Publications by authors named "Adriana Sousa Lages"

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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Despite decades of literature on (de)hydration in healthy individuals, many unanswered questions remain. To outline research and policy priorities, it is fundamental to recognize the literature trends on (de)hydration and identify current research gaps, which herein we aimed to pinpoint. From a representative sample of 180 (de)hydration studies with 4350 individuals, we found that research is mainly limited to small-scale laboratory-based sample sizes, with high variability in demographics (sex, age, and level of competition); to non-ecological (highly simulated and controlled) conditions; and with a focus on recreationally active male adults (e.

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Aims: In type 1 diabetes mellitus (T1DM), functional insulin therapy, based on carbohydrate (CH) counting and individualized insulin-to-carbohydrate ratio, is essential to achieve an adequate metabolic control. However, to date, few tools have been validated to assess patients' knowledge about CH counting, with the AdultCarbQuiz questionnaire having proved to be a reliable method in an American cohort. The aim of this study was to translate, culturally adapt and validate the AdultCarbQuiz questionnaire for the Portuguese population.

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Purpose: The endogenous hypercortisolism that characterizes Cushing's syndrome (CS) is associated with a state of hypercoagulability that significantly increases the risk of thromboembolic disease, especially, venous events. Despite this certainty, there is no consensus on the best thromboprophylaxis strategy (TPS) for these patients. Our aim was to summarize the published data about different thromboprophylaxis strategies, and to review available clinical tools assisting thromboprophylaxis decision making.

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Summary: We report a case of a woman with a diagnosis of breast cancer who unintentionally started gaining weight, feeling tired, and constipated 44 weeks after the initiation of trastuzumab. Hypothyroidism secondary to an autoimmune thyroiditis associated with trastuzumab was diagnosed, the first case described in Portugal and the fourth case described worldwide. Our intention regarding the publication of this case report is to alert the clinicians treating people with trastuzumab that they should ask the patients about symptoms of hypothyroidism and should screen the thyroid function of the patients before, during, and after the initiation of trastuzumab.

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Globally, better health care access and social conditions ensured a significant increase in the life expectancy of the population. There is, however, a clear increase in the incidence of age-related diseases which, besides affecting the social and economic sustainability of countries and regions around the globe, leads to a decrease in the individual's quality of life. There is an urgent need for interventions that can reverse, or at least prevent and delay, the age-associated pathological deterioration.

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Summary: Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D.

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Summary: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to enzyme deficiencies in the adrenal steroidogenesis pathway leading to impaired corticosteroid biosynthesis. Depending on the extension of enzyme defect, there may be variable severities of CAH - classic and non-classic. We report the case of a 37-year-old male patient with a previously unknown diagnosis of classic CAH referred to Endocrinology evaluation due to class III obesity and insulin resistance.

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Introduction: Diagnosis of Cushing's syndrome remains a challenge in clinical endocrinology. Even though late-night salivary cortisol is used as screening tool, individualized cut-off levels for each population must be defined.

Material And Methods: Three groups of subjects were studied: normal subjects, suspected and proven Cushing's syndrome.

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World population has been continuously increasing and progressively aging. Aging is characterized by a complex and intraindividual process associated with nine major cellular and molecular hallmarks, namely, genomic instability, telomere attrition, epigenetic alterations, a loss of proteostasis, deregulated nutrient sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, and altered intercellular communication. This review exposes the positive antiaging impact of physical exercise at the cellular level, highlighting its specific role in attenuating the aging effects of each hallmark.

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Summary: Insulinomas are the most frequent cause of hyperinsulinaemic hypoglycaemia. Although surgical enucleation is the standard treatment, a few other options are available to high-risk patients who are elderly or present with co-morbidities. We present a case report of an 89-year-old female patient who was admitted to the emergency department due to recurrent hypoglycaemia, especially during fasting.

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Although it is a rare entity, primary lymphoma of the adrenal gland should be considered in the differential diagnosis of bilateral nodular adrenal lesions, particularly when there is evidence of associated adrenal insufficiency. We describe the case of an 83-year-old woman admitted to the emergency department due to a month's history of asthenia, weight loss, anorexia and nausea. Abdominopelvic CT showed bilateral nodular lesions of adrenal glands and a stimulation test with tetracosactide was compatible with primary adrenal insufficiency.

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Cutaneous small vessel vasculitis is a severe neutrophilic vascular inflammation mediated by immune complexes that involves the dermal postcapillary venules. Neoplasms represent 2-5% of all causes of secondary cutaneous vasculitis. We present a case of a 52-year-old man who was admitted due to a 10-day history of respiratory symptoms and myalgia.

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