Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.

Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare lysosomal storage disorders caused by deficient acid ceramidase (ACDase) activity. Although both conditions are caused by mutations in the ASAH1 gene, clinical presentations differ considerably. FD patients usually die in childhood, while SMA-PME patients can live until adulthood.

Protocol for establishing a model for integrated influenza surveillance in Tamil Nadu, India.

The potential for influenza viruses to cause public health emergencies is great. The World Health Organisation (WHO) in 2005 concluded that the world was unprepared to respond to an influenza pandemic. Available surveillance guidelines for pandemic influenza lack the specificity that would enable many countries to establish operational surveillance plans.

Pathophysiological characterization of the Townes mouse model for sickle cell disease.

A deeper pathophysiologic understanding of available mouse models of sickle cell disease (SCD), such as the Townes model, will help improve preclinical studies. We evaluated groups of Townes mice expressing either normal adult human hemoglobin (HbA), sickle cell trait (HbAS), or SCD (HbS), comparing younger versus older adults, and females versus males. We obtained hematologic parameters in steady-state and hypoxic conditions and evaluated metabolic markers and cytokines from serum.

Abdominal Pain in a Patient With Giant Cell Arteritis.

Giant cell arteritis (GCA) is a large vessel vasculitis seen in the elderly. It is primarily treated with corticosteroids, which are known to have a multitude of adverse effects, including predisposition to infection and intestinal diverticular perforation. We describe a unique case of a GCA patient with the subtle presentation of acute abdomen.

Outcomes of Cardiogenic Shock With Autoimmune Rheumatological Disorders.

Aims: Data on cardiogenic shock (CS) in autoimmune diseases (AID) is limited. Our study aims to evaluate in-hospital outcomes of CS in hospitalized patients with underlying AID compared with patients without AID.

Methods: The National Inpatient Sample (NIS) database years 2011-17 was used to identify hospitalizations for CS.