Hospital de Santa Maria
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Erlangen Score as a tool to predict progression from mild cognitive impairment to dementia in Alzheimer's disease
Full text linkBACKGROUND:
The previously described and validated Erlangen Score (ES) algorithm enables interpretation of the cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD), ordering them on an ordinal scale: from neurochemically normal (ES = 0) through improbable AD (ES = 1), possible AD (ES = 2 or 3), to probable AD (ES = 4). Here we assess the accuracy of the ES in predicting hazards of progression from the mild cognitive impairment (MCI) stage of AD to the dementia stage of the disease (Alzheimer's disease dementia (ADD)) in a novel, single-center cohort.
METHODS:
Baseline CSF biomarkers (amyloid beta (Aβ) 1-42, Aβ42/40, Tau, and pTau181), interpreted according to the ES, were used to estimate time to progression from the MCI stage of AD to ADD, conditional on age, gender, APOE ε4 genotype, and Mini Mental State Examination score in 144 MCI subjects, using the Extended Cox Model; the subjects were followed-up until they developed dementia or until they had been cognitively stable for at least 2 years. In addition, ES distributions were studied in 168 ADD cases and 66 neurologic controls. Further, we stratified MCI patients into those who progressed to ADD faster (within 3 years, n = 47) and those who progressed slower (n = 74).
RESULTS:
The distributions of the ES categories across the four diagnostic groups (Controls, MCI-Stable, MCI-AD, and ADD) were highly significantly different (Kruskal-Wallis χ2(df = 3) = 151.4, p < 0.001), with significant contrasts between each pair (p < 0.005), except between the ADD and the MCI-AD groups (p = 1.0). MCI patients with ES = 2 or 3 had 6-8 times higher hazards to progress to ADD compared to patients with ES = 0 or 1 in the first 3 follow-up years, and then their hazards decreased to those of the group with ES = 0 or 1. Patients with ES = 4 had hazards 8-12 times higher compared to the ES = 0 or 1 group. Faster progressors with ES = 2 or 3 had, in comparison to slower progressors, significantly lower Aβ1-42, Aβ1-40, and Aβ42/40, but comparable Tau and pTau181. A highly significant difference of the ES distributions between these two groups was observed (p < 0.001).
CONCLUSIONS:
Our current results reconfirm and extend the conclusions of the previously published report that the Erlangen Score is a useful tool facilitating interpretation of a complex pattern of the CSF AD biomarkers.info:eu-repo/semantics/publishedVersio
Eslicarbazepine acetate as monotherapy in clinical practice: Outcomes from Euro-Esli
Full text linkOBJECTIVES:
To assess the effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) monotherapy in clinical practice in Europe.
MATERIALS AND METHODS:
Euro-Esli was a pooled analysis of 14 European clinical practice studies. Responder rate (≥50% seizure frequency reduction) and seizure freedom rate (seizure freedom at least since prior visit) were assessed after 3, 6 and 12 months of ESL treatment and at last visit. Adverse events (AEs) and AEs leading to ESL discontinuation were assessed throughout follow-up. A subanalysis was conducted to assess outcomes for patients treated initially with ESL monotherapy and for patients treated at the last visit with ESL monotherapy.
RESULTS:
ESL was used as monotherapy in 88/2045 (4.3%) patients initially and in 229/1340 (17.1%) patients at the last visit. At 12 months, responder and seizure freedom rates were 94.1% and 88.2%, respectively, in patients treated initially with ESL monotherapy, and 93.2% and 77.4%, respectively, in patients treated at the last visit with ESL monotherapy. Corresponding values for patients treated initially with ESL adjunctive therapy were 74.8% and 39.0%, respectively; and for patients treated at the last visit with ESL adjunctive therapy, corresponding values were 70.4% and 25.9%, respectively. Safety and tolerability were generally comparable in patients treated with ESL as monotherapy or adjunctive therapy. The most commonly reported AEs (≥5% of patients in any group) were dizziness, somnolence, instability/ataxia, and fatigue.
CONCLUSIONS:
These clinical practice data support the use of ESL as monotherapy, as well as adjunctive therapy, for focal-onset seizures, complementing evidence from clinical trials.info:eu-repo/semantics/publishedVersio
Mesa 4 –“Armadilhas” urológicas: Casos clínicos; O “erro” em Medicina – Oportunidade de aprendizagem
No full textinfo:eu-repo/semantics/publishedVersio
Pru p 3 sublingual immunotherapy ultra-rush protocol is safe and clinically effective
Full text linkIntroduction. Sublingual immunotherapy (SLIT) with Pru p 3 can prevent severe allergic reactions to LTP-containing foods, but the standard initiation protocol is time-consuming. Objectives. Establish the safety of a novel ultra-rush initiation protocol for SLIT with Pru p 3. Methods. Prospective study comparing the side effects of the standard vs novel ultra-rush initiation protocols of SLIT with Pru p 3 in patients with anaphylaxis to LTP. Results. Fifteen patients were included (standard initiation, 5; ultra-rush initiation, 10), 80% females. All patients had oropharyngeal pruritus during initiation, 80% with spontaneous recovery, but no other gastro-intestinal, respiratory, cutaneous or systemic side effects occurred in any patient of both groups. Conclusion. The novel ultra-rush protocol halved the build-up time without increasing side effects.info:eu-repo/semantics/publishedVersio
A comprehensive screening of copy number variability in dementia with Lewy bodies
Full text linkThe role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.info:eu-repo/semantics/publishedVersio
Association between Adipokines and Biomarkers of Alzheimer's Disease: A Cross-Sectional Study
Full text linkBACKGROUND:
Adipose tissue dysfunction has been implicated in the pathophysiology of Alzheimer's disease. However, the involvement of adipokines, particularly adiponectin, remains unclear.
OBJECTIVE:
To compare serum and cerebrospinal fluid (CSF) levels of adiponectin, leptin and leptin-to-adiponectin ratio in patients within the spectrum of Alzheimer's disease and evaluate their relationship with classical biomarkers and their value as markers of progression.
METHODS:
Amnestic mild cognitive impairment (MCI, n = 71) and Alzheimer's dementia (AD, n = 53) subjects were consecutively recruited for serum and CSF adiponectin and leptin determination using an analytically validated commercial enzyme-linked immunosorbent assay (ELISA). Correlations were explored using adjusted Spearman's correlation coefficients. A logistic regression model and ROC analysis were performed to evaluate the staging predictive value of adipokines.
RESULTS:
Serum adiponectin was 33% higher in AD when compared to MCI patients. Adiponectin CSF levels, similar in both groups, were positively correlated with Aβ42 and cognitive function, though only in women. The area under the ROC curve was 0.673 (95% CI:0.57-0.78) for serum adiponectin as predictor of dementia stage and the cut-off 10.85μg/ml maximized the sum of specificity (87%) and sensitivity (44%).
CONCLUSION:
Although longitudinal studies are required, we hypothesize that higher serum adiponectin in AD patients constitutes a strategy to compensate possible central signaling defects. In addition, adiponectin might be specifically assigned to neuroprotective functions in women and eventually involved in the female-biased incidence of Alzheimer's disease.info:eu-repo/semantics/publishedVersio
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study
Full text linkINTRODUCTION:
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma.
METHODS:
We selected patients with a diagnosis in the ALS-FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas.
RESULTS:
We included 189 patients. Sixty-two had identified pathogenic mutations (39 C9ORF72). C9ORF72 carriers had a significantly higher risk of melanoma (odds ratio = 24.709; P < 0.007). There was no association with phenotype.
CONCLUSIONS:
These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes. Muscle Nerve 59:362-365, 2019.info:eu-repo/semantics/publishedVersio
Osteosynthesis of bilateral Vancouver B2 periprosthetic femoral fracture after a bilateral RM® total hip arthroplasty at 24 and 21-years follow-up: A case report
No full textINTRODUCTION:
The management of periprosthetic femoral fractures following hip arthroplasty is challenging, and the choice between osteosynthesis of the fracture and the revision of the prosthesis is still matter of discussion.
CASE REPORT:
In a 81-year-old male patient, a bilateral Vancouver type-B2 periprosthetic femoral fracture with stem loosening occurred after an accidental fall. The patient had severe medical comorbidities. The radiographic study showed a bilateral Robert Mathys cementless total hip arthroplasty at 24 and 21-years follow-up. The fractures were treated with open reduction and fixation with locking compression plates. Bicortical fixation of the loose stem was obtained by the screws of the locking plate, due to the polymeric composition of the isoelastic femoral stem. Both fractures sites were augmented with bone allografts. At follow-up period of 12 months, the X-rays showed bone union of both fractures and bilateral stable stem fixation. The patient expressed high degree of satisfaction with surgery result.
DISCUSSION:
The standard treatment for Vancouver type-B2 periprosthetic femoral fractures is the removal of the loose implant, fixation of the fracture, and implantation of a new revision femoral stem. However, the implantation of two long revision hip prostheses is a major operation for an older patient with precarious health condition, which can contribute to higher risk of medical and prosthetic complications.
CONCLUSION:
In older patients with multiple comorbidities, the use of locking plates can be a valid treatment of bilateral Vancouver B2-periprosthetic femoral fractures following RM® cementless isoelastic stem, as an alternative surgical option to femoral stem revision.info:eu-repo/semantics/publishedVersio
Lithium in Public Drinking Water and Suicide Mortality in Portugal: Initial Approach
Full text linkINTRODUCTION:
Lithium can be found naturally in drinking water. There is some evidence that natural levels of lithium in drinking water may have a protective effect on suicide mortality. The aim of this study is to evaluate if higher natural concentrations of lithium in public drinking water are associated with lower local rates of suicide in Portugal.
MATERIAL AND METHODS:
Suicide standardized mortality ratios at 54 Portuguese municipalities within the 6-year period from 2011 to 2016 was correlated with lithium concentrations in public drinking water and socioeconomic factors using Pearson's correlation coefficients (r) with one-tailed tests. Multivariate regression models were adjusted for well-known socioeconomic factors known to influence suicide mortality in Portugal (population density, average income per capita, unemployment rates and proportion of Roman Catholics).
RESULTS:
The average lithium level, as evidenced by raw values for 54 municipalities, was 10.88 μg/L (standard deviation = 27.18). There was no statistically significant correlation between lithium levels and suicide standardized mortality ratio (r = 0.001, p-value = 0.996). There was a statistically significant higher suicide standardized mortality ratio for males (p-value = 0.000). When analyzed separately for both sexes, no statistically significant correlation between suicide standardized mortality ratio and lithium levels was found (male r = 0.024, p-value = 0.862; female r = 0.000, p-value = 0.999). No association between suicide standardized mortality ratio and socioeconomic factors was found: population density (r = -0.144, p-value = 0.300), average income per capita (r = -0.112, p-value = 0.418), unemployment rates (r = -0.001, p-value = 0.994), and proportion of Roman Catholics (r =- 0.150, p-value = 0.278).
DISCUSSION:
Unlike most international studies regarding natural lithium levels and suicide risk, no inverse relation was found in Portugal. Factors such as the country's low suicide rate, confunding suicide risk variables, and unaccounted lithium intake might have influenced these findings.
CONCLUSIONS:
No association between lithium in public drinking water and suicide rates was found in Portugal.info:eu-repo/semantics/publishedVersio