Pheochromocytoma and paragangliomas (PPGL) are rare neuroendocrine tumors. In some patients they exhibit malignant behavior characterized by the presence of metastases, limiting treatment options and survival rates. Therapeutic options are limited to surgery, localized radiotherapy, and a few systemic therapies. However, in several recent studies, non-coding RNA molecules are gaining increasing attention as markers of malignancy for PPGL. The understanding of PPGL development molecular mechanisms has improved in the last years, with some of the epigenetic regulatory mechanisms such as DNA and histones methylation, being better understood than RNA-based mechanisms. Metabolome deregulation in PPGL, with increased synthesis of molecules that facilitated tumor growth, results from the activation of hypoxia signaling pathways, affecting tumorigenesis. In addition, the assessment of these metabolites can be useful for the management of these tumors. This review summarizes recent discoveries linking metabolome and non-coding RNA to PPGL and their relevance for diagnosis and therapeutics.
Objectives Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated. Methods This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison’s disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS. Results We diagnosed 35 children with PAS, most fulfilled criteria for PAS type 3 (65.7%), and AITD was the AID more frequently detected (74.3%). PAS type 1 was not diagnosed in our sample. Patients with PAS manifested DM1 and AITD at a younger age than children with monoglandular pathology (7.7 vs. 9.3 years, p=0.04 and 7.7 vs. 13.1 years, p<0.01). Conclusions This is the first study that analyzes the prevalence of different types of PAS in a pediatric population followed by endocrine pathologies, namely DM1, AD, and AITD. As PAS manifestations are often preceded by a long latency period characterized by the presence of autoantibodies, we reinforce the need to value these markers for timely diagnosis and to screen PAS in patients with AD throughout their lives.
Diabetes mellitus (DM) has emerged as a major risk factor for COVID-19 severity and SARS-CoV-2 infection can worsen glycemic control and may precipitate new-onset diabetes. At-admission hyperglycemia (AH) is a known predictor for worse outcomes in many diseases and seems to have a similar effect in COVID-19 patients. In this study, we aimed to assess the impact of AH regardless of pre-existing diabetes mellitus and new-onset diabetes diagnosis in the clinical severity of COVID-19 inpatients in the first months of the pandemic. A retrospective monocentric study on 374 COVID-19 inpatients (209 males) was developed to assess associations between AH (blood glucose levels in the Emergency Department or the first 24 h of hospitalization greater than 140 mg/dL) and severity outcomes (disease severity, respiratory support, admission to Intensive Care Unit (ICU) and mortality) in patients with and without diabetes. Considering diabetic patients with AH (N = 68;18.1%) there was a correlation with COVID-19 severity (p = 0.03), invasive mechanical ventilation (p = 0.008), and ICU admission (p = 0.026). No correlation was present with any severity outcomes in diabetic patients without AH (N = 33; 8.8%). All of the New-onset Diabetes patients (N = 15; 4%) had AH, and 12 had severe COVID-19; additionally, five patients were admitted to the ICU and three patients died. However, severity outcomes did not reach statistical correlation significance in this group. In nondiabetic patients with AH (N = 51; 13.6%), there was a statistically significant association with the need for oxygen therapy (p = 0.001), invasive mechanical ventilation (p = 0.01), and ICU admission (p = 0.03). Our results support data regarding the impact of AH on severity outcomes. It also suggests an effect of AH on the prognosis of COVID-19 inpatients, regardless of the presence of pre-existing diabetes or new-onset diabetes. We reinforce the importance to assess at admission glycemia in all patients admitted with COVID-19.
Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43‐year‐old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer.
Introduction Amiodarone-induced thyrotoxicosis (AIT) can sometimes lead to life-threatening complications, especially in patients with congenital heart disease (CHD). We report the case of a patient with refractory AIT that was successfully treated with thyroid arterial embolization (TAE). Case report A 34-year-old man with complex cyanotic CHD complicated with heart failure (HF), pulmonary hypertension, and supraventricular tachyarrhythmias, was treated with amiodarone since 2013. In March 2019, he presented worsening of his cardiac condition and symptoms of thyrotoxicosis that were confirmed by laboratory assessment. Thiamazole 30 mg/day and prednisolone 40 mg/day were prescribed, but the patient experienced worsening of his cardiac condition with several hospital admissions in the next 5 months, albeit increasing dosages of thionamide and glucocorticoid and introduction of cholestyramine and lithium. Thyroidectomy was excluded due to the severity of thyrotoxicosis, and plasmapheresis was contraindicated due to the cardiac condition. TAE of the four thyroid arteries was then performed with no immediate complications. Progressive clinical and analytical improvement ensued with gradual reduction and suspension of medication with the patient returning to euthyroid state and his usual cardiac condition previous to the AIT. Conclusion For patients with medication refractoriness and whose condition precludes thyroidectomy, embolization of thyroid arteries may be an effective and safe option. Established facts Amiodarone-induced thyrotoxicosis (AIT) can be refractory to a combination therapy of thionamides and glucocorticoids. Restoration of euthyroidism is of paramount importance in heart failure (HF) patients. Emergency thyroidectomy for AIT unresponsive to medical therapy is recommended in patients with severe underlying cardiac disease or deteriorating cardiac function. Novel insights Thyroid arterial embolization (TAE) appeared as a salvage therapy in this patient. To the best of our knowledge, few case reports in the literature have described the embolization of the four thyroid arteries in AIT context. Endovascular embolization techniques are a valuable therapeutic option and can be considered in cases where standard forms of treatment are ineffective or involve unacceptable risks.
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