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Objective: While next generation sequencing (NGS) has become the technology of choice for clinical diagnostics, most genetic laboratories still use Sanger sequencing for orthogonal confirmation of NGS results. Previous studies have shown that when the quality of NGS data is high, most calls are indicated by Sanger sequencing, making confirmation redundant. We aimed at establishing a set of criteria that make it possible to distinguish NGS calls that need orthogonal confirmation from those that do not would significantly decrease the amount of work necessary to reach a diagnosis., Materials and Methods: A data set of 7976 NGS calls confirmed as true or false positive by Sanger sequencing was used to train and test different machine learning (ML) approaches. By varying the size and class balance of the training dataset, we measured the performance of the different algorithms to determine the conditions under which ML is a valid approach for confirming NGS calls in a diagnostic environment., Results: Our results indicate that machine learning is a valid approach to find variant calls that need more investigation, but in order to reach the high accuracy required in a clinical environment, the training data set must include enough observations and these observations must be well-balanced between true/false positive NGS calls., Conclusions: Our results show that it is possible to integrate the diagnostic NGS validation workflow with a machine learning approach to reduce the number of Sanger confirmations of high- quality NGS calls, reducing the time and costs of diagnosis.

Objective: To assess vitreous and plasma changes of vascular endothelial growth factor A (VEGF-A), adrenomedullin (ADM) and endothelin-1 (ET-1) in proliferative diabetic retinopathy (PDR)., Patients and Methods: 9 patients with PDR in type 2 diabetes (T2DM) and 11 age-matched non-diabetic patients were enrolled. The levels of VEGF-A, ADM and ET-1 were measured using an enzyme (ELISA) and a radioimmunoassay (RIA) both in vitreous and plasma samples., Results: Vitreous ADM and VEGF-A levels were significantly higher in PDR patients (p=0.04 and p=0.02), whereas no differences were found in ET-1 levels (p=0.29). Plasma ADM levels were significantly higher in the PDR group (p<0.01), whereas no significant differences were found in the plasma ET-1 and VEGF-A levels (p=0.30 and p=0.37). The ADM vitreous/plasma ratio was significantly reduced in PDR group., Conclusions: The role of ET-1 in advanced PDR is still controversial; it has been supposed a role limited to induce hypoxic state and promote angiogenesis in the early phases. Once the neo-angiogenic process starts, other mediators are mainly involved as VEGF and ADM. Our findings suggest that ADM is an important marker of advanced PDR as well as VEGF. Conversely, ET-1 is not significantly involved in the advanced stage of PDR.

Objective: The aim of this study is to develop a diagnostic-therapeutic algorithm for those suffering from tinnitus who seek emergency aid., Materials and Methods: A literature review has been performed on articles from the last 30 years., Results: It is important to activate medical or surgical diagnostic and therapeutic strategies, in order to safeguard and rehabilitate the various functions affected. Psychiatric comorbidity is the most frequent pathological condition of those with serious or catastrophic tinnitus. In these cases, mortality risk is linked to suicide, morbidity to tinnitus-correlated distress., Conclusions: Tinnitus, mainly linked to loss of hearing, is a frequent symptom among the population at large. About 7% of those affected by tinnitus turn to their doctor to solve their problem, while between 0.5 and 2% request urgent medical assistance. Their cry for help may be the result of an acute onset of tinnitus or the rapid impairment of an already chronic condition. Tinnitus is not considered an urgent ear, nose and throat (ENT) condition by the Associazione Otorinolaringologi Ospedalieri Italiani (AOOI) [Italian Association of Hospital ENT], even though there are many pathological conditions, sometimes serious, associated with tinnitus and emergency action is necessary to reduce the risk of morbidity and mortality.

Rhabdomyolysis is a rare presentation of hypokalemia, although muscle weakness is a well-known manifestation of hypokalemia. Primary aldosteronism is characterized by hypertension, suppressed plasma renin activity, increased aldosterone excretion and hypokalemia with metabolic alkalosis. Rhabdomyolysis is not common in primary aldosteronism. We present here a 40-year-old woman presenting with rhabdomyolysis accompanied by severe hypokalemia as heralding symptom of primary aldosteronism.

Objective: Primary aldosteronism (PA) represents the main cause of endocrine secondary arterial hypertension in which aldosterone production is inappropriately elevated. Primary hyperparathyroidism (PHPT) is an endocrine disease characterized by hypercalcemia due to overproduction of parathyroid hormone (PTH). Although these two endocrine pathologies are secondary to hypertension in middle aged population, the occurrence of the PHPT in PA patients has rarely reported in the literature. The aim of the study was to describe some PA patients with concurrent PHPT, referred in a tertiary center of arterial hypertension., Patients: We performed a retrospective study. In particular, the registry of 306 patients with PA seen in our center since 2004 was examined and revealed 8 patients (2.6%) with concurrent PHPT., Conclusions: There are several possible explanations for the association of these two endocrine disorders, including the combination was a random finding that PA inheres PHPT or vice versa.

Introduction: Adrenal pseudocysts are rare cystic masses that arise from the adrenal gland and which are usually non-functional and asymptomatic. We report a rare case of a giant hemorrhagic adrenal pseudocyst presenting with abdominal pain and we discussed the radiological features., Presentation of Case: A 75 year old man was admitted with acute abdominal pain post mild-trauma. Computed tomography (CT) of abdomen revealed a hemorrhagic mass measuring 18 cm located in the right suprarenal region, displacing the right kidney and liver. He subsequently underwent to contrast enhancement ultrasound (CEUS), which showed features suggestive for hemorrhagic adrenal pseudocyst. A complete endocrine working didn't show any hormonal hypersecretion. The patient underwent laparotomy and right adrenal mass was excised. Histological examination revealed giant hemorrhagic adrenal pseudocyst. The abdominal pain resolved after surgery., Conclusions: to the best our knowledge, this is the first case studied with CEUS reported in the literature.

A case of adrenal ganglioneuroma incidentally discovered during an abdominal ultrasound examination in a 26 year-old woman patient with recurrent episodes of dysuria. After a diagnostic work-up with laboratory and abdomen CT scan, the patient uderwent a laparotomic removal of the adrenal lesion. Histopathological examination of the adrenal mass confirmed the diagnosis.