Publications by authors named "Ase Krogh Rasmussen"

Article Synopsis
  • Aggressive pituitary neuroendocrine tumors (PitNETs) often grow despite treatment and can metastasize, making them particularly challenging to manage.
  • This study analyzed tumor samples from 64 patients to investigate genetic markers, finding distinct patterns between aggressive/metastatic tumors and benign ones through genome-wide methylation and chromosomal analyses.
  • The results indicate potential biomarkers that could help in identifying high-risk patients earlier, refining treatment protocols, and improving outcomes for those with aggressive pituitary tumors.
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  • Incidental uptake of tracers in or near the thyroid gland was found in a small percentage of patients undergoing specific PET scans for neuroendocrine neoplasms (NENs), raising questions about its significance.
  • Out of 1808 patients, 42 showed abnormal thyroid uptake, with 5 diagnosed with thyroid malignancies and 13 suggesting possible parathyroid adenomas.
  • The findings indicate a low overall prevalence but notable rates of malignancy and parathyroid conditions, highlighting the need for further studies to establish the best approaches for managing these incidental findings.
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  • A study analyzed the psychiatric health of patients with congenital adrenal hyperplasia (CAH) using extensive data from Danish hospitals over several decades.
  • It found that individuals with the most common form of CAH (21-hydroxylase deficiency) had significantly higher rates of psychiatric disorders and required psychiatric medications compared to the general population.
  • The results emphasize the importance of monitoring and addressing mental health issues in patients with 21-OHD, particularly due to the increased risks for both males and females.
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Objectives: Alemtuzumab, a monoclonal antibody against the cluster of differentiation 52 (CD52) molecule, is used in the treatment of multiple sclerosis (MS). A side effect of the treatment is development of secondary autoimmune thyroid disease. The aim of this study was to evaluate the rate, type and course of thyroid disease in Danish patients with multiple sclerosis (MS) treated with alemtuzumab.

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  • This study investigated thyroid function changes in women with early breast cancer undergoing adjuvant chemotherapy and examined the relationship to weight gain and autoimmune conditions.* -
  • Results showed increased thyroid-stimulating hormone and decreased free-thyroxine levels post-chemotherapy, but no significant changes in body weight or evidence of autoimmune thyroiditis were found.* -
  • The researchers concluded that while thyroid hormone changes occurred, they didn't indicate clinically significant thyroid dysfunction, and further research is necessary to explore long-term effects following treatment.*
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Objective: Acromegaly is associated with increased morbidity and mortality if left untreated. The therapeutic options include surgery, medical treatment, and radiotherapy. Several guidelines and recommendations on treatment algorithms and follow-up exist.

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Objectives: Adrenocortical carcinoma (ACC) is a malignant tumor originating from the adrenal cortex. The aim of the study was to report the incidence of ACC and survival of ACC in Denmark. The secondary objective was to describe the impact of treatment with mitotane on survival.

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Background: The inherited X-linked disorder, Fabry disease, is caused by deficient lysosomal enzyme α-galactosidase A, with progressive accumulation of globotriaosylceramide in multiple organs including the upper and lower airways.

Objectives: To assess pulmonary function at the time of the first pulmonary function test (PFT) performed among the National Danish Fabry cohort and define the prevalence of affected lung function variables.

Materials And Method: A cross-sectional retrospective cohort study of 86 adult patients enrolled in one or both international patient registry databases for Fabry disease, or with at least one PFT.

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Article Synopsis
  • Researchers wanted to see if taking selenium would help improve the quality of life for people with autoimmune thyroiditis.
  • They studied 412 patients over 12 months by giving some of them selenium and others a placebo (fake pill), but found that both groups felt similarly about their quality of life after a year.
  • Even though selenium lowered certain antibody levels in the blood, it didn't change how much medication the patients needed or make them feel any better than those who didn’t take it.
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Purpose: We investigated the association between health-related quality of life (HRQL) and the severity of hypothyroidism at diagnosis in patients referred to a secondary hospital clinic.

Methods: Sixty-seven adult patients referred from primary care were enrolled. All patients had newly diagnosed hypothyroidism due to autoimmune thyroiditis and were treated with levothyroxine (LT4).

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Guidelines for multiple endocrine neoplasia type 1 (MEN1) recommend intensive imaging surveillance without specifying a superior regimen, including the role of somatostatin receptor imaging (SRI) with positron emission tomography (PET). The primary outcomes were to: (1) Assess change in treatment of duodenal-pancreatic neuroendocrine neoplasms (DP-NENs), bronchopulmonary NENs, and thymic tumors attributed to use of SRI PET/computed tomography (CT) and (2) estimate radiation from imaging and risk of cancer death attributed to imaging radiation. This was a retrospective single center study, including all MEN1 patients, who had had at least one SRI PET/CT.

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Studies of primary hyperparathyroidism (PHPT) in multiple endocrine neoplasia type 2A (MEN 2A) shows divergence in frequency, disease definition, reporting of clinical characteristics and traces of selection bias. This is a nationwide population-based retrospective study of PHPT in MEN 2A, suggesting a representative frequency, with complete reporting and a strict PHPT definition. The Danish MEN 2A cohort 1930-2021 was used.

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Background: Graves' disease (GD) is the main cause of hyperthyroidism in women of the fertile age. In pregnant women, the disease should be carefully managed and controlled to prevent maternal and fetal complications. Observational studies provide evidence of the adverse effects of untreated hyperthyroidism in pregnancy and have in more recent years substantiated a risk of teratogenic side effects with the use of antithyroid drugs (ATDs).

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The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001-2020) experience in cascade genetic screening at the Danish National Fabry Disease Center. The Danish Fabry cohort consisted of 26 families, 18 index patients (9 males and 9 females, no available data for 8 index-patients) and 97 family members with a pathogenic GLA variant identified by cascade genetic testing (30 males and 67 females).

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Patient-reported outcomes (PROs) are increasingly used in clinical practice to improve clinical care. Multiple studies show that systematic use of PROs can enhance communication with patients and improve patient satisfaction, symptom management and quality of life. Further, such data can be aggregated to examine health levels for patient groups, improve quality of care, and compare patient outcomes at the institutional, regional or national level.

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Background: There is no consensus regarding markers of optimal treatment or timing between glucocorticoid intake and assessment of hormone levels in the follow-up of female 21-hydroxylase deficient patients.

Objective: To examine visit-to-visit repeatability in levels of adrenal hormones in adult female patients, to identify predictors of repeatability in hormone levels and to examine concordance between levels of different adrenal hormones.

Method: All patients with confirmed 21-hydroxylase deficiency treated with glucocorticoids, were included.

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Introduction: Breast cancer (BC) is a common type of cancer in women. Advances in therapy options have resulted in higher overall survival rates but side effects of cancer treatment are increasingly in the spotlight. The beneficial effects of anti-oestrogen therapy with tamoxifen and letrozole in the prevention of BC recurrence are well documented.

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Objectives: Triclosan is an antibacterial agent suspected to disrupt the endocrine system. The aim of this study was to investigate the influence of triclosan on the human thyroid system through a systematic literature review of human studies.

Methods: Eligibility criteria and method of analysis were registered at Prospero (registration number: CRD42019120984) before a systematic search was conducted in Pubmed and Embase in October 2020.

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Article Synopsis
  • von Hippel Lindau disease (vHL) is a hereditary condition leading to various tumors, including those in the retina, brain, kidneys, and pancreas; effective clinical care is crucial for patients and their families.* -
  • Diagnosis primarily involves clinical criteria, but genetic testing for VHL variants can support the diagnosis; early surveillance starting in childhood is essential for those at risk, focusing on multiple organ systems.* -
  • Treatment strategies primarily emphasize surgery, with new FDA-approved options like belzutifan for certain vHL-related tumors; collaboration among experts and ongoing research are key to improving patient outcomes.*
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Head and neck paragangliomas (HNPGLs) are neuroendocrine tumors. They arise from the parasympathetic ganglia and can be either sporadic or due to hereditary syndromes (up to 40%). Most HNPGLs do not produce significant amounts of catecholamines.

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Patients with pheochromocytoma and paraganglioma (PPGL) are treated with α-adrenoceptor antagonists to improve peroperative hemodynamics. However, preoperative blood pressure targets differ between institutions. We retrospectively compared per- and postoperative hemodynamics in 30 patients with PPGL that were pretreated with phenoxybenzamine aiming at different blood pressure targets at two separate endocrine departments.

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Background: Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide (Gb) causing multi-organ dysfunction. The audiologic involvement in FD has been neglected in previous studies; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life.

Objective: To investigate hearing loss from baseline through 16 years follow-up of the Danish FD cohort and to compare audiometric data to other clinical variables.

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Activating variants in the receptor tyrosine kinase arranged during ransfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.

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Introduction: DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic variants. This is the first study estimating the prevalence of pathogenic variants in young individuals with multinodular goitre.

Methods: Danish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline gene testing.

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