Notre ennemi : le caillot. Thrombose coronaire : stratégie et arsenal thérapeutique

Intra coronary thrombus is  frequently encountered during acute coronary syndromes revascularisation procedures. It can also be encountered during angioplasty procedures in a stable angina context, although at a much lesser frequency.In both situations, it harbors a risk of poor angiographic result and poor prognosis. Intracoronnary thrombus may cause coronary occlusion at the angioplasty site or distal embolic  flow obstruction. Per procedure thrombus prevention rests on an prior optimal anti thrombotic treatment and in some circumstances the choice to defer the revascularisation procedure in the complex high risk setting. Treating the initiated thrombus remains controversial concerning thrombectomy and GPIIBIIIa inhibitors which are still in use in common practice. No reflow phenomenon is a particularly complex setting during cornary angioplasties, partially but not solely related to a thrombotic complication. It's treatment remains unclear in the absence of related oriented studies.The current mechanical and pharmacological antithrombotic therapies must remain common practice and used appropriately as of the clinical and angiographic setting, until further scientific outbrakes.     

Molecular Analysis of β-Thalassemia Patients: First Identification of Mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil

The various clinical phenotypes in β-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with β-thalassemia (β-thal) in order to identify some genetic modifying factors: β-thalassemia mutations, HBG2:g.–158C>T polymorphism, α-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). In the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. The other genetic factors analyzed showed no relation with the severity of the disease. For the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the β-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in β-thalassemic individuals in the Brazilian population.     

Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil

The various clinical phenotypes in β-thalassemias have stimulated the study of genetic factors that could modify the manifestations of these diseases. We examined 21 patients with β-thalassemia (β-thal) in order to identify some genetic modifying factors: β-thalassemia mutations, HBG2:g.-158C>T polymorphism, α-globin gene deletions and (AT)xNz(AT)y motif within the hypersensitive site 2-locus control region (HS2-LCR). In the 42 alleles analyzed, the most frequent mutations observed were HBB:c.92+6T>C (30.9%), HBB:c.118C>T (16.7%), HBB:c.93-21G>A (11.9%) and HBB:c.92+1G>A (4.8%); this finding is in accordance with previous data of the Brazilian population. The other genetic factors analyzed showed no relation with the severity of the disease. For the first time in Brazil, we report HBB:c.93-2A>G and HBB:c.114G>A mutations on the β-globin gene, both in a heterozygous state. This is also the first study to analyze the HS2-LCR in β-thalassemic individuals in the Brazilian population.     

Ostium coronaire unique : artère coronaire unique ou artère coronaire ectopique connectée à l’artère controlatérale. Comment et pourquoi les différencier ?

Among the wide spectrum of congenital abnormalities of coronary arteries, a single coronary artery is often confused with an ectopic coronary artery connected with the contralateral coronary artery. Both abnormalities are characterized by a single coronary ostium, but they differ by the lack or not of an initial ectopic course. The prognosis of anomalous connections of coronary arteries depends mainly on the type of the initial course in relation to other cardiac structures. Therefore, the distinction between a single coronary artery and an ectopic coronary artery connected with the contralateral artery is of importance.     

Corticoïdes et corticothérapies : quelle est l’information recherchée par les patients ? Analyse des visites du site Internet cortisone-info.fr

Introduction

About 1% of the general population are receiving systemic glucocorticoids. The information about this treatment sought by patients is unknown.

Materials and methods

The website www.cortisone-info.fr aims to provide therapeutic information about glucocorticoids and glucocorticoid therapy. It was posted on January 16, 2012. The information available on the website is documented and based on the recent medical literature. The website is made of 43 pages divided into five main sections (generalities about glucocorticoids, adverse events, measures associated with glucocorticoid therapy, discontinuation of glucocorticoids and, situations requiring attention). The website traffic between February 1st, 2012 and January 4, 2013 was analyzed using Google Analytics.

Results

During the study period, the website was visited by 67,496 people (average number of visitors per day: 33 in February 2012, 326 in December 2012). The number of page views was 230,496 or an average of 3.5 pages per visitor. Of these 230,496 page views, 145,431 (63.1%) were related to adverse events and 37,722 (16.4%) were related to generalities about glucocorticoids (e.g., what is cortisone? For which disease? How does it work?). Information particularly sought by visitors was related to the diet to follow during glucocorticoid therapy (page accessed 11,946 times), data about what cortisone is (page accessed 11,829 times) and the effects of glucocorticoids on weight (page accessed 10,442 times).

Conclusion

Knowledge of glucocorticoid-treated patients’ expectations may help physicians to optimize information they give, thereby helping to reduce patients’ concerns about glucocorticoids and to improve adherence to the treatment.     

Quoi de neuf en allergologie pédiatrique en 2005 ? Partie 2. Allergie respiratoire : épidémiologie (une revue de la littérature internationale d'octobre 2004 à octobre 2005)

Risk factors for asthma are genetic factors, parental history of atopy and asthma, conditions of pregnancy and delivery, maternal smoking and frequent use of paracetamol during pregnancy, personal history of atopy and infectious diseases of the respiratory tract, and in utero exposure to high levels of domestic pollutants. Farm children are less prone to develop asthma, except for children exposed to pigs during the first years of life. The impact of allergen exposure on asthma risk depends on allergens. As far as cat allergens are in concern, the risk of asthma is increased in children exposed to low to moderate levels, but decreased in heavily exposed children. However, this effect is highly variable from one child to another one. Allergic rhinitis is underdiagnosed and undertreated in asthmatic children, and increases the risk and the severity of asthma. Risks of asthma persistence and relapse are influenced by the timing, severity and persistence of early wheezing. A large number of young adults are in clinical remission but have persistent abnormalities of their respiratory functions, suggesting that these patients are at risk of subsequent relapse. Finally, several studies suggest the end of the asthma "epidemics" in most European countries. However, other studies show that, although declining in adolescents, the incidence of asthma is still increasing in young children.     

Choc cardiogénique ischémique. Où en est-on en 2012 ?

With a stable frequency (about 5% of acute coronary syndromes) and a mortality of nearly 45%, cardiogenic shock (CS), especially when it occurs in the immediate waning of myocardial infarction, still represents a therapeutic challenge. In this review, will be detailed the actual epidemiologic data of CS, its physiopathology and the different modalities of treatments available to the interventional cardiologist, especially the coronary revascularisation and the percutaneous left ventricular assistance, whether by intra-aortic balloon counterpulsation or by more complex systems.     

Aféresis en enfermedad inflamatoria intestinal. ¿Una opción válida?

Leukocyte apheresis works by purifying distinct populations of active leukocytes and by modifying inflammatory mediators. Based on their theoretical immunomodulatory effect, these techniques have begun to be used in inflammatory bowel disease. There are two types of devices: granulocytapheresis, which performs selective granulocyte and monocyte absorption, and leukocytapheresis, which carries out non-selective filtration. Conventional treatment regimens consist of between 5 and 10 sessions, normally one session per week, to induce remission. Although the indications for apheresis have not been clearly defined, this technique can be considered a valid option in selected patients with ulcerative colitis, mainly those with corticosteroid-dependent or corticosteroid-refractory disease when other, better-established immunosuppressive or biological treatments have failed. In addition to avoiding the use of corticosteroids, due to its excellent safety profile, apheresis is an attractive option to avoid the risks of immunosuppressive and biological treatments and for use in the pediatric population. The present reviews analyzes the data on the safety and efficacy of apheresis in those patients with inflammatory bowel diseases who could benefit from this technique.     

A novel fibrinogen mutation: <Emphasis Type="Italic">FGA</Emphasis> g. 3057 C &gt; T (p. Arg104 &gt; Cys) impairs fibrinogen secretion

Background

Abnormal fibrinogens can be caused by clinically silent hereditary mutations. A new case was detected accidentally in an 11-year-old girl when routine pre-operative coagulation tests were performed for nasal turbinate surgery.

Methods

The fibrinogen genes FGA, FGG and FGB were sequenced using standard protocols. The kinetics of fibrin formation were followed by turbidity at 350 nm. Purified fibrinogen was incubated with plasmin, and the degradation products analyzed by SDS/PAGE. The formation of fibrinogen-albumin complexes was analyzed by immunobloting. Fibrin structure was examined in a Nikon Eclipse TE 2000-U laser microscope. Secretion of the variant protein was analyzed directly by reverse phase-electrospray time of flight-mass spectrometry (TOF-MS).

Results

DNA sequencing revealed a novel heterozygous g. 3057 C > T mutation in the FGA that predicts a p. Arg104 > Cys substitution, in the proband and her father. Both patients were asymptomatic with low functional and antigen fibrinogen concentrations. The proband’s plasma fibrinogen polymerization was almost normal, with a 12% decrease in the final turbidity, while, the father’s fibrin formation had a diminished slope and final turbidity (2.5× and 40%, respectively). Aα Arg104 is located at a plasmin cleavage site in the coiled-coil region of fibrinogen. However, the father’s fibrinogen plasmin degradation was normal. Although the exchanged Cys introduces an unpaired –SH, immunoblotting showed no fibrinogen-albumin complexes. Furthermore, the plasma clot structure observed by confocal microscopy appeared almost normal. TOF-MS showed that the variant Aα chain was underrepresented in plasma and made up only about 25% of the total.

Conclusions

The low expression of the Aα Arg104 > Cys chain in circulation could account for the observed hypodysfibrinogenemia.

     

Homozygosity for HBA1: c.179G > A: Hb Adana in an Infant

Hb Adana (HBA1: c.179G?>?A) is a very rare, unstable form of α-globin variant that results from deficient synthesis of functional α chains. We present a 2-month-old boy with hypochromic microcytic anemia, and remarkable anisocytosis, target cells and basophilic stippling on his peripheral blood smear. α-Globin gene analysis of the patient determined homozygosity for HBA1: c.179G?>?A, a mutation known as Hb Adana. On his follow-up visit, hemoglobin (Hb) levels were stable at 9.0–9.5?g/dL and mean corpuscular volume (MCV) was 62.2–62.5?fL without the need for a blood transfusion. Clinical and hematological findings of our case were comparable to Hb H (β4) or β-thalassemia intermedia (β-TI)-like phenotypes, despite the fact that he carried an α1 gene mutation. Heterozygosity for the HBA1: c.179G?>?A mutation may also lead to microcytosis only as seen in his parents. According to our current knowledge, this is the first described case with homozygosity for the Hb Adana mutation, carried on the α1 gene. The relatively mild presentation of the case highlights the milder phenotypic consequences of nondeletional α mutations in the α1 vs. the α2 gene.