Anorexia nervosa (AN) is an eating disorder that most frequently afflicts females in adolescence. In these subjects, cardiovascular complications are the main cause of morbidity and mortality. Aim of this review is to analyze the hemodynamic, pro-arrhythmic and structural changes occurring during all phases of this illness, including re-feeding. A systematic literature search was performed on studies in the MEDLINE database, from its inception until September 2017, with PUBMED interface focusing on AN and cardiovascular disease. This review demonstrated that the most common cardiac abnormalities in AN are bradycardia and QT interval prolongation, which may occasionally degenerate into ventricular arrhythmias such as Torsades des Pointes or ventricular fibrillation. As these arrhythmias may be the substrate of sudden cardiac death (SCD), they require cardiac monitoring in hospital. In addition, reduced cardiac mass, with smaller volumes and decreased cardiac output, may be found. Furthermore, mitral prolapse and a mild pericardial effusion may occur, the latter due to protein deficiency and low levels of thyroid hormone. In anorectic patients, some cases of hypercholesterolemia may be present; however, conclusive evidence that AN is an atherogenic condition is still lacking, although a few cases of myocardial infarction have been reported. Finally, refeeding syndrome (RFS), which occurs during the first days of refeeding, may engender a critically increased risk of acute, life-threatening cardiac complications.

Anorexia nervosa and heart disease: a systematic review

Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease.

/pdf/genetic-syndromes-associated-with-congenital-heart-disease-u47126ocfj.pdf

Genetic Syndromes associated with Congenital Heart Disease.

Large granular lymphocyte (LGL) leukemia features a group of indolent lymphoproliferative diseases that display a strong association with various autoimmune conditions. Notwithstanding, these autoimmune conditions have not been comprehensively characterized or systematized to date. As a result, their clinical implications remain largely unknown. The authors offer a comprehensive review of the existing literature on various autoimmune conditions documented in the course of T-cell LGL (T-LGL) leukemia. Though some of them are thought be secondary to the LGL leukemia, others could be primary and might even play a role in its pathogenesis. A considerable clinico-laboratory overlap between T-LGL leukemia associated with rheumatoid arthritis and Felty's syndrome suggests that they are just different eponyms for the same clinical entity.

https://www.clinical-lymphoma-myeloma-leukemia.com/article/S2152-2650(12)00133-4/pdf

Autoimmune manifestations in large granular lymphocyte leukemia.

espanolLas guias de practicas clinica (GPC) son documentos elaborados por instituciones, grupos de expertos o sociedades, dirigidas a profesionales o pacientes con el fin de facilitar la toma de decisiones. El objetivo de este articulo es informar sobre los metodos para su elaboracion y evaluacion, las estrategias para buscarlas y su disponibilidad en la red. Para ello se describen las herramientas que existen, los sitios en los que se encuentran las GPC y los medios mas adecuados para su localizacion EnglishClinical practice guides are documents produced by institucions, groups of experts and societies, wich are addressed to professionals or patients in order to help them make daily clinical decisions. The main objetive of this article is to inform about different methods por their elaboration and assessment, strategies to search for them and their availability on the Internet. With this aim in mind, the existing tools era described together with the websites where GPCs are found and the most appropriate strategies for their location

https://dialnet.unirioja.es/descarga/articulo/2291797.pdf

Guías de práctica clínica

Idiopathic capillary leak syndrome (ICLS) is a rare and poorly known condition. Since the first description in 1960, about hundred cases have been reported. A French register that was initiated in 1997 provides a better knowledge of the natural course of the disease and highlights some therapeutic issues. ICLS mainly affects middle-aged adults. The prognosis is poor with a 10-year mortality rate around 34%. Severe crisis and complications occurring in intensive care units account for 80% of the mortality. Diagnosis relies on an almost pathognomonic association: recurrent attacks of hypotension and hemoconcentration with paradoxical hypoalbuminemia. A monoclonal gammopathy is found in about 80% of patients. Physiopathology still remains unclear. Paraprotein toxicity has never been demonstrated. As a result, no evidence-based treatment is available neither for acute crisis nor for prophylaxis. Management of acute episodes is mainly symptomatic. Fluid infusion must be cautious because it can induce complications during the recovery phase. Patient education is a major measure to prevent recurrent attacks. Beta-2 stimulants were reported to reduce the frequency and severity of episodes and were considered as the recommended prophylactic measure. However, early data from the French register suggest that intravenous immunoglobulins are more effective in reducing both frequency and severity of the attacks. Inclusion of patients with ICLS in a register is crucial to improve the knowledge about aetiology and treatment of this disorder.

Syndrome de fuite capillaire idiopathique

Resume Propos. – Description clinique, biologique et evolutive de patients presentant une splenomegalie dans le cadre d’une sarcoidose systemique. Methode. – Etude retrospective de 17 dossiers de patients presentant une splenomegalie et une sarcoidose prouvee histologiquement. Resultats. – La splenomegalie est de decouverte clinique chez 13 patients, superieure a 4 cm de debord costal chez 11 patients et douloureuse dans cinq cas. Les signes cliniques le plus souvent associes sont une alteration de l’etat general avec un syndrome febrile (n = 9) et une hepatomegalie (n = 7). La radiographie thoracique est normale dans cinq cas et montre des adenopathies mediastinales chez neuf patients. On note frequemment une elevation de l’enzyme de conversion de l’angiotensine (81 %), une thrombopenie (n = 5) ou une pancytopenie (n = 5). Une corticotherapie est prescrite chez 88 % des patients avec une efficacite constante sur les symptomes douloureux, la taille de la rate et les anomalies biologiques associees. La corticotherapie, pas plus que la splenectomie realisee chez deux patients pour exclure un lymphome ne semblent modifier l’evolution au long cours de la maladie. La sarcoidose est le plus souvent multiviscerale et d’evolution chronique dans 82 % des cas. Conclusion. – Une splenomegalie peut s’observer au cours de la sarcoidose et poser des problemes de diagnostic differentiel avec un lymphome. La prise en charge de ces patients est mal codifiee, la corticotherapie est reservee aux formes symptomatiques ou aux splenomegalies massives. La splenomegalie s’integre le plus souvent dans le cadre de sarcoidoses chroniques et multiviscerales.

Les splénomégalies sarcoïdosiques : caractéristiques cliniques et évolutives. À propos de 17 observations

Development of beriberi heart disease 20 years after gastrojejunostomy.

Pustular vasculitis in a patient with T-cell large granular lymphocyte proliferation and myelodysplasia. Successful treatment by ciclosporin.

Resume Propos. – 1) Decrire les causes de symptomatologie musculaire chez des patients ayant eu une biopsie musculaire dans un service de medecine interne non oriente. 2) Preciser la valeur diagnostique des principaux examens paracliniques : electromyogramme (EMG), dosage des enzymes musculaires (CPK) et biopsie musculaire. Methodes. – Etude retrospective portant sur 90 patients ayant eu une biopsie musculaire de juin 1995 a mars 2001. Resultats. – Les diagnostics portes sont par ordre de frequence : maladies inflammatoires (35 cas), pathologies fonctionnelles (24 cas), neuropathies peripheriques (8 cas), pathologies organiques inclassables (7 cas), maladies metaboliques (5 cas), pathologies toxiques (4 cas), pathologies infectieuses (4 cas), amylose (3 cas). Les valeurs diagnostiques de l'EMG, de la CPK et de la biopsie musculaire pour le diagnostic d'organicite sont respectivement : sensibilite : 82, 47 et 29 % ; specificite : 46, 91, 100 % ; valeur predictive positive : 78, 94 et 100 % ; valeur predictive negative : 50, 40 et 36 %. La biopsie musculaire est toujours normale lorsque CPK et EMG sont normaux. Elle permet de poser un diagnostic dans un cas sur trois lorsque CPK et EMG sont divergents. Elle garde des indications lorsque l'EMG est simplement myogene et les CPK normales. Conclusions. – Les diagnostics portes devant une symptomatologie musculaire sont tres varies. Le faible pourcentage de biopsies musculaires diagnostiques impose une approche globale du patient et justifie la forte implication des internistes dans sa prise en charge. Compte tenu de l'importance de la pathologie fonctionnelle, l'intervention precoce d'un psychosomaticien dans la demarche diagnostique devrait etre evaluee afin d'essayer de limiter le nombre de biopsies musculaires non contributives.

Diagnostic des maladies musculaires dans un service de médecine interne

La téléconsultation de l'interniste chez le généraliste: un atout pour la promotion de la médecine clinique et des relations internistes-généralistes

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