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Showing 1 to 12 of 66 entries
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Myocardial involvement in systemic capillary leak syndrome: first demonstration by pathologic findings.

European heart journal. Acute cardiovascular care

Juthier F, Ennezat PV, Fornes P, Hachulla E, Hatron PY, Robin E, Prat A, Bouchindhomme B, Banfi C, Fouquet O, Vincentelli A.
PMID: 24062914
Eur Heart J Acute Cardiovasc Care. 2012 Sep;1(3):248-52. doi: 10.1177/2048872612455142.

This case vignette relates the unknown association between systemic capillary leak syndrome, namely Clarkson's syndrome, and acute cardiac dysfunction. 'Central extra-corporeal life support (ECLS)' was needed for the management of an intractable cardiogenic shock. The acute cardiac condition completely...

Antiphospholipid syndrome: state of the art on clinical practice guidelines.

RMD open

Limper M, Scirè CA, Talarico R, Amoura Z, Avcin T, Basile M, Burmester G, Carli L, Cervera R, Costedoat-Chalumeau N, Doria A, Dörner T, Fonseca JE, Galetti I, Hachulla E, Launay D, Lourenco F, Macieira C, Meroni P, Montecucco CM, Moraes-Fontes MF, Mouthon L, Nalli C, Ramoni V, Tektonidou M, van Laar JM, Bombardieri S, Schneider M, Smith V, Vieira A, Cutolo M, Mosca M, Tincani A.
PMID: 30402272
RMD Open. 2018 Oct 18;4:e000785. doi: 10.1136/rmdopen-2018-000785. eCollection 2018.

Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN...

Sjögren's syndrome: state of the art on clinical practice guidelines.

RMD open

Romão VC, Talarico R, Scirè CA, Vieira A, Alexander T, Baldini C, Gottenberg JE, Gruner H, Hachulla E, Mouthon L, Orlandi M, Pamfil C, Pineton de Chambrun M, Taglietti M, Toplak N, van Daele P, van Laar JM, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, Mariette X.
PMID: 30402274
RMD Open. 2018 Oct 18;4:e000789. doi: 10.1136/rmdopen-2018-000789. eCollection 2018.

Sjögren's syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In...

S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome.

Rheumatology (Oxford, England)

Wang L, Rosé CD, Foley KP, Anton J, Bader-Meunier B, Brissaud P, Chédeville G, Cimaz R, Fernández-Martín J, Guly C, Hachulla E, Harjacek M, Mackensen F, Merino R, Modesto C, Naranjo Hernández A, Pajot C, Ramanan AV, Thatayatikom A, Thomée C, Vastert S, Votta BJ, Bertin J, Wouters CH.
PMID: 29635517
Rheumatology (Oxford). 2018 Jul 01;57(7):1299-1304. doi: 10.1093/rheumatology/key090.

OBJECTIVE: To identify biomarkers of articular and ocular disease activity in patients with Blau syndrome (BS).METHODS: Multiplex plasma protein arrays were performed in five BS patients and eight normal healthy volunteers (NHVs). Plasma S100A12 and S100A8/9 were subsequently measured...

Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.

Journal of clinical medicine

Boursier G, Rittore C, Georgin-Lavialle S, Belot A, Galeotti C, Hachulla E, Hentgen V, Rossi-Semerano L, Sarrabay G, Touitou I.
PMID: 31635385
J Clin Med. 2019 Oct 18;8(10). doi: 10.3390/jcm8101729.

Monogenic autoinflammatory diseases (AIDs) are caused by variants in genes that regulate innate immunity. The current diagnostic performance of targeted next-generation sequencing (NGS) for AIDs is low. We assessed whether pre-analytic advice from expert clinicians could help improve NGS...

Incidental diagnosis of a silent brachiocephalic vein aneurysm and its surgical treatment.

Journal of vascular surgery cases and innovative techniques

Yilmaz N, Pelouze A, Murith N, Hachulla AL, Huber C, Cikirikcioglu M.
PMID: 32055757
J Vasc Surg Cases Innov Tech. 2020 Feb 04;6(1):21-23. doi: 10.1016/j.jvscit.2019.11.010. eCollection 2020 Mar.

Brachiocephalic vein aneurysm is an extremely rare clinical entity, with a limited number of case reports in the literature. We report the case of a 74-year-old woman with a left brachiocephalic vein aneurysm (3 × 3 × 6.5 cm)...

Systemic lupus erythematosus: state of the art on clinical practice guidelines.

RMD open

Tamirou F, Arnaud L, Talarico R, Scirè CA, Alexander T, Amoura Z, Avcin T, Bortoluzzi A, Cervera R, Conti F, Cornet A, Devilliers H, Doria A, Frassi M, Fredi M, Govoni M, Houssiau F, Lladò A, Macieira C, Martin T, Massaro L, Moraes-Fontes MF, Pamfil C, Paolino S, Tani C, Tas SW, Tektonidou M, Tincani A, Van Vollenhoven RF, Bombardieri S, Burmester G, Eurico FJ, Galetti I, Hachulla E, Mueller-Ladner U, Schneider M, Smith V, Cutolo M, Mosca M, Costedoat-Chalumeau N.
PMID: 30564454
RMD Open. 2018 Nov 27;4(2):e000793. doi: 10.1136/rmdopen-2018-000793. eCollection 2018.

Systemic lupus erythematosus (SLE) is the paradigm of systemic autoimmune diseases characterised by a wide spectrum of clinical manifestations with an unpredictable relapsing-remitting course. The aim of the present work was to identify current available clinical practice guidelines (CPGs)...

Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry.

Annals of the rheumatic diseases

Machado PM, Lawson-Tovey S, Strangfeld A, Mateus EF, Hyrich KL, Gossec L, Carmona L, Rodrigues A, Raffeiner B, Duarte C, Hachulla E, Veillard E, Strakova E, Burmester GR, Yardımcı GK, Gomez-Puerta JA, Zepa J, Kearsley-Fleet L, Trefond L, Cunha M, Mosca M, Cornalba M, Soubrier M, Roux N, Brocq O, Durez P, Conway R, Goulenok T, Bijlsma JW, McInnes IB, Mariette X.
PMID: 34972811
Ann Rheum Dis. 2021 Dec 31; doi: 10.1136/annrheumdis-2021-221490. Epub 2021 Dec 31.

OBJECTIVES: To describe the safety of vaccines against SARS-CoV-2 in people with inflammatory/autoimmune rheumatic and musculoskeletal disease (I-RMD).METHODS: Physician-reported registry of I-RMD and non-inflammatory RMD (NI-RMDs) patients vaccinated against SARS-CoV-2. From 5 February 2021 to 27 July 2021, we...

[Impact of disease on daily activities, emotions and quality of life of patients with hereditary angioedema].

La Revue de medecine interne

Nicolas A, Launay D, Duprez C, Citerne I, Morell-Dubois S, Sobanski V, Hachulla É, Staumont-Sallé D, Farhat MM, Sanges S.
PMID: 34158189
Rev Med Interne. 2021 Sep;42(9):608-615. doi: 10.1016/j.revmed.2021.05.013. Epub 2021 Jun 20.

INTRODUCTION: Hereditary angioedema (HAE) is characterized by recurrent attacks of swelling of various locations and severity. An impaired quality of life of patients with HAE has been reported by several studies. We aimed at examining the overall impact of...

Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a two center experience.

Blood advances

Diarra A, Duployez N, Fournier E, Preudhomme C, Coiteux V, Magro L, Quesnel B, Heiblig M, Sujobert P, Barraco F, Balsat M, Scanvion Q, Hachulla E, Launay D, Yakoub-Agha I, Terriou L.
PMID: 34714914
Blood Adv. 2021 Oct 29; doi: 10.1182/bloodadvances.2021004749. Epub 2021 Oct 29.

The recently described VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by somatic mutations in UBA1. Patients with VEXAS display late-onset autoinflammatory symptoms, usually refractory to treatment, and hematologic abnormalities. The identification of an easily-accessible specific marker...

Impact of Three Different Algorithms for the Screening of SSc-PAH and Comparison with the Decisions of a Multidisciplinary Team.

Diagnostics (Basel, Switzerland)

Coirier V, Chabanne C, Jouneau S, Belhomme N, Ballerie A, Cazalets C, Sobanski V, Hachulla É, Jégo P, Lescoat A.
PMID: 34679436
Diagnostics (Basel). 2021 Sep 22;11(10). doi: 10.3390/diagnostics11101738.

BACKGROUND: to compare three existing screening algorithms of pulmonary arterial hypertension (PAH) in systemic sclerosis (SSc) with the results of a multidisciplinary team (MDT) meeting from a tertiary center.METHODS: we conducted a monocentric longitudinal study from 2015 to 2018....

"Double-Parachute" Mitral Valve.

JACC. Case reports

Minetto D, Blanche C, Hachulla AL, Sologashvili T, Meyer P.
PMID: 34317218
JACC Case Rep. 2020 Jan 08;2(2):261-265. doi: 10.1016/j.jaccas.2019.11.032. eCollection 2020 Feb.

A 38-year-old asymptomatic man was referred by his general practitioner for a 3/6 systolic heart murmur, which was detected during a routine consultation. Echocardiography revealed a parachute mitral valve associated with a parachute-like membrane, causing significant subaortic obstruction that...

Showing 1 to 12 of 66 entries