Melanocytic aggregation in the skin: diagnostic clues from lentigines to melanoma

Pigmented skin lesions are among the most common skin lesions. Among them, melanocytic proliferations are morphologically diverse and their behavior may be difficult to discern with certainty. Researchers must be able to distinguish melanocytic from nonmelanocytic pigmented skin lesions and, in particular, benign from malignant lesions. The majority of these lesions can be diagnosed with ease; however, a minority of cases is difficult and have potential for error. The authors have systematically analyzed the clinical and dermoscopic features of melanocytic skin lesions, so as to increase in vivo diagnostic accuracy.     

eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm

OBJECTIVE: Abdominal aortic aneurysm (AAA) represents a chronic degenerative condition associated with atherosclerosis. Actually, data from experimental and clinical studies suggest that nitric oxide (NO) is a modulator in maintaining endothelial function and antithrombotic intravascular environment. Reduced vascular NO generation in subjects carrying the rare variants of the eNOS gene might predispose to AAA. No information is available about the influence of the eNOS gene T-786C, G894T, and 4a/4b polymorphisms in the susceptibility to the disease. METHODS: In this study, we evaluated the role of these polymorphisms in the predisposition to AAA and their influence in hypertensive and normotensive patients. We studied 250 consecutive patients with AAA referred to the Unit of Vascular Surgery of the University of Florence compared with 250 truly healthy subjects with a negative history of vascular diseases. All subjects, patients, and controls, underwent duplex scanning examination, and to assess the presence of other atherosclerotic localizations, all patients underwent clinical and instrumental examinations. RESULTS: A significant difference in genotype distribution and allele frequency was observed for eNOS G894T but not for T-786C and 4a/4b polymorphisms. At the multivariate analysis after adjustment for traditional vascular risk factors and other atherosclerotic localizations, the eNOS 894T variant was significantly associated with AAA, according to dominant and recessive models (dominant model odds ratio [OR]: 2.2, 95% confidence interval [CI]: 1.21-3.93, P = .007; recessive model OR: 2.7, 95% CI: 1.42-5.20, P = .002). When patients with other atherosclerotic localizations were excluded from the analysis, the 894T variant still remained associated with the predisposition to AAA, according to the models considered (dominant model OR: 2.1, 95%CI: 1.23-3.92, P = .007; recessive model OR: 2.8, 95%CI: 1.45-5.24, P = .002). CONCLUSIONS: The present study showed that the eNOS G894T polymorphism is a mild modulator of the predisposition to AAA apart from traditional risk factors, suggesting a genetic influence on the molecular mechanisms responsible for this complex disease.     

¹²³I]FP-CIT single photon emission computed tomography findings in drug-induced Parkinsonism

This study aims to explore the relationship between clinical symptoms and cognitive functions with different insight dimensions in patients with first-episode schizophrenia. Seventy-nine patients were assessed following six months of treatment. Insight was assessed using the abridged version of Scale of Unawareness of Mental Disorder (SUMD). Symptoms were assessed using Positive and Negative Syndrome Scale (PANSS). Cognitive functions were assessed using the Modified Wisconsin Card Sorting Test (MWCST), semantic verbal fluency and the letter-number sequencing (LNS) test from the Wechsler Adult Intelligence Scale (WAIS). Positive, negative and disorganized symptoms were found to be correlated with overall insight and all three general insight dimensions. Only perseverative errors and categories completed of MWCST were correlated with overall insight. Perseverative errors and non-perseverative errors of MWCST were correlated with the awareness of medication effects; perseverative errors of MWCST were also correlated with the awareness of social consequence of the illness. These support the link between poor insight and impaired executive function particularly measured by MWCST. The specific correlation of cognitive functions and different dimensions of insight suggests different underlying mechanism within each dimension of insight. The combined model of symptomatology and cognitive function explained 20.6% to 36.4% of the variance in the lack of insight within the different dimensions. The modest combined relationship of clinical and cognitive function with insight suggests that the exploration of other models in relationship to different insight dimensions is important.     

Are there adaptive changes in the human brain of patients with Parkinson’s disease treated with long-term deep brain stimulation of the subthalamic nucleus? A 4-year follow-up study with regional cerebral blood flow SPECT

Purpose The aim of this follow-up study was to assess persistent motor and regional cerebral blood flow (rCBF) changes in patients with Parkinson’s disease (PD) treated with high-frequency deep brain stimulation (DBS) of the subthalamic nucleus (STN). Methods Ten PD patients with STN-DBS underwent three rCBF SPECT studies at rest, once preoperatively in the off-drug condition (T₀), and twice postoperatively in the off-drug/off-stimulation conditions at 5 ± 2 (T₁) and 42 ± 7 months (T₂). Patients were assessed using the UPDRS, H&Y and S&E scales. SPM was used to investigate baseline rCBF changes from the preoperative condition to the postoperative conditions and the relationship between rCBF and UPDRS scores used as covariate of interest. Results Parkinsonian patients showed a clinical improvement which was significant only on follow-up at 42 months. The main effect of treatment from T₀ to T₁ was to produce baseline rCBF increases in the pre-supplementary motor area (pre-SMA), premotor cortex and somatosensory association cortex. From T₁ to T₂ a further baseline rCBF increase was detected in the pre-SMA (p < 0.0001). A correlation was detected between the slight improvement in motor scores and the rCBF increase in the pre-SMA (p < 0.0001), which is known to play a crucial role in clinical progression. Conclusion Our study suggests the presence of adaptive functional changes in the human brain of PD patients treated with long-term STN-DBS. Such adaptive processes seem to occur in the pre-SMA and to play only a slightly beneficial role in terms of functional compensation of motor impairment.     

Effect of lesion size on the diagnostic performance of dermoscopy in melanoma detection

BACKGROUND: Dermoscopy is able to correctly classify a higher number of melanomas than naked-eye examination. Little is known however about factors which may influence the diagnostic performance during practice. The aim of the study was to analyze the effect of size of the lesion on diagnostic performance of dermoscopy in melanoma detection. METHODS: Eight dermatologists examined clinical and, separately, clinical and dermoscopic (combined examination) images of 200 melanocytic lesions previously excised [64 melanomas, 24 in situ and 40 invasive (median thickness 0.30 mm) and 136 melanocytic nevi]. After examination, diagnostic performance was analyzed in accordance with the major diameter of the lesions divided into 3 groups, i.e. small (less than 6 mm), intermediate (between 6 and 9 mm) and large (10 mm or more) lesions. These groups were shown to be highly comparable concerning the microstaging of melanomas (median thickness value 0.30, 0.22 and 0.32 mm, respectively). RESULTS: Dermoscopy increased the diagnostic performance of naked-eye examination of both intermediate and large lesions [sensitivity value: +19.3 (p = 0.002) and +10.3 (p = 0.007); diagnostic accuracy value: +7.4 (p = 0.004) and +6.1 (p = 0.07)]. On the contrary, no statistically significant increase was found dealing with small lesions (sensitivity +3.7, p = 0.66; diagnostic accuracy -1.7, p = 0.55). CONCLUSIONS: The diagnostic improvement associated with the addition of dermoscopy to naked-eye examination is influenced by the size of the lesion, i.e. it is lacking with lesions up to 6 mm in diameter. The optimized use of dermoscopy in melanoma detection is obtained dealing with melanocytic lesions 6 mm in diameter or larger.     

Thrombophilic risk factors in patients with severe carotid atherosclerosis.

Carotid stenosis and atrial fibrillation are the strongest risk factors for ischemic stroke. Ongoing prevention efforts include the identification of novel factors that increase the risk for carotid atherosclerosis. The aim of this study was to determine the thrombophilic risk profile of patients with severe carotid stenosis by evaluating a number of genetic and metabolic risk factors [factor (F)II G20210A, factor V Leiden, MTHFR C677T polymorphisms, anticardiolipin antibodies (aCL), lipoprotein(a) (Lp(a)), and homocysteine (Hcy)]. The study population consisted of 615 patients [(410 M/205 F; median age 73 (26-94) years] with severe (> 70%) carotid stenosis, and 615 apparently healthy subjects [(410 M/205 F; age 73 (31-92) years]. On multivariate analysis, independent risk factors were elevated Hcy [odds ratio (OR) 7.6, 95% confidence interval (CI) 4.8, 11.8] and Lp(a) levels (OR 2.9, 95% CI 2.1, 3.9), the presence of aCL (OR 5.7, 95% CI 3.1, 10.4) and heterozygosity for FII G20210A polymorphism (OR 2.8, 95% CI 1.3, 5.9). In the subgroup of women, independent risk factors for severe carotid atherosclerosis were: high levels of Hcy and Lp(a) and the presence of aCL, whereas hyperhomocysteinemia, elevated Lp(a) levels, aCL, FII G20210A and MTHFR 677TT polymorphisms remained independent risk factors in the subgroup of men. The results of the present study demonstrate that the prevalence of the thrombophilic risk factors is increased in patients with severe carotid atherosclerosis.