Fulminant Infective Endocarditis Due to and Several Complications in a 6-Year-Old Girl: A Case Report.

is a gram-negative coccobacillus belonging to the HACEK group ( species, , and species) and is a common oropharyngeal colonizer of healthy young children. Osteoarticular infection is the most commonly reported invasive infection in children, usually presenting a mild clinical picture. However, it can also cause severe invasive infections, especially infective endocarditis, with a high complication rate.

A 13-Year-Old Male With Diagnosed Idiopathic Pulmonary Hypertension: Is it Really Idiopathic?

A 13-year-old male was referred after incidental finding of cardiomegaly on chest radiograph and signs of pulmonary hypertension on subsequent cardiology consult. He was diagnosed with idiopathic pulmonary hypertension, and came to our center for a second opinion. He was born from consanguineous parents.

Outcome of paediatric portopulmonary hypertension in the modern management era: A case report of 6 patients.

Portopulmonary hypertension is a rare but serious complication of portal hypertension or portosystemic shunting. Portopulmonary hypertension is an indication for liver transplantation or shunt closure. However, liver transplantation is contraindicated in patients with severe pulmonary arterial hypertension.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the Tyr138 (TM3) side chain, important for transport of taurine. The affected individuals presented with rapidly progressive childhood retinal degeneration, cardiomyopathy and almost undetectable plasma taurine levels.