Publications by authors named "N Pouvreau"
Background: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH forms at the clinical level.
Methods: 7 patients with newly identified mutations in (MCPH3) were investigated by performing prospective, extensive and systematic clinical, MRI, psychomotor, neurosensory and cognitive examinations under similar conditions.
Article Synopsis
- The study aims to classify and describe the unique dermatological features of cardiofaciocutaneous syndrome (CFCS), comparing them to existing literature and other similar conditions like Noonan syndrome (NS) and Costello syndrome (CS).
- The research involved a comprehensive 4-year analysis of 45 patients, revealing common skin issues such as hair abnormalities, keratosis pilaris, and multiple melanocytic naevi among those with CFCS.
- Findings suggest that specific skin symptoms can help distinguish CFCS from NS and CS, and while certain treatments showed promise for conditions like palmoplantar hyperkeratosis, no clear genotype-phenotype connection was identified.
Article Synopsis
- Autosomal recessive microcephaly (MCPH) is a brain disorder where kids have smaller brains, leading to varying levels of intellectual disability.
- A gene called ASPM is linked to this condition, and mutations in this gene are found in many MCPH patients.
- Researchers studied 47 new patients with different ASPM mutations and looked at brain structure and cognitive abilities, finding that not all patients with microcephaly have intellectual difficulties.
Introduction: Subcutaneous hydration (hypodermoclysis) and drug administration is a widely used method of analgesic therapy in adult palliative care medicine. Very little is known about its use in neonatal medicine. Evidence-based guidelines do not exist due to a lack of data.
View Article and Find Full Text PDFNoonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients. We report a series of 44 patients from 30 pedigrees (including nine multiplex families) with mutations in RIT1.
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