The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

neurogenetics - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from...     

Anticoagulation Strategies in Patients With Cancer: JACC Review Topic of the Week

Patients with active cancer are at an increased risk of arterial and venous thromboembolism (VTE) and bleeding events. Historically, in patients with cancer, low molecular weight heparins have been preferred for treatment of VTE, whereas warfarin has been the standard anticoagulant for stroke prevention in patients with atrial fibrillation (AF). More recently, direct oral anticoagulants (DOACs) have been demonstrated to reduce the risk of venous and arterial thromboembolism in large randomized clinical trials of patients with VTE and AF, respectively, thus providing an attractive oral dosing option that does not require routine laboratory monitoring. In this review, we summarize available clinical trial data and guideline recommendations, and outline a practical approach to anticoagulation management of VTE and AF in cancer.     

Silicone-based simulation models for peripheral nerve microsurgery

Background

There is a need for a peripheral nerve model on which surgeons-in-training can simulate the repair of nerve injuries at their own pace. Although practicing on animal models/cadavers is considered the “gold standard” of microsurgical training, the proposed model aims to provide a platform for improving the technical skills of surgical trainees prior to their practice on cadaver/animal models. In addition, this model has the potential to serve as a standardized test medium for assessing the skill sets of surgeons.

Premature Ticagrelor Discontinuation in Secondary Prevention of Atherosclerotic CVD: JACC Review Topic of the Week

Ticagrelor is a cornerstone of modern antithrombotic therapy alongside aspirin in patients with acute coronary syndrome and after percutaneous coronary intervention. Adverse effects such as bleeding and dyspnea have been associated with premature ticagrelor discontinuation, which may limit any potential advantage of ticagrelor over clopidogrel. The randomized trials of ticagrelor captured adverse events, offering the opportunity to more precisely quantify these effects across studies. Therefore, a meta-analysis of 4 randomized clinical trials of ticagrelor conducted between January 2007 and June 2017 was performed to quantify the incidence and causes of premature ticagrelor discontinuation. Among 66,870 patients followed for a median 18 months, premature ticagrelor discontinuation was seen in 25%; bleeding was the most common cause of discontinuation followed by dyspnea. Versus the comparators, the relative risk of dyspnea-related discontinuation during follow-up was 6.4-fold higher, the relative risk of bleeding was 3.2-fold higher, and the relative risk of discontinuation due to any adverse event was 59% higher for patients receiving ticagrelor. Understanding these potential barriers to adherence to ticagrelor is crucial for informed patient-physician decision making and can inform future efforts to improve ticagrelor adherence. This review discusses the incidence, causes, and biological mechanisms of ticagrelor-related adverse effects and offers strategies to improve adherence to ticagrelor.     

Investigation of hearing loss in patients with acute brucellosis by standard and high-frequency audiometry

This study aimed to determine the effect of acute brucellosis on the auditory system. Forty-two patients with acute brucellosis were evaluated clinically, and with serological and audiological tests, before and after treatment. Hearing threshold averages were calculated at 11 different frequencies (250-8000 Hz) of the auditory airway, and statistical analysis was performed. The average hearing thresholds were > 20 dB, with standard audiometry at 6000-8000 Hz, and < 20 dB at all other frequencies. After treatment, the average auditory threshold decreased to < 20 dB at 6000-8000 Hz (p < 0.0001). Pure-tone hearing thresholds were improved at all frequencies after treatment, with statistically significant differences at all frequencies except 12,000, 14,000 and 16 000 Hz (p < 0.05). There was no permanent hearing loss caused by acute brucellosis, and hearing thresholds were restored after treatment. It was concluded that acute brucellosis affects the auditory system, especially at high frequencies, and that patients with all forms of brucellosis should be evaluated for hearing loss.     

Multiple brain metastases from malignant thymoma.

A rare case of thymic carcinoma with multiple brain metastasis is reported. In our extensive review of the literature only six of 30 reports of intracranial thymoma metastasis describe multiple metastases. A 38-year-old man presented with signs of raised intracranial pressure that had began 15 days previously. Cranial MRI revealed over 70 cystic lesions in the supra and infratentorial regions. Stereotactic biopsy was planned. On the second day of his admission he deteriorated and died the following day. The autopsy revealed a mass in the mediastinum. In the brain parenchyma were multiple cystic lesions between 0.5 and 3 cm in diameter. Histopathologically they were diagnosed as metastases from the thymic carcinoma. The mean survival with a single brain metastasis is approximately 256 days, whereas with multiple brain metastases it is only 64 days, thus treatment of this tumor demands prompt surgery whenever possible and optimal adjuvant therapy.     

Brucella peritonitis and leucocytoclastic vasculitis due to Brucella melitensis.

Brucellosis is a multisystemic disease that rarely leads to a fatal outcome. While reticuloendothelial system organs are mostly affected, peritonitis and posthepatitic cirrhosis are also complications of brucellosis, though they are very rare. Brucella spp. can also trigger immunological reactions. We report a case of brucellosis with peritonitis, renal failure and leucocytoclastic vasculitis caused by Brucella melitensis, which led to a fatal outcome. Brucellosis should be considered in the differential diagnosis of vasculitic diseases, especially in endemic areas.