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Plaisancie J.,Toulouse University Hospital Center | Bailleul-Forestier I.,University Paul Sabatier | Gaston V.,Toulouse University Hospital Center | Vaysse F.,University Paul Sabatier | And 21 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED. © 2013 Wiley Periodicals, Inc.

The concept of psychological pain has been developped during the xixth century in mental medicine. It became a major symptom for several mental diseases, especially melancholia. Psychological pain was both a descriptive and a comprehensive notion. This clinical concept seems to be forgotten in the modern classifications but recent works of epidemiology and brain imaging focus their interest on this topic. Beyond the modernity of the clinical concept of psychological pain, we propose a reflexion, in an epistemological point of view, about the ratio between semiological researches during the xixth century (mostly considered according to the Jean-Pierre Falret's principles) and the modern neurosciences. It appears that these two approaches try to prove the validity of the clinical concepts. Therefore, semiological research and neuroscience are fundamentally different to the modern classifications that tend to describe the mental disorders in searching of statistical consensus (fiability). © 2016 Published by Elsevier Masson SAS.

Hum P.,2nter psychiatrique daccueil et dadmission | Boury D.,Institute Catholique Of Lille | Danel T.,F2RSM federation de recherche regionale en sante mentale du Nord Pas de Calais | Demailly L.,Lille University of Science and Technology | And 9 more authors.
Ethique et Sante | Year: 2015

The act of giving consent plays a primordial role in the delivery of care as perceived from a clinical, legal or ethical standpoint. Recourse to psychiatric care measures the effects even though psychiatry is not the only discipline concerned. Nevertheless, can it be said that the concept of consent truly achieves its supposed ambitions? The notion of refusing care sheds light on these varying problems. Indeed, refusing care is not simply an obstacle to receiving care: what value can be granted to giving consent if it is not possible to negotiate the issue, or if refusing care is not a viable option? This perspective enables giving the precise immanent characteristics for consent. It also highlights certain misrepresentations concerning consent, together with types of almost formal constraint that are seen in cases of false consent, consent given by force, and disagreements that are not expressed directly or misinterpreted. It is through a critical perspective that the weaknesses and limits to the notion of consent will be considered. It is also the reason why we resort to this at the very moment when refusal of care occurs. Maybe this moment should not be considered as negative, and it does help in formulating a limited and pertinent use of the consent. Consenting to care involves a negotiation period that relies on a basis of relational dynamics, with a view to obtaining acceptance for care. © 2014 Elsevier Masson SAS.

Desbeaux A.,Center Hospitalier dArras
Journal of visceral surgery | Year: 2010

Gallstones are commonly observed after rapid weight loss, particularly after bariatric surgery. Preventive measures of gallstone formation and potential related complications are still debated. This study aimed to propose a standardized strategy according to the results of the literature. Thus, preventive measures should be determined according to patient status (evaluated clinically and by routine ultrasound) and the type of bariatric surgery. Cholecystectomy should be performed in patients with symptomatic gallstones irrespective of the planned operation, or for asymptomatic gallstones during a gastric by-pass. In other settings, ursodesoxycholic acid should be given postoperatively for 6 months. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Danjou M.,Center Hospitalier dArras | Guardia D.,Clinique Lautreamont | Geoffroy P.-A.,French Institute of Health and Medical Research | Geoffroy P.-A.,Paris West University Nanterre La Defense | And 5 more authors.
Encephale | Year: 2016

Introduction: The Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is an extremely underrated syndrome beginning around the age of eighteen years. Because of its severity, this diagnosis should be considered when a patient presents an atypical anorexia nervosa. MNGIE disease is inherited in an autosomal recessive manner and related to mutations of the TYMP gene (ch22q13.32-qter), encoding the thymidine phosphorylase. The MNGIE is often misdiagnosed and is associated with a time to diagnostic of about 12 years after first symptoms. Thus this critical review aims to help clinicians better identify symptoms and paraclinical markers of the MNGIE as a differential diagnosis of atypical anorexia nervosa. Methods: A literature search was performed using PubMed and Google Scholar databases. Results: The clinical diagnosis of the MNGIE disease should be based on the association of severe loss of weight and some additional symptoms: (1) severe gastrointestinal dysmotility (nausea, vomiting, intestinal pseudo-obstruction), (2) ptosis or external ophtalmoplegia and (3) peripheral sensorimotor neuropathy. When MNGIE disease is clinically suspected, paraclinical testing can help to validate the MNGIE diagnostic: (1) Arterial blood test reveals lactic acidemia (e.g. an increased serum concentration of lactate without pH modifications), and (2) Brain MRI indicates leukoencephalopathy, usually asymptomatic. Direct evidence of MNGIE disease is based on specific testing of: (1) the thymidine phopshorylase enzyme activity in leukocytes is less than 10% of the control, (2) the increase of plasmatic thymidine (> 3. μmol/L) and the increase of plamatic deoxyuridine (> 5. μmol/L), (3) the evidence of mutations of the TYMP gene by molecular genetic testing. Conclusion: The MNGIE disease is a severe trouble with multisystemic complications. The thymidine phopshorylase enzyme activity in leukocytes should be measured as soon as possible when a patient presents atypical anorexia nervosa. © 2016 L'Encéphale, Paris.

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