TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Biallelic loss-of-function variants in the thrombospondin-type laminin G domain and epilepsy-associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR disease association identified this gene is a cause of nonsyndromic hearing loss, but subsequent reports involving additional affected families have questioned this evidence and suggested a stronger association with ectodermal dysplasia. To clarify genotype-phenotype associations for TSPEAR variants, we characterized 13 individuals with biallelic TSPEAR variants.

Axillary vein thrombosis induced by an increasingly popular oscillating dumbbell exercise device: a case report.

A 53 year-old male presented with a one-day history of a swollen arm and dull, aching pain in the right upper extremity. The patient reported commencing exercising daily over the prior week with a modified, oscillating dumbbell; commonly referred to as a Shake Weight. Imaging revealed an occlusive thrombus in the right axillary, proximal brachial and basilic veins.

Migration of a fractured inferior vena cava filter strut to the right ventricle of the heart: a case report.

A 23 year old woman presented with sudden onset retrosternal chest pain following an attempt to move a heavy object from her vehicle. Multiple fractured struts of an inferior vena cava filter were identified in the distal right and left pulmonary artery branches, and in the free wall of the right ventricle. A small pericardial effusion was noted.