[Systemic sclerosis: Efficacy of intravenous immunoglobulins in severe cardiac involvement?] / Sclérodermie systémique : efficacité des immunoglobulines intraveineuses pour l'atteinte cardiaque sévère ?

BACKGROUND: The heart involvement in systemic sclerosis is frequent and can touch various sites. The prognosis in the presence of heart disease is poor, but few data are available about its management. CASE: We report the case of 48 years old woman with systemic sclerosis which presented severe heart involvement. She has severe heart failure, supraventricular arrhythmias and symptomatic pericarditis, which required surgical intervention and immunosuppressive drugs (steroids with rituximab). Despite this treatment, she has persistent severe heart impaired function and intravenous immunoglobulins have been initiated. She experienced progressively the improvement of dyspnea, of heart systolic ejection fraction and decrease of Rodnan scale. CONCLUSION: Our case illustrates a severe heart involvement in systemic sclerosis which have been improved by intravenous immunoglobulins.

[Insulin edema in hepatic glycogenosis]. / Œdème insulinique au cours d'une glycogénose hépatique.

INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed. Too large doses of insulin were responsible of diffuse edema. Diabetes equilibration and diminution of insulin intakes allow correction of this disorder. CONCLUSION: Excess of insulin can lead to excessive hepatic glycogen storage by activation of glycogenosis enzymes. Biological manifestations consist on elevated liver enzymes and hyperlactatemia. There is a link between administration of high dose of insulin and edema. Hepatic glycogenosis should be suspected when diabetes is uncontrolled and be considered as a differential diagnosis of steatosis. It may be associated and revealed by insulin edema directly related to excessive insulin intakes.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. / Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes.

INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed. Diagnosis was made before the age of 10 years in 16 cases. Main symptoms at diagnosis were spleen/liver enlargement and interstitial lung disease. Biological abnormalities included: thrombocytopenia (platelet count <150 000/mm3) in 24 cases including 4 patients with platelet count <60 000/mm3, constantly low high-density lipoprotein (HDL) cholesterol, polyclonal hypergammaglobulinemia (n=6), monoclonal gammopathy of unknown significance (n=5), normal prothrombin level discordant with low factor V (n=5), elevated chitotriosidase level (n=11). The diagnosis was confirmed in all cases by deficient acid sphingomyelinase enzyme activity. SMPD1 gene sequencing was performed in 25 cases. The frequent p.R610del mutation was largely predominant, constituting 62% of the non-related alleles. During the follow-up period, three patients died before 50 years of age from cirrhosis, heart failure and lung insufficiency, respectively. CONCLUSION: ASMD in adulthood (NP-B) associates spleen/liver enlargement and interstitial lung disease. Early diagnosis and appropriate management are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures such as splenectomy. To date, only symptomatic therapy is available. A phase 2/3 therapeutic trial with IV infusion of recombinant enzyme is on-going.

[Paroxysmal finger haematoma (Achenbach syndrome)]. / Hématomes digitaux spontanés paroxystiques (syndrome d'Achenbach).

BACKGROUND: Paroxysmal finger haematoma (also known as "Achenbach syndrome") is a benign condition resulting in the sudden appearance of bruising on one or more fingers, either spontaneously or after minimal trauma, and resolving without treatment. To date, less than 40 cases have been reported. PATIENTS AND METHODS: We report two cases of women aged over 50 years presenting for sudden onset of digital haematomas occurring spontaneously without any prior trauma. Laboratory and radiological tests appeared to be normal for both patients. History-taking and clinical and laboratory data pointed towards a diagnosis of spontaneous paroxysmal finger haematoma. Each episode resolved spontaneously but, as is generally seen, recurrences occurred during follow-up. DISCUSSION: In the absence of known aetiologies and/or treatments for spontaneous paroxysmal finger haematomas, a knowledge of this rare condition can at least help doctors reassure their patients by diagnosing their condition and pointing out the benign nature thereof. It also helps avoid costly and unwarranted additional investigations.

The plasma homocysteine concentrations and prior myocardial infarction.

UNLABELLED: Elevated plasma homocysteine levels are associated with increased risk of vascular disease and with a relationship between homocysteine values and disease severity. Several studies have shown that the high plasma level of homocysteine is an important predictor for risk of cardiovascular events. We analysed the relationship between homocysteine concentrations and other risk factors into CAD progression in patients of prior myocardial infarction. METHODS: We performed a study including 208 patients (100 men and 108 women) divided into two groups: 104 patients with prior myocardial infarction and 104 without coronary artery disease. RESULTS: The patients with prior myocardial infarction had higher mean values of plasma homocysteine than the controls (18.98 +/- 4.72 vs. 14.09 +/- 3.32 micromol/L, p < or = .001). Multivariate analysis after the adjustment for age, gender and cardiovascular risk factors has identified homocysteine over 15 micromol/L as significant and independent cardiovascular risk factors (odds ratio 2.05; 95% CI 1.56-2.54). The correspondent Receiver Operator Curve shape suggested a good reliability in diagnosis of coronary artery disease for homocysteine (under curve area = 0.671, p < or = 001). CONCLUSION: Our results showed a positive correlation between plasma homocysteine levels and severity of coronary lesions (r = 0.765, p < .005). We suggest the use of homocysteine in clinical practice as marker of cardiovascular risk assessment.

[Axillary lymphadenitis due to Corynebacterium pseudotuberculosis in a 63-year-old patient]. / Lymphadénite axillaire à Corynebacterium pseudotuberculosis chez une patiente de 63 ans.

A 63-year-old woman living in a rural area presented in 2004 with a granulomatous necrotizing axillary lymphadenitis caused by Corynebacterium pseudotuberculosis, a Gram positive bacillus belonging to the group of Corynebacterium diphtheriae, which is found primarily in animal infections. In the human being, around 30 cases of infection due to C. pseudotuberculosis have been described, mainly among people working in contact with infected animals. For this reason, this infection, which induces exclusively lymphadenitis and abscesses with granulomatous necrotizing lesions, should be regarded as an occupational disease. In this patient, due to ignorance of the disease, this bacterium was considered to be merely saprophytic. The first treatment introduced was probabilistic antibiotherapy followed by a second course of antibiotics after aspiration. The trend confirmed that this was not the correct treatment and that surgery was the only way to achieve a cure.

Lipoprotein (a) and lipid and non-lipid risk factors in coronaries risk assessment.

PURPOSE: Several studies showed that elevated plasma levels of lipoprotein(a) [Lp(a)] represent a predictor for cardiovascular risk. Based on already existing literature data, we aim to study the relationship between Lp(a), lipids and other cardiovascular risk factors in individuals with or without coronary heart disease. METHODS: We performed a cross-sectional transversal study on 208 patients (100 men and 108 women) aged between 37-75, with or without old myocardial infarction. In all the patients were evaluated the cardiovascular risk factors, the plasma level of the lipid fractions and Lp(a). The relationship between Lp(a) and the lipid and non-lipid risk factors were evaluated by the logistic regression method. RESULTS: The myocardial infarction group had higher values of plasma levels of Lp(a) (0.37 +/- 0.28 vs. 0.29 +/- 0.23 g/L, p < 0.05), and LDL-C (125.66 +/- 41.21 vs. 113.44 +/- 46.64 mg/dL, p < 0.05), than the group without coronary heart disease, as well as higher values of plasmatic TC/HDL-C ratio (4.31 +/- 1.55 vs. 4.08 +/- 1.29, p < 0.05), with significantly decreased plasmatic levels of HDL-C (45.88 +/- 12.04 vs. 53.22 +/- 23.12 mg/dL, p < 0.05). The association between the high Lp(a) plasma levels and the severity of coronary vessels number involved was significant. Multivariate analysis performed with adjustments for cardiovascular risk factors showed that the Lp(a), LDL-C and CT/HDL-C ratio levels are significant and independent predictive markers of coronary heart disease. CONCLUSION: The results show that the high Lp(a) plasma levels represent an independent cardiovascular risk factor, with superior risk prediction than the conventional lipid fractions. Our results confirm the Lp(a) as a marker for cardiovascular risk assessment in clinical practice.

A new prediction score for myocardial infarction: MINF SCORE.

UNLABELLED: The present report aims to generate a simple and efficient non-invasive prediction system of myocardial infarction as well as evaluating of the new generated score. METHODS: 208 patients (both men and women) aged 37-75 admitted at Centre Hospitalier Coulommiers, France, were included in the study. Patients were divided into two groups, according to presence (104 patients, 63.7 +/- 9.2 years) and absence of myocardial infarction (104 patients, 58.1 +/- 12.4 years). RESULTS: Based on univariate and multivariate analyses the following parameters were selected to form the prediction model: age, lipoprotein (a), C-reactive protein, systolic blood pressure, non-HDL-Cholesterol. A new score was obtained and it was validated by the area under the ROC curve of 0.745 +/- 0.034 (95% CI = 0.681-0.804), p < 0.0001. For the newly generated score, at the cut-off point (> -0.3), we obtained the following accuracy parameters: sensibility=80%, specificity=62.5%, positive predictive values=65%, negative predictive values =78%. The mentioned parameters were superior to values of each component of the score individually analyzed. CONCLUSIONS: The newly generated system can become a useful tool in coronary risk evaluation, with direct application in clinical practice.

The correlation between alcohol consumption, lipids, apolipoproteins and coronary heart disease.

UNLABELLED: Moderate alcohol consumption is associated with a lower risk of coronary heart disease. Whether alcohol is truly protective or whether the amount, type, or pattern of intake is the most important is still under debate. The aim of this study was to evaluate the relationship between effect of presence, rhythm, frequency of alcohol consumption on lipid and apo-lipoproteic profile, and indirectly of cardiovascular risk. METHODS: We performed a cross-sectional transversal study on 105 patients free of coronary heart disease (men and women) aged 58.08 (10.43) years. Alcohol and dietary intakes were assessed by using validated questionnaires. The dosages of lipids were measured by the enzymatic method and the dosages of apolipoproteins were measured by immuno-turbidometric methods. RESULTS: Presence of chronic alcohol consumption independently correlated with HDL-Cholesterol (p < 0.5) and apoA-I levels (p < 0.05). Ethylic dose positively associated with HDL-C (r = 0.71, p = 0.003) and apoA-I levels (r = 0.65, p = 0.002). Mean HDL-C levels significantly increase from the <1 drink/day group (46.58 +/- 35.12) to >7 drinks/day group (55.54 +/- 49.12) (p < 0.05). apoA-I also had a higher mean level for the >7 drinks/day group (1.78 +/- 1.21) than the 1-6 drinks/day group (1.58 +/- 0.05) and than the <1 drink/day group (1.53 +/- 0.09). Differences were found to be significant (p < 0.05). CONCLUSION: Alcohol consumption interferes with lipids and lipoproteins balance and is one of the parameters that indirectly decrease the cardiovascular risk. A higher ethylic quantity and rhythm of consumption correlates with a higher protection offered by HDL-Cholesterol and apo A-I.

Risk factors for heart failure in patients with one prior myocardial infarction episode.

BACKGROUND AND AIM: Myocardial infarction is an important risk factor for HF, increasing risk 2- to 3-fold. Other identified classical risk factors for HF include left ventricular hypertrophy, valvular heart disease, hypertension, diabetes mellitus, cigarette smoking, obesity, and dyslipidaemia. New mechanisms, such as insulin resistance, inflammation, and oxidative stress, have been investigated, but the importance of many of these mechanisms is largely unexplored in patients of HF. Our aim was to evaluate the factors involved in heart failure installation in patients with prior myocardial infarction. METHODS: We performed a cross-sectional study including 144 patients presenting old, certified myocardial infarction. Patients were divided into two groups according to presence/absence of heart failure, as certified by New York Heart Association (NYHA) classification of heart and of echocardiography criteria by left ventricular ejection fraction < 40%. Univariate and multivariate models were performed to identify the independent predictors of heart failure. Also, receiver operating characteristic analysis doubled by chi square test for trend was performed to analyze the risk impact of each identified predictor. RESULTS: Univariate between groups comparison was significant for hypertension (p = 0.001), diabetes mellitus (p < 0.001), smoking status (p < 0.001), obesity (p = 0.027), waist circumference (p < 0.001), and levels of C-reactive protein (p < 0.001), total cholesterol (p = 0.008), triglycerides (p = 0.003), HDL-Cholesterol (p < 0.001), glycaemia (p < 0.001) and brain natriuretic peptide (p < 0.001). Multivariate analysis selected C-reactive protein (OR = 2.7, 95% CI = 1.9-4.9, p < 0.001), glycaemia (OR = 2.1, 95% CI = 1.2-4.5, p = 0.027) and HDL-Cholesterol (OR = 0.7, 95% CI = 0.3-0.9, p = 0.035) as independent predictors. Separate across quintile test for trend revealed that the highest risk is added by levels of C-reactive protein levels > = 24mg/dL, followed by glycaemia levels > = 114 mg/dL and HDL-Cholesterol < 32 mg/dL. CONCLUSIONS: Reducing of C-reactive protein and glycaemia levels, as well as increasing the level of HDL-Cholesterol may add a great benefit in reducing heart failure installation risk in patients with myocardial infarction.

[Polymyositis induced by tiopronine]. / Polymyosite induite par la tiopronine.

BACKGROUND: D-penicillamine-induced muscle disorders are well-known, tiopronine-induced disorders are less often reported. CASE REPORT: A 62-year-old patient, given tiopronine for rheumatoid arthritis, developed severe polymyositis with characteristic clinical and pathology features. The course was favorable after tiopronine withdrawal and substitution with methotrexate. DISCUSSION: Clinicians should be aware of the side-effects of tiopronine, particularly muscle disorders, and implement careful surveillance to achieve early diagnosis and appropriate therapy.