L’Artiste en milieu hospitalier : une expérience musicale en hémodialyse pédiatrique

Culture at the hospital is part of a policy of providing everyone access to culture. This article describes a musical intervention that provides patients and healthcare professionals a central role in creation; qualitatively assesses the benefits of these interventions for children and caregivers; evaluate the lessons learned from this ongoing experience in the pediatric hemodialysis unit of Rouen University Hospital. Ninety-minute sessions take place twice a week, with eight children aged from 18 months to 19 years, during dialysis. To assess the effects of artistic interventions in the unit, a qualitative methodology was chosen (observation grid). The progression of the project is evaluated to highlight what has helped the children and caregivers reach autonomy in artistic creation while respecting the time allotted, the artistic approach, and the esthetics of each participant's creation. The results indicate that this approach allows children to be actors, that the time at the hospital is relativized, and that the relationship with the healthcare professionals is less oriented towards care. A discussion follows on the place of the artist and the untapped potential of bringing patients to the creative act; the issue of esthetics, which then becomes secondary; the complementarity between musical activities and creation, and the role each actor plays in an artistic project. The hospital can provide access to culture; however, it is possible to go further and reveal patients’ creativity.     

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.     

Acute renal cortical necrosis due to acquired antiprotein S antibodies

Although varicella is a common disease of childhood, renal complications are quite rare. We report here the interesting case of a-22 month-old boy exhibiting renal cortical necrosis related to an acquired protein S deficiency following varicella. Ten days after the vesicle eruption appearance, he presented with ecchymosed heels, oligoanuric kidney failure, anemia [hemoglobin (Hb) 78 g/L], schizocytosis (2.5%), but normal platelet count. Kidney sonography and magnetic resonance imaging evoked renal cortical necrosis. All together, these features suggested acquired protein S deficiency secondary to varicella. Strikingly, it was confirmed by a dramatic decrease in protein S plasma activity and a huge increase in immunoglobulin (Ig)G antibodies against protein S in the plasma. Anticoagulation therapy in addition with plasmapheresis and steroid pulses allowed a dramatic decrease in the antibodies against protein S and recovery of normal protein S activity. Undelayed diagnosis and treatment did not avoid kidney insufficiency but prevented life-threatening complications. In the light of this case report, protein S deficiency due to antibody inhibition should be carefully monitored anytime in the context of varicella when kidney insufficiency or necrosis occurs.