LE DEFICIT IMMUNITAIRE COMMUN VARIABLE

Common variable immunodeficiency represent the most frequent hereditary disease of the immune system in adults, but it remains a rare and heterogeneous disease. It's manifested clinically by recurrent bacterial infections and benign lymphoproliferative disorders. Diagnosis is confirmed essentially by hypogammaglobulinemia after eliminating it's main differential diagnosis: Sarcoidosis. Prognosis has improved significantly by antibiotics, immunoglobulin therapy and immunosuppressive agents.Les déficits immunitaires primitifs, représentent un large éventail de maladies héréditaires du système immunitaire, très hétérogènes et souvent méconnus par les cliniciens. Chez l'adulte, le déficit immunitaire commun variable en constitue l'entité la plus fréquente. C'est une défaillance primitive du système immunitaire, dont la physiopathologie reste mal élucidée. Le DICV se manifeste cliniquement par des infections bactériennes à répétition, des manifestations auto-immunes, lympho-prolifératives et biologiquement par une hypogammaglobulinémie qui représente le signe biologique cardinal de la maladie. Son principal diagnostic différentiel est la sarcoïdose. Le pronostic s'est nettement amélioré ces dernières années grâce à une prise en charge précoce, codifiée, axée sur trois volets: la substitution en immunoglobulines, l'antibiothérapie curative et le traitement immunosuppresseur

LES ASPECTS SOMATIQUES DE L’ANOREXIE MENTALE

L’anorexie mentale est une affection psychiatrique en rapport avec un trouble du comportement alimentaire. Il s’agit d’une maladie grave et fréquente qui touche surtout la femme jeune. Non traitée à temps, elle entraîne une dénutrition sévère responsable de troubles somatiques de pronostic péjoratif le plus souvent corrélés à une baisse importance de l’indice de masse corporelle. Ces troubles sont dominés par l’ostéoporose dont le mécanisme est multifactoriel et l’atteinte cardio-vasculaire dont le risque majeur est l’arrêt cardiaque par troubles du rythme. Les autres atteintes sont représentées par les désordres électrolytiques et endocriniens, par la nécrose gélatineuse de la moelle osseuse, la parotidomégalie, l’atteinte des fonctions supérieures et le syndrome de la pince mésentérique. En plus d’une prise en charge psychiatrique, le traitement des troubles somatiques nécessite une conduite pratique bien codifiée afin d’éviter les accidents de la renutrition

LUPUS ERYTHEMATEUX SYSTEMIQUE A DEBUT TARDIF : UN CAS CLINIQUE AVEC REVUE DE LA LITTERATURE

Systemic lupus erythematosus predominantly affects in young woman, is uncommon after the age of 50 years and exceptional after the age of 65 years. A 68 year-old woman case was admitted to be evaluated for hemorrhagic syndrome related thrombocytopenia at 7000/mm3. Bone marrow study showed many megakaryocyte. Antinuclear antibodies test were positive at 1/640, anti-Sm antibodies test were also positive. A transthoracic echocardiogram showed a circumferential pericardial effusion. The patient was diagnosed with SLE with four criteria of ACR. She was treated by bolus therapy with three daily pulses of dose of methylprednisolone at a dose of 1 g/day followed by 1 mg/kg/day prednisolone with a good response.Le lupus érythémateux disséminé est une maladie auto-immune survenant surtout chez la femme jeune. Son début au-delà de 50 ans est rarement rapporté et exceptionnel à partir de 65 ans. Nous rapportons l’observation d’une patiente âgée de 68 ans admise pour un syndrome hémorragique en rapport avec une thrombopénie à 7 000/mm3. Au bilan, la moelle est riche en mégacaryocytes ; les anticorps anti-noyaux sont positifs à 1/640 de même que les anticorps anti-Sm. L’échocardiographie transthoracique objective une péricardite de moyenne abondance. Le diagnostic de lupus est établi selon les critères de l’ACR et la patiente fut mise sous bolus de méthylprednisolone à raison de 1g/j durant 3 jours relayé par 1 mg/kg/j de prednisone associé au traitement adjuvant et aux anti-paludéens de synthèse avec une évolution favorable

QUAND RECHERCHER UNE HYPERTENSION ARTERIELLE PULMONAIRE AU COURS D’UNE MALADIE SYSTEMIQUE

Introduction: Pulmonary hypertension is a rare but well-known life-threatening complication of connective tissue diseases. The aim of this article is to analyse the available literature for diagnosis and treatment about this complication. Method: Scleroderma is the most common connective tissue disease affected by pulmonary hypertension. Dyspnea is the main symptom and is frequently severe. Echocardiography is an excellent exam to detect pulmonary hypertension. However, right heart catheterization is necessary to confirm the diagnosis of pulmonary hypertension and to test vasoreactivity with a potent vasodilator such as nitric oxide. Pulmonary hypertension is less severe in patients with connective tissue diseases perhaps because of an earlier diagnosis. A significantly lower proportion of patients present an acute vasodilator response, suggesting an early constitution of irreversible pulmonary vascular lesions. Continuous intravenous epoprostenol therapy seems to be less effective as compared with patients with primitive pulmonary hypertension and does not improve survival. Bosentan and Sildenafil are approved in idiopathique pulmonary hypertension. The role of immunosuppressive therapy in lupus erythematous has been reported. Conclusion: The WHO recommended annual detection of scleroderma pulmonary hypertension with echocardiography in asymptomatic patients. However, half of patients have dyspnea III or IV NYHA at the diagnosis. The prognostic is more severe than idiopathic pulmonary hypertension.Introduction : L’hypertension artérielle pulmonaire est une complication rare mais bien connue des connectivites. L’objet de cet article est de faire le point sur les méthodes diagnostiques et les nouveautés thérapeutiques Méthodes : La sclérodermie est la première connectivite à se compliquer d’hypertension artérielle pulmonaire. La dyspnée d’effort est le maître symptôme et est souvent d’emblée sévère. L’échocardiographie est un excellent examen de dépistage mais le cathétérisme cardiaque droit demeure l’examen de référence indispensable pour confirmer le diagnostic. Le traitement vasodilatateur par perfusion continue de prostacycline n’améliore pas la survie de ces patients contrairement à ce que l’on observe dans l’hypertension artérielle pulmonaire primitive. Le bosentan et le sildenafil ont approuvé leurs efficacités au cours de l’hypertention artérielle pulmonaires idiopathiques. L’HTAP du lupus érythémateux systémique peut être sensible à l’Endoxan et aux corticoïdes. Conclusion : Les recommandations de l’OMS sont de dépister annuellement l’HTAP chez tout patient atteint de sclérodermie systémique même en l’absence de symptôme clinique par échocardiographie. Malgré ces recommandations, plus de 50 % des patients développant une HTAP sur sclérodermie sont en classe III ou IV NYHA au moment du diagnostic. Le pronostic reste plus sombre que celui de l’HTAP idiopathique

SYNDROME DES ANTISYNTHETASES

Introduction: The discovery in recent years, specific antibodies of idiopathic inflammatory myopathies, has opened new avenues in the understanding of their physiopathological mechanisms.We present the main clinical features and prognosis of syndromes associated with antibodies antisynthetase groupe, emphasizing the anti-Jo1.Method: The antisynthetase syndrome is a subgroup of idiopathic inflammatory myopathies, characterized by interstitial lung disease, arthritis, Raynaud's phenomenon and cutaneous "mechanics hands" associated with a specific antibody family of antisynthetases, anti-Jo1 and pulmonary life-threatening conditions. Treatment is not codified; corticosteroids are most effective on the fickle lung injury by discussing other immunosuppressive treatments.Conclusion: The antisynthetase syndrome is an entity to be known, because of the severity of interstitial lung disease, may occur in the absence of myopathy. Most authors recommend looking for the anti-Jo1 in any idiopathic interstitial pneumonia.Introduction : La découverte ces dernières années, d’anticorps spécifiques des myopathies inflammatoires idiopathiques, a ouvert de nouvelles voies dans la compréhension de leurs mécanismes physiopathogéniques. Nous présentons les principales caractéristiques cliniques et pronostiques des syndromes associés à la famille des anticorps antisynthétases, en insistant sur l’anticorps anti-Jo1.Méthode : Le syndrome des anti-synthétases constitue un sous-groupe de myopathies inflammatoires idiopathiques, caractérisé par une atteinte interstitielle pulmonaire, une polyarthrite, un phénomène de Raynaud et une atteinte cutanée de type « mains de mécaniciens », associés à un anticorps spécifique de la famille des anticorps anti-synthétases, l’anti-Jo1. L’atteinte pulmonaire conditionne le pronostic vital. Le traitement n’est pas codifié ; les corticostéroïdes ont une efficacité inconstante sur les lésions pulmonaires, faisant discuter d’autres traitements immunosuppresseurs.Conclusion : Le syndrome des antisynthétases est une entité à connaître, du faite de la gravité de la pneumopathie interstitielle, pouvant survenir en l’absence d’atteinte musculaire. La plupart des auteurs recommendes la recherche de l’anticorps anti-jo1 lors de toute pneumopathie interstitielle idiopathique

Association between acute respiratory disease events and the MUC5B promoter polymorphism in smokers

A single-nucleotide polymorphism (rs35705950) in the mucin 5B (MUC5B) gene promoter is associated with pulmonary fibrosis and interstitial features on chest CT but may also have beneficial effects. In non-Hispanic whites in the COPDGene cohort with interstitial features (n=454), the MUC5B promoter polymorphism was associated with a 61% lower odds of a prospectively reported acute respiratory disease event (P=0.001), a longer time-to-first event (HR=0.57; P=0.006) and 40% fewer events (P=0.016). The MUC5B promoter polymorphism may have a beneficial effect on the risk of acute respiratory disease events in smokers with interstitial CT features

European survey on criteria of aesthetics for periodontal evaluation: The ESCAPE study

Objective: The ESCAPE multicentre survey was designed to (a) compare the agreement of three relevant aesthetic scoring systems among different centres, and (b) evaluate the reproducibility of each question of the questionnaires. / Materials and Methods: EFP centres (n = 14) were involved in an e‐survey. Forty‐two participants (28 teachers, 14 postgraduate students) were asked to score the one‐year aesthetic outcomes of photographs using the Before–After Scoring System (BASS), the Pink Esthetic Score (PES) and the Root coverage Esthetic Score (RES). Mean values of kappa statistics performed on each question were provided to resume global agreement of each method. / Results: Between teachers, a difference of kappa ≥ 0.41 (p = .01) was found for BASS (75%) and PES (57%). Similarly, RES (84%) and PES (57%) were different (p < .001). No difference was found between BASS (75%) and RES (84%). No difference was found between students, whatever the scoring system. Questions of each scoring system showed differences in their reproducibility. / Conclusions: The outcomes of this study indicate that BASS and RES scoring systems are reproducible tools to evaluate aesthetic after root coverage therapies between different centres. Among the various variables, lack of scar, degree of root coverage, colour match and gingival margin that follows the CEJ show the best reliability

Association Between Interstitial Lung Abnormalities and All-Cause Mortality.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.Interstitial lung abnormalities have been associated with lower 6-minute walk distance, diffusion capacity for carbon monoxide, and total lung capacity. However, to our knowledge, an association with mortality has not been previously investigated.To investigate whether interstitial lung abnormalities are associated with increased mortality.Prospective cohort studies of 2633 participants from the FHS (Framingham Heart Study; computed tomographic [CT] scans obtained September 2008-March 2011), 5320 from the AGES-Reykjavik Study (Age Gene/Environment Susceptibility; recruited January 2002-February 2006), 2068 from the COPDGene Study (Chronic Obstructive Pulmonary Disease; recruited November 2007-April 2010), and 1670 from ECLIPSE (Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints; between December 2005-December 2006).Interstitial lung abnormality status as determined by chest CT evaluation.All-cause mortality over an approximate 3- to 9-year median follow-up time. Cause-of-death information was also examined in the AGES-Reykjavik cohort.Interstitial lung abnormalities were present in 177 (7%) of the 2633 participants from FHS, 378 (7%) of 5320 from AGES-Reykjavik, 156 (8%) of 2068 from COPDGene, and in 157 (9%) of 1670 from ECLIPSE. Over median follow-up times of approximately 3 to 9 years, there were more deaths (and a greater absolute rate of mortality) among participants with interstitial lung abnormalities when compared with those who did not have interstitial lung abnormalities in the following cohorts: 7% vs 1% in FHS (6% difference [95% CI, 2% to 10%]), 56% vs 33% in AGES-Reykjavik (23% difference [95% CI, 18% to 28%]), and 11% vs 5% in ECLIPSE (6% difference [95% CI, 1% to 11%]). After adjustment for covariates, interstitial lung abnormalities were associated with a higher risk of death in the FHS (hazard ratio [HR], 2.7 [95% CI, 1.1 to 6.5]; P = .03), AGES-Reykjavik (HR, 1.3 [95% CI, 1.2 to 1.4]; P < .001), COPDGene (HR, 1.8 [95% CI, 1.1 to 2.8]; P = .01), and ECLIPSE (HR, 1.4 [95% CI, 1.1 to 2.0]; P = .02) cohorts. In the AGES-Reykjavik cohort, the higher rate of mortality could be explained by a higher rate of death due to respiratory disease, specifically pulmonary fibrosis.In 4 separate research cohorts, interstitial lung abnormalities were associated with a greater risk of all-cause mortality. The clinical implications of this association require further investigation.National Institutes of Health (NIH) T32 HL007633 Icelandic Research Fund 141513-051 Landspitali Scientific Fund A-2015-030 National Cancer Institute grant 1K23CA157631 NIH K08 HL097029 R01 HL113264 R21 HL119902 K25 HL104085 R01 HL116931 R01 HL116473 K01 HL118714 R01 HL089897 R01 HL089856 N01-AG-1-2100 HHSN27120120022C P01 HL105339 P01 HL114501 R01 HL107246 R01 HL122464 R01 HL111024 National Heart, Lung, and Blood Institute's Framingham Heart Study contract N01-HC-2519.5 GlaxoSmithKline NCT00292552 5C0104960 National Institute on Aging (NIA) grant 27120120022C NIA Intramural Research Program, Hjartavernd (the Icelandic Heart Association) Althingi (the Icelandic Parliament) NIA 27120120022

Risk Prediction for Acute Kidney Injury in Acute Medical Admissions in the UK

Background Acute Kidney Injury (AKI) is associated with adverse outcomes; identifying patients who are at risk of developing AKI in hospital may lead to targeted prevention. This approach is advocated in national guidelines but is not well studied in acutely unwell medical patients. We therefore aimed to undertake a UK-wide study in acute medical units (AMUs) with the following aims: to define the proportion of acutely unwell medical patients who develop hospital-acquired AKI (hAKI); to determine risk factors associated with the development of hAKI; and to assess the feasibility of using these risk factors to develop an AKI risk prediction score. Methods In September 2016, a prospective multicentre cohort study across 72 UK AMUs was undertaken. Data were collected from all patients who presented over a 24-hour period. Chronic dialysis, community-acquired AKI (cAKI) and those with fewer than two creatinine measurements were subsequently excluded. The primary outcome was the development of h-AKI. Results 2,446 individuals were admitted to the AMUs of the 72 participating centres. 384 patients (16%) sustained AKI of whom 287 (75%) were cAKI and 97 (25%) were hAKI. After exclusions, 1,235 participants remained in whom chronic kidney disease (OR 3.08, 95% CI 1.96-4.83), diuretic prescription (OR 2.33, 95% CI 1.5-3.65), a lower haemoglobin concentration and an elevated serum bilirubin were independently associated with development of hAKI. Multivariable model discrimination was moderate (c-statistic 0.75), and this did not support the development of a robust clinical risk prediction score. Mortality was higher in those with hAKI (adjusted OR 5.22; 95% CI 2.23-12.20). Conclusion AKI in AMUs is common and associated with worse outcomes, with the majority of cases community acquired. The smaller proportion of hAKI cases, only moderate discrimination of prognostic risk factor modelling and the resource implications of widespread application of an AKI clinical risk score across all AMU admissions suggests that this approach is not currently justified. More targeted risk assessment or automated methods of calculating individual risk may be more appropriate alternatives