[Mindfulness meditation, a source of professional wellbeing]. / La méditation de pleine conscience, une source de mieux-être professionnel.

Mindfulness meditation, by focusing attention on what we are experiencing, improves personal wellbeing which is then expressed in caregivers' professional practices. Nurses who practise mindfulness will be better positioned to help their patients.

[Knowing more about oneself to help one care for others]. / Mieux se connaître pour mieux soigner l'autre.

The onset of a disease such as multiple sclerosis is a profound existential trauma. The outlook of the disability is difficult to manage. Complementary approaches enable the caregivers to help the patients overcome difficulties and find ways to adapt.

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families. Twenty-one mutations in CYBB were classified as X91(0), X91(+) or X91(-) variants according to cytochrome b (558) expression. Point mutations in encoding regions represented 50 % of the mutations found in CYBB, splice site mutations 27 %, deletions and insertions 23 %. Eight mutations in CYBB were novel leading to X91(0)CGD cases. Two of these were point mutations: c493G>T and a double mutation c625C>G in exon 6 and c1510C>T in exon 12 leading to a premature stop codon at Gly165 in gp91phox and missense mutations His209Arg/Thr503Ile respectively. Two novel splice mutations in 5'intronic regions of introns 1 and 6 were found. A novel deletion/insertion c1024_1026delCTG/insT results in a frameshift introducing a stop codon at position 346 in gp91phox. The last novel mutation was the insertion of a T at c1373 leading to a frameshift and a premature stop codon at position 484 in gp91phox. For the first time the precise size of two large mutations in CYBB was determined by array-comparative genomic hybridization and carriers' status were evaluated by multiplex ligation-dependent probe amplification assay. No clear correlation between clinical severity and CYBB mutations could be established. Of three mutations in CYBA, NCF1 and NCF2 leading to rare autosomal recessive CGD, one nonsense mutation c29G>A in exon 1 of NCF2 was new.

Assessment of SARS-CoV-2 testing in children during a low prevalence period (VIGIL study 1).

OBJECTIVES: SARS-CoV-2 induces a broad spectrum of clinical manifestations, which overlap with other viral infections very common in children. We aimed to describe the percentage of positive SARS-CoV-2 RT-PCR tests in symptomatic and asymptomatic ambulatory children and to determine the predictive factors for positivity. PATIENTS AND METHODS: From June 1 to July 31, 2020, we conducted a cross-sectional prospective, multicenter study (13 hospital emergency units and 59 ambulatory pediatricians) throughout France. Children under 15 years of age with a prescription of nasopharyngeal SARS-CoV-2 RT-PCR test were enrolled. RESULTS: Among the 1,553 RT-PCR tests, 22 were positive (1.4%; 95%CI [0.9; 2.1]). In both univariate and multivariate analyses, the predictive factors for positivity were age below 2 years (OR: 4.5 [1.6; 12.7]) and history of contact (OR: 12.3 [4.6; 32.8]). CONCLUSIONS: In an epidemic stage with low SARS-CoV-2 circulation, sampling of children with nonspecific symptoms and without known contact could be questioned.