Notes

Noncontrast Pediatric Human brain Perfusion: Arterial Whirl Labels as well as Intravoxel Incoherent Action.
When discussing therapeutic options, the advantages and disadvantages should be considered case by case based on disease staging.
Many controversies remain about the management of Hurthle cells tumors and many variants of papillary thyroid carcinoma. Although the management of our case did not change, more studies are necessary to analyze the evolution of patients with multiple thyroid neoplasms. When discussing therapeutic options, the advantages and disadvantages should be considered case by case based on disease staging.Cushing syndrome in the paediatric age group is very difficult to diagnose due to atypical presenting features in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome in children and it has characteristic gross and microscopic pathologic features. We report a case of PPNAD in a 16-year-old boy who was evaluated in our hospital with chief complaints of poor height velocity and rapid weight gain for 2-3 years before presentation. Proper evaluation showed ACTH-independent Cushing syndrome with normal imaging. Total bilateral adrenalectomy was performed followed by hormones replacement. 6 months after surgery, significant acceleration of height velocity was noticed. Patient also lost body weight and developed secondary sexual characteristics.Reninoma (juxtaglomerular cell tumor) is a rare cause of renin-mediated hypertension. learn more We reported a 18 year old woman with history of hypertension for 3 years. Laboratory findings showed severe hypokalemia and markedly increased levels of renin and aldosterone. Kidney ultrasonography, abdominal computed tomography and magnetic resonance imaging revealed a small mass in the middle region of the right kidney. The patient underwent nephron-sparing surgery; immunohistochemical results demonstrated typical features of reninoma. Postoperatively, blood pressure and potassium levels were normal at 1 month follow-up.Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited syndrome affecting 1 per 3000-4000 individuals. Patients with the neurofibromin gene mutation are more likely to develop malignancies. We report the case of a 57-year-old female with NF-1 who presented during her lifetime three neoplasms endometrial cancer, adrenocortical carcinoma (ACC) and gastrointestinal stromal tumor (GIST). We describe the clinical, radiological and histopathological features of this rare condition. There have been reported only 10 cases of ACC together with NF-1 and 18 cases of ACC with other tumors. To the best of our knowledge it is the first reported case of NF-1 diagnosed with three cancers. Our report indicates the importance of careful and all-embracing care of patients with NF-1 in order to make a thorough investigation of any symptoms that might be a manifestation of a malignant disease.Human populations are faced to the COVID-19 pandemic due to the emerging SARS-CoV-2 coronavirus originating from Wuhan (China) and with dramatic Public Health consequences. Despite periods of panic, the scientific community demonstrated an incredible innovation potential and energy ending up in one year with new vaccines to be used in population. Researchers are interrogating on how individual genetic differences contribute to the diversity of clinical manifestations or ethnic and geographic disparities of COVID-19. While efforts were spent to understand mechanistically the infectious potential of the virus, recent progresses in molecular genetics and bioinformatics allowed the characterization of viral sequence and construction of phylogeographical maps of viral dispersion worldwide. These data will help understanding epidemiological disparities among continents and ethnic populations. Much effort was also spent in analyzing host genetics by studying individual genes involved in innate and immune responses or explaining pathogenesis of comorbidities that complicate the fate of elderly patients. Several international consortia launched already Genome wide Association Studies (GWAS) and whole genome sequencing strategies to identify genetic markers with immediate application in patients at risk of respiratory failure. These new genetic data are important not only for understanding susceptibility factors for COVID-19 but they also contain an important message of hope for mankind warranting our survival and health.
A persistently elevated thyroid stimulating hormone (TSH) level is a common clinical problem in primary hypothyroidism patients treated with levothyroxine (LT4). "Pseudomalabsorption", which is characterized by poor adherence,should be considered in cases of refractory hypothyroidism after excluding other causes, such as malabsorption.

We reviewed the features of the patients with persistently elevated TSH despite high-dose LT4 therapy.

Symptom evaluation, medications, comorbid diseases and physical examination features of five patients who applied to our outpatient clinic between 2016-2019 and diagnosed with LT4 pseudomalabsorption were retrospectively analyzed.

The LT4 loading test was performed with an oral dose of 1,000 µg LT4. Demographic parameters, BMI, thyroid function tests, laboratory parameters for malabsorption were recorded.

We observed at least two-fold increase of free thyroxine levels during the test, which was considered pseudomalabsorption. Euthyroidism was achieved in two patients by increasing the LT4 dosage and in one patient with a change in the preparation. TSH decreased significantly after being informed about compliance in one patient. Another one was given LT4 twice weekly, but TSH remained elevated because of nonadherence.

The LT4 loading/absorption test is a valuable tool to confirm the diagnosis of pseudomalabsorption. Informing patients, changing the preparation, increasing the dose, supervised intake of daily/weekly LT4 forms are treatment options for managing these cases.
The LT4 loading/absorption test is a valuable tool to confirm the diagnosis of pseudomalabsorption. Informing patients, changing the preparation, increasing the dose, supervised intake of daily/weekly LT4 forms are treatment options for managing these cases.
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