Arch Endocrinol Metab
August 2025
Background: A U-shaped relationship exists between maternal urinary iodine concentration (UIC) and the risk of thyroid dysfunction, adverse pregnancy outcomes, and neurological deficits in offspring. Both iodine deficiency and excess should be avoided during pregnancy. The WHO recommends increased iodine intake during pregnancy due to elevated thyroid hormone production and fetal iodine transfer.
View Article and Find Full Text PDFIntroduction: COVID-19 is associated with an inflammatory pathophysiology and, when associated with chronic diseases, can trigger severe infection and increase death risk. Irisin, a hormone produced by skeletal muscle during physical activity, has demonstrated therapeutic effects against metabolic disorders and exhibits anti-inflammatory and antioxidant effects. There is great interest in investigating irisin's influence on the interaction between SARS-CoV-2 and host cells.
View Article and Find Full Text PDFDuring gestation, insufficient triiodothyronine hormone (T3) can lead to failures in trophoblastic activity or induce defects in fetal epigenetic mechanisms. As a consequence, multiple hormones become unbalanced, which can trigger different negative outcomes in the offspring. This study aims to propose the construction of a 3D trophoblast model, validated with different levels of thyroid hormone treatment.
View Article and Find Full Text PDFAntibiotic resistance in is increasing rapidly and emerging as a major factor in treatment failure. We aimed to identify genetic mutations associated with resistance to clarithromycin (23S rRNA peptidyl transferase), fluoroquinolones (), and metronidazole (), and to explore their mechanisms of action through molecular modeling. detection and the molecular characterization of genes were conducted directly on gastric biopsies by real-time PCR followed by nucleotide sequencing.
View Article and Find Full Text PDFPurpose: Osteoarticular infections (OAI) are serious clinical conditions with Staphylococcus aureus and Coagulase-negative Staphylococcus (CoNS) responsible for up to two-thirds of cases. This work aimed to compare the epidemiological, clinical, and microbiological characteristics of OAI caused by S. aureus versus CoNS to aid in clinical management and infection control strategies.
View Article and Find Full Text PDFArch Endocrinol Metab
May 2025
Objective: Considering that the αvβ3 integrin plays an important role in tumor metastasis, this study investigated the involvement of these pathways in mediating the triiodothyronine (T3) effects on amphiregulin () expression.
Materials And Methods: We treated MCF-7 cells with T3 (10 nM) for 1 hour in the presence or absence of inhibitors for αvβ3 integrin (RGD peptide), MAPK (PD98059), PI3K (LY294002), and protein synthesis (cycloheximide [CHX]). A control group (C) received no T3 or inhibitors.
Objective: To assess whether individual diagnosis of low urinary iodine concentration (UIC) in pregnant women is associated with adverse maternal and neonatal outcomes.
Methods: Studies that compared pregnant women with UIC <150 μg/L and those with UIC 150-249 μg/L were systematically reviewed. MEDLINE, Embase, LILACS and CENTRAL were our source databases.
Aim: This study aimed to evaluate the mean post-test probability (PTP) of the Maturity-onset diabetes of the young (MODY) calculator in a multiethnic cohort of patients previously diagnosed with type 1 diabetes (T1DM).
Materials And Methods: The MODY probability calculator proposed by Shields and colleagues (2012) was applied to 117 patients from a T1DM outpatient clinic at a tertiary hospital in Brazil. Additionally, two exons of the gene were sequenced in eight patients who hadn't received insulin treatment within six months after the diagnosis.
Mitochondrial glutamyl-aminoacyl tRNA synthetase deficiency, stemming from biallelic mutations in the EARS2 gene, was first described in 2012. With <50 cases reported globally, this condition exhibits a distinct phenotype of neonatal or childhood-onset, often referred to as leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). It has also been one of the few reversible mitochondrial disorders described.
View Article and Find Full Text PDFTributyltin (TBT) is an endocrine-disrupting chemical (EDC) related to reproductive dysfunctions. However, few studies have investigated the effects of TBT exposure on mammary gland development. Thus, we assessed whether subacute TBT exposure causes irregularities in mammary gland development.
View Article and Find Full Text PDFInt J Neonatal Screen
March 2024
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study's purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples.
View Article and Find Full Text PDFEndocr Metab Immune Disord Drug Targets
December 2023
Introduction: Single Nucleotide Polymorphisms (SNPs) are used as drug susceptibility biomarkers in metabolic diseases. Alterations in the gene encoding triggers the enzyme flavin monooxygenase 3 (FMO3), involved in the Sulindac metabolization, which also is responsible for the inherited metabolic disorder. Trimethylaminuria (TMAu, OMIM: 602079).
View Article and Find Full Text PDFEndocr Metab Immune Disord Drug Targets
September 2023
Introduction: The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare diseases through nationwide screening. Currently, 27 diseases are diagnosed, amongst which are 24 Inborn Errors of Metabolism (IEM), covering approximately 100% of neonates (1). In 2004, the national laboratory implemented a new screening method, tandem mass spectrometry (MS/MS) to test for amino acids and acylcarnitines.
View Article and Find Full Text PDFIntroduction - SERAC1 deficiency phenotype range from MEGD(H)EL syndrome, the most severe, to juvenile complicated spastic paraplegia, to adult-onset dystonic features (in only one patient). The MEGD(H)EL syndrome is characterized by (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome). Biochemical abnormalities: elevated urinary 3 - metilglutaconic and 3-metilglutaric acids, high lactate and alanine in serum.
View Article and Find Full Text PDFMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life.
View Article and Find Full Text PDFParkinsonism Relat Disord
June 2023
Introduction: The diagnostic approach for adulthood parkinsonism can be challenging when atypical features hamper its classification in one of the two main parkinsonian groups: Parkinson's disease or atypical parkinsonian syndromes (APS). Atypical features are usually associated with non-sporadic neurodegenerative causes.
Methods: Retrospective analysis of patients with a working clinical diagnosis of "atypical" APS and complex parkinsonism.
Biochim Biophys Acta Mol Cell Biol Lipids
April 2023
The anti-obesity thyroid hormone, triiodothyronine (T3), and irisin, an exercise- and/or cold-induced myokine, stimulate thermogenesis and energy consumption while decreasing lipid accumulation. The involvement of ATP signaling in adipocyte cell function and obesity has attracted increasing attention, but the crosstalk between the purinergic signaling cascade and anti-obesity hormones lacks experimental evidence. In this study, we investigated the effects of T3 and irisin in the transcriptomics of membrane-bound purinoceptors, ectonucleotidase enzymes and nucleoside transporters participating in the purinergic signaling in cultured human adipocytes.
View Article and Find Full Text PDFArch Endocrinol Metab
November 2022
Primary hypothyroidism is a common disorder in clinical practice. The management of most cases of hypothyroidism is usually straightforward, but the best approach in some special situations may raise questions among physicians. This position statement was prepared by experts from the Brazilian Society of Endocrinology and Metabolism to guide the management of three special situations, namely, hypothyroidism in the elderly, subclinical hypothyroidism in patients with heart disease, and difficult-to-control hypothyroidism.
View Article and Find Full Text PDFThyroid hormones play a significant role in bone development and maintenance, with triiodothyronine (T3) particularly being an important modulator of osteoblast differentiation, proliferation, and maintenance. However, details of the biological processes (BPs) and molecular pathways affected by T3 in osteoblasts remain unclear. To address this issue, primary cultures of human adipose-derived mesenchymal stem cells were subjected to our previously established osteoinduction protocol, and the resultant osteoblast-like cells were treated with 1 nm or 10 nm T3 for 72 h.
View Article and Find Full Text PDFReprod Toxicol
September 2022
The placenta is a temporary organ that plays critical roles at the maternal-fetal interface. Normal development and function of the placenta is dependent on hormonal signaling pathways that make the placenta a target of endocrine disrupting chemical (EDC) action. Studies showing association between prenatal exposure, hormone disruption, and reproductive damage indicate that EDCs are developmentally toxic and can impact future generations.
View Article and Find Full Text PDFThe SARS-CoV-2 is the causative agent of the COVID-19 pandemic. The data available about COVID-19 during pregnancy have demonstrated placental infection; however, the mechanisms associated with intrauterine transmission of SARS-CoV-2 is still debated. Intriguingly, while canonical SARS-CoV-2 cell entry mediators are expressed at low levels in placental cells, the receptors for viruses that cause congenital infections such as the cytomegalovirus and Zika virus are highly expressed in these cells.
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