Ehlers-Danlos Syndrome

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en fr Physiopathologic aspects of the vascular Ehlers–Danlos syndrome Aspects physiopathologiques du syndrome d'Ehlers-Danlos vasculaire

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. systolic flow and artery area or diameter using ultrasounds [18–20] or MRI [17]; and distensibility from artery area and pulse pressure (PP) using echotracking [21,22] or MRI [16,17,23]. However, each technique presents limitations [13,20]. The equipment is expensive and a fairly high level of technical expertise is often required. All of this may hamper the use of local PWV in clinical practice. Ultrafast ultrasound imaging has recently emerged as a unique ultra- high frame rate technique enabling visualization of rapid events. Embedded into a conventional vascular Doppler ultrasound apparatus, ultrafast ultrasound imaging can be easily used to determine, with a good repeatability, the carotid PWV by switching from the B mode to the ultrafast ultrasound imaging mode [24,25]. During the last decade, ultrafast ultrasound imaging was proposed as a new tech- nique to overcome the trade-off between frame rate and the number of scanlines, an important limitation in conven- tional ultrasound imaging. Ultrafast ultrasound imaging uses plane wave transmits with different inclinations [26] and a sampling rate of over 10 000 frames/s, which allows tracking of the pulse wave in real time and thereby measures the PWV [25]. It can measure the velocity of the pulse wave generated not only at the aortic valve opening (early systole) but also at the aortic valve closure (end systole) [24]. These two waves have been well described by Hermeling et al. as a forward compression wave (early systole) and forward expansion wave (end systole) propagating at different velocities [19,22,27,28]. In addition, systolic PWV may be more suited to quantify changes in arterial stiffness with age than diastolic PWV [21]. Therefore, our goal was to use ultrafast ultrasound imaging to study the carotid PWV change over the cardiac cycle, and the impact of modifying factors such as age or a collagen modification. cfPWV was used as an internal reference marker of aortic stiffness [29]. We choose to apply ultrafast ultrasound imaging in a broad-age range healthy popu- lation and on patients affected by the vascular EhlersDanlos syndrome (vEDS). vEDS is a rare vascular disease resulting in mutations in COL3A1, the collagen type III gene. Mainly present in the arterial wall, collagen type III alterations induce crosslinking defects, disorganized fibrills, including collagen type I fibrils, with highly variable diameters, reduce the intima–media thickness, increase carotid wall stress, and expose patients to arterial dissec- tions or rupture [30,31].
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

F. Michael Pope, 27 , 28 Molecular Basis of Periodontal EDS Consortium, Peter H. Byers, 2 , 29 , * and Johannes Zschocke 3 , * Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 in- dividuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition. In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the mapped locus that encode subunits C1r and C1s of the first component of the classical complement pathway. These two proteins form a heterotetramer that then combines with six C1q subunits. Pathogenic variants involve the subunit interfaces or inter-domain hinges of C1r and C1s and are associated with intracellular retention and mild endoplasmic reticulum enlargement. Clinical features of affected individuals in these families include rapidly progressing peri- odontitis with onset in the teens or childhood, a previously unrecognized lack of attached gingiva, pretibial hyperpigmentation, skin and vascular fragility, easy bruising, and variable musculoskeletal symptoms. Our findings open a connection between the inflammatory classical complement pathway and connective tissue homeostasis.
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Ehlers-Danlos syndrome in the University Hospital of Liege

Ehlers-Danlos syndrome in the University Hospital of Liege

Methods We performed a retrospective observational study of the patients from the University Hospital of Liège who had come to a genetic consultation for Ehlers-Danlos syndrome or other collagenopathies between March 2016 (date of creation of the consultation dedicated to EDS) and December 2017. We performed a descriptive statistical analysis of demographic and clinical characteristics including reason for referral, referee, age, gender, Beighton score, Ehlers-Danlos syndrome associated clinical signs, family history, as well as the prescribed complementary tests (heart ultrasound, aortic angio MRI/scan, genetic testing).
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Skin ultrastructural similarities between fibromyalgia and Ehlers-Danlos syndrome hypermobility type

Skin ultrastructural similarities between fibromyalgia and Ehlers-Danlos syndrome hypermobility type

Ehlers-Danlos syndrome (EDS) represents a conglomeration of distinct inherited genetic alterations in the molecular composition of the connective tissue extracellular matrix. Currently, six major types are recognized. Fibrillar collagen types are involved in the majority of EDS cases. The dermis, particularly its reticular layer is conveniently used for typing the molecular and ultrastructural EDS alterations [1]. Fibromyalgia (FM) is commonly evoked by widespread chronic musculoskeletal pain, tenderness and reactive joint, tendon and muscle stiffness, chronic fatigue, sleep disturbances and cognitive symptoms. Widespread pain is present at least for 3 months, on both sides of the body, both above and below the waist. The FM origin remains unknown. The diagnosis is assessed by rating the widespread pain index (WPI) endorsing 19 body regions, and a symptom severity score (SSS) based on the evaluation of fatigue, sleep disturbances and cognitive symptoms [2–5]. The combination with tender point refines the establishment of the FM diagnosis [5]. FM is frequently associated with joint laxity [6–14] representing a major diagnostic criterion of benign joint hypermobility syndrome (JSH) [15] and of the autosomal dominant hypermobility type Ehlers-Danlos syndrome (EDSH) [16– 18]. In addition, several other common signs exist between FM and EDSH, including widespread pain, fatigue, anxiety, and functional gastrointestinal disorders [16]. From that observation, some FM presentations possibly represent an undiagnosed EDSH [19,20]. The genetic mutations are largely undisclosed in EDSH, but ultrastructural dermal abnormalities, although individually unspecific, appear relevant and contribute to the diagnosis drawing-up [1,18,21]. Globally, FM, EDSH and JHS represent three overlapping connective tissue disorders characterized by chronic and recurrent pain, joint instability and minor skin changes. The molecular defects remain unknown.
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Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Frank, M., Albuisson, J., Ranque, B., Golmard, L., Mazzella, J.M., Bal-Theoleyre, L., Fauret, A.L., Mirault, T., Denarie, N., Mousseaux, E., Boutouyrie, P., Fiessinger, J.N., Emmerich, J., Messas, E., Jeunemaitre, X., 2015. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers- Danlos syndrome. Eur. J. Hum. Genet. EJHG. http://dx.doi.org/10.1038/ ejhg.2015.32 .

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en fr Impact of somatosensory impairment on perceptive mechanisms and postural control, a new model : Ehlers-Danlos syndrome hypermobility type Impact d'une déficience somesthésique sur les mécanismes de régulation du contrôle postural : un nouveau modèle, le syndrome d'Ehlers-Danlos de type hypermobile

P REAMBULE Le syndrome d’Ehlers-Danlos (SED) est un groupe mixte de maladies héréditaires dont la caractéristique commune est une altération d’origine génétique du tissu conjonctif. L’altération de ce tissu, omniprésent dans l’organisme (e.g. muscle, tendon, peau), se répercute chez les patients SED par une symptomatologie multisystémique. En conséquence, ce syndrome se subdivise en treize formes majoritairement définies par leurs origines pathogéniques. La forme hypermobile (SEDh ; ou type V ; anciennement type III) constitue l’unique exception, puisque son origine génétique demeure encore inconnue. Néanmoins, le SEDh n’en reste pas moins la forme du SED la plus rencontrée avec une prévalence approximative d’un cas pour 5000 habitants à un pour 20000 habitants, avec une forte prédominance féminine (90% de femmes). En l’absence d’origine génétique établie, son diagnostic se repose uniquement sur la convergence des signes cliniques en présence. Le SEDh se caractérise donc large panel de manifestations multisystémiques, s’articulant autour d’une hypermobilité articulaire généralisée associée à une hyperélasticité cutanée, des douleurs et de la fatigue chroniques. Quelques travaux antérieurs ont également montré au travers de tests perceptifs (i.e. tests de repositionnement après positionnement actif ou passif de l’épaule et du genou, test de pointage de cibles en aveugle), que cette pathologie était associée à des troubles de la proprioception impactant le sens de la position et du mouvement articulaires. Bien que l’origine exacte de ces troubles proprioceptifs demeure encore floue, elle fait toutefois l’objet d’hypothèses fortes en raison de son association récurrente aux troubles de l’hypermobilité articulaire (non SEDh), et systématique avec l’instabilité articulaire (i.e. micro/macro traumas des articulations, fréquemment observés sur les articulations hypermobiles). D’un point de vu neurophysiologique, il est donc probable que l’extension excessive et répétée des ligaments induite par l’hypermobilité articulaire généralisée propre au SEDh, affecte l’intégrité des récepteurs proprioceptifs articulaires (i.e. récepteurs de Pacini et de Ruffini, et organes tendineux de Golgi). De plus, il est également possible que conjointement à l’altération du signal proprioceptif, la modification de l’élasticité cutanée affecte la transmission des pressions provenant des mécanorécepteurs cutanés vers les aires corticales. Plus qu’une altération de la proprioception, les patients atteints du SEDh pourraient donc présenter un déficit somesthésique. Ainsi, les handicaps fonctionnels majeurs dont souffrent ces patients, tels que les chutes ou les maladresses, les enfermant dans une boucle de déconditionnement sensorimotrice qui pourraient résulter de ce déficit.
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Two different missense C1S mutations, associated to periodontal Ehlers-Danlos syndrome, lead to identical molecular outcomes

Two different missense C1S mutations, associated to periodontal Ehlers-Danlos syndrome, lead to identical molecular outcomes

Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like joint hypermobility and skin hyper-extensibility. We previously identified heterozygous missense mutations in the C1R and C1S genes, coding for the complement C1 proteases, in patients affected by periodontal EDS, a specific EDS subtype hallmarked by early severe periodontitis leading to premature loss of teeth and connective tissue alterations. Up to now, there is no clear molecular link relating the nominal role of the C1r and C1s proteases, which is to activate the classical complement pathway, to these heterogeneous symptoms of periodontal EDS syndrome. We aim therefore to elucidate the functional effect of these mutations, at the molecular and enzymatic levels. To explore the molecular consequences, a set of cell transfection experiments, recombinant protein purification, mass spectroscopy and N-terminal analyses have been performed. Focusing on the results obtained on two different C1S variants, namely p.Val316del and p.Cys294Arg, we show that HEK293-F cells stably transfected with the corresponding C1s variant plasmids, unexpectedly, do not secrete the full-length mutated C1s, but only a truncated Fg40 fragment of 40 kDa, produced at very low levels. Detailed analyses of the Fg40 fragments purified for the two C1s variants show that they are identical, which was also unexpected. This suggests that local misfolding of the CCP1 module containing the patient mutation exposes a novel cleavage site, between Lys353 and Cys354, which is not normally accessible. The mutation-induced Fg40 fragment contains the intact C-terminal serine protease domain but not the N-terminal domain mediating C1s interaction with the other C1 subunits, C1r, and C1q. Thus, Fg40 enzymatic activity escapes the normal physiological control of C1s activity within C1, potentially providing a loss-of-control. Comparative enzymatic analyses show that Fg40 retains the native esterolytic activity of C1s, as well as its cleavage efficiency toward the ancillary alarmin HMGB1 substrate, for example, whereas the nominal complement C4 activation cleavage is impaired. These new results open the way to further molecular explorations possibly involving subsidiary C1s targets.
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Syndrome d'Ehlers-Danlos de type hypermobile: une atteinte multisystémique. Apport de l'ultrastructure cutanée pour une prise en charge personnalisée

Syndrome d'Ehlers-Danlos de type hypermobile: une atteinte multisystémique. Apport de l'ultrastructure cutanée pour une prise en charge personnalisée

stRuctuRE to inDiviDual managEmEnt summaRy : Ehlers-Danlos syndrome (EDS) represents a hete- rogeneous group of disorders of the connective tissue struc- ture. Currently, several types are distinguished following a limited set of clinical signs and genetic mutations. However, there is a lack of specificity of most recognized genetic altera- tions with the current clinical typing. In addition, the criteria from dermatopathology, ultrastructure and biomechanics are not considered. In addition, the established EDS frontiers are hazardous because a series of anatomo-clinical signs are not considered in the classical EDS concept. The hypermobile type EDS represents an example of the diagnostic uncertainties. It results that guidelines based on evidence-based medicine cannot be established. Only an individual management can be offered to the concerned patients.
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Le syndrome d’Ehlers-Danlos : l’architecture matricielle en question

Le syndrome d’Ehlers-Danlos : l’architecture matricielle en question

SUMMARY The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question Ehlers-Danlos syndrome (EDS) is a heterogeneous heri- table connective tissue disorder characterized by hyper- extensible skin, hypermobile joints and fragile vessels. The molecular causes of this disorder are often, although not strictly, related to collagens and to the enzymes that process these proteins. The classical form of the syndrome, which will be principally discussed in this review, can be due to mutations on collagen V, a fibrillar collagen present in small amounts in affected tissues. However, collagen I and tenascin have also been demonstrated to be involved in the same type of EDS. Moreover gene disruption of several other matrix mole- cules (thrombospondin, SPARC, small leucine rich pro- teoglycans...) in mice, lead to phenotypes that mimic EDS and these molecules have thus emerged as new players. As collagen V remains the prime candidate, we discuss, based on fundamental and clinical observa- tions, its physiological role. We also explore its potential interactions with other matrix molecules to determine tissue properties. ◊
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Aspects physiopathologiques du syndrome d'Ehlers-Danlos vasculaire

Aspects physiopathologiques du syndrome d'Ehlers-Danlos vasculaire

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. systolic flow and artery area or diameter using ultrasounds [18–20] or MRI [17]; and distensibility from artery area and pulse pressure (PP) using echotracking [21,22] or MRI [16,17,23]. However, each technique presents limitations [13,20]. The equipment is expensive and a fairly high level of technical expertise is often required. All of this may hamper the use of local PWV in clinical practice. Ultrafast ultrasound imaging has recently emerged as a unique ultra- high frame rate technique enabling visualization of rapid events. Embedded into a conventional vascular Doppler ultrasound apparatus, ultrafast ultrasound imaging can be easily used to determine, with a good repeatability, the carotid PWV by switching from the B mode to the ultrafast ultrasound imaging mode [24,25]. During the last decade, ultrafast ultrasound imaging was proposed as a new tech- nique to overcome the trade-off between frame rate and the number of scanlines, an important limitation in conven- tional ultrasound imaging. Ultrafast ultrasound imaging uses plane wave transmits with different inclinations [26] and a sampling rate of over 10 000 frames/s, which allows tracking of the pulse wave in real time and thereby measures the PWV [25]. It can measure the velocity of the pulse wave generated not only at the aortic valve opening (early systole) but also at the aortic valve closure (end systole) [24]. These two waves have been well described by Hermeling et al. as a forward compression wave (early systole) and forward expansion wave (end systole) propagating at different velocities [19,22,27,28]. In addition, systolic PWV may be more suited to quantify changes in arterial stiffness with age than diastolic PWV [21]. Therefore, our goal was to use ultrafast ultrasound imaging to study the carotid PWV change over the cardiac cycle, and the impact of modifying factors such as age or a collagen modification. cfPWV was used as an internal reference marker of aortic stiffness [29]. We choose to apply ultrafast ultrasound imaging in a broad-age range healthy popu- lation and on patients affected by the vascular EhlersDanlos syndrome (vEDS). vEDS is a rare vascular disease resulting in mutations in COL3A1, the collagen type III gene. Mainly present in the arterial wall, collagen type III alterations induce crosslinking defects, disorganized fibrills, including collagen type I fibrils, with highly variable diameters, reduce the intima–media thickness, increase carotid wall stress, and expose patients to arterial dissec- tions or rupture [30,31].
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Cervical artery dissection: An atypical presentation with Ehlers-Danlos-like collagen pathology?

Cervical artery dissection: An atypical presentation with Ehlers-Danlos-like collagen pathology?

Figure. (1) Typical retraction in the deep layers of a skin biopsy in EhlersDanlos syndrome: (a) Masson trichrome coloration disclosing irregu- lar collagen; and (b) orcein coloration showing irregular and dense net of elastic fibers. (2) Abnormal elastic fi- bers. (3) Electron microscopy: (a) with an abnormal collagen fibril (“cauliflower- like”); (b) twisted collagen fibrils with granulofilamentous deposits; and (c) small collagen bundles with irregular interfibrillar spaces. (4) Scanning elec- tron microscopy: loose-packed arrange- ment of the collagen fibrils.
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Syndrome de  LENNOX-GASTAUT

Syndrome de LENNOX-GASTAUT

b- Les absences atypiques : Les absences atypiques sont observées dans la majorité des cas (20- 100% des cas) [3, 17, 20, 33, 34, 41], elles sont également caractéristiques du syndrome, elles sont souvent difficiles à discerner car leur début et leur fin sont progressifs [5, 20, 33], la perte de connaissance est brève et incomplète de telle sorte que la poursuite d’une certaine activité est possible, ce qui rend leur connaissance difficile surtout dans le cas ou le déficit cognitif est profond [5, 33]. Leur durée excède presque toujours dix secondes et se prolonge souvent au delà de vingt secondes (5 à 30s) (5, 20). Elles peuvent s’accompagner d’automatismes oraux, de myoclonies palpébrales et péribuccales, et souvent d’une diminution du tonus musculaire [3, 5, 20, 33]. Enfin, il faut signaler qu’elles ne sont pas favorisées par la stimulation lumineuse intermittente et l’hyperventilation [20, 33].
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Pelvic trauma and pudendal syndrome (post-traumatic pudendal syndrome)

Pelvic trauma and pudendal syndrome (post-traumatic pudendal syndrome)

The pudendal syndrome can result from a pelvic trauma but as it is rarely diagnosed patients facing the syndrome after a work or a motor vehicle accident (MVA) have great difficulties proving the link between the trauma and the se- quelae that may persist sometimes for the rest of their life. In the experience of the first author (JB), a history of pelvic trauma (e.g. fall on the tailbone, traffic accident) with or without fracture was found in 60% of the patients who needed a pudendal nerve decompression surgery re- gardless of the time elapsed between the accident and the appearance of the pudendal syndrome. Amazingly, in the same population, only 5 % of the patients described pelvic trauma as the cause of their symptoms. In a recent study es- tablishing normative values for skin temperature and ther- mal sensory thresholds in the pudendal nerve territory in a population of presumably healthy women, a history of
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.

(TRMA), ~350 in total, will be recruited over 36 months. The study sample will include both adults and children, with no upper or lower age limits for data subjects. The clinician caring for the patient will need to confirm eligi- bility and written informed consent will be obtained prior to registration for all participants. Eligibility is diagnosis driven, with any individual with a clinical diagnosis of WABB or other rarer diabetes syndrome eligible to take part. This eligibility is further widened to include patients who have an identified mutation in a W/A/BB gene(s) but who may not exhibit the described phenotype for the asso- ciated syndrome.
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Le syndrome de Fregoli

Le syndrome de Fregoli

Le syndrome de Fregoli cales du syndrome, qu’ils ont été amenés à l’isoler comme tel. Un autre point mérite d’être brièvement rele- vé, c’est que ce syndrome nous montre l’importan- ce des déterminations logiques et des déterminations de structure en clinique. Je veux dire qu’il n’a pas été découvert n’importe quand, il a été découvert en 1927. En 1923, Joseph Capgras et Jean Reboul-Lachaux avaient isolé un syndrome très curieux, qu’ils ont appelé syndrome d’illusion des sosies. Pour arriver au syndrome d’illusion des sosies, Capgras avait remarqué chez une persécutée délirante un petit quelque chose qui l’avait retenu. Il disait : « Voilà, c’est une persécutée, mégalomane, délire de persécution et de grandeur, tout cela c’est classique, mais il y a quelque chose qui ne colle pas dans ce genre de tableau : c’est que cette femme, à chaque fois qu’on lui présente la même personne, elle dit : “ce n’est pas la même personne, je recon- nais les traits, c’est à peu près le même visage, c’est à peu près la même apparence, mais en réalité, ce n’est pas la même personne c’est un sosie.” » Cap- gras a isolé, dans ce tableau un peu particulier, quelque chose qu’il a dit être un symptôme très par- ticulier, et il a décrit ce symptôme.
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Le syndrome de Brown

Le syndrome de Brown

Il peut observer cette diplopie dans ce regard spontanément s’il ne neutralise pas d’un œil.  Synoptophore Permet d’étudier la vision binoculaire. Il y a 3 mires différentes : -Mire de perception simultanée (PS) : permet de mesurer l’angle de l’hétérophorie ou du strabisme et de voir la correspondance rétinienne. Un patient atteint d’un syndrome de Brown aura généralement des perceptions simultanées à 0° en position primaire. Par contre dans le regard en haut du côté opposé de l’œil atteint, on aura une déviation importante surtout en verticale car l’œil atteint ne s’élève pas en adduction.
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Le syndrome de Barth

Le syndrome de Barth

C’est un article intéressant en ce qu’il s’arrête assez longuement sur la biochimie et la présence d’acides organiques dans les urines. Ce sujet assez pointu est souvent abordé mais très rarement expliqué. Barth et al. expliquent ici en quoi l’acidurie 3-méthylglutaconique est un marqueur de la maladie et pourquoi le syndrome de Barth est considéré comme une acidurie 3-méthylglutaconique type II. Ces explications peuvent rendre l’article légèrement indigeste, mais il est nécessaire de le lire au moins une fois pour justement apprécier la complexité du sujet et les doutes qui subsistent sur le fonctionnement de l’organisme humain. L’article se termine sur une hypothèse : la chaîne respiratoire serait déficiente du fait d’un phospholipide qui compose la membrane des mitochondries, la cardiolipine. Cette hypothèse s’est par la suite avérée et il est fascinant de lire ces articles fondateurs qui ont permis d’avancer sur de multiples sujets.
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Syndrome DRESS à la sulfasalazine.

Syndrome DRESS à la sulfasalazine.

La possibilité d’une hépatite virale ayant été formellement exclue par un second contrôle des sérologies virales, le diagnostic d’un syndrome d’hypersensibilité médicamenteuse (syndrome DRESS) était retenu et la patiente bénéficia d’une corticothérapie intraveineuse à la dose de 80 mg de méthylprednisolone par jour pendant 5 jours. Celle-ci eut un effet immédiat (J10) avec chute de l’hyperthermie et amendement de l’ic- tère qui a disparu en 48 heures. L’éosinophilie, qui avait atteint 2170/mm 3 , s’est immédiatement normalisée ainsi que le reste de l’hémogramme (Fig. 4 a, b, c). Les signes de cytolyse hépatique ont spectaculairement régressé (Fig. 4d) et le rash cutané a disparu en une semaine. La situa- tion clinique s’étant rapidement améliorée, la patiente a pu quitter l’hôpital après 9 jours avec une corticothérapie per os proposée à dose très lentement dégressive.
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Syndrome de Hoffmann aux urgences

Syndrome de Hoffmann aux urgences

Le diagnostic de myopathie sur hypothyroïdie ou syndrome de Hoffmann a donc été retenu. 2. Discussion Aux urgences, le diagnostic de myopathie est pose rapidement sur base des résultats du bilan sanguin où l'on observait une élévation marquée des CPK et des LDH. L'électromyogramme met en évidence un trace caractéristique avec une activité spontanée de repos (fibrillations) et des potentiels d'unités motrices polyphasiques [6].

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Syndrome coronarien aigu.

Syndrome coronarien aigu.

Rev Med Liege 2018; 73 : 5-6 : 243-250 Acute coronary syndrome Summary : Acute coronary syndromes represent a major cause of mortality in our country. There is a very wide spec- trum of clinical presentation since the actual classification of acute coronary syndromes is based on electrocardio- graphic presentation, that is to say based on absence or presence of ST segment elevation. When dealing with an acute chest pain, once the probability of acute coronary syndrome is established, the emergency care must follow the scientific guidelines. One of the critical steps is repre- sented by the evaluation of ischaemic and hemorrhagic risk in order to tailor optimally antithrombotic and anticoa- gulation therapies and revascularization timing. This article summarizes the main points of the emergency care from the diagnosis to risk stratification.
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