Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia.

CONTEXT: Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands. CASE DESCRIPTION: We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Given that endocrine diseases are common causes of secondary arterial hypertension and are often associated with Maffucci syndrome, a comprehensive diagnostic workup was performed, revealing the presence of large bilateral adrenal masses (70 mm right, 35 mm left) and autonomous cortisol secretion (adrenocorticotropic hormone-independent Cushing syndrome). The patient underwent a bilateral adrenalectomy, and steroid replacement therapy was initiated. Surgery resulted in a normalization of arterial blood pressure, and antihypertensive treatment was discontinued. Histological examinations revealed morphological features of primary bilateral macronodular adrenal hyperplasia. CONCLUSIONS: Early recognition and lifelong monitoring of Maffucci syndrome is required to identify and treat possible associated endocrine diseases and malignancies. Among them, unilateral cortical adrenal masses have been previously described, but to our knowledge, this is the first reported case of Maffucci syndrome associated with primary bilateral macronodular adrenal hyperplasia. Additional studies are needed to establish the etiopathological link between these 2 entities and, more in general, between Maffucci syndrome and endocrine diseases, but possible common genetic alterations may be suggested.

Blood Pressure Control in Smokers with Arterial Hypertension Who Switched to Electronic Cigarettes.

Electronic cigarettes (ECs) are battery-operated devices designed to vaporise nicotine, which may help smokers with quitting or reducing their tobacco consumption. No data is available regarding the health effects of ECs use among smokers with arterial hypertension and whether regular use results in blood pressure (BP) changes. We investigated long-term changes in resting BP and level of BP control in hypertensive smokers who quit or reduced substantially their tobacco consumption by switching to ECs. A medical records review of patients with hypertension was conducted to identify patients reporting regular daily use of ECs on at least two consecutive follow-up visits. Regularly smoking hypertensive patients were included as a reference group. A marked reduction in cigarette consumption was observed in ECs users (n = 43) though consumption remained unchanged in the control group (n = 46). Compared to baseline, at 12 months (follow-up visit 2) decline in cigarette consumption was associated with significant reductions in median (25th-, 75th-centile) systolic BP (140 (134.5, 144) to 130 (123.5, 138.5) mmHg; p < 0.001) and diastolic BP (86 (78, 90) to 80 (74.5, 90) mmHg; p = 0.006). No significant changes were observed in the control group. As expected, decline in cigarette consumption in the ECs users was also associated with improved BP control. The study concludes that regular ECs use may aid smokers with arterial hypertension reduce or abstain from cigarette smoking, with only trivial post-cessation weight gain. This resulted in improvements in systolic and diastolic BP as well as better BP control.

Effect of continuous smoking reduction and abstinence on blood pressure and heart rate in smokers switching to electronic cigarettes.

We present prospective blood pressure (BP) and hear rate (HR) changes in smokers invited to switch to e-cigarettes in the ECLAT study. BP and HR changes were compared among (1) different study groups (users of high, low, and zero nicotine products) and (2) pooled continuous smoking phenotype classification (same phenotype from week 12 to -52), with participants classified as quitters (completely quit smoking), reducers (≥50% reduction in smoking consumption) and failures (<50% or no reduction in smoking consumption). Additionally, the latter comparison was repeated in a subgroup of participants with elevated BP at baseline. No significant changes were observed among study groups for systolic BP, diastolic BP, and HR. In 145 subjects with a continuous smoking phenotype, we observed lower systolic BP at week 52 compared to baseline but no effect of smoking phenotype classification. When the same analysis was repeated in 66 subjects with elevated BP at baseline, a substantial reduction in systolic BP was observed at week 52 compared to baseline (132.4 ± 12.0 vs. 141.2 ± 10.5 mmHg, p < 0.001), with a significant effect found for smoking phenotype classification. After adjusting for weight change, gender and age, reduction in systolic BP from baseline at week 52 remains associated significantly with both smoking reduction and smoking abstinence. In conclusion, smokers who reduce or quit smoking by switching to e-cigarettes may lower their systolic BP in the long term, and this reduction is apparent in smokers with elevated BP. The current study adds to the evidence that quitting smoking with the use of e-cigarettes does not lead to higher BP values, and this is independently observed whether e-cigarettes are regularly used or not.

An uncommon cause of syncope.

The authors present a case of a man with recurrent syncopal episodes. The patient had been hospitalized twice before reaching a correct diagnosis. The syncope was originally ascribed to a sick sinus syndrome, which led to pacemaker implantation. Nonetheless, the patient relapsed with no evidence of pacemaker dysfunction, and was readmitted to the hospital where the likely cause for his symptoms was identified: an adenocarcinoma of the lung infiltrating the vagus and recurrent laryngeal nerves. No further syncopal episodes occurred after thoracic surgery. This syncope led to an early diagnosis of lung cancer leading to appropriate and life extending treatment.

Effect of smoking abstinence and reduction in asthmatic smokers switching to electronic cigarettes: evidence for harm reversal.

Electronic cigarettes (e-cigs) are marketed as safer alternatives to tobacco cigarettes and have shown to reduce their consumption. Here we report for the first time the effects of e-cigs on subjective and objective asthma parameters as well as tolerability in asthmatic smokers who quit or reduced their tobacco consumption by switching to these products. We retrospectively reviewed changes in spirometry data, airway hyper-responsiveness (AHR), asthma exacerbations and subjective asthma control in smoking asthmatics who switched to regular e-cig use. Measurements were taken prior to switching (baseline) and at two consecutive visits (Follow-up/1 at 6 (±1) and Follow-up/2 at 12 (±2) months). Eighteen smoking asthmatics (10 single users, eight dual users) were identified. Overall there were significant improvements in spirometry data, asthma control and AHR. These positive outcomes were noted in single and dual users. Reduction in exacerbation rates was reported, but was not significant. No severe adverse events were noted. This small retrospective study indicates that regular use of e-cigs to substitute smoking is associated with objective and subjective improvements in asthma outcomes. Considering that e-cig use is reportedly less harmful than conventional smoking and can lead to reduced cigarette consumption with subsequent improvements in asthma outcomes, this study shows that e-cigs can be a valid option for asthmatic patients who cannot quit smoking by other methods.