Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

INTRODUCTION: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor ß signalling pathway. Due to the recent discovery of the underlying genetic mutations leading to LDS, the spectrum of characteristics and complications is not fully understood. METHODS: Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and google scholar) and included variations of "Loeys-Dietz Syndrome" as search terms, using all available data until February 2021. All study types were included. Three reviewers screened 1394 abstracts, of which 418 underwent full-text review and 392 were included in the final analysis. RESULTS: We identified 3896 reported cases of LDS with the most commonly reported features and complications being: aortic aneurysms and dissections, arterial tortuosity, high arched palate, abnormal uvula and hypertelorism. LDS Types 1 and 2 share many clinical features, LDS Type 2 appears to have a more aggressive aortic disease. LDS Type 3 demonstrated an increased prevalence of mitral valve prolapse and arthritis. LDS Type 4 and 5 demonstrated a lower prevalence of musculoskeletal and cardiovascular involvement. Amongst 222 women who underwent 522 pregnancies, 4% experienced an aortic dissection and the peripartum mortality rate was 1%. CONCLUSION: We observed that LDS is a multisystem connective tissue disorder that is associated with a high burden of complications, requiring a multidisciplinary approach. Ongoing attempts to better characterise these features will allow clinicians to appropriately screen and manage these complications.

Outcomes among critically ill adults with influenza infection.

Background: Influenza infection is a major cause of mortality in critical care units. Methods: ata on critically ill adult patients with influenza infection from 2014 to 2019 were retrospectively collected, including mortality and critical care resource utilization. Independent predictors of mortality were identified using Cox regression. Results: ne hundred thirty patients with confirmed influenza infection had a mean age of 56 (SD 16) years; 72 (55%) were male. Mean Acute Physiology and Chronic Health Evaluation (APACHE II) score was 22 (SD 9). One hundred eight (83%) patients had influenza A (46% H1N1pdm09, 33% H3N2); 21 (16%) had influenza B. Fifty-five (42%) patients had bacterial co-infection. Only 5 (4%) had fungal co-infection. One hundred eight (83%) patients required mechanical ventilation; 94 (72%), vasopressor support; 26 (20%), continuous renal replacement therapy (CRRT); and 11 (9%), extracorporeal membrane oxygenation. One hundred twenty one (93%) patients received antiviral therapy (median 5 d). Thirty-day mortality was 23%. Patients who received antiviral treatment were more likely to survive with an adjusted hazard ratio (aHR) of 0.15 (95% CI 0.04 to 0.51, p = 0.003). Other independent predictors of mortality were the need for CRRT (aHR 2.48, 95% CI 1.14 to 5.43, p = 0.023), higher APACHE II score (aHR 1.08, 95% CI 1.02 to 1.14, p = 0.011), and influenza A (aHR 7.10, 95% CI 1.37 to 36.8, p = 0.020) compared with influenza B infection. Conclusions: mong critically ill influenza patients, antiviral therapy was independently associated with survival. CRRT, higher severity of illness, and influenza A infection were associated with mortality.

Historique: L'infection par l'influenza est une cause majeure de décès en soins intensifs. Méthodologie: Les chercheurs ont procédé à la collecte rétrospective des données sur des patients adultes gravement malades à cause d'une infection par l'influenza entre 2014 et 2019, y compris la mortalité et l'utilisation des ressources en soins intensifs. Ils ont établi les prédicteurs indépendants de mortalité au moyen de la régression de Cox. Résultats: Les 130 patients atteints d'une infection confirmée par l'influenza avaient un âge moyen de 56 ans (±16), et 72 (55 %) étaient de sexe masculin. Le score APACHE II (acronyme anglais d'évaluation de la physiologie aiguë et de la santé chronique) s'élevait à 22 (±9). Au total, 108 patients (83 %) étaient atteints de la grippe de type A (46 % H1N1pdm09, 33 % H3N2) et 21 (16 %), de la grippe de type B. De plus, 55 patients (42 %) étaient atteints d'une co-infection bactérienne, et seulement cinq (4 %), d'une co-infection fongique. Par ailleurs, 108 patients (83 %) ont eu besoin de ventilation mécanique, 94 (72 %), d'un soutien vasopresseur; 26 (20 %), d'une thérapie continue de remplacement rénal (TCRR) et 11 (9 %), d'une oxygénation extracorporelle. Au total, 121 patients (93 %) ont reçu une antivirothérapie (pendant une période médiane de cinq jours). La mortalité au bout de 30 jours s'élevait à 23 %. Les patients qui avaient reçu une antivirothérapie étaient plus susceptibles de survivre, selon un risque relatif ajusté (RRa) de 0,15 (IC à 95 % : 0,04 à 0,51, p = 0,003). Il y avait d'autres prédicteurs indépendants de mortalité : la nécessité de recourir à une TCRR (RRa 2,48, IC à 95 % : 1,14 à 5,43, p = 0,023), un score APACHE II élevé (RRa 1,08, IC à 95 % : 1,02 à 1,14, p = 0,011) et l'infection par l'influenza de type A (RRa 7,10, IC à 95 % : 1,37 à 36,8, p = 0,020) plutôt que par l'influenza de type B. Conclusions: Chez les patients gravement malades atteints de l'influenza, l'antivirothérapie était associée de manière indépendante à la survie. La TCRR, la plus grande gravité de la maladie et l'infection par l'influenza de type A étaient liées à la mortalité.