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Sökning: L773:2049 3614 > Forskningsöversikt

  • Resultat 1-6 av 6
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1.
  • Beun, Johan G., et al. (författare)
  • Doctors, teach your adrenal insufficiency patients well : provide them with a European Emergency Card!
  • 2022
  • Ingår i: Endocrine Connections. - : Bioscientifica. - 2049-3614. ; 12:1
  • Forskningsöversikt (refereegranskat)abstract
    • Adrenal insufficiency is a life-threatening condition requiring chronic glucocorticoid replacement therapy, as well as stress adaptation to prevent adrenal crises. To increase patients' self-sustainability, education on how to tackle an adrenal crisis is crucial. All patients should carry the European Emergency Card.
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2.
  • Gebauer, J., et al. (författare)
  • The chance of transition : strategies for multidisciplinary collaboration
  • 2022
  • Ingår i: Endocrine Connections. - 2049-3614. ; 11:9
  • Forskningsöversikt (refereegranskat)abstract
    • Many long-term childhood cancer survivors suffer from treatment-related late effects, which may occur in any organ and include a wide spectrum of conditions. Long-term follow-up (LTFU) is recommended to facilitate early diagnosis and to ensure better health outcomes. Due to the heterogeneity of these sequelae, different specialists work together in the diagnosis and treatment of these conditions. Experts from both pediatric and internal medicine are involved in age-appropriate care by providing a transition process. Hence, LTFU of childhood cancer survivors is a prototypic example of multidisciplinary care for patients with complex needs treated in a specialized setting. International collaborations of healthcare professionals and scientists involved in LTFU of childhood cancer survivors, such as the International Guideline Harmonization Group, compile surveillance recommendations that can be clinically adopted all over the world. These global networks of clinicians and researchers make a joint effort to address gaps in knowledge, increase visibility and awareness of cancer survivorship and provide an excellent example of how progress in clinical care and scientific research may be achieved by international and multidisciplinary collaboration.
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3.
  • Jernberg, Emma, et al. (författare)
  • Clinical relevance of androgen receptor alterations in prostate cancer
  • 2017
  • Ingår i: Endocrine Connections. - 2049-3614. ; 6:8, s. R146-R161
  • Forskningsöversikt (refereegranskat)abstract
    • Prostate cancer (PC) remains a leading cause of cancer-related deaths among men worldwide, despite continuously improved treatment strategies. Patients with metastatic disease are treated by androgen deprivation therapy (ADT) that with time results in the development of castration-resistant prostate cancer (CRPC) usually established as metastases within bone tissue. The androgen receptor (AR) transcription factor is the main driver of CRPC development and of acquired resistance to drugs given for treatment of CRPC, while a minority of patients have CRPC that is non-AR driven. Molecular mechanisms behind epithelial AR reactivation in CRPC include AR gene amplification and overexpression, AR mutations, expression of constitutively active AR variants, intra-tumoural and adrenal androgen synthesis and promiscuous AR activation by other factors. This review will summarize AR alterations of clinical relevance for patients with CRPC, with focus on constitutively active AR variants, their possible association with AR amplification and structural rearrangements as well as their ability to predict patient resistance to AR targeting drugs. The review will also discuss AR signalling in the tumour microenvironment and its possible relevance for metastatic growth and therapy.
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4.
  • Keuper, Michaela (författare)
  • On the role of macrophages in the control of adipocyte energy metabolism
  • 2019
  • Ingår i: Endocrine Connections. - 2049-3614. ; 8:6, s. r105-R121
  • Forskningsöversikt (refereegranskat)abstract
    • The crosstalk between macrophages (MF) and adipocytes within white adipose tissue (WAT) influences obesity-associated insulin resistance and other associated metabolic disorders, such as atherosclerosis, hypertension and type 2 diabetes. MF infiltration is increased in WAT during obesity, which is linked to decreased mitochondrial content and activity. The mechanistic interplay between MF and mitochondrial function of adipocytes is under intense investigation, as MF and inflammatory pathways exhibit a pivotal role in the reprogramming of WAT metabolism in physiological responses during cold, fasting and exercise. Thus, the underlying immunometabolic pathways may offer therapeutic targets to correct obesity and metabolic disease. Here, I review the current knowledge on the quantity and the quality of human adipose tissue macrophages (ATM phi) and their impact on the bioenergetics of human adipocytes. The effects of ATM phi and their secreted factors on mitochondrial function of white adipocytes are discussed, including recent research on MF as part of an immune signaling cascade involved in the 'browning' of WAT, which is defined as the conversion from white, energy-storing adipocytes into brown, energy-dissipating adipocytes.
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5.
  • van der Kaay, D. C. M., et al. (författare)
  • Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives
  • 2022
  • Ingår i: Endocrine Connections. - : Bioscientifica. - 2049-3614. ; 11:11
  • Forskningsöversikt (refereegranskat)abstract
    • The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overlap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in this decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turnaround time as the basis for rapid intervention, and economic considerations. Therefore, a frequent question in that context is 'what to test when'. In this review, we aim to review genetic testing strategies and their strengths and limitations and to raise awareness for the future implementation of interdisciplinary genome medicine in diagnoses, treatment, and counselling of growth disturbances.
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6.
  • Yuen, K. C. J., et al. (författare)
  • Diagnosis and testing for growth hormone deficiency across the ages: a global view of the accuracy, caveats, and cut-offs for diagnosis
  • 2023
  • Ingår i: Endocrine Connections. - 2049-3614. ; 12:7
  • Forskningsöversikt (refereegranskat)abstract
    • Growth hormone deficiency (GHD) is a clinical syndrome that can manifest either as isolated or associated with additional pituitary hormone deficiencies. Although diminished height velocity and short stature are useful and important clinical markers to consider testing for GHD in children, the signs and symptoms of GHD are not always so apparent in adults. Quality of life and metabolic health are often impacted in patients with GHD; thus, making an accurate diagnosis is important so that appropriate growth hormone (GH) replacement therapy can be offered to these patients. Screening and testing for GHD require sound clinical judgment that follows after obtaining a complete medical history of patients with a hypothalamic-pituitary disorder and a thorough physical examination with specific features for each period of life, while targeted biochemical testing and imaging are required to confirm the diagnosis. Random measurements of serum GH levels are not recommended to screen for GHD (except in neonates) as endogenous GH secretion is episodic and pulsatile throughout the lifespan. One or more GH stimulation tests may be required, but existing methods of testing might be inaccurate, difficult to perform, and can be imprecise. Furthermore, there are multiple caveats when interpreting test results including individual patient factors, differences in peak GH cut-offs (by age and test), testing time points, and heterogeneity of GH and insulin-like growth factor 1 assays. In this article, we provide a global overview of the accuracy and cut-offs for diagnosis of GHD in children and adults and discuss the caveats in conducting and interpreting these tests.
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  • Resultat 1-6 av 6

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