[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature]. / Polyglobulie rare par mutation du gène EGLN1 : à propos d'un cas et revue de la littérature.

INTRODUCTION: The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor) pathway. CASE REPORT: We report the case of a 56-year-old patient with unexplained polycythemia associated with normal serum erythropoietin and normal P50, in whom the never previously described mutation c.400C>T(p.Gln134*) on exon 1 in the EGLN1 gene (encoding PHD2) was found. CONCLUSION: In the face of an unexplained polycythemia a good cooperation between clinicians and biologists is necessary to be able to characterize rare hereditary pathologies.

[Diagnostic workup in front of an atypical non hemolytic anemia]. / Démarche diagnostique devant une anémie « non hémolytique ¼ sans étiologie apparente.

The most potential causes of "non hemolytic" anemias are iron, folate or vitamin B12 deficiencies, severe renal impairment, endocrine diseases, inflammation and medullary disorders. In a non-exceptionnal way no cause is found, sometimes because of a wrong interpretation of analysis results and sometimes because of a little known etiology. The goal of this review is to point out analytical difficulties and to remember some rarer etiologies.

IgM peak independently predicts treatment-free survival in chronic lymphocytic leukemia and correlates with accumulation of adverse oncogenetic events.

We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL), including its association with newly reported MYD88, BIRC3, NOTCH1 and SF3B1 mutations. A total of 27, 25, 41 and 57 patients with monoclonal IgM or IgG peaks (IgM and IgG groups), hypogammaglobulinemia (Hypo-γ group) and normal immunoglobulin serum levels (normal-γ group) were, respectively, included. IgM peaks were mainly associated with Binet stage C and the del(17p). Biased usage of IGHV3-48 was shared by both IgM and IgG groups. IGHV3-74 and IGHV4-39 gene rearrangements were specific for IgM and IgG peaks, respectively. SF3B1, NOTCH1, MYD88 and BIRC3 mutation frequencies were 12%, 4%, 2% and 2%, respectively, being over-represented in IgM, IgG and Hypo-γ groups for SF3B1, and being equal between normal-γ and IgM groups for MYD88. Overall, 76%, 87%, 49% and 42% of cases from IgM, IgG, Hypo-γ and normal-γ groups had at least one intermediate or poor prognosis genetic marker, respectively. By multivariate analysis, IgM peaks were associated with shorter treatment-free survival independently from any other univariate poor prognosis biological parameters, including IgG peaks, Hypo-γ, IGHV status, SF3B1 mutations, cytogenetics and lymphocytosis. Therefore, as with IgG peaks, IgM peaks aggravated the natural course of CLL, with increased accumulation of adverse genetic events.

Toxoplasma pericarditis in acquired immunodeficiency syndrome.

Large pericardial effusions are now a well-known complication of the acquired immunodeficiency syndrome, mainly caused by mycobacterial disease. However, other etiologies can be found. We report a case of toxoplasma pericarditis without other parasitic localizations. Pericarditis is a very uncommon clinical feature during toxoplasmosis. Its diagnosis is often difficult to establish, particularly in immunocompromised patients. Nevertheless, its possible evolution to constriction or tamponade requires its consideration. New methods of rapid tissue cultures may be helpful and allow early specific treatment.

[Significance of lymphoplasmocytic infiltration in arrhythmogenic right ventricular dysplasia. Apropos of 3 own cases and review of the literature]. / Signification des infiltrats lymphoplasmocytaires dans la dysplasie ventriculaire droite arythmogène. A propos de 3 cas personnels et d'une revue de la littérature.

Three patients with typical histological signs of arrhythmogenic right ventricular dysplasia progressed to fulminating heart failure in 1 case and unexplained sudden death in the other two. There were signs of superacute myocarditis in the first case, previous healed pericarditis in the second and chronic myocarditis in the third case. These cases suggested the presence of an inflammatory process complicating the substrate of the dysplasia. Arrhythmogenic right ventricular dysplasia seems to be a developmental defect which is complicated in 50 to 70% of patients, according to a review of 74 cases reported in the literature, by a varying degree of myocarditis suggesting particular susceptibility of these patients to infection and explaining the presence of unusual amounts of fibrous tissue in some and the so called "progressive" nature of the disease in other patients.

[Evaluation of outcome of patients hospitalized after pre-hospital cardiac arrest]. / Evaluation des patients hospitalisés au décours d'un arrêt cardiaque extrahospitalier.

The aim of this study was to assess management of patients resuscitated after pre-hospital cardiac arrest, initially indicated to preserve neurological status, the aetiological investigation only being undertaken when the outcome is favourable. Eighty-nine pre-hospital cardiac arrests were analysed retrospectively. The hospital survival was 16%, death being due to neurological lesions (55%), uncontrollable haemodynamic instability -39%) or other causes (7%). One year after the initial episode, none of the survivors had died, all living autonomously without (8 patients) or with minimal neurological sequellae (5 patients). These results are concordant with reports in the literature. The 11 cases of cardiac arrest with a favourable outcome of presumed cardiac origin underwent coronary angiography (6 cases) or endocavitary electrophysiological investigation (8 cases). These investigations showed or suggested an ischaemic process in 4 cases, an arrhythmia in 6 cases and severe valvular heart disease in 1 case. The independent predictive factors of survival were a Glasgow score of 6 or more on admission, the persistence of a light reflex and benign EEG appearances according to Synek's classification. The authors conclude that these results are comparable to those reported in the literature with aetiological investigations reserved for cases of favourable neurological outcome. The investigations including coronary angiography and electrophysiological investigation are essential as shown by the diversity of the cardiac pathologies identified.

[Fatal pneumopathy linked to subcutaneous injections of liquid silicone into soft tissue]. / Pneumopathie mortelle liée à l'injection sous-cutanée de silicone liquide dans les parties molles.

The case of a 23-year old transsexual male who developed a lethal lung disease 48 hr after a 1 l subcutaneous silicone fluid injection is reported. Histologic examination showed optically empty oil red O negative vacuoles in several specimens, and particularly in the lungs; refractile particles of silicium were also found. We identified the material as silicium, and evaluated its quantity in tissues by atomic absorption and spectrometric and toxicological analysis. Experimental studies and rare human accidents suggest that silicone fluid is transported by migrating phagocytes, thereby explaining lymph node, spleen, liver, adrenal and lung deposits. In our patient's report, we added gradual blood contamination to explain the progressive development of respiratory failure with the severity of the respiratory disorder linked to the massive dose injected. Massive silicone blood embolization could be excluded because of the interval between the injection and emergence of the first clinical signs.

[Changes in the electrocardiogram in status asthmaticus]. / Les modifications de l'électrocardiogramme dans l'état de mal asthmatique.

The aim of this study, based on the electrocardiographic analysis of 42 patients in status asthmaticus, is to define the basic criteria which may be used as a basis for electrocardiographic differential diagnosis. The following ECG changes were observed: the pulmonary "p" wave is common, sometimes with exaggerated amplitude in peripheral leads, however, in the precordial leads, the voltage of the "p" wave is reduced; most cases have a vertical heart with clockwise rotation and mild right axis deviation, S1 Q2 Q3 and the transitional zone displaced to the left. Ten cases also had a S1 S2 S3 appearance and three cases showed Q1 Q2 Q3, simulating myocardial infarction; there is poor progression of the R wave in the precordial leads and marked persistence of the S wave in the left precordial leads. In some cases, a QS complex dominates the right precordial leads. A variation in the amplitude of the QRS with the respiratory rhythm is often seen in V1 and V2; ventricular repolarization shows a lowered J point with an upward oblique ST segment in the peripheral leads. However, in the precordial leads, the repolarization is normal except for three cases which presented a frank hypokalaemia. The mechanism of these electrocardiographic changes appears to depend on the vertical position of the heart caused by over expansion of the lungs and pulmonary arterial hypertension. The elements of the electrocardiographic differential diagnosis with myocardial infarction and pulmonary embolism are discussed.

[Long-term survival after extra-hospital cardiac arrest]. / Survie à long terme après arrêt cardiaque extra-hospitalier.

Survival rate after out-of-hospital cardiac arrest varies according to evaluation criteria. It can be estimated that in 22 to 63% of the cases, effective hemodynamic performance is restored although hospital mortality is much higher, reaching 63%. Death, frequent after prolonged cardiac arrest, is usually due to recurrent cardiac arrest or the effects of prolonged anoxia. Mortality in patients who survive the hospitalization period is approximately 20% during the year following discharge. Consequently one year after out-of-hospital cardiac arrest, only 5% of the patients are still alive. The quality of life varies greatly in these survivors; the course of neurological sequellae may be favorable in approximately half but leads to death in others. The primary factor predicting survival is the underlying pathology, highly influenced by age. Inversely, factors predicting a more favorable outcome include ventricular tachycardia as the origin of cardiac arrest, presence of other people at onset and rapid recovery of spontaneous hemodynamic activity. Loss of consciousness for more than 24 hours, defective bulbar reflexes and anomalies on the electroencephalogram are signs of gravity as are high blood glucose, major brain edema and abolition of somesthesic and auditive evoked potentials.

[Use of the helium-oxygen mixture in pneumology practice]. / Utilisation du mélange hélium-oxygène en pratique pneumologique.

Therapeutic use of the helium-oxygen mixture (heliox) was first reported in 1934. Medical use was further restricted to physiological studies. Density and viscosity of Heliox are very different from those of air or oxygen. This can explain how Heliox can induce modifications in the airway flow. In diseases of the main or small airways (upper airway obstruction, chronic obstructive pulmonary disease, asthma), such modifications could induce a diminution in the resistive component of the work of breathing and therefore protect against the risk of developing a respiratory failure. This explains a renewed interest of clinicians for Heliox since the beginning of the eighties. To date, the good tolerance of heliox seems to be well established. Inversely, scientific validation of the therapeutic indications of the mixture in airway diseases are lacking. Moreover, potential therapeutic indications of the mixture are not restricted to airway diseases. Various applications, such as adult respiratory distress syndrome, pneumothorax, fiberoptic bronchoscopy, and mechanical ventilation, are suggested by preliminary reports. Obtaining a synthetic vision of older and more recent studies is the purpose of this review.

[Acute gangrenous acalculous cholecystitis disclosed by postoperative septic shock]. / Cholécystites aiguës gangréneuses alithiasiques révélées par un choc septique postopératoire.

Three cases of acute gangrenous acalculous cholecystitis, revealed by a postoperative septic shock, are reported. Clinical examination was negative and the surgery gave the diagnosis. Infection with biliary stasis and ischaemia accounts for this pathological entity. The very serious prognosis of this condition can only be reversed by cholecystectomy.

[Acute respiratory and circulatory failure. Prognostic value of plasma fibronectin levels]. / Insuffisances respiratoires et circulatoires aiguës. Valeur pronostique du taux de fibronectine plasmatique.

Plasma fibronectin (FNp) concentrations were measured in 63 patients with acute respiratory failure and 28 patients with circulatory failure, using Laurell's electroimmunoassay method. Measurements were made in the acute phase and repeated in the course of the disease. The mean FNp concentration in 20 controls was 262 +/- 59 mg/l. FNp values were normal in the acute phase of chronic obstructive pulmonary disease and in cardiogenic pulmonary oedema. In contrast, they were significantly decreased in adult respiratory distress syndrome and in acute pneumonia, as well as in acute circulatory failure, notably from septic shock. FNp values were also considerably reduced in patients with severe disseminated intravascular coagulation syndrome. Clinical improvement was accompanied by a return to normal of FNp concentrations. The mortality rate was greater in patients with low FNp values than in those with normal values.