Prognostic factors of long-term outcome in cases of severe traumatic brain injury.

Introduction: The purpose of this monocentric study was to assess the long-term outcome of a group of severe traumatic brain-injured patients and explore the prognostic values of some clinical and paraclinical parameters available at the initial stage.

Methodology: The patients included were victims of severe traumatic brain injuries in 2007 or 2008. A standardized assessment was performed for each patient including clinical, radiological, and electrophysiological data collected at the initial stage, The outcomes were assessed at least 2 years after injury.

[NSAIDs and risk of anastomotic leakage after gastrointestinal surgery].

Non-steroidal anti-inflammatory drugs (NSAIDs) are among the most popular analgesics administered after open or laparoscopic gastrointestinal surgery. By blocking the cyclooxygenase, they are likely to inhibit fibroblastic response to tissue injury and therefore to impair the healing process. Recent publications, based on large cohorts of patients, have highlighted the significant association between AINS administration and the occurrence of postoperative anastomotic complications.

[Centre de référence sur les agents tératogènes (CRAT): a pioneer center].

Le Centre de référence sur les agents tératogènes (CRAT), founded in 1975, is the first national and international public organization especially involved in the problem of drugs during pregnancy, and during this period of time has been responsible for many initiatives in this field: health care providers information and counsel service, innovating risk assessment methodology, new method for clinical data collection leading to a database including more than 50 000 exposed pregnancies, innovative free access internet website (http://www.lecrat.org), multidisciplinary expert group in French medicines agencies (Afssaps/ANSM) and foundation of a European network "European network teratology information service" (ENTIS).

Occupational hypersensitivity pneumonitis in a baker: a new cause.

Bakers are exposed daily to flour and may be susceptible to immunologic occupational diseases. A 30-year-old, nonsmoking, female baker was referred for progressive dyspnea on exertion, basal crackles on auscultation, restrictive lung function, decreased diffusing capacity of the lung for carbon monoxide, ground glass hyperdensities with a mosaic pattern on high-resolution CT scan, 25% lymphocytosis by BAL, and cellular chronic bronchiolitis with peribronchiolar interstitial inflammation by lung biopsy specimen. Cultures from flours isolated nine species, including Aspergillus fumigatus.

Outcomes after bilateral hand allotransplantation: a risk/benefit ratio analysis.

Background: The clinic era of composite tissue allotransplantation was inaugurated by hand allotransplantation in 1998, giving rise to many controversies and scepticism because of the lifelong immunosuppression, the unclear risk-benefit ratio, and the uncertain long-term functional results of the procedure. The aim of this study was to evaluate the outcomes and the risk/benefit balance in bilateral hand allotransplantation.

Methods: The study included 5 cases of bilateral hand allotransplantation performed in a single center, with a follow-up ranging from 3 to 13 years.

Patterns of care and survival of glioblastoma patients: a comparative study between 2004 and 2008 in Lyon, France.

Introduction: The treatment of glioblastomas (GBMs) has changed significantly since 2005. However, the extent to which this change has improved overall survival (OS) of patients treated outside clinical trials remains to be determined.

Methods: We compared the patterns of care and OS of all GBM patients diagnosed in 2004 (n=105) and in 2008 (n=130) in our center.

[Post-hospital home care after ambulatory surgery].

Ambulatory surgery should correspond to mastered acts performed on selected patients. This makes home care unnecessary in the vast majority of the cases. The development of outpatient surgery toward more complex procedures on more vulnerable patients would justify a specific home care in some circumstances.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultrastructural defects and mutations identified in >20 genes. Next generation sequencing (NGS) technologies therefore present a promising approach for genetic diagnosis which is not yet in routine use.

ELLIPSE Study: a Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder in which epistaxis is the most frequent manifestation, responsible for high morbidity. Management of this symptom has no standard, and local treatments are often aggressive. Their efficacy is variable and has not been proven.

Pineal region tumors: Clinical symptoms and syndromes.

The present paper investigates the clinical picture and the different clinical signs that reveal pineal region tumors or appear during the course of the follow-up. Biological malignancy and tumor extension determine the semiology and its setting up mode. Typical endocrine signs, dominated by abnormal puberty development, are frequently a part of the clinical scene.

ZEB2, a new candidate gene for asplenia.

Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the gene.

[Placental immunoglobulin transfer].

Placental immunoglobulin transfer is an active process that involves the FcRn receptor and is particularly intense during the last trimester. The transferred immunoglobulins reflect the mother's immunological experience, and allow passive immunity to the fetus and to the newborn during the first months of life. The neonatal protection conferred by placental immunoglobulins transfer is optimized by term delivery, normal maternal titers of total immunoglobulins, adequate maternal specific immunoglobulin titers, antigen immunogenicity, and a healthy placenta.

[Micturition and cognition].

Purpose: The physiopathology of the voiding and urinary continence was one of the hot topic of research these last few years. Unfortunately, anyone have already found a unique cause which could explain urinary incontinence (urge or stress). The concept of cognitive function highlights new ways of research to show the fundamental role of the cortex and the sub-cortex in these diseases.

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Brugada syndrome (BrS) is a condition defined by ST-segment alteration in right precordial leads and a risk of sudden death. Because BrS is often associated with right bundle branch block and the TRPM4 gene is involved in conduction blocks, we screened TRPM4 for anomalies in BrS cases. The DNA of 248 BrS cases with no SCN5A mutations were screened for TRPM4 mutations.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Background: Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation.

Methods: HCM probands were screened for mutation in the MYH7, MYBPC3, TNNT2 and TNNI3 genes.

Evidence for genetic heterogeneity in Carvajal syndrome.

Carvajal syndrome is a rare syndrome with woolly hair, palmoplantar keratosis and dilated cardiomyopathy. The inheritance of the mutation is autosomal recessive. As a causal gene, the desmoplakin gene (DSP) has so far been identified; it encodes an essential component of desmosomes, a cell-cell structure aimed at keeping cells attached to each other in tissues in which cells are often exposed to strong shear forces.

[Fabry disease among hypertrophic cardiomyopathy of genetic origin].

Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2. In Fabry disease, an exclusive or nearly exclusive cardiac expression is possible and referred to as "cardiac variant".

A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.

Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 missing teeth, the typical pattern of oligodontia being absent 2nd premolars and absent 2nd and 3rd molars.

[Feasibility study of a call centre to reduce non-scheduled visits and unjustified consultations in pediatric emergencies units].

Introduction: Non-justified and non-scheduled visits to emergency units are ever increasing and consequently overburden their staff. Because it seems necessary to meet this heavy demand of urgent health care, a possible solution could be to set up phone call centers dedicated to pediatric care. First, when people call the emergency number, the SAMU doctors will field these calls and immediately determine the degree of urgency of the situation before transferring the call to the appropriate standardized call center who will then advise the caller as to how to proceed.

[Advances in adults' gliomas biology, imaging and treatment].

A better understanding of gliomas biology is now leading to a combined histo-molecular classification of these tumors. In anaplastic gliomas ongoing studies depend on 1p/19q codeletion status and in glioblastomas on MGMT methylation status. Advanced brain tumor imaging elicits a better identification of gliomas evolutive potential of.