Objectives: To examine the prevalence of genetic alterations of thyroid-stimulating hormone receptor (TSHR) gene and sodium-iodine symporter (NIS) in a series of thyroid fine needle biopsy (FNB) specimens with indeterminate cytology, and to assess the correlation of the type of genetic changes with clinical features and follow-up results in the target thyroid nodule.Methods: Between February 2015 and September 2017, 388 consecutive FNBs with indeterminate cytology were evaluated for TSHR mutations and NIS gene overexpression using ThyroSeqV.2 next-generation sequencing (NGS) panel. Medical records were reviewed for target nodules.Results: Among 388 indeterminate FNBs, TSHR mutations and/or NIS overexpression were detected in 25 (6.4%) nodules. Ten nodules (2.6%) harbored TSHR mutations only, 7 nodules (1.8%) over-expressed NIS gene only, and 8 nodules (2.1%) had both alterations. The TSHR mutations were located between codons 281 and 640, with codon 453 being the most frequently affected. The allelic frequency of the mutated TSHR ranged from 6 to 36%. One nodule with NIS overexpression was simultaneously detected EIF1AX mutation and GNAS mutation. Nodules with TSHR mutations and/or NIS overexpression presented hyperfunctioning (n = 4), hypofunctioning (n = 5), and isofunctioning (n = 3) on the available thyroid scintigraphies. Eight cases accompanied with hyperthyroidism in which only 1 was caused by the target nodule. Evidence of co-existing autoimmune thyroid disease (AITD) and multinodular goiter were found in 52% and 52% of cases, respectively. Seven nodules underwent surgeries and all were benign on final pathology. None of 9 nodules with follow-up by ultrasound (3~33 mon, median 12 mon) showed grow in size.Conclusions: TSHR mutations and/or NIS overexpression can be detected in pre-operative FNB specimens using the NGS approach. These genetic alterations occurred in 6.4% thyroid nodules in this consecutive series with indeterminate cytology. They present not only in hyperfunctioning nodules but also in hypo- or iso-functional nodules, indicating their prevalence may be higher than previously expected. Co-existing AITD was common in cases with these molecular alterations. None of our patients with TSHR mutations and/or NIS overexpression manifested malignant outcomes. How to use these two molecular markers in thyroid FNBs to guide our clinical practice warrants further investigation.

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The distal radioulnar joint plays a critical role in pronation and supination of the forearm and can be injured with traumatic axial loading of the wrist. This is a case report of a 36-year-old male who presented to the emergency department with left upper extremity pain after falling onto an outstretched arm. The physical exam showed swelling and decreased range of motion of the elbow and wrist due to pain. Radiographs demonstrated left posterolateral elbow dislocation and left dorsal distal radioulnar joint dislocation. The patient underwent a successful closed reduction and splinting of both the left elbow and left distal radioulnar joint with good outcomes on follow up a week later. Since elbow dislocations are usually easily recognized and commonly treated in the emergency department, this case report focuses on the rarer finding of associated distal radioulnar joint dislocation because these injuries are often underdiagnosed or missed on initial assessment. Topics Distal radioulnar joint dislocation, DRUJ, DRUJ dislocation, elbow dislocation, orthopedics, ortho, upper extremity, wrist injury, elbow injury, closed reduction.

Bladder rupture is a rare condition often seen in trauma patients that is associated with a high mortality. 1 Spontaneous, intraperitoneal rupture is even rarer in the literature. In this case report we present a middle-aged woman presenting to the emergency department (ED) with abdominal pain, the need to strain to void, and gross hematuria with prior history of urological procedures and cervical cancer. A computed tomography (CT) cystography revealed an intraperitoneal bladder rupture, and the patient underwent an emergent laparotomy. The patient’s postoperative course was uneventful and she was discharged with a Foley catheter. This case represents the importance of keeping bladder rupture in the differential diagnosis even without a history of trauma. Furthermore, an expeditious diagnosis, preferably with CT cystography, and management of the rupture is essential in assuring fortunate outcomes. Topics Bladder rupture, urological emergencies, spontaneous bladder rupture.