Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: A case report and review of the literature

Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associated with bone marrow failure or malignancy. Janus kinase-2, myeloproliferative leukemia protein, and calreticulin are not mutated in TAR patients. Only four cases of leukemia were reported in TAR patients in the literature: three acute myeloid leukemia (AML) and one acute lymphoblastic leukemia. Of the three cases of AML found in TAR patient, only one was reported in an adult. We report a case of myelodysplastic syndrome progressing to AML with calreticulin driver mutation in an adult male with TAR syndrome who was successfully treated with hematopoietic allogeneic stem cell transplantation.     

Percutaneous transluminal mitral valvuloplasty in post Mitral valve repair and Aortic valve replacement patient

MV repair in the rheumatic population is feasible with acceptable long-term results. Incidence of mitral stenosis (MS) following mitral valve (MV) repair for severe rheumatic mitral regurgitation (MR) and usefulness of percutaneous transluminal mitral valvuloplasty in these patients is not described in literature. We report a case of successful PTMC in severe MS following MV repair for severe rheumatic MR.     

Conversion to EUS-guided internal gallbladder drainage from percutaneous cholecystostomy: A successful case using a novel plastic stent

For acute cholecystitis with high surgical risk, endoscopic ultrasound-guided gallbladder drainage (EUS-GBD) has shown high clinical and technical success rates. Dilation of the punctured fistula is a technically challenging aspect of EUS-GBD. Over-dilation makes stent insertion easier; however, it increases the risk of bile leakage. Currently, the endoscopic devices available for EUS-GBD are limited, which presents device-related shortcomings. When the stent cannot pass through the dilated fistula, the deployment of a conventional double-pigtail plastic stent requires discarding of the stent and re-puncturing of the gallbladder. Recently, a novel integral double-pigtail plastic stent tied with a pusher catheter that allows the stent to be pulled back on insertion failure was developed. Here, we describe a patient in whom EUS-GBD was successfully performed using this novel stent that enables adjustment during dilation, making EUS-GBD safer.