Publications by authors named "Marco Fernandes"

43 Publications

Progression in Parkinson's Disease: Variation in Motor and Non-motor Symptoms Severity and Predictors of Decline in Cognition, Motor Function, Disability, and Health-Related Quality of Life as Assessed by Two Different Methods.

Mov Disord Clin Pract 2021 Aug 19;8(6):885-895. Epub 2021 Jun 19.

Department of Neurology, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental Lisbon Portugal.

Background: Parkinson's disease (PD) is multi-symptom disease with variable progression.

Objectives: We performed a longitudinal study to address the evolution of motor symptoms (MS) and non-motor symptoms (NMS), predictors of motor-, cognitive-, disability-, and health-related quality of life (HRQL) status and the relative usefullness of a battery of separate NMS scales (BSS) versus the Non-Motor Symptom Scale (NMSS).

Methods: Seventy-two patients were assessed at baseline and 4 years later with the NMSS and BSS. We assessed the following outcomes: cognition (Montreal Cognitive Assessment scale [MoCA]), disability (Unified Parkinson's Disease Rating Scale Part II [UPDRS II], Schwab and England [S&E]), motor dysfunction (Unified Parkinson's Disease Rating Scale Part III [UPDRS III], Hoehn and Yahr [HY]), and HRQL (EuroQol [EQ] EQ-vertical visual analogue scale [VAS] and EQ-Index). Statistical analysis included a comparison between scales scores at both time points and multivariate regression analysis to calculate the impact of each baseline symptom in outcomes. NMSS and BSS were introduced in separate models.

Results: NMSS Domain 4: perception/hallucinations, Parkinson's Psychosis Questionnaire, Apathy Scale, NMSS Domain 7: urinary, S&E, UPDRS II, HY, and MoCA scores worsened significantly. Dementia increased to a 4-year prevalence of 39.8%. In the multivariate model using BSS, cognitive state variation was significantly predicted by baseline HY, EQ-Index, and S&E. Using the NMSS, MoCA change was significantly associated with NMSS Domain 4: perceptions/hallucination score, cognitive status with UPDRS III score, HRQL with NMSS Domain 4: perception/hallucinations score, and S&E.

Conclusion: Our study suggests that NMS progress heterogeneously, BSS approach being more sensitive to change than NMSS. The multivariate analysis has shown that S&E and NMSS Domain 4: perception/hallucinations scores are the stronger predictors of HRQL and cognitive dysfunction variation, favoring NMSS over the BSS approach.
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http://dx.doi.org/10.1002/mdc3.13262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354069PMC
August 2021

Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.

Clin Neurol Neurosurg 2021 Sep 21;208:106829. Epub 2021 Jul 21.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Introduction: Point mutations in the Peripheral Myelin Protein 22 (PMP22) gene comprise less than 5% of the Charcot-Marie-Tooth (CMT) type 1 cases, and individualize either the CMT 1E subtype, or Hereditary Neuropathy with Liability to Pressure Palsy. The phenotype of CMT 1E presents with a severe early-onset polyneuropathy associated with deafness, although the clinical spectrum is broad.

Case Report: We describe a novel PMP22 gene point mutation (c.84G>T;p.(Trp28Cys)) in three patients of a Portuguese family with variable phenotypes, ranging from asymptomatic to mild complaints of distal limb numbness and gait difficulties, with the age of onset of symptoms ranging from mid-twenties to late-sixties, and no associated disability. In all affected patients, there was evidence of diffuse demyelinating sensorimotor polyneuropathy. Hearing loss does not seem to be associated with this variant, albeit neuropathic pain was reported.

Conclusions: These findings suggest that this particular point mutation in the PMP22 gene is associated with a mild phenotype, further emphasizing that there are still unknown mechanisms (genetic and/or epigenetic) that may play a role in the clinical spectrum of CMT1E patients. Next generation sequencing panels including commonly mutated genes in CMT should be considered in CMT1 cases negative for PMP22 gene duplication.
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http://dx.doi.org/10.1016/j.clineuro.2021.106829DOI Listing
September 2021

Adaptive optical beam alignment and link protection switching for 5G-over-FSO.

Opt Express 2021 Jun;29(13):20136-20149

Free-space optics (FSO) convey an enormous potential for ultra-high-capacity seamless fiber-wireless transmission in 5G and beyond communication systems. However, for its practical exploitation in future deployments, FSO still requires the development of very high-precision and robust optical beam alignment. In this paper, we propose two different methods to achieve tight, precise alignment between a pair of FSO transceivers, using a gimbal-based setup. For scenarios where there is no information about the system, a black-box artificial intelligence (AI)-based method resorting to particle swarm optimization (PSO) is presented, enabling to autonomously align the system with a success rate above 96%, converging from a blind starting position. Alternatively, for scenarios with partial information about the FSO system, we propose a tailored custom algorithm, with a success rate of 92%, but with a ∼4 × reduction on the alignment time. The automatic alignment is then validated in a 5G-like fiber-FSO scenario, transmitting a 16 × 400 MHz signal and achieving a maximum bit-rate of 30 Gbps. Moreover, we propose the implementation of a fail-safe mechanism with a backup FSO receiver, thereby providing an extra degree of robustness towards temporary events of strong degradation on the FSO channel or line-of-sight (LOS) interruption.
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http://dx.doi.org/10.1364/OE.426551DOI Listing
June 2021

ORA , FCS , and PT Strategies in Functional Enrichment Analysis.

Methods Mol Biol 2021 ;2361:163-178

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.

Downstream analysis of OMICS data requires interpretation of many molecular components considering current biological knowledge. Most tools used at present for functional enrichment analysis workflows applied to the field of proteomics are either borrowed or have been modified from genomics workflows to accommodate proteomics data. While the field of proteomics data analytics is evolving, as is the case for molecular annotation coverage, one can expect the rise of enhanced databases with less redundant ontologies spanning many elements of the tree of life. The methodology described here shows in practical steps how to perform overrepresentation analysis, functional class scoring, and pathway-topology analysis using a preexisting neurological dataset of proteomic data.
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http://dx.doi.org/10.1007/978-1-0716-1641-3_10DOI Listing
January 2021

Radiotherapy for locally advanced head and neck cancer in elderly patients: results and prognostic factors a single cohort.

Rep Pract Oncol Radiother 2021 25;26(1):12-19. Epub 2021 Feb 25.

Philosophy Sciences and Letters of Ribeirao Preto, University of São Paulo, Brazil.

Background: The objective of this study was to assess the treatment outcomes and prognostic factors of elderly patients with locally advanced head and neck cancer (LAHNC) undergoing radiotherapy (RT).

Materials And Methods: A retrospective cohort from a single institution, from 2000 to 2015, including patients older than 65 years old with LAHNC (stage III-IVa) treated by RT combined or not with chemotherapy (CRT). Univariate and multivariate analysis (MVA) were performed to identify prognostic factors associated with overall survival (OS), cancer-specific survival (CS), and locoregional control (LRC). A p-value < 0.05 was considered significant.

Results: 220 patients with LAHNC and > 65 years of age were identified. The median follow-up was 3.8 years, the 3/5 years estimated OS, CS, and LRC rate was 40%/30%, 49%/34%, 76%/45%, respectively. In the univariate analysis, clinical stage (III . IVa/b, p = 0.01), tumor stage (T1/2 . T3/4, p = 0.035), Karnofsky performance status (KPS, 60-70, p = 0.03) and tumor site (other than . hypopharynx, p = 0.0001) were associated with lower OS. Patients with clinical stage (III . IVa/b, p = 0.01), tumor stage (T1/2 . T3/4, p = 0.015), N stage (N0/1 . N2/3, p = 0.04), (KPS 60-70, p = 0.04) and tumor site (other than . hypopharynx, p = 0.0001) had worst CS. For the LRC, clinical stage (III . IVa/b, p = 0.02), tumor stage (T1/2 . T3/4, p = 0.02), treatment type (CRT . RT, p = 0.02), RT technique (IMRT . 2DRT/3DRT, p = 0.0001), and tumor site (other than . hypopharynx, p = 0.02) were significant. In the MVA, KPS maintained significant for OS and CS. For LRC, clinical stage (Iva/b, p = 0.007), tumor stage (T3/4, p = 0.047) and radiotherapy technique other than IMRT (p = 0.0001) were significant.

Conclusion: The OS, CS, and LRC were associated with several prognostic factors. The clinical performance was the main marker of OS and CS. Chemoradiation should be offered to selected elderly patients using IMRT to improve LRC.
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http://dx.doi.org/10.5603/RPOR.a2021.0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086709PMC
February 2021

Mitral Valve Subacute Endocarditis Caused by Abiotrophia Defectiva: A Case Report.

Clin Pract 2021 Mar 2;11(1):162-166. Epub 2021 Mar 2.

Internal Medicine, Hospital São Francisco Xavier-Centro Hospitalar Lisboa Ocidental, 1449-005 Lisbon, Portugal.

is a rare agent of endocarditis and subacute presentation may delay the diagnosis. We present the case of a 41-year-old male who was admitted to the hospital for further investigation regarding a consumptive syndrome with microcytic anaemia. Past medical history included new-onset mitral insufficiency followed by an ischaemic stroke due to small vessel disease. Thoraco-abdominal computed tomography revealed a splenic infarction. In the presence of two ischaemic events associated with mitral valve disease of unknown aetiology, we considered the possibility of subacute endocarditis. Blood cultures were positive for , and transoesophageal echocardiography confirmed the diagnosis. As a subacute presentation of endocarditis, the paucity of symptoms caused a five-month delay in diagnosis. New-onset valvular disease and a stroke in an otherwise healthy young patient should always prompt proper investigation. This case highlights several complications caused by septic emboli of undiagnosed and untreated endocarditis.
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http://dx.doi.org/10.3390/clinpract11010022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930979PMC
March 2021

High Blood Pressure and Risk of Dementia: A Two-Sample Mendelian Randomization Study in the UK Biobank.

Biol Psychiatry 2021 04 27;89(8):817-824. Epub 2020 Dec 27.

Department of Psychiatry, Oxford University, Oxford, United Kingdom.

Background: Findings from randomized controlled trials have yielded conflicting results on the association between blood pressure (BP) and dementia traits. We tested the hypothesis that a causal relationship exists between systolic BP (SBP) and/or diastolic BP (DBP) and risk of Alzheimer's disease (AD).

Methods: We performed a generalized summary Mendelian randomization (GSMR) analysis using summary statistics of a genome-wide association study meta-analysis of 299,024 individuals of SBP or DBP as exposure variables against three different outcomes: 1) AD diagnosis (International Genomics of Alzheimer's Project), 2) maternal family history of AD (UK Biobank), and 3) paternal family history of AD (UK Biobank). Finally, a combined meta-analysis of 368,440 individuals that included these three summary statistics was used as final outcome.

Results: GSMR applied to the International Genomics of Alzheimer's Project dataset revealed a significant effect of high SBP lowering the risk of AD (β = -0.19, p = .04). GSMR applied to the maternal family history of AD UK Biobank dataset (SBP [β = -0.12, p = .02], DBP [β = -0.10, p = .05]) and to the paternal family history of AD UK Biobank dataset (SBP [β = -0.16, p = .02], DBP [β = -0.24, p = 7.4 × 10]) showed the same effect. A subsequent combined meta-analysis confirmed the overall significant effect for the other SBP analyses (β = -0.14, p = .03). The DBP analysis in the combined meta-analysis also confirmed a DBP effect on AD (β = -0.14, p = .03).

Conclusions: A causal effect exists between high BP and a reduced late-life risk of AD. The results were obtained through careful consideration of confounding factors and the application of complementary MR methods on independent cohorts.
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http://dx.doi.org/10.1016/j.biopsych.2020.12.015DOI Listing
April 2021

Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy: A case report and literature review.

Clin Neurol Neurosurg 2021 Apr 2;203:106591. Epub 2021 Mar 2.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisbon, Portugal; CEDOC Chronic Diseases Research Centre, Nova Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise.

Case Report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit.

Conclusions: This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.
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http://dx.doi.org/10.1016/j.clineuro.2021.106591DOI Listing
April 2021

Double vision and facial palsy.

Pract Neurol 2021 Mar 3. Epub 2021 Mar 3.

Neurology, Hospital de Egas Moniz, Lisbon, Portugal.

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http://dx.doi.org/10.1136/practneurol-2020-002722DOI Listing
March 2021

[Correction to the article "SYSVENT: Proof of Concept Study of a Prototype to Ventilate Critical Care Patients", Published on Acta Med Port 2021 Jan;34(1):12-19.]

Acta Med Port 2021 Jan 4;34(1):69. Epub 2021 Jan 4.

Unidade de Cuidados Intensivos. Departamento de Medicina. Hospital da Luz - Arrábida. Vila Nova de Gaia. Portugal.

On page 13, in Table 1, first line on the third column (under 'Amplitude'), where it reads: "[0,21; 1].", It should read: "[21; 100]". Article published with errors: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/14516.
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http://dx.doi.org/10.20344/amp.15514DOI Listing
January 2021

Lower motor neuron signs as part of the clinical spectrum of Creutzfeldt-Jakob disease: A histopathological correlation.

Clin Neurol Neurosurg 2021 Mar 29;202:106535. Epub 2021 Jan 29.

Neurology Department, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal; CEDOC - Nova Medical School, Universidade Nova de Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.clineuro.2021.106535DOI Listing
March 2021

REM sleep absence in patients referred to polysomnography for REM sleep behavior disorder.

J Neural Transm (Vienna) 2021 02 27;128(2):191-198. Epub 2021 Jan 27.

Neurology Department, Serviço de Neurologia, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental, Rua da Junqueira 126, 1349-019, Lisboa, Portugal.

Detection of REM sleep behavior disorder (RBD) with polysomnography (PSG) is relevant for the diagnosis of α-synucleinopathies. However, some patients referred for suspicion of RBD do not present REM sleep at PSG (NoREMSusRBD), rendering the study inconclusive. Our objective was to investigate disorders possibility associated with REM sleep absence in patients referred to PSG for investigation of RBD, in particular α-synucleinopathies. A sleep-lab database was revised to select NoREMSusRBD (n = 15) and patients: with no REM sleep referred for suspicion of other sleep disorder (NoREMSusOther, n = 28); referred for RBD suspicion with negative PSG (NegativeRBD, n = 24); α-synucleinopathies with no REM sleep (NoREMα, n = 23) and idiopathic RBD (iRBD, n = 26). NoREMSusRBD patients were compared with the other groups regarding PSG data and the emergence of prodromal features or established criteria for α-synucleinopathy. Severe Obstructive Sleep Apnea (OSA) was significantly more frequent in the NoREMsusRBD compared to the NoREMα and iRBD groups. No patient in the NoREMSusRBD developed a α-synucleinopathy (2 cases on the iRBD group). The prevalence of prodromal features in NoREMSusRBD (n = 7, 46.7%) was similar to that of iRBD (n = 18, 69.2%) and significantly higher than in the other groups. Apnea-Hypopnea Indices (AHI) were significantly higher in the NoREMSusRBD compared with iRBD and NoREMα. Our study suggests that the absence of REM sleep in NoREMSusRBD could be caused by OSA but does not exclude the possibility of underlying α- synucleinopathy, suggested by an increased prevalence of prodromal features. These data support the need for excluding OSA in patients suspected for RBD and recommends follow-up of NoREMSusRBD patients to uncover a possible α- synucleinopathy.
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http://dx.doi.org/10.1007/s00702-021-02300-8DOI Listing
February 2021

Proximal Nerve Root Involvement in immunoglobulin M Anti-Myelin-Associated Glycoprotein Neuropathy Presenting as Cauda Equina Syndrome.

J Clin Neuromuscul Dis 2020 Dec;22(2):109-113

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.

Typical distal symptoms in anti-myelin-associated glycoprotein (anti-MAG) neuropathy are believed to be due to the binding of immunoglobulin M to distal nerve terminals. We describe the case of a 56-year-old man diagnosed with immunoglobulin M anti-MAG neuropathy in the setting of Waldenström macroglobulinemia, which developed acute neurological worsening presenting as cauda equina syndrome. Lumbosacral magnetic resonance imaging revealed enlarged nerve roots with diffuse heterogeneous gadolinium enhancement. Treatment with steroids resulted in substantial clinical improvement. Increased recognition of atypical presentations may lead to improved characterization of anti-MAG neuropathy as a more widespread disease.
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http://dx.doi.org/10.1097/CND.0000000000000307DOI Listing
December 2020

[SYSVENT: Proof of Concept Study of a Prototype to Ventilate Critical Care Patients].

Acta Med Port 2021 Jan 6;34(1):12-19. Epub 2020 Nov 6.

Unidade de Cuidados Intensivos. Departamento de Medicina. Hospital da Luz - Arrábida. Vila Nova de Gaia. Portugal.

Introduction: The new coronavirus pandemic has led to scarcity of invasive ventilation resources in hospitals in several countries. In this context, the Portuguese Medical Association invited intensive care physicians who, in collaboration with SYSADVANCE S.A., developed SYSVENT OM1, a ventilator capable of operating in controlled and assisted modes (volume and pressure) and able to treat patients admitted to intensive care units. In this study we do the proof of concept comparing programmed tidal volume, inspiratory pressure and positive end-expiratory pressure with those measured by the ventilator and an external measuring equipment.

Material And Methods: We set up the ventilator in tandem with an artificial lung and a flow analyzer. We measured expiratory tidal volume, and inspiratory pressure against three levels of compliance, each with six steps of tidal volume. Positive end-expiratory pressure was measured at 2 cmH2O incremental along eight steps. For each measurement, we performed three readings.

Results: Considering each of the three single variables, the mean value of the highest difference between programmed values and measured values is, for all of them, within what we considered to be acceptable for a prototype model (tidal volume = -28.1 mL, inspiratory pressure = 0.8 cmH2O and positive end-expiratory pressure = -1.1 cmH2O). This difference is greater when evaluated with the external measuring equipment in comparison with the ventilator.

Discussion: The results showed a good monitoring and accuracy performance. Technical limitations related with the artificial lung and the flow analyzer have been documented, which do not compromise the results, but limit their amplitude.

Conclusion: For tested parameters, the ventilator has a good operating performance, is in accordance with the initial premises and has potential for clinical use.
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http://dx.doi.org/10.20344/amp.14516DOI Listing
January 2021

Evaluation of the Radiographic Parameters of Sagittal and Spinopelvic Alignment in Patients with Osteoarthritis submitted to Total Hip Arthroplasty.

Rev Bras Ortop (Sao Paulo) 2020 Oct 16;55(5):591-596. Epub 2020 Mar 16.

Divisão de Pesquisa, Instituto Nacional de Traumatologia e Ortopedia, Rio de Janeiro, RJ, Brasil.

 To evaluate radiographic parameters of sagittal and spinopelvic alignment in patients with hip osteoarthritis (OA) undergoing primary total hip arthroplasty (THA) to define the primary surgical approach in individuals with concomitant spinal and hip joint disease.  Longitudinal, prospective, comparative study with 27 patients undergoing THA and 43 subjects without OA.  An association between hip and spine degenerative disease in patients with OA was noted. After THA, radiographic parameters of pelvic tilt angle, sagittal vertical axis (EVS) and seventh cervical vertebra/sacrofemoral distance (C7/DSF) ratio were similar to values from volunteers without joint disease. Global coronal alignment (ACG), sagittal alignment, spinopelvic T1 and T9 tilts (IT1EP and IT9EP), sacral tilt (IS), pelvic version (VP), pelvic type and lumbopelvic complex (CLP) did not change after THA.  Among the sagittal and spinopelvic alignment parameters evaluated, the pelvic tilt angle, the EVS, and the C7/DSF ratio were corrected after THA and can guide the surgeon in the decision-making process for patients with concomitant spinal and hip joint disease. Spinal deformity may compensate for hip changes.
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http://dx.doi.org/10.1055/s-0040-1701286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575383PMC
October 2020

Polysomnographic predictors of sleep, motor and cognitive dysfunction progression in Parkinson's disease: a longitudinal study.

Sleep Med 2021 01 25;77:205-208. Epub 2020 Jun 25.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

Objective: To assess the predictive value of polysomnographic (PSG) data in the prospective assessment of cognitive, motor, daytime and nighttime sleep dysfunction in Parkinson's Disease (PD) patients.

Methods: PD patients were assessed at baseline with video-PSG and with cognitive (MoCA), Sleep (SCOPA-Sleep Nighttime and Daytime scores) and Motor (UPDRSIII) function scales at both baseline and four years later. Linear regression analysis was used to assess the relation between PSG variables at baseline and change in symptoms scores.

Results: We included a total of 25 patients, 12 with rapid eye movement (REM) sleep behavior disorder (RBD) (in 8 PSG was inconclusive, due to lack of REM sleep). MoCA scores decreased significantly at follow-up, while SCOPA-Sleep Daytime and SCOPA-Sleep Nighttime and UPDRSIII did not vary. Lower N3 percentage at baseline was significantly associated with MoCA decrease. Higher Periodic Limb Movements in Sleep index (PLMS) and the presence of RBD were significantly associated with SCOPA daytime score increase. Higher global severity of RBD, tonic RSWA and total number of motor events during REM sleep were associated with SCOPA Nighttime score increase.

Conclusions: The present work suggests that PSG data could be useful for predicting PD cognitive and sleep dysfunction progression. Reduced SWS could predict deterioration of cognitive function, while baseline PLMS could be useful to predict worsening of daytime sleep dysfunction. Severity of RBD could be used for estimating nighttime sleep symptoms progression.
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http://dx.doi.org/10.1016/j.sleep.2020.06.020DOI Listing
January 2021

Do dreams tell the future? Dream content as a predictor of cognitive deterioration in Parkinson's disease.

J Sleep Res 2021 06 9;30(3):e13163. Epub 2020 Aug 9.

Department of Neurology, Centro Hospitalar de Lisboa Ocidental, Hospital de Egas Moniz, Lisboa, Portugal.

Cross-sectional studies suggest a correlation between alterations in dream content reports and executive dysfunction tests in Parkinson's disease (PD), but this has not been assessed in longitudinal studies. Our objective was to assess the predictive value of dream content for progression of cognitive dysfunction in PD. We prospectively addressed all consecutive, non-demented patients with PD attending an outpatient clinic during a 1-year period. Dream reports were collected at baseline by means of a dream diary and analysed according to the Hall and Van de Castle system. Patients were assessed at baseline for rapid eye movement sleep behaviour disorder, motor stage, mood disorder and psychosis. The Montreal Cognitive Assessment (MoCA) was applied at baseline and 4 years later. Linear regression analysis was used to the test the relation between each dream index (predictors), demographic and other motor and non-motor variables (covariates), and change in MoCA scores (dependent variable). In all, 58 patients were assessed at both time points and 23 reported at least one dream (range 1-27, total 148). Aggression, physical activities, and negatively toned content predominated in dream reports. The MoCA scores decreased significantly from baseline to follow-up. In the multivariate model, negative emotion index was the strongest predictor of cognitive decline. We found a significant positive association between negative emotions in dreams at baseline and subsequent reduction in MoCA scores. These findings suggest that some dream content in patients with PD could be considered a predictor of cognitive decline, independent of other factors known to influence either dream content or cognitive deterioration.
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http://dx.doi.org/10.1111/jsr.13163DOI Listing
June 2021

cutaneous infection: An opportunistic disease in an immunosuppressed patient with myasthenia gravis.

IDCases 2020 13;21:e00817. Epub 2020 May 13.

Infectious Diseases and Tropical Medicine Department, Hospital de Egas Moniz - Centro de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal.

can cause chronic skin, soft-tissue or bone infections. and is often associated with the immunocompromised state.We describe a case of a 58-year-old male patient with myasthenia gravis, chronically immunosuppressed, with a four month progression of growing erythematous, nodular and hard cutaneous lesions in the left forearm, leg and foot. He was receiving immunoglobulin every four weeks (2 g/kg) and prednisolone 25 mg/day and had an important previous history of several opportunistic infections while he was receiving corticosteroids. Histopathological examination of a biopsy showed acid-fast bacilli and tissue culture identified a spp. within seven days of incubation, with being identified by polymerase chain reaction assay. Antimicrobial susceptibility testing was performed showing no resistance and the patient was successfully treated during four months with ciprofloxacin, clarithromycin and trimethoprim-sulfamethoxazole with regression of the lesions, leaving some hyperpigmentation scars and without unbalancing his neurological disease. Patients with myasthenia gravis should be closely monitored because first line treatments for infection may be associated with myasthenic crisis.
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http://dx.doi.org/10.1016/j.idcr.2020.e00817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248646PMC
May 2020

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.

Neuromuscul Disord 2020 04 23;30(4):331-335. Epub 2020 Feb 23.

Center for Predictive and Preventive Genetics (CGPP), Institute of Molecular and Cellular Biology (IBMC), Porto, Portugal; 3S - Institute of Investigation and Innovation in Health, Universidade do Porto, Porto, Portugal; UnIGENe (Unit for Genetic and Epidemiological Research in Neurological Diseases), IBMC (Institute for Molecular and Cell Biology), Universidade do Porto, Porto, Portugal.

Congenital myasthenic syndromes are disorders of the neuromuscular junction resulting from genetic defects in its components. Clinical presentations are diverse and virtually always of early onset. We report a 67-year-old female patient first presenting with episodes of sudden respiratory failure. A diagnosis of seronegative myasthenia gravis was put forward based on the presence of a limb-girdle pattern of muscle weakness with pathological decremental responses on Repetitive Nerve Stimulation. Lack of response to steroids, intravenous human immunoglobulin and acetylcholinesterase inhibitors lead us to test for classical congenital myasthenic syndrome genes. A c.1378dup heterozygotic mutation in DOK7 was found, classically (albeit not exclusively) described as pathogenic only when inherited in a homozygotic fashion. Patients with such a single, heterozygous mutation have been previously described, but these have been left unexplained. Thus, under certain still poorly understood circumstances, a heterozygotic state may allow for disease manifestation. These patients may benefit from tailored therapies akin to those normally reserved to homozygotic/compound heterozygotic patients. Awareness for and recognition of such conditions are expected to allow for better provided care and improved quality of life.
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http://dx.doi.org/10.1016/j.nmd.2020.02.009DOI Listing
April 2020

Bilateral Femoral Neck Fracture Secondary to Seizure: Treatment with Total Hip Arthroplasty by the Direct Anterior approach.

Rev Bras Ortop (Sao Paulo) 2020 Apr 3;55(2):254-257. Epub 2020 Feb 3.

Instituto Nacional de Traumatologia e Ortopedia (Into), Rio de Janeiro, RJ, Brasil.

Bilateral fracture of the femoral neck secondary to seizure is a rare event. The occurrence of these lesions is related to vigorous tonic-clonic muscular contractions and to the use of anticonvulsive medications. Femoral neck fractures in young adults treated with total hip arthroplasty are the exception, and the choice of surgical access should consider several factors; the direct anterior approach is a possibility for total hip arthroplasty. The authors present the case of a 36-year-old male with bilateral fracture of the femoral neck secondary to seizure, and in regular use of phenytoin. Due to the risk of fixation failure and prolonged evolution time, bilateral total hip arthroplasty was the procedure of choice. The choice of the approach should take into consideration the patient's anatomy, material availability, and surgeon's experience. Thus, the greater ease of preparation and positioning of the patient, the shorter hospital stay, the early postoperative rehabilitation, and the mastery of the technique by the surgeon, are possible justifications for the adoption of the direct anterior approach.
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http://dx.doi.org/10.1016/j.rbo.2017.12.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186063PMC
April 2020

REM sleep behaviour disorder in essential tremor: A polysomnographic study.

J Sleep Res 2021 04 23;30(2):e13050. Epub 2020 Apr 23.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

Our objectives were to assess the prevalence of REM sleep behaviour disorder in patients with Essential Tremor, using video-polysomnography and to compare REM sleep behaviour disorder features in essential tremor with those of patients with alpha-synucleinopathies. Forty-nine patients with essential tremor were screened with the REM Sleep Behaviour Disorder Screening Questionnaire. Patients scoring positive and those with spontaneous complaints of REM sleep behaviour disorder (n = 6) underwent video-polysomnography. The clinical features of essential tremor were compared between patients with and without REM sleep behaviour disorder. Video-polysomnography data were compared between patients who had essential tremor and Parkinson's disease with REM sleep behaviour disorder and those with idiopathic REM sleep behaviour disorder. Fourteen patients (23.5%) screened positive for REM sleep behaviour disorder, confirmed by video-polysomnography in five (11.6%). All patients with essential tremor and REM sleep behaviour disorder had rest tremor, compared with 13 (34.2%) in the group with essential tremor but without REM sleep behaviour disorder (p = .009). In video-polysomnography, patients with essential tremor and REM sleep behaviour disorder were similar to patients with Parkinson's disease with REM sleep behaviour disorder and presented worse sleep dysfunction and lower severity of REM sleep behaviour disorder compared to those with idiopathic REM sleep behaviour disorder. We found a high prevalence of REM sleep behaviour disorder in patients with essential tremor, associated with a predominance of rest tremor. Polysomnography data from patients with essential tremor and REM sleep behaviour disorder were similar to those in patients with Parkinson's disease. This suggests a relation between this subgroup of patients with essential tremor and the alpha-synucleinopathies.
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http://dx.doi.org/10.1111/jsr.13050DOI Listing
April 2021

Tranexamic acid use in high-risk blood transfusion patients undergoing total hip replacement: a randomised controlled trial.

Hip Int 2021 Jul 9;31(4):456-464. Epub 2019 Dec 9.

Centre for Specialised Hip Care, National Institute of Traumatology and Orthopaedics, Rio de Janeiro, Brazil.

Introduction: We hypothesised that a single preoperative intravenous dose of tranexamic acid (TXA) is effective in patients who undergo total hip arthroplasty (THA) and are at high risk of blood transfusion (preoperative haemoglobin level <13.0 g/dL).

Methods: A prospective, randomised controlled study of 308 patients who underwent primary THA was conducted. 256 participants remained in the study and were divided into 2 major groups: high-risk group comprising 116 patients with preoperative Hb < 13.0 g/dL (57 of whom were treated with a 15 mg/kg intravenous bolus of TXA, and 59 of whom did not receive the medication) and low-risk group comprising 140 patients with Hb ⩾ 13.0 g/dL (71 of whom received the same dose of TXA, and 69 of whom did not). Participants were followed up at 3 weeks, 3 months, 6 months, and 1 year after surgery.

Results: The use of TXA in both groups of patients significantly increased the levels of postoperative Hb and Ht. TXA protected high-risk patients from blood loss and from transfusion. In low-risk patients the use of TXA reduced blood loss but did not protect from blood transfusion. The median length of stay was significantly affected for high-risk patients. No thromboembolic event was recorded in either group.

Conclusions: TXA reduces intra- and postoperative bleeding, transfusion rates, and the length of hospital stays in patients with low preoperative Hb. The use of TXA in patients with normal preoperative Hb reduces blood loss but does not affect the transfusion rate.ClinicalTrials.gov Identifier: NCT03019198.
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http://dx.doi.org/10.1177/1120700019889947DOI Listing
July 2021

Acute-onset chronic inflammatory demyelinating polyneuropathy with anti-neurofascin-155 antibodies and bilateral facial nerve enhancement.

J Neuroimmunol 2019 11 21;336:577026. Epub 2019 Aug 21.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal; CEDOC - Chronic Diseases Research Center, Nova Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

A 26-year-old female presented with acute onset distal paraparesis, upper limb tremor and bilateral facial palsy. Neurophysiology revealed a sensorimotor demyelinating polyneuropathy and lumbar puncture revealed an albuminocytologic dissociation. Neuroaxis MRI revealed bilateral facial nerve and cauda equina enhancement. Initially diagnosed as Guillain-Barré Syndrome, poor response to intravenous immunoglobulin, persistent deterioration, anti-neurofascin-155 antibodies and clinical response to steroid therapy led to diagnosis of acute-onset chronic inflammatory demyelinating polyneuropathy (CIDP). CIDP patients with anti-neurofascin-155 antibodies are younger, with distal predominant weakness, tremor, and poor response to intravenous immunoglobulin. Up to 16% can present acutely, however bilateral facial weakness is rare.
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http://dx.doi.org/10.1016/j.jneuroim.2019.577026DOI Listing
November 2019

Motor and non-motor function predictors of mortality in Parkinson's disease.

J Neural Transm (Vienna) 2019 11 5;126(11):1409-1415. Epub 2019 Aug 5.

Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Rua da Junqueira, 126, 1349-019, Lisbon, Portugal.

Doubts persist regarding the influence of Parkinson's disease (PD) on mortality. Our objective was to assess mortality rates in a prospectively followed cohort of PD patients and the impact of motor and non-motor symptoms in survival. 130 consecutive PD patients were followed during a 4-year period or until death. Baseline assessment included motor function (UPDRSIII, Hoehn and Yahr-HY), incapacity (Schwab and England-S&E, UPDRS II), Health-Related quality of life (EuroQol), non-motor symptoms (Non-Motor Symptom Scale-NMSS, MoCA, REM sleep behavior disorder symptoms questionnaire) and comorbidity burden (Charlson Comorbidity Index-CCI). These were used as predictor variables. Standardized mortality rates (SMR) were calculated, comparing with the general population. The association between mortality and predictors was tested with univariate and multivariate Cox proportional hazard regression models. Overall and gender-related SMRs were similar to the general population. SMR for pneumonia was five times higher than in the general population. Age, disease duration, CCI, EuroQol, dementia, MoCA, S&E, NMSS Hallucinations, HY, and PIGD motor phenotype were significantly associated with mortality. Adjusting for age, gender and disease duration, S&E remained significantly associated with mortality. In multivariate logistic regression analysis, death was significantly associated with disease duration, CCI and NMSS-mood/cognition scores. PD was not associated with an excess of mortality, but conferred a higher probability of dying from pneumonia. Comorbidity was a major determinant, but disease duration, baseline incapacity, cognition, psychosis, mood complaints and HRQL also contributed significantly to mortality.
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http://dx.doi.org/10.1007/s00702-019-02055-3DOI Listing
November 2019

Identification of diagnostic upper gastrointestinal cancer tissue type-specific urinary biomarkers.

Biomed Rep 2019 Mar 5;10(3):165-174. Epub 2019 Feb 5.

School of Clinical Sciences and Community Health, University of Edinburgh, Edinburgh EH16 4SB, UK.

Several potential urinary biomarkers exhibiting an association with upper gastrointestinal tumour growth have been previously identified, of which S100A6, S100A9, rabenosyn-5 and programmed cell death 6-interacting protein (PDCD6IP) were further validated and found to be upregulated in malignant tumours. The cancer cohort from our previous study was subclassified to assess whether distinct molecular markers can be identified for each individual cancer type using a similar approach. Urine samples from patients with cancers of the stomach, oesophagus, oesophagogastric junction or pancreas were analysed by surface-enhanced laser desorption/ionization-time-of-flight mass spectrometry using both CM10 and IMAC30 (Cu-complexed) chip types and LC-MS/MS-based mass spectrometry after chromatographic enrichment. This was followed by protein identification, pattern matching and validation by western blotting. We found 8 m/z peaks with statistical significance for the four cancer types investigated, of which m/z 2447 and 2577 were identified by pattern matching as fragments of cathepsin-B (CTSB) and cystatin-B (CSTB); both molecules are indicative of pancreatic cancer. Additionally, we observed a potential association of upregulated α-1-antichymotrypsin with pancreatic and gastric cancers, of PDCD6IP, vitelline membrane outer layer protein 1 homolog (VMO1) and triosephosphate isomerase (TPI1) with oesophagogastric junctional cancers, and of complement C4-A, prostatic acid phosphatase, azurocidin and histone-H1 with oesophageal cancer. Furthermore, the potential pancreatic cancer biomarkers CSTB and CTSB were validated independently by western blotting. Therefore, the present study identified two new potential urinary biomarkers that appear to be associated with pancreatic cancer. This may provide a simple, non-invasive screening test for use in the clinical setting.
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http://dx.doi.org/10.3892/br.2019.1190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423495PMC
March 2019

C/VDdb: A multi-omics expression profiling database for a knowledge-driven approach in cardiovascular disease (CVD).

PLoS One 2018 12;13(11):e0207371. Epub 2018 Nov 12.

Institute of Cardiovascular and Medical Sciences, BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom.

The cardiovascular disease (C/VD) database is an integrated and clustered information resource that covers multi-omic studies (microRNA, genomics, proteomics and metabolomics) of cardiovascular-related traits with special emphasis on coronary artery disease (CAD). This resource was built by mining existing literature and public databases and thereafter manual biocuration was performed. To enable integration of omic data from distinct platforms and species, a specific ontology was applied to tie together and harmonise multi-level omic studies based on gene and protein clusters (CluSO) and mapping of orthologous genes (OMAP) across species. CAD continues to be a leading cause of death in the population worldwide, and it is generally thought to be an age-related disease. However, CAD incidence rates are now known to be highly influenced by environmental factors and interactions, in addition to genetic determinants. With the complexity of CAD aetiology, there is a difficulty in research studies to elucidate general elements compared to other cardiovascular diseases. Data from 92 studies, covering 13945 molecular entries (4353 unique molecules) is described, including data descriptors for experimental setup, study design, discovery-validation sample size and associated fold-changes of the differentially expressed molecular features (p-value<0.05). A dedicated interactive web interface, equipped with a multi-parametric search engine, data export and indexing menus are provided for a user-accessible browsing experience. The main aim of this work was the development of a data repository linking clinical information and molecular differential expression in several CVD-related traits from multi-omics studies (genomics, transcriptomics, proteomics and metabolomics). As an example case of how to query and identify data sets within the database framework and concomitantly demonstrate the database utility, we queried CAD-associated studies and performed a systems-level integrative analysis. URL: www.padb.org/cvd.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207371PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231654PMC
April 2019

Deep brain stimulation for lesion-related tremors: A systematic review and meta-analysis.

Parkinsonism Relat Disord 2018 02 13;47:8-14. Epub 2017 Dec 13.

Neurology Department, Hospital Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal; CEDOC, Nova Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal. Electronic address:

Deep brain stimulation (DBS) is an effective treatment for essential tremor or tremor in Parkinson's disease. The effectiveness of DBS in reducing tremors that develop after a structural lesion of the central nervous system (such as Holmes' tremor - HT) has only been addressed in case reports or series. We conducted a systematic review of all published original reports of DBS in central nervous system lesion-related tremor (excluding demyelinating disorders due to their non-static nature). Where available, we extracted data regarding each patient's demographic, tremor and surgical details. Improvement was calculated as a percentage of change in any objective tremor rating scale. We identified 35 publications reporting on 82 patients. The ventral intermedius nucleus(VIM) of the thalamus was the preferred target (63.6%) and 18.2% targeted globus pallidus pars interna(GPi). Median improvement was 77.5% and 71.4% for patients with post-stroke and post-traumatic tremor respectively. Seven subjects (13.5%) had less than 50% improvement. Therapeutic effectiveness was not associated with age, tremor duration, age of onset or follow-up time. A large range of stimulation parameters were used with median voltage, pulse width and frequency values higher for GPi (4.80 V, 105 us, 170 Hz) than for thalamic stimulation (3.0 V, 90 us, 140 Hz). DBS reports for Holmes' and lesional tremors treatment are scarce and highly heterogeneous limiting a proper summary analysis and comparisons. Even facing a probable report bias, a high number of subjects with good long-term tremor control were found. These results should promote the creation of tremor registries before clinical trials.
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http://dx.doi.org/10.1016/j.parkreldis.2017.12.014DOI Listing
February 2018

Phytotoxicity of silver nanoparticles to Lemna minor: Surface coating and exposure period-related effects.

Sci Total Environ 2018 Mar 31;618:1389-1399. Epub 2017 Oct 31.

Departamento de Biologia & CESAM, Universidade de Aveiro, 3810-193 Aveiro, Portugal. Electronic address:

Silver nanoparticles (Ag NPs) exponential production raises concern about their environmental impact. The effects of Ag NPs to aquatic plants remain scarcely studied, especially in extended exposures. This paper aims to evaluate Ag NPs effects in Lemna minor at individual and sub-individual levels, focusing on three variables: Ag form (NPs versus ions - Ag), NPs surface coating (citrate vs polyvinylpyrrolidone - PVP) and exposure period (7 vs 14days). Endpoints were assessed at individual level (specific growth rate, chlorosis incidence and number of fronds per colony) and sub-individual level (enzymatic activities of catalase (CAT), guaiacol peroxidase (GPx) and glutathione-S-transferase (GST)). Generally, plants exposed to all Ag forms underwent decays on growth rate and fronds per colony, and increases on chlorosis, GPX and GST, but no effects on CAT. The most sensitive endpoints were specific growth rate and GPx activity, showing significant effects down to 0.05mg/L for Ag NPs and 3μg/L for Ag, after 14days. Ag showed higher toxicity with a 14d-EC of 0.0037mg Ag/L. Concerning surface coating, PVP-Ag NPs were more deleterious on growth rate and fronds per colony, whereas citrate-Ag NPs affected more the chlorosis incidence and GPx and GST activities. The exposure period significantly affected chlorosis: 14days triggered a chlorosis increase in Ag-exposed plants and a decrease in Ag NPs-exposed plants when compared to 7days. Ag NPs induced an oxidative stress status in cells, thus ensuing upregulated enzymatic activity as a self-defense mechanism. Since Ag NPs dissolution might occur on a steady and continuous mode along time, and the average longevity of fronds, we propose longer exposures periods than the recommended by the OECD guideline. This approach would provide more relevant and holistic evidences on the overall response of freshwater plants to Ag NPs in an ecological relevant scenario.
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http://dx.doi.org/10.1016/j.scitotenv.2017.09.275DOI Listing
March 2018
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