Influence of age on the clinical and biological characteristics of systemic scleroderma

PURPOSE: The present study was aimed at assessing the influence of age on clinical and biological features of systemic sclerosis. METHODS: This retrospective study included 151 consecutive patients with systemic sclerosis. The median age at diagnosis was 50.0 years (range: 10-84 years). Patients were divided into two groups according to their age (lower than 50.0 years of age: 73 patients, equal to or above 50 years of age: 78 patients). The following features were compared between the two groups: gender, disease duration, extent of skin sclerosis, Crest syndrome, lung fibrosis, secondary Sj?gren's syndrome, antinuclear, anticentromere, and anti-Scl70 antibodies. RESULTS: The disease duration was significantly higher in patients over 50 years of age (7.1 +/- 6.8 years vs 5.5 +/- 5.0 years, P < 0.05). Crest syndrome, secondary Sj?gren's syndrome and anticentromere antibodies were significantly more common in patients over 50 years of age (17/73 vs 30/78, P < 10(-2); 9/73 vs 20/78, P < 10(-2), and 19/73 vs 31/78, P < 0.05; respectively). Anti-Scl70 antibodies were significantly more common in patients under 50 years of age (17/73 vs 10/78, P < 10(-2)). No significant difference was found in regard to the other features. CONCLUSION: The clinical and biological patterns of systemic sclerosis are different according to the age at disease onset. Crest syndrome including anticentromere antibodies and Sj?gren's syndrome is more common in elderly patients, while anti- Scl-70 antibodies are more common in younger patients. This suggests the involvement of various mechanisms in the pathogenesis of systemic sclerosis, and that these mechanisms may depend on the age.     

Proglycogen and macroglycogen: artifacts of glycogen extraction?

Most recent studies on the physiology of proglycogen and macroglycogen in skeletal muscles have adopted a homogenization-free acid extraction protocol to separate these 2 pools of glycogen. The purposes of this study were to determine (a) whether this protocol is suitable; (b) if the acid-insoluble glycogen fraction corresponds to proglycogen; and (c) if this fraction accounts for most of the changes in muscle glycogen content, irrespective of muscle fiber types. Using the rat as our experimental model, this study shows that when the conditions of acid extraction are optimized, 52% to 64% of glycogen in rat muscles is found as acid-soluble glycogen as opposed to approximately 16% when glycogen is extracted using a homogenization-free extraction protocol. Moreover, there is no evidence that the acid-insoluble glycogen corresponds to proglycogen because gel chromatography of the acid-insoluble and acid-soluble glycogen fractions shows similar elution profiles of high-molecular weight glycogen. Finally, irrespective of muscle fiber types, the acid-soluble glycogen accounts for most of the changes in total muscle glycogen levels during the fasting-to-fed transition, whereas the levels of the acid-insoluble glycogen remain stable or increase marginally. In conclusion, this study shows that the homogenization-free acid extraction of muscle glycogen underestimates the proportion of acid-soluble glycogen and that the findings of the studies that have adopted such an extraction protocol to examine the physiology of acid-insoluble and acid-soluble glycogens require reexamination.     

Familial migraine and coronary artery spasm in two siblings

A common pathophysiology for the clinical association of variant angina and migraine has been suggested, but the pathogenesis of both illnesses is yet unknown. Our report presents two siblings with both illnesses and a familial history of migraine where coronary artery spasm was documented, spontaneously in one and after the administration of ergonovine maleate in the other one. Our study strongly supports the hypothesis that genetic factors possibly play a role in the etiology of variant angina and migraine at least in some patients.     

Aortic valve replacement in patients over 80 years of age. Short- and medium-term results in 140 patients

One hundred and forty aortic valve replacements (AVR) performed between 1986 and 1995 at Rouen University Hospital in octogenarians (52 men and 88 women), including 9 emergency procedures, were analysed. One hundred and fifteen patients had pure aortic stenosis, 25 had mixed aortic valve disease with mainly aortic incompetence. The surgical decision was taken by the patient with the surgeon after an interview, in order to exclude too handicapped or undecided patients. Significant coronary artery disease was observed in 42% of cases. Isolated AVR was undertaken in 74% of cases and associated coronary bypass surgery in 23% of cases. Bioprostheses were used in 90% of cases. The valvular lesions were predominantly those of Monckeberg disease. The operative mortality was of 13 patients (9.3%). Functional recovery was satisfactory in 78% of cases; the average duration of the hospital stay was 12 days. All known risk factors for AVR: age, coronary lesions, cardiac failure, low ejection fraction, aortic regurgitation, were associated with insignificant increases in mortality. The secondary mortality was of 28 patients; 99 patients are still alive 4 to 91 months after surgery. The actuarial survival graph showed a 56.5% probability of 5 year survival. Eighty per cent of survivors live at home without loss of autonomy.     

Does continuous positive airway pressure by face mask improve patients with acute cardiogenic pulmonary edema due to left ventricular diastolic dysfunction?

OBJECTIVE: Continuous positive airway pressure (CPAP) by face mask is an effective method of treating severe cardiogenic pulmonary edema (CPE). However, to our knowledge, no study has provided a precise evaluation of the effects of CPAP on cardiac function in patients presenting with CPE and preserved left ventricular (LV) function. DESIGN: Prospective observational clinical study. SETTING: A 14-bed, medical ICU at a university hospital. PATIENTS: Nine consecutive patients presenting with hypoxemic acute CPE. INTERVENTIONS: All patients were selected for 30 min of CPAP with 10 cm H(2)O by mask with fraction of inspired oxygen adjusted for a cutaneous saturation > 90%. Doppler echocardiography was performed before CPAP application and during the last 10 min of breathing with CPAP. Two-tailed, paired t-tests were used to compare data recorded at baseline (oxygen alone) and after CPAP. MEASUREMENTS AND RESULTS: Four patients presented CPE with preserved left ventricular (LV) function (a preserved LV ejection fraction [LVEF] > 45%, and/or aortic velocity time integral > 17 cm in the absence of aortic stenosis or hypertrophic cardiomyopathy). Oxygenation and ventilatory parameters were improved by CPAP in all patients. Hemodynamic monitoring and Doppler echocardiographic analysis demonstrated that in patients with preserved LV systolic function, mean arterial pressure and LV end-diastolic volume were decreased significantly by CPAP (p < 0.04). In patients with LV systolic dysfunction, CPAP improved LVEF (p < 0.05) and decreased LV end-diastolic volume (p = 0.001) significantly. CONCLUSION: CPAP improves oxygenation and ventilatory parameters in all kinds of CPE. In patients with preserved LV contractility, the hemodynamic benefit of CPAP results from a decrease in LV end-diastolic volume (preload).     

Duplex ultrasonography in the diagnosis of deep vein thrombosis of the legs. Agreement between two operators]

The operator-dependent nature of venous Duplex-ultrasonography diagnosis of deep venous thrombosis (DVT) of the leg is the principal reproach applied to it and a reason for delaying use. The aim of the present study was to evaluate concordance between two operators, with rigorous application of the same methodology of exploration of the venous axes. The study included 82 patients under hospital care, randomly selected from among those referred for the first Duplex-ultrasonography examination for DVT, and having accepted to undergo 2 consecutive explorations, one by each of the two operators. The two operators evaluated independently, for the 19 venous axes of the legs: 1: the interpretability of the examination, 2: the differential diagnosis between: absence of thrombus, presence of thrombus, nonconclusive examination, and 3: the score for the DVT extension. Evaluation of concordance of diagnosis was by Cohen's kappa coefficient, calculated on the positive diagnosis of DVT and the site of the most proximal thrombus. Extension scores were compared by calculation of the coefficient of correlation "r". Interpretability rates were 92% and 91% respectively for the two operators, 35 DVT being diagnosed in 27 patients by operator A and 36 DVT in 27 patients by operator B. The kappa coefficient for diagnosis of DVT with localization in the affected leg was 0.90 [0.81-0.98]. It was 0.89 [0.73-1] for proximal lesions, 0.86 [0.74-0.97] for the lower leg level, and 0.79 for localization of the proximal extremity of the thrombus. Extension scores evaluated by the two operators were 2.88 and 3.14 respectively, with a coefficient of correlation between the extension scores of 0.96. The 5 diagnostic divergences concerned the lower leg level; the 2 localization discordances concerned: the frontier zones leg-lower popliteal, lower femoral-upper popliteal. Good concordance between results of the two operators using Duplex-ultrasonography exploration was obtained even though the majority of the DVT were in the calf, a region known to be explored with difficulty. Overcoming the operator-dependent character of Duplex-ultrasonography by a rigorous exploratory methodology could make it the future reference examination for the diagnosis of DVT.     

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1...