Congenital Haptoglobin Deficiency

Congenital Pancreatic Lipase Deficiency.

The purpose of this communication is to record two families, each consisting of two children. The four children have presented an identical clinical picture associated with a congenital severe reduction of pancreatic lipase, and have responded to persistent treatment with lipase given as pancreatin. A brief reference was made to Case 1 in the Charles West Lecture, delivered before the Royal Col...

Haptoglobin deficiency facilitates the development of autoimmune inflammation.

Haptoglobin (HP) is an acute phase protein synthesized by liver cells in response to IL-6. HP has been demonstrated to modulate the immune response and to have anti-inflammatory activities. To analyze HP's effect on autoimmune inflammation, we here studied the course of EAE induced by immunization of Hp knockout (Hp(-/-)) and syngeneic WT mice with myelin oligodendrocyte glycoprotein peptide (M...

Haptoglobin deficiency determines changes in adipocyte size and adipogenesis

Haptoglobin (Hp) is an inflammatory and adiposity marker, its expression during obesity being specifically induced in the white adipose tissue (WAT). We previously reported that when challenged with a high fat diet (HFD) Hp-/- mice are partially protected from the onset of insulin resistance and hepatosteatosis. The aim of the present study was to get further insights into Hp function in WAT. T...

Tendon Transfer in Congenital Deficiency of Flexor Pollicis Longus

Congenital deficiency of meibomian glands.

A 16-year-old girl presented with contact lens intolerance. She was found to have a marked deficiency of meibomian glands in the upper lids and almost total absence in the lower lids. Evidence of tear film instability was found and attributed to deficient lid oil production. A daily wear soft contact lens was later fitted and tolerated.