specificity.

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Article Synopsis
  • Gliomas are aggressive brain tumors with low survival rates and resistance to current treatments, necessitating a deeper molecular understanding for targeted therapy development.
  • Public databases like The Cancer Genome Atlas (TCGA) provide essential data, and machine learning techniques are being utilized to analyze this high-dimensional omics data.
  • The study identified distinct gene networks among glioma subtypes, revealing that astrocytoma and oligodendroglioma share similarities, while glioblastoma is molecularly distinct, leading to potential new biomarkers for diagnosis and treatment.
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Introduction: Hereditary Transthyretin Amyloidosis is a rare, progressive and life-threatening systemic disease with predominant peripheral and autonomic nervous system involvement caused by mutation of the transthyretin protein. The most common TTR mutation regarding to ATTRv is a substitution of a Methionine for a Valine at position 30 that predisposes TTR to form aggregates and fibrils.

Methods: S100A8 protein levels were measured in plasma samples from ATTRV30M patients and healthy donors.

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Electric-field-driven ion motion to tailor magnetic properties of materials (magneto-ionics) offers much promise in the pursuit of voltage-controlled magnetism for highly energy-efficient spintronic devices. Electrolyte gating is a relevant means to create intense electric fields at the interface between magneto-ionic materials and electrolytes through the so-called electric double layer (EDL). Here, improved magneto-ionic performance is achieved in electrolyte-gated cobalt oxide thin films with the addition of inorganic salts (potassium iodide, potassium chloride, and calcium tetrafluoroborate) to anhydrous propylene carbonate (PC) electrolyte.

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Virus-like particles (VLPs) are nanoplatforms comprised of one or more viral proteins with the capacity to self-assemble without viral genetic material. VLPs arise as promising nanoparticles (NPs) that can be exploited as vaccines, as drug delivery vehicles or as carriers of imaging agents. Engineered antibody constructs, namely single-chain variable fragments (scFv), have been explored as relevant molecules to direct NPs to their target.

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Magneto-ionics, which deals with the change of magnetic properties through voltage-driven ion migration, is expected to be one of the emerging technologies to develop energy-efficient spintronics. While a precise modulation of magnetism is achieved when voltage is applied, much more uncontrolled is the spontaneous evolution of magneto-ionic systems upon removing the electric stimuli (, post-stimulated behavior). Here, we demonstrate a voltage-controllable N ion accumulation effect at the outer surface of CoN films adjacent to a liquid electrolyte, which allows for the control of magneto-ionic properties both during and after voltage pulse actuation (, stimulated and post-stimulated behavior, respectively).

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New approaches aimed at identifying patient-specific drug targets and addressing unmet clinical needs in the framework of precision medicine are a strong motivation for researchers worldwide. As scientists learn more about proteins that drive known diseases, they are better able to design promising therapeutic approaches to target those proteins. The field of nanotechnology has been extensively explored in the past years, and nanoparticles (NPs) have emerged as promising systems for target-specific delivery of drugs.

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Magneto-ionics is an emerging actuation mechanism to control the magnetic properties of materials voltage-driven ion motion. This effect largely relies on the strength and penetration of the induced electric field into the target material, the amount of generated ion transport pathways, and the ionic mobility inside the magnetic media. Optimizing all these factors in a simple way is a huge challenge, although highly desirable for technological applications.

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Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations.

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Children with speech sound disorders should attend speech and language therapy and should practice the speech exercises regularly to surpass their speech difficulties. Since doing the speech exercises often may be tedious, there is the need to motivate children to practice them. During the COVID-19 pandemic, speech and language pathologists had the need to adapt their procedures to others with less physical contact.

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Objective: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population.

Methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals.

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The COVID-19 pandemic has already infected more than 182 million people and killed more than 4 million all over the globe. In addition to its direct health effects, lockdowns and other draconian public health measures, along with an expected economic crisis of unprecedent magnitude, unpre- dictable social effects are being generated.

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Voltage control of magnetism electric-field-driven ion migration (magneto-ionics) has generated intense interest due to its potential to greatly reduce heat dissipation in a wide range of information technology devices, such as magnetic memories, spintronic systems or artificial neural networks. Among other effects, oxygen ion migration in transition-metal-oxide thin films can lead to the generation or full suppression of controlled amounts of ferromagnetism ('ON-OFF' magnetic transitions) in a non-volatile and fully reversible manner. However, oxygen magneto-ionic rates at room temperature are generally considered too slow for industrial applications.

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Introduction: The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%.

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is the most important causal agent of American tegumentary leishmaniasis (ATL), and 3 to 5% of patients develop mucosal lesions. The mechanisms related to parasite and host immune interactions and the parasite life cycle that lead to dissemination to the mucosa are poorly understood. We aimed to detect DNA in the nasal mucosa of cutaneous leishmaniasis (CL) patients with early mucous dissemination and to relate those findings to specific inflammatory responses.

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Adequate nutritional status is necessary for the proper management of polypharmacy, the prevention of cognitive decline, and the maintenance of functional capacity in activities of daily living. Although several studies validate this fact for the general elderly population, data on institutionalized seniors concerning this relation are scarce. A systematic review was performed according to the PRISMA guidelines, aiming to study the potential correlation between nutritional status and polypharmacy, cognitive decline, and functional performance in institutionalized elders.

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