Freezing of gait in Parkinson’s disease patients treated with bilateral subthalamic nucleus deep brain stimulation: A long-term overview

Bilateral subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment in advanced Parkinson’s Disease (PD). However, the effects of STN-DBS on freezing of gait (FOG) are still debated, particularly in the long-term follow-up (>/=5-years). The main aim of the current study is to evaluate the long-term effects of STN-DBS on FOG. Twenty STN-DBS treated PD patients were included. Each patient was assessed before surgery through a detailed neurological evaluation, including FOG score, and reevaluated in the long-term (median follow-up: 5-years) in different stimulation and drug conditions. In the long term follow-up, FOG score significantly worsened in the off-stimulation/off-medication condition compared with the preoperative off-medication assessment (z = -1.930; p = 0.05) but not in the on-stimulation/off-medication (z = -0.357; p = 0.721). There was also a significant improvement of FOG at long-term assessment by comparing on-stimulation/off-medication and off-stimulation/off-medication conditions (z = -2.944; p = 0.003). These results highlight the possible beneficial long-term effects of STN-DBS on FOG

Freezing of Gait in Parkinson's Disease Patients Treated with Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Long-Term Overview

Bilateral subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment in advanced Parkinson's Disease (PD). However, the effects of STN-DBS on freezing of gait (FOG) are still debated, particularly in the long-term follow-up (≥5-years). The main aim of the current study is to evaluate the long-term effects of STN-DBS on FOG. Twenty STN-DBS treated PD patients were included. Each patient was assessed before surgery through a detailed neurological evaluation, including FOG score, and revaluated in the long-term (median follow-up: 5-years) in different stimulation and drug conditions. In the long term follow-up, FOG score significantly worsened in the off-stimulation/off-medication condition compared with the pre-operative off-medication assessment (z = -1.930; p = 0.05) but not in the on-stimulation/off-medication (z = -0.357; p = 0.721). There was also a significant improvement of FOG at long-term assessment by comparing on-stimulation/off-medication and off-stimulation/off-medication conditions (z = -2.944; p = 0.003). These results highlight the possible beneficial long-term effects of STN-DBS on FOG

ERBB2 in Cat Mammary Neoplasias Disclosed a Positive Correlation between RNA and Protein Low Expression Levels: A Model for erbB-2 Negative Human Breast Cancer

Human ERBB2 is a proto-oncogene that codes for the erbB-2 epithelial growth factor receptor. In human breast cancer (HBC), erbB-2 protein overexpression has been repeatedly correlated with poor prognosis. In more recent works, underexpression of this gene has been described in HBC. Moreover, it is also recognised that oncogenes that are commonly amplified or deleted encompass point mutations, and some of these are associated with HBC. In cat mammary lesions (CMLs), the overexpression of ERBB2 (27%–59.6%) has also been described, mostly at the protein level and although cat mammary neoplasias are considered to be a natural model of HBC, molecular information is still scarce. In the present work, a cat ERBB2 fragment, comprising exons 10 to 15 (ERBB2_10–15) was achieved for the first time. Allelic variants and genomic haplotype analyses were also performed, and differences between normal and CML populations were observed. Three amino acid changes, corresponding to 3 non-synonymous genomic sequence variants that were only detected in CMLs, were proposed to damage the 3D structure of the protein. We analysed the cat ERBB2 gene at the DNA (copy number determination), mRNA (expression levels assessment) and protein levels (in extra- and intra protein domains) in CML samples and correlated the last two evaluations with clinicopathological features. We found a positive correlation between the expression levels of the ERBB2 RNA and erbB-2 protein, corresponding to the intracellular region. Additionally, we detected a positive correlation between higher mRNA expression and better clinical outcome. Our results suggest that the ERBB2 gene is post-transcriptionally regulated and that proteins with truncations and single point mutations are present in cat mammary neoplastic lesions. We would like to emphasise that the recurrent occurrence of low erbB-2 expression levels in cat mammary tumours, suggests the cat mammary neoplasias as a valuable model for erbB-2 negative HBC.POCI/CVT/62940/2004 and by the PhD grants (SFRH/BD/23406/2005 and SFRH/BD/31754/2006, of the Science and Technology Foundation (FCT) from Portugal

Is serum estradiol really increased in patients with Klinefeler syndrome? Results from a meta-analysis study.

Background and aim KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. The aim of this study is to meta-analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. Methods An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (current contents-ISI was used for searching oldest studies). All studies (case–control, case–series, case–reports) reporting E2 measurement were considered. Con- trolled–studies were used for meta-analysis, the others only for reviews. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. Results Out of 956 articles, 26 case–control studies, 15 case–series and 21 case–reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta- analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7.93pg/ml (CI: 2.24, 13.61; PZ0.006), with a c2Z688.32 (I-squareZ97%). Serum T was significantly lower in KS than in HS, with a mean difference of K2.79 ng/ml (CI:K3,46,K2,11; P!0.001), with a c2Z198,29 (I-squareZ89%). Data from case–series and case–reports confirmed that E2 is not above the normal range in KS. Conclusions Serum E2 is not increased in KS and is significantly lower than in HS in this meta- analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues

IS SERUM ESTRADIOL (E2) REALLY INCREASED IN PATIENTS WITH KLINEFELER SYNDROME (KS)? RESULTS FROM A META-ANALYSIS STUDY

INTRODUCTION: KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. AIM: The aim of this study is to meta-analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. METHODS: An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (Current Contents-ISI was used for searching oldest studies). All studies (case-control, case- series, case-reports) reporting E2 measurement were considered. Controlled-studies were used for meta-analysis, the others only for reviews. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. RESULTS: Out of 956 articles, 26 case-control studies, 15 case-series and 21 case- reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta-analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7,93 pg/mL (CI:2,24,13,61;p=0,006), with a chi-squared=688,32 (I- square=97%). Serum T was significantly lower in KS than in HS, with a mean difference of -2,79 ng/mL (CI:-3,46,-2,11;p<0,001), with a chi-squared=198,29 (I- square=89%). Data from case-series and case-reports confirmed that E2 is not above the normal range in KS. CONCLUSIONS: Serum E2 is not increased in KS and is significantly lower than in HS in this meta-analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues

Il ruolo degli estrogeni nel maschio

The article reviewed all the pathophysiological aspects related to estrogen functions and dysfunctions in men

Il deficit congenito di aromatasi

The abstract deals with the issue of the Congress Talk on human cases of aromatase deficiency and estrogen resistance in men

Is serum estradiol (E2) really increased in patients with Klinefelter Syndrome (KS)? Results from a meta-analysis study.

BACKGROUND: KS has been classically described as characterized by hyperestrogenism and elevated serum E2 together with increased gonadotropins and low-to-normal serum testosterone (T). In literature, data on increased serum E2 are not solid. The aim of this study is to meta- analyse data from studies evaluating serum E2 in both KS and healthy subjects (HS) in order to verify if E2 is increased in KS. METHODS: An extensive MEDLINE was performed using ‘PubMed’ with the following key words: ‘KS’ and ‘E2’ or ‘T’ or ‘sex steroids’ from 1946 to January 2015 (Current Contents-ISI was used for searching oldest studies). All studies (case-control, case-series, case-reports) reporting E2 measurement were considered. Controlled-studies were used for meta-analysis. Only serum E2 at baseline (no ongoing treatments) was included. Meta-analysis was conducted according to the PRISMA statement using RevMan. RESULTS: Out of 956 articles, 26 case-control studies, 15 case-series and 21 case-reports had data on serum E2. A total of 878 KS and 1000 HS were included in the meta-analysis. Serum E2 was significantly higher in HS than in KS, with a mean difference of 7,93 pg/mL (CI: 2,24,13,61;p=0,006), with a chi-squared=688,32 (I-square=97%) (Figure 1). Serum T was significantly lower in KS than in HS, with a mean difference of -2,79 ng/mL (CI:-3,46,-2,11;p<0,001), with a chi-squared=198,29 (I-square=89%). Data from case-series and case-reports confirmed that E2 is not above the normal range in KS.CONCLUSIONS: Serum E2 is not increased in KS and is significantly lower than in HS in this meta-analysis. The limits of this study are the heterogeneity of methods for steroids measurement and the lack of studies having the comparison of serum E2 between KS and HS as primary endpoint. The traditional belief that KS is associated to elevated E2 should be reconsidered together with some pathophysiological and clinical issues