CD59 is involved in lymphocyte signal transduction and regulates complement-mediated cell lysis by inhibiting the membrane attack complex. In the cases reported so far, congenital isolated CD59 ...deficiency was associated with recurrent episodes of hemolytic anemia, peripheral neuropathy, and strokes. Here, we report on a patient from a consanguineous Turkish family, who had a first episode of hemolytic anemia at one month of age and presented at 14 months with acute Guillain-Barré syndrome (GBS). The child suffered repeated infection-triggered relapses leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Although partly steroid-responsive, the polyneuropathy failed to be stabilized by a number of immunosuppressive agents. At the age of 6 years, he developed acute hemiparesis and showed progressive stenosis of proximal cerebral arteries, evolving into Moyamoya syndrome (MMS) with recurrent infarctions leading to death at 8 years of age. Post-mortem genetic analysis revealed a pathogenic p.(Asp49Valfs*31) mutation in CD59. Re-analysis of brain biopsy specimens showed absent CD59 expression and severe endothelial damage. Whereas strokes are a known feature of CD59 deficiency, MMS has not previously been described in this condition. Therefore, we conclude that in MMS combined with hemolysis or neuropathy CD59 deficiency should be considered. Establishing the diagnosis and targeted therapy with eculizumab might have prevented the lethal course in our patient.
•Congenital isolated CD59 deficiency leads torecurrent episodes of hemolytic anemia, peripheral neuropathy, and strokes.•In this 4th patient with thep.Asp49Valfs*31 mutation in CD59 reported, brain endothelium showed absent CD59 expression.•Moyamoya syndrome developed while systemicvasculitis could be excluded.•Targeted therapy against complement factor C5 with eculizumab might have prevented the lethal course in our patient.
Commissioned by Concert Artists Guild, Concerto for Recorder was composed for recorder artist Aldo Abreu and it is dedicated to him. The work alms at displaying Aldo's extraordinary virtuosity and ...immense range of expressivity while providing an attractive orchestral context for it, one that fluctuates between familiar musical terrain and very personal, even esoteric episodes. Although one rarely hears this instrument in an orchestral concert, the recorder is by no means foreign to the world of contemporary music. Many great pieces for solo recorder as well as recorder and practically any Instrumental combination exist—including electronics and computers—and a significant number of recorder concertos have been written in the past thirty years. Therefore, I did not want to re-invent the wheel by composing a showcase of effects for the recorder: wonderful examples of this already have been written. Instead, I wrote this concerto thinking of providing the recorder with an extended and elaborate musical discourse in which the instrument could shine for its intrinsic capacity to relate, react to, and influence the progress of this discourse. The work never looses site of the tradition with which the recorder is commonly associated, such as diverse Medieval and Baroque music styles. At the same time, the work creates a link between the recorder and another rich and ancient tradition which is historically unrelated, namely South American pan flute music. The work is divided in three movements. The first movement opens up with a simple and sustained melody somewhat reminiscent of a cantus firmus . This plainsong becomes progressively corrupted by a tenacious soprano recorder part, highly chromatic and rhythmically very challenging. While the plainsong eventually explodes in all sorts of ways, the original version is heard at different points along the way in order to keep the ears on familiar territory and appraised of the transformation that has taken place. The second movement has the structure of a rondo. The twist here is that the rondo's ritornello, or recurrent refrain, is not a motive, much less a melody but a burst of sound, a quick wave of sonic texture which “freezes” every time at its peek moment in order to leave room for the tenor recorder to sing evocatively. This burst of sound finds resolution only at the end of this movement, allowing the recorder to prepare the rhythmically exciting third and last movement. This final movement is a rhapsody based on a typically buoyant Peruvian genre of music called Huayno. The soloist is asked to play the alto and tenor recorders simultaneously, while also humming, in order to emulate the beautifully distorted sound of the Zampoña , one of the many varieties of Andean wooden flutes.
