Primary lymphedema and HGF mutation: Phenotypic analysis in 11 patients with primary lymphedema associated with HGF mutation and literature review

Laura Mengeot(1), Elodie Fastré(2), Sandrine Mestre(3,4), Nicole Revencu(1), Raphaël Helaers(2), Gabriela M. Repetto(6), Arie van Haeringen(7), Laurence M. Boon(2,8), Isabelle Quere(3,4), Pascal Brouillard(2), Miikka Vikkula(2) Published in the journal : November 2018 Category : Mémoires de Recherche Clinique

Lymphedema is a common disabling condition and the most frequent lymphatic anomaly. It is characterized by chronic tissue swelling mostly located in the limbs. Lymphedema can be primary or secondary (acquired), the primary form resulting from inadequate development or function of the lymphatic system. Currently, germline mutations have been identified in 28 genes. However, these only explain approximately 40% of familial forms and 12% of sporadic forms, thus suggesting that other genes are involved.

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Quality of life of pediatric patients before and after cardiac arrhythmia ablation

Laura Peter(1), Maria Cecilia Gonzalez(2) Published in the journal : November 2018 Category : Mémoires de Recherche Clinique

Cryoablation and radiofrequency catheter ablation have progressively become a standard of care for treating pediatric arrhythmias. While many studies have demonstrated their efficacy in eliminating the arrhythmia substrate, few have evaluated their impact on quality of life, which is the purpose of this study.

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Acute disseminated encephalomyelitis following primary EBV infection in a child

Marie-Laure Oberweis(1), Laurent Houtekie(2), Jacques Louis(3) Published in the journal : November 2018 Category : Neurology

Acute disseminated encephalomyelitis is an inflammatory and demyelinating disease of the central nervous system mainly affecting children. In its classical form, it is characterized by the acute or subacute occurrence of multifocal neurological symptoms and encephalopathy secondary to an infection. Although most children have a good prognosis with slow but complete healing, we here describe the case of a 25-month-old girl with a severe form of acute disseminated encephalomyelitis following a primary Epstein-Barr-Virus infection. Her case is particularly unusual, since it was characterized by a rapid and severe extension of the lesions that led to death.

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Hypereosinophilic syndrome: description of three clinical cases and literature review

Léa Schmitz(1), Christian Michaux(2), Laurent Plawny(3) Published in the journal : November 2018 Category : Hematology/Oncology

Hypereosinophilic syndrome (HES) is characterized by hypereosinophilia associated with subsequent damage of one or more target organs. HES has various causes, that can be divided into primary (clonal involvement of the myeloid lineage), secondary (polyclonal by interleukin-5 production), and idiopathic. Thanks to technological advances, particularly in genetics, six clinical-biological variants could be defined, thus leading to the emergence of targeted therapies. Imatinib, a tyrosine kinase inhibitor, is used in myeloproliferative HES (M-HES), while other variants are treated in first line by corticosteroids. The development of new agents, such as IL-5 inhibitors (mepolizumab), has allowed sparing corticosteroids and thus avoiding their adverse effects, thereby improving the patients’ quality of life.

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Hematologic abnormalities as a manifestation of a defect of intracellular cobalamin metabolism – report of five cases

Elise Osterheld(1), Lutz Bindl(1), Wolfgang Boehm(1), Leon Bofferding(1), Jean Bottu(1), Christine Geron(1), Sandra Heck(1), Charlotte Pierron(1), Moritz Vogel(1), Linda De Meirleir(2), Geert Martens(2), Luc Regal(2), Emmanuel Scalais(1) Published in the journal : November 2018 Category : Hematology/Oncology

Intracellular cobalamin (IC) and its two coenzymes, adenosylcobalamin and methylcobalamin, are necessary for the homeostasis of methylmalonic acid and homocysteine (Hcy). Defects of intracellular cobalamin metabolism are responsible for isolated methylmalonic aciduria (MMA), isolated increased Hcy, or both. MMA occurs when adenosylcobalamin, a cofactor of methylmalonic-CoA mutase, is low, thereby causing elevated MMA and decreased succinyl-CoA. A lack of methylcobalamin, a cofactor for methionine synthase, impairs the transformation of Hcy into methionine, thus leading to increased Hcy and low methionine levels.

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Dr. Bernard Leroy's emeritus status

Caroline Peeters (1), Marine Beeckman (1), Diane Declaye (1), Bertrand Richert (2), Pascal Joly (3), Dominique Tennstedt (1), Marie Baeck (1), Laurine Sacré (1) Published in the journal : November 2018 Category : Dermatology

We report herein on the “PEAU’se dermatologique” meeting of the Cliniques Universitaires Saint-Luc held on October 16, 2017, which was organized in honor of Doctor Bernard Leroy’s emeritus status. Two renowned professors presented topics from Dr. Leroy’s field of expertise. Professor Pascal Joly, head of the Dermatology department at the Hôpital Charles Nicolle, CHU Rouen, casted doubt on five well-established ideas in dermatology: i. efficacy of Dermovate® in lichen sclerosus et atrophicus, ii. necessity to treat actinic keratosis, iii. necessity to treat genital intra-epithelial neoplasia, iiii. surgical treatment of Dubreuilh melanoma, and iiiii. usefulness of melanoma screening. Professor Bertrand Richert, head of the Dermatology department at the CHU Brugmann, presented cases of nail diseases.

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Management of neonates at risk of early-onset sepsis: priority to a clinical strategy

Morgane Hancart(1), Danielle Rousseaux(2), Véronique Thiry(3), Jean-Paul Langhendries(4), Pierre Maton(4) Published in the journal : November 2018 Category : Pediatrics

The screening of early-onset sepsis in asymptomatic neonates at risk of infection is challenging and remains controversial. The objective of this study was to analyze the impact of standardized and optimized clinical surveillance in a targeted population of neonates at risk of infection, based on the updated Belgian recommendations.

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Supervision of clinical reasoning at the bedside: What and how ?

Georges Bordage(1), Diane Clavet(2) Published in the journal : November 2018 Category : Pédagogie médicale

To facilitate the supervision of clinical reasoning at the bedside, we propose five priority items to observe and discuss with students: their very first diagnostic hypotheses, their overall representation of the problem, their search for discriminating clinical findings, their justification for the decisions made, and their uncertainties. Two educational tools are suggested to facilitate the expression of clinical reasoning and to ensure its followup: SNAPPS and the educational prescription.

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Direct Oral Anticoagulants : recommendations for the general practitioner

Cédric Hermans Published in the journal : October 2018 Category : Actualité thérapeutique

Direct oral anticoagulants (DOACs) represent one of the greatest therapeutic innovations of the last decades. Their effectiveness and safety have been clearly demonstrated in a large number of indications. The main precautions for use have been identified. While initially limited to specialists, the prescription of DOACs is now part of the daily practice of many general practitioners. This article reviews, in a concise and practical way, some essential information about DOACs that are useful for any general practitioner.

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Social accountability in health

Ségolène de Rouffignac(1), Nicolas Pierre(2), Kelly Tchomba Djuiko(3), Dominique Pestiaux(4) Published in the journal : October 2018 Category : Société et pédagogie

A jeopardized healthcare system, a generation looking for sense in life and work, a growing gap between the population’s needs and health resources... Social accountability is a concept designed to stimulate reflection and action in favor of a health policy that is more coherent, effective, and equitable. Of course, while this responsibility is primarily in the realm of politicians and health managers, it also concerns universities, health professionals, and communities themselves. The scope of application of this accountability is broad: From ecology to health, it is essential to answer the current problems. By fostering dialogue and partnership among the different actors, the solutions should focus on unity for action rather than fragmentation, guided by values of quality, equity, relevance, and cost-effectiveness. Social accountability invites us to step out of our comfort zone by showing a capacity of reflection, adaptation, and action in order to meet the present society’s needs.

 

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