Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.

Objective: Long-term outcomes of patients with mucopolysaccharidosis (MPS) VI treated with galsulfase enzyme replacement therapy (ERT) since infancy were evaluated.

Methods: The study was a multicenter, prospective evaluation using data from infants with MPS VI generated during a phase 4 study (ASB-008; Clinicaltrials.govNCT00299000) and clinical data collected ≥5 years after completion of the study.

A Rare Cause of Shock in an Infant: Cor Triatriatum.

Congenital heart disease can be difficult to diagnose in infants because they often present with nonspecific symptoms. Their clinical presentation can resemble that of respiratory infections or sepsis, yet typical treatments for these conditions such as fluid resuscitation may worsen their course. We report a case of an 8-week-old boy who had several weeks of viral symptoms and eventually presented to the emergency department in shock.

Elevated tricuspid regurgitant jet velocity in subgroups of thalassemia patients: insight into pathophysiology and the effect of splenectomy.

A high tricuspid regurgitant jet velocity (TRV) signifies a risk for or established pulmonary hypertension (PH), which is a serious complication in thalassemia patients. The underlying pathophysiology in thalassemia subgroups and potential biomarkers for early detection and monitoring are not well defined, in particular as they relate to spleen removal. To better understand some of these unresolved aspects, we examined 76 thalassemia patients (35 non-transfused), 25 splenectomized non-thalassemia patients (15 with hereditary spherocytosis), and 12 healthy controls.

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI.

Imaging and surgical repair of a bifurcating aortico-left ventricle tunnel.

Aortico-left ventricle tunnels are rare congenital anomalies with variable anatomy; however, by definition, they consist of an abnormal connection between the ascending aorta and the left ventricle. Diagnosis is usually by echocardiography, and treatment typically uses a two-patch surgical repair. Herein, we describe a case of an aortico-left ventricle tunnel, with the tunnel bifurcating before entering the left ventricle.

Pulmonary hypertension in thalassemia: association with platelet activation and hypercoagulable state.

The pathogenesis of pulmonary hypertension (PAH), a serious complication in thalassemia, is not well understood. Thromboembolism has been postulated as one of the causative factors; however, there are currently limited specific data on its role. To examine whether increased platelet activation and hypercoagulability are linked to PAH, 25 beta-thalassemia major and beta-thalassemia intermedia patients were evaluated with Doppler echocardiograms for estimation of pulmonary artery pressure and with laboratory assays for indications of a prothrombotic state.

Touch, Justification, and Sex: Influences on the Aversiveness of Spatial Violations.

Hall's pioneering studies designated discrete zones of interpersonal space appropriate to levels of intimacy within a culture. This project investigated variables expected to affect reactions of Ss to entry into their intimate zone by strangers. Violations of Hall's intimate zone were predicted to be more aversive to males when accompanied by physical contact and when lacking prior psychological justification.