Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion.

Neonatal screening has excellent coverage in France. Data from the foreign literature raise questions about the informed consent to this screening. The Neonatal Screening and Informed Consent (DENICE) study was designed to assess whether information on neonatal screening provided for families in Brittany allows for informed consent.

Patent Foramen Ovale Closure or Anticoagulation vs. Antiplatelets after Stroke.

Background: Trials of patent foramen ovale (PFO) closure to prevent recurrent stroke have been inconclusive. We investigated whether patients with cryptogenic stroke and echocardiographic features representing risk of stroke would benefit from PFO closure or anticoagulation, as compared with antiplatelet therapy.

Methods: In a multicenter, randomized, open-label trial, we assigned, in a 1:1:1 ratio, patients 16 to 60 years of age who had had a recent stroke attributed to PFO, with an associated atrial septal aneurysm or large interatrial shunt, to transcatheter PFO closure plus long-term antiplatelet therapy (PFO closure group), antiplatelet therapy alone (antiplatelet-only group), or oral anticoagulation (anticoagulation group) (randomization group 1).

[Withdrawal of artificial nutrition and hydration in severe stroke: medical, legal and ethical considerations].

In the majority of cases, severe stroke is accompanied by difficulty in swallowing and an altered state of consciousness requiring artificial nutrition and hydration. Because of their artificial nature, nutrition and hydration are considered by law as treatment rather basic care. Withdrawal of these treatments is dictated by the refusal of unreasonable obstinacy enshrined in law and is justified by the risk of severe disability and very poor quality of life.

Internal consistency and validity of the Spanish version of the quality of life questionnaire specific for obstructive sleep apnea: sleep apnea quality of life index.

Introduction: The objective of the present study was to validate the Spanish version of the SAQLI, which is a health-related quality of life (HRQL) questionnaire specific for sleep apnea-hypopnea syndrome (SAHS), and to assess its sensitivity to change.

Material And Methods: A multicenter study performed in a group of patients with SAHS (apnea-hypopnea index [AHI] ≥5) who had been referred to the centers' Sleep Units. All patients completed the following questionnaires: SF-36, FOSQ, SAQLI and Epworth scale.

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes.