A father and his son with systemic AL amyloidosis

A father and his son with systemic AL amyloidosis.

criminate between driver and passenger mutations, as was also shown recently in the context of FLT3. In the MOLT-4 and RPMI-8402 cell lines, we identified another transcript variant, which lacks exons 7 and 8 (nucleotides 648-1178). This results in a shift in the open reading frame with generation of a premature stop codon in exon 9. Consequently, a truncated form of JAK1 is expressed in these ...

Peritoneal amyloidosis with myopathy in primary systemic (AL) amyloidosis.

To cite: Al-Adhami A, Steiner K, Ellis S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016216548 DESCRIPTION We present an unusual case of primary systemic amyloidosis presenting with myopathy and peritoneal amyloid deposition. Peritoneal amyloid is a rare disease with few published cases. An 85-year-old man was referred to rheumatology with walking difficulti...

Systemic AL Amyloidosis with Colonic Submucosal Hematoma

Like father like son

The natural environment is in a state of constant flux and living organisms are perpetually challenged to adapt to these changes. Yet the mechanisms of adaptation, which lead to the development of new characteristics or behaviours, have troubled philosophers and scientists since the days of ancient Greece. In fact, it was not until 1859, when Charles Darwin (1809– 1882) published The Origin of ...

A case of primary systemic amyloidosis with nail dystrophy

We hereby report a 79-year-old Iranian man presenting with nail dystrophy and subsequent development of purpuric and ecchymotic plaques, hemorrhagic bullae, and infiltrated papules on the head, neck and trunk. Histological examination of the gingiva, bone marrow aspiration, and biopsy confirmed the diagnosis of primary systemic amyloidosis. In this case, nail dystrophy was the presenting sign o...