Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females.

[Imaging features of neurofibromatosis type 2].

Neurofibromatosis type 2 (NF2) is a separate entity from von Recklinghausen's disease (NF1) and is much less frequent than NF1. The major feature of NF2 is the presence in nearly all affected individuals of bilateral vestibular schwannomas. Imaging of the entire central nervous system is necessary, including evaluation of the cerebral parenchyma, the pontocerebellar angles, the spinal cord as well as the lumbar nerve roots, because the affected individuals can develop tumours from schwann cells, meningeal cells and from ependymocytes.

Thoughts on writing a letter to the editor.

The "Letters to the Editor" column in any journal is an excellent place to begin writing for publication. Opinions, clarifications, and reflections about articles can be valuable to other readers. Does an article get you thinking? If so, write a letter to the editor.

[Consumption of hand-hygiene products in health establishments in the west of France].

Objectives: The study had for aim to investigate hand hygiene product use in French hospitals between 2000 and 2003.

Design: A questionnaire was sent in 2002 and 2 more in 2003 and 2004 (for 2000 to 2003) requiring data on type of hospital, number of beds, staff members, admissions and patient-day, litres of mild soap, antiseptic soap and alcohol-based rub used and price per litre. Indices were calculated accordingly.

Assessment of cortical maturation with prenatal MRI. Part I: Normal cortical maturation.

Cortical maturation, especially gyral formation, follows a temporospatial schedule and is a good marker of fetal maturation. Although ultrasonography is still the imaging method of choice to evaluate fetal anatomy, MRI has an increasingly important role in the detection of brain abnormalities, especially of cortical development. Knowledge of MRI techniques in utero with the advantages and disadvantages of some sequences is necessary, in order to try to optimize the different magnetic resonance sequences to be able to make an early diagnosis.

Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation.

The fetal cortical maturation is a long process with predefined steps. Abnormalities can occur at different stages of cortical maturation, resulting in various malformations. They can result from disturbance in cell proliferation, cell differentiation, cell migration and in organization of the cortex.

[Opportunistic infections and sarcoidosis].

Introduction: In spite of CD4+ T-lymphocytopenia and corticosteroids-induced immune suppression, the risk of opportunistic infection is not usually considered to be increased in sarcoidosis.

Methods: We describe 5 cases of opportunistic infection in patients with sarcoidosis and CD4+ T- lymphocytopenia. A systematic review of the literature was done.

[French experience of gefitinib in non-small cell bronchial carcinoma].

Introduction: Gefitinib (Iressa, ZD 1839; AstraZeneca) is a selective Epidermal Growth Factor receptor tyrosine kinase inhibitor. In two randomized phase II trials (IDEAL 1 and IDEAL 2), it has demonstrated an activity against NSCLC, showing partial response and symptoms improvement rates respectively in about 20% and 40% of patients. Multivariate analyses revealed that being a woman, a non-smoker and having an adenocarcinoma was associated with response rate.

Perioperative education--perspective from the think tank.

The AORN Foundation and the National League for Nursing (NLN) cosponsored a think tank to address concerns about the shortage of perioperative nurses and the lack of perioperative experiences in many nursing programs. Think tank participants identified traditional and existing paradigms in nursing education and envisioned a new self-directed learning model for nursing school curricula, in which students would be held accountable for their own learning and faculty members would serve as learning facilitators. AORN and NLN members agreed to collaborate to spread the message that the perioperative arena is an excellent place for nursing students to develop the knowledge, skills, and values they will need to practice effectively in today's complex health care institutions.

An unusual case of neurocutaneous melanosis.

The neurocutaneous melanosis (NCM) is a rare, neuroectodermal dysplasia defined by the association of giant or multiple, nonmalignant pigmented cutaneous nevi with leptomeningeal melanosis or melanoma. As a rule, the cerebral pathological substratum is characterized by a melanocytic infiltration of the leptomeninges, often leading to hydrocephalus. The most frequent clinical symptomatology starts early in life, with convulsive seizures, psychomotor delay, intracranial hyperpression: the prognosis is severe.

Fetal brain injury.

Improvements in MRI techniques widen the indications for fetal brain imaging and fetal brain injury represents the third indication of fetal brain magnetic resonance imaging (MRI) after the evaluation of suspected central nervous system (CNS) malformations and ventricular dilatation. Optimal MR imaging technique is necessary in order to collect as much data as possible about the fetal brain. Diffusion images can be used routinely in addition to the standard protocol of fetal brain MRI that consists of T1 and T2 weighted images of the fetal brain.