Evaluation of autonomic imbalance in patients with heart failure: A preliminary study of pupillomotor function

Background: Purpose of this study was to examine pupil size changes and mobility in normal subjects and in heart failure (HF) patients. Methods: Sixteen stable patients with New York Heart Association (NYHA) class II or III heart failure and sixteen control subjects were studied. Pupillary reaction to light was recorded and nine parameters from this data were measured, reported and then compared in both groups of subjects. Results: Patients with HF had abnormal pupillary function compared with normal subjects. Pupillary light reflex variables differed significantly between two groups (p < 0.05) except baseline radius (R1), minimum radius (R2) and time for maximum constriction (T3). A significant decrease in maximum constriction velocity (VCmax; p < 0.001) and maximum constriction acceleration (ACmax; p < 0.001) was observed in HF subjects. Furthermore, significantly higher values in percentage recovery-redilatation (%R; p < 0.001), percentage R2/R1 (%R2/R1; p < 0.05), latency (T1; p < 0.05) and time for maximum velocity (T2; p < 0.05) were found in the same group. Conclusions: Of the parameters studied, R1 and %R are governed mainly by the action of the sympathetic nervous system, through norepinephrine. The rest are governed mainly by parasympathetic nervous system, through acetylcholine. The results of our study demonstrate generalized adrenergic activation and parasympathetic withdrawal, which are present in HF. (Cardiol J 2010; 17, 1: 65-72

Comparative Study and Application of the EFA-4 Diagnostic Tool to Alzheimer’s Disease and Mild Cognitive Impairment

Speech is a cortical function that includes virtual, mobile and sensory part for the understanding and the expression of spoken and written word. This study shows the Greek adaptation of the diagnostic tool «Examining for aphasia» or EFA -4. In dementia and especially in Alzheimer’s disease–AD, the speech disorders are among the main diagnostic feature, along with the impairment of memory. How, however, will we recognize Dementia and separate it from the early stage of Mild Cognitive Impairment- MCI according to speech disorders?The diagnostic tool EFA-4 is a regulatory, reliable and valid measure of the speech disorders. The test was administered to 50 normal elders, 50 patients with AD and 31 patients with MCI. The sample selection, although it had a uniform age, was regardless of origin, marital status and socioeconomic status. According to the results of the research, the EFA-4 is perceived to be particularly useful in the setting of language deficits of the patients with AD, who participated in the survey.Specifically, the cut offs showed that the average of the EFA-4 for the normal range ranged from 74,5 – 74,8. Moreover the cut offs showed that the average of EFA-4 for patients with AD ranges from 36.8-46.1 and for patients with MCI ranges from 62.2 - 66.7

Simultaneous occurrence of cerebellar medulloblastoma and pituitary adenoma: A case report

This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease

Is there any potential link among caspase-8, p-p38 MAPK and bcl-2 in clear cell renal cell carcinomas? A comparative immunohistochemical analysis with clinical connotations

10.1186/1746-1596-4-7Diagnostic Pathology41

Is there any potential link among caspase-8, p-p38 MAPK and bcl-2 in clear cell renal cell carcinomas? A comparative immunohistochemical analysis with clinical connotations

Abstract Background Clear cell renal cell carcinomas (ccRCCs) constitute the most common renal carcinomas, characterized by a relatively aggressive clinical course. Thus, scientific research is targeting towards the identification of immunohistochemical and molecular markers that could be useful regarding diagnosis, appropriate therapy and prediction of prognosis. In the present study we assessed and correlated the expression of caspase-8, phosphorylated p38 mitogen-activated protein kinase (p-p38) and bcl-2 protein with histopathological features and clinical outcome of 27 patients with ccRCCs. Method Immunohistochemistry in formalin-fixed and paraffin-embedded tissue sections was performed. The associations among various features were assessed utilizing statistical analysis. Results We found that increased expression of cytoplasmic caspase-8 and bcl-2 protein was strongly associated with low Fuhrman's grade of carcinomas (p = 0.019 and p = 0.041, respectively). On the other hand, increased p-p38 expression was significantly related to high Fuhrman's grade (p = 0.006). Moreover, high bcl-2 expression was correlated with low pathological stage of ccRCCs (p = 0.026). Increased expression of cytoplasmic caspase-8 as well as low-grade tumors (grade 1 and 2) implied a greater probability of patients' survival, in univariate statistical analysis (p = 0.037 and p = 0.019, respectively). Neither p-p38 nor bcl-2 expression was significantly linked to patients' survival. There were not emerged statistically significant associations among caspase-8, p-p38 kinase and bcl-2 protein. Conclusion For the first time the prognostic impact of caspase-8 and p-p38 was studied in a series of ccRCCs, using immunohistochemistry in formalin-fixed and paraffin-embedded tissue sections. The suggestive relationship of caspase-8 with patients' clinical outcome, as well as the role of p-p38 within different grade categories, mandates further studies in larger cohorts of RCCs.</p

Is there any potential link among caspase-8, p-p38 MAPK and bcl-2 in clear cell renal cell carcinomas? A comparative immunohistochemical analysis with clinical connotations

Background: Clear cell renal cell carcinomas (ccRCCs) constitute the most common renal carcinomas, characterized by a relatively aggressive clinical course. Thus, scientific research is targeting towards the identification of immunohistochemical and molecular markers that could be useful regarding diagnosis, appropriate therapy and prediction of prognosis. In the present study we assessed and correlated the expression of caspase-8, phosphorylated p38 mitogen-activated protein kinase (p-p38) and bcl-2 protein with histopathological features and clinical outcome of 27 patients with ccRCCs. Method: Immunohistochemistry in formalin-fixed and paraffin-embedded tissue sections was performed. The associations among various features were assessed utilizing statistical analysis. Results: We found that increased expression of cytoplasmic caspase-8 and bcl-2 protein was strongly associated with low Fuhrman’s grade of carcinomas (p = 0.019 and p = 0.041, respectively). On the other hand, increased p-p38 expression was significantly related to high Fuhrman’s grade (p = 0.006). Moreover, high bcl-2 expression was correlated with low pathological stage of ccRCCs (p = 0.026). Increased expression of cytoplasmic caspase-8 as well as low-grade tumors (grade 1 and 2) implied a greater probability of patients’ survival, in univariate statistical analysis (p = 0.037 and p = 0.019, respectively). Neither p-p38 nor bcl-2 expression was significantly linked to patients’ survival. There were not emerged statistically significant associations among caspase-8, p-p38 kinase and bcl-2 protein. Conclusion: For the first time the prognostic impact of caspase-8 and p-p38 was studied in a series of ccRCCs, using immunohistochemistry in formalin-fixed and paraffin-embedded tissue sections. The suggestive relationship of caspase-8 with patients’ clinical outcome, as well as the role of p-p38 within different grade categories, mandates further studies in larger cohorts of RCCs

Cognitive Impairment in MRI-Negative Epilepsy: Relationship between Neurophysiological and Neuropsychological Measures

Background: Epileptic patients frequently encounter cognitive impairment. Functions that are mostly affected involve memory, attention, and executive function; however, this is mainly dependent on the location of the epileptic activity. The aim of the present study is to assess cognitive functions in MRI-negative epilepsy patients by means of neurophysiological and neuropsychological measures, as well as study the concept of transient cognitive impairment in patients with epileptiform discharges during EEG acquisition. Methods: The patients were enrolled from an outpatient Epilepsy/Clinical Neurophysiology clinic over a time period of 6 months. The study sample comprised 20 MRI-negative epilepsy patients (mean age ± standard deviation (SD), 30.3 ± 12.56 years; age range, 16–60 years; average disease duration, 13.95 years) and 10 age-matched controls (mean age ± SD, 24.22 ± 15.39 years), who were also education-matched (p > 0.05). Patients with epileptogenic lesions were excluded from the study. Informed consent was obtained from all subjects involved in the study. Auditory ERPs and the cognitive screening tool EpiTrack were administered to all subjects. Results: Latencies of P300 and slow waves were prolonged in patients compared to controls (p < 0.05). The ASM load and patients’ performance in the EpiTrack maze subtest were the most significant predictors of P300 latency. A decline in the memory, attention, and speed of information processing was observed in patients with cryptogenic epilepsy compared to age-matched controls, as reflected by P300 latency and EpiTrack scores

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G4C2 repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment.Fil: Sokratous, Maria. University Hospital Of Larissa; Grecia. University of Thessaly; GreciaFil: Schottlaender, Lucia Valentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bourinaris, Thomas. UCL Queen Square Institute of Neurology; Reino UnidoFil: Marogianni, Chrysoula. University Hospital Of Larissa; Grecia. University of Thessaly; GreciaFil: Arnaoutoglou, Marianthi. Aristotle University Of Thessaloniki; GreciaFil: Patrikiou, Eleni. University of Thessaly; GreciaFil: Ralli, Styliani. University Hospital Of Larissa; Grecia. University of Thessaly; GreciaFil: Markou, Aikaterini. University Hospital Of Larissa; Grecia. University of Thessaly; GreciaFil: Dardiotis, Efthimios. University Hospital Of Larissa; Grecia. University of Thessaly; GreciaFil: Houlden, Henry. UCL Queen Square Institute of Neurology; Reino UnidoFil: Hadjigeorgiou, Georgios M.. University Hospital Of Larissa; Grecia. University of Thessaly; Grecia. University of Cyprus; ChipreFil: Xiromerisiou, Georgia. University Hospital Of Larissa; Grecia. University of Thessaly; Greci