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1.
BMC Neurol ; 24(1): 56, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38321372

RESUMO

BACKGROUND: Parkinson's disease (PD) and vascular parkinsonism (VaP) have highly overlapping phenotypes, and different prognosis. This study comprehensively investigated the clinical, brain MRI and transcranial sonography differences between VaP and PD. METHODS: Forty-eight patients with PD, 27 patients with VaP, and 29 healthy controls were compared. All patients were assessed using the MDS-UPDRS, Berg Balance Scale (BBS), Ten-Meter Walking Test (10-MWT), Time Up and Go Test, and Non-Motor Symptoms Scale. Beck Depression Inventory, PD questionnaire- 39, international urine incontinence scale, cognitive assessment scales, MRI brain and transcranial colour-coded doppler. The study was registered on clinical-Trial.gov (NCT04308135) on 03/12/2020. RESULTS: VaP patients showed significantly older age of onset, shorter disease duration, lower drug doses and levodopa responsiveness, higher On and Off axial scores, On and Off BBS, higher On scores for PIGD, rigidity, bradykinesia and total motor MDS-UPDRS, lower On and Off tremor, lower-half predominance, lower asymmetrical presentation and symmetric index than PD patients. VaP patients had worse non-motor symptoms Scale (NMSS) than controls except for perceptual problems/hallucinations but better symptoms than PD patients except for urinary dysfunction. Quality of life (QoL) was impaired in VaP patients and was correlated with motor function and NMSs. The VaP group had significantly higher white matter lesions and brain atrophy, with lower hyperechogenicity of the substantia nigra and more impaired cerebral vascular resistance and vasoreactivity than the PD group. CONCLUSIONS: VaP has a characteristic motor and non-motor profile, with impaired QoL, white matter, and transcranial sonography abnormalities that differentiate it from PD. Further studies are warranted to explore the role of vascular lesions in the pathogenesis of VaP. TRIAL REGISTRATION: The registered identifier NCT04308135 on clinical-Trial.gov. Registered on 03/12/2020.


Assuntos
Doença de Parkinson , Humanos , Qualidade de Vida/psicologia , Estudos de Casos e Controles , Equilíbrio Postural , Estudos de Tempo e Movimento , Ultrassonografia Doppler Transcraniana
2.
Neurol Sci ; 45(4): 1725-1734, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38376645

RESUMO

BACKGROUND: Zonisamide (ZNS) has shown some efficacy in motor symptoms of PD; however, more evidence is lacking, and its effects on nonmotor symptoms (NMSs) and quality of life (QoL) remain to be investigated. This randomized double-blinded placebo-controlled crossover study investigated the effect of ZNS on motor and NMS symptoms and QoL in advanced PD. METHODS: PD patients with Hoehn and Yahr stage ≥ 2 ("On" state) and at least 2 h off time daily were randomized to groups: ZNS 25 mg, ZNS 50 mg and placebo. Groups were assessed at baseline and at the 1- and 3-month follow-ups. The primary endpoint was the change in the total MDS-UPDRS III "On", while the secondary endpoint was the change in the total and parts I and IV MDS-UPDRS, Nonmotor Symptoms Scale and Parkinson's disease questionnaire-39 at the final assessment. RESULTS: Sixty-nine patients were assessed for efficacy at the 1-month follow-up, and 58 patients were assessed at the 3-month follow-up. The primary endpoint showed significant improvement in the ZNS 25 mg group compared to the placebo group (p = 0.009). At the final assessment, the ZNS 25 mg group showed significant improvement of total and part VI MDS-UPDRS, bradykinesia, tremor and functional impact of fluctuations compared to placebo. There was no change in dyskinesia, NMSs, QoL or side effects except for sedation. CONCLUSION: ZNS has a favourable effect on motor symptoms in patients with wearing off as adjunctive therapy with other dopaminergic drugs, with no exacerbation of dyskinesia and a limited impact on NMSs and QoL. TRIAL REGISTRATION: Clinicaltrials.gov, NCT04182399, in 24/11/2019.


Assuntos
Doença de Parkinson , Humanos , Zonisamida/uso terapêutico , Doença de Parkinson/complicações , Qualidade de Vida , Estudos Cross-Over , Tremor/complicações
3.
Arch Microbiol ; 204(8): 537, 2022 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-35913539

RESUMO

This study was designed to evaluate the antimicrobial, antioxidant, and cytotoxic potentials of the marine actinomycetes spp. isolated from the Red Sea water, Hurghada, Egypt. Out of 80 actinomycetes isolates, one isolate AW6 was selected based on its antioxidant activity (IC50 about 5.24 µg/mL which scavenged 91% of formed DPPH free radicals) and antimicrobial potential against E. coli, S. aureus, B. subtilis, and P. aeruginosa, A. niger, and C. albicans. The strain was identified based on phenotypic and genotypic analysis, and deposited in the GenBank with accession number OK090864.1. Cultivation of the selected strain on rice, chromatographic purification, and structural elucidation led to the isolation of two compounds C1: umbelliferone, and C2: 1-methoxy-3-methyl-8-hydroxy-anthraquinone. The antimicrobial activity of the obtained compounds showed that C1 and C2 have low antibacterial activity toward S. aureus and E. coli with no pronounced activity toward P. aeruginosa, C. albicans, and A. niger. Additionally, the antioxidant activity of C1 and C2 revealed that C2 has a good antioxidant activity, with DPPH scavenging activity reaching (55.25%), followed by C1 (30.20%). Moreover, both compounds displayed anti-Gyr-B enzyme activity with IC50 value of (3.79 ± 0.21 µM) for C1, and (IC50 = 13 ± 0.71 µM) for C2. The ADME-related physicochemical properties of the obtained compound were predicted using SwissADME web tools and the ProToxii webserver was used to estimate in silico toxicity.


Assuntos
Anti-Infecciosos , Staphylococcus aureus , Actinomyces , Antibacterianos/química , Anti-Infecciosos/química , Antioxidantes/química , Antioxidantes/farmacologia , Candida albicans , Escherichia coli/genética , Escherichia coli/metabolismo , Pseudomonas aeruginosa/metabolismo , Staphylococcus aureus/metabolismo
4.
Neurol Sci ; 43(2): 799-809, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34787754

RESUMO

COVID-19 is a pandemic disease which predominantly affects the respiratory system with high critical care mortality and morbidity; however, it also causes multi-organ dysfunction in a subset of patients. Although causality between COVID-19 and mucormycosis remains unclear, many factors including glucocorticoids, worsening of blood glucose control, and viral-induced lymphopenia have been attributed to cause mucormycosis in patients with COVID-19. In COVID-19 patients, especially those who need oxygen support, inflammatory and cytokine storm or usage of steroids make the immune system weak. This may pave the way for opportunistic infections including mucormycosis. We report fourteen cases of COVID-19 infection, who developed rhino-orbito-cerebral mucormycosis, during treatment. Early recognition of this life-threatening infection is the key to allow for optimal treatment and improved outcomes.


Assuntos
COVID-19 , Mucormicose , Doenças Orbitárias , Antifúngicos/uso terapêutico , Egito , Humanos , Mucormicose/diagnóstico , Mucormicose/tratamento farmacológico , Doenças Orbitárias/tratamento farmacológico , SARS-CoV-2 , Centros de Atenção Terciária
5.
Int J Neurosci ; 132(5): 429-433, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-32886009

RESUMO

BACKGROUND: Further reports are required to describe the outcome of truncal dystonia treated by bilateral pallidal stimulation (globus pallidus interna deep brain stimulation [GPi-DBS]), owing to the small number of reports and clinical variability and complexity of truncal dystonia. Retrospectively, we report our experience of treating three patients with idiopathic generalized dystonia, with predominant mobile truncal dystonia by bilateral GPi-DBS. METHODS: Three patients with idiopathic generalized dystonia underwent bilateral GPi-DBS. One patient had adult-onset dystonia, while two patients had childhood-onset dystonia. All patients had predominant mobile truncal dystonia of mixed abnormal postures (camptocormia and lateral tilt), while one patient had also truncal twist. Patients were assessed pre- and post-GPi-DBS using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS). RESULTS: The three patients showed marked improvement of global (94.78%, 92.4% and 80.95%) and truncal BFMDRS (all abnormal postures) (87.5%, 93.75% and 87.5%) and DDS (95.84% and 50%), using high amplitude monopolar settings, with a dramatic improvement of the mobile component. Improvement was persistent for 1.5, 3 and 6 years. CONCLUSION: Bilateral GPi-DBS improves markedly the mobile truncal dystonia and associated abnormal postures in patients with adult and childhood-onset idiopathic generalized dystonia. Improvement was persistent for up to 6 years.


Assuntos
Estimulação Encefálica Profunda , Distonia , Distúrbios Distônicos , Transtornos dos Movimentos , Adulto , Criança , Distonia/terapia , Distúrbios Distônicos/terapia , Globo Pálido/fisiologia , Humanos , Estudos Retrospectivos , Resultado do Tratamento
6.
Mov Disord ; 36(10): 2393-2407, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34080713

RESUMO

BACKGROUND: The growing burden of Parkinson's disease (PD) in Africa necessitates the identification of available therapies and services to improve patient care. OBJECTIVE: To investigate the availability, affordability, frequency of usage, and insurance coverage of PD therapies (pharmacological, surgical, physical, and speech therapies) and services including specialized clinics, specialists, and nurses across Africa. METHODS: A comprehensive web-based survey was constructed and distributed to neurologists/physicians with a special interest in PD across Africa. The survey instrument includes components that address availability, affordability, frequency of use, and insurance coverage of different therapies and services. RESULTS: Responses were received from 28 (of 43 contacted) countries. Levodopa-based oral preparations were always available in 13 countries (46.4%) with variable affordability and "partial or no" insurance coverage in 60% of countries. Bromocriptine was the most available (50%) and affordable ergot dopamine agonists (DA), whereas non-ergot DA was always available in only six countries (21.4%). Trihexyphenidyl was the most available and affordable anticholinergic drug (46.4%). Tricyclic antidepressants and selective serotonin reuptake inhibitors were available in most countries (89.3% and 85.7% respectively), with variable affordability. Quetiapine and clozapine were less available. Specialized clinics and nurses were available in 25% and 7.1% of countries surveyed, respectively. Other services were largely unavailable in the countries surveyed. CONCLUSION: PD-specific therapies and services are largely unavailable and unaffordable in most African countries. The data provide a platform for organizing strategies to initiate or scale up existing services and drive policies aimed at improving access to care and tailoring education programs in Africa. © 2021 International Parkinson and Movement Disorder Society.


Assuntos
Doença de Parkinson , África , Agonistas de Dopamina , Humanos , Levodopa , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/epidemiologia , Inquéritos e Questionários
7.
Neurol Sci ; 41(8): 2201-2206, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32172403

RESUMO

BACKGROUND: Sexual dysfunction (SD) is a common, yet under-reported, non-motor symptom (NMS) of Parkinson's disease (PD). The present study investigated the sexual functions in PD male patients, its correlation with motor and other NMSs, and their impact on health-related quality of life (HRQoL). METHODS: The sexual functions of 40 PD male patients were assessed using the International Index of Erectile Function (IIEF) and compared to 25 healthy age-matched controls. Patients were evaluated using the NMS Scale (NMSS) and the Arabic version of the Parkinson's-Disease Questionnaire (PDQ-39). We compared the sexual functions of younger (≤ 55 years) and elder (> 55 years) males and tested the correlations between sexual functions and motor, other NMSs, and HRQoL. RESULTS: Seventy percent of PD male patients reported erectile dysfunction. They showed significantly worse total (p < 0.001) and subscores of IIEF, compared to healthy controls. The total IIEF was inversely correlated to age of patients (p = 0.013), age at onset (p = 0.043), total, cognitive/mood, gastrointestinal and urinary domains of NMSS, and the cognitive domain of PDQ-39 (p = 0.013). Age was the main predictor (ß = - 0.581, p = 0.006) of SD. Elder patients showed worse sexual functions, stronger correlations to other NMSs, and more impact on HRQoL than younger patients. CONCLUSION: Sexual functions are worse among PD male patients with age as the main predictor. SD was associated with worse cognitive/mood and urinary domains of NMSS and has a negative impact on the patients' HRQoL among elder males.


Assuntos
Doença de Parkinson , Disfunções Sexuais Fisiológicas , Idade de Início , Idoso , Humanos , Masculino , Doença de Parkinson/complicações , Doença de Parkinson/epidemiologia , Qualidade de Vida , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/etiologia , Inquéritos e Questionários
11.
Biomed Rep ; 21(1): 108, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38868525

RESUMO

There is no definite biomarker for confirming the diagnosis of essential tremor (ET) or differentiating it from other diseases, particularly Parkinson's disease. The present study aimed to investigate the serum levels of the α-synuclein protein (α-syn) and its autoantibodies in patients with ET compared with healthy controls and its relation to motor and non-motor symptoms in patients with ET. Serum α-syn and its autoantibodies were measured in 32 patients with ET and 32 age- and sex-matched controls. Both groups were assessed using the non-motor symptoms scale, MoCA, Beck Depression Inventory, Hamilton Anxiety Rating Scale, and the Short Form 36 Health Survey Questionnaire. Tremor was assessed using the Fahn-Tolosa-Marin Tremor Rating Scale. The serum α-syn concentration in patients with ET was significantly lower than that in healthy controls (P<0.001), with a positive predictive value of 0.81 and a negative predictive value of 0.75, while the serum anti-a-syn autoantibody concentration was not significantly different between the two groups. There were no correlations between serum α-syn or its autoantibodies and patients' clinical characteristics. Furthermore, patients with ET had worse cognitive impairment, depression, anxiety, non-motor symptoms and quality of life. The serum α-syn concentration was lower in patients with ET than in controls, with favorable predictive values, suggesting that it could serve as a biomarker for ET diagnosis.

12.
J Int Med Res ; 52(5): 3000605241249095, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38726874

RESUMO

OBJECTIVE: To evaluate otolithic functions in patients with residual dizziness after successful canalith repositioning procedures (CRPs) for unilateral posterior canal benign paroxysmal positional vertigo (BPPV), and to investigate possible risk factors. METHODS: This case-control observational study included healthy controls and patients with residual dizziness after improvement following CRP for BPPV. All participants were subjected to full history taking, otoscopy, audiological basic evaluation, Dix-Hallpike test to search for posterior canal BPPV, residual dizziness screening, and vestibular evoked myogenic potential (VEMP) testing. Between-group differences were assessed and possible factors associated with residual dizziness were identified by univariate analysis. RESULTS: A total of 50 patients with residual dizziness (mean age, 56.53 ± 7.46 years [29 female: 21 male]) and 50 healthy controls (mean age, 58.13 ± 7.57 years [20 female: 30 male]) were included. A significant difference in VEMP latencies was found between the patient and control group (delayed in the patient group), with no significant between-group difference in amplitude in both ears. Aging, female sex, long duration of BPPV, number of CRPs, cervical VEMP and ocular VEMP abnormalities, and winter onset, were significantly associated with the risk of residual dizziness. CONCLUSIONS: Residual dizziness is a frequent sequel of BPPV that may relate to otolithic dysfunction. VEMP changes were revealed in the form of delayed latencies.


Assuntos
Vertigem Posicional Paroxística Benigna , Tontura , Membrana dos Otólitos , Potenciais Evocados Miogênicos Vestibulares , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Vertigem Posicional Paroxística Benigna/fisiopatologia , Vertigem Posicional Paroxística Benigna/diagnóstico , Vertigem Posicional Paroxística Benigna/terapia , Membrana dos Otólitos/fisiopatologia , Estudos de Casos e Controles , Tontura/fisiopatologia , Tontura/etiologia , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Idoso , Posicionamento do Paciente/métodos
13.
J Mov Disord ; 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38915261

RESUMO

Objective: Pain is one of the most common non-motor symptoms in Parkinson's disease (PD), with variable characteristics among populations. This multicenter Egyptian study aimed to translate and validate the King's Parkinson's Disease Pain Scale (KPPS) and questionnaire (KPPQ) into Arabic versions and to investigate the pain characteristics in Egyptian people with PD (PWP). Methods: 192 PWP and 100 sex and age-matched controls were evaluated by KPPS-Arabic and KPPQ-Arabic. Both tools were assessed for test-retest reliability, floor or ceiling effects, construct validity and convert validity. PWP were assessed also by MDS-UPDRS, Hoehn and Yahr, NMSS, PD Questionnaire-39, and the Non-Motor Fluctuation Assessment (NoMoFA). Results: KPPS-Arabic and KPPQ-Arabic showed inter and intra-rater consistency and high validity, with an acceptable ceiling effect. 188 PWP (97.9%) reported at least 1 type of pain, (p<0.001). The severity and prevalence of KPPS-Arabic domains were significantly higher in all pain domains among PWP compared to controls (p < 0.001). Fluctuation-related and musculoskeletal pains were the most common (81.3% and 80.7%, respectively). In the PD group, the total and domains of KPPS-Arabic were significantly correlated to the MDS-UPDRS total, parts I, II, III, PIGD, axial, and H &Y scores, but not age or age of onset. Predictors of KPPS-Arabic included the total MDS-UPDRS, part III-Off, disease duration, total NMSS, and NoMoFA. Conclusion: The current multicentre study provided a validated Arabic versions of KPPS and KPPQ, with high reliability and validity, and demonstrated a high prevalence and severity of pain within Egyptian PWP and characterized its determinants.

14.
Mov Disord Clin Pract ; 10(7): 1099-1106, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37476314

RESUMO

Background: Little is known about the prevalence and clinical characteristics of tremors in patients with multiple sclerosis (MS), their associated clinical disability, and their impact on quality of life (QoL). Objective: This study aimed to investigate the frequency and types of tremors in patients with relapsing remitting MS (RRMS) in remission, and their impact on patients' QoL. Methods: A total of 250 patients with RRMS in remission were examined for tremors. All patients were assessed using the Expanded Disability Status Scale (EDSS). Patients with tremors underwent further assessment using the Fahn-Tolosa-Marin Tremor Rating Scale (FTMTRS), the Beck Depression Inventory (BDI), the Montreal Cognitive Assessment (MoCA) scale, and the Short Form 36 Health Survey Questionnaire (SF-36). Brain MRI was obtained for a subgroup of patients. Results: Tremors were detected in 36 patients (14.4%) and were associated with significantly worse EDSS scores, BDI (P = 0.021), MoCA, most SF-36 domains, higher total and last year relapses (P < 0.001) and longer disease duration (P = 0.027). Patients with tremors showed higher lesion load (P = 0.007), more infratentorial (P ≤ 0.001), cerebellar and diencephalic lesions (P = 0.024), and cortical atrophy (P = 0.012). Total FTMTRS was significantly correlated to age, EDSS, and physical functioning. Dystonia was associated with tremors in 17 patients (6.8% of total RRMS patients and 47.2% of patients with tremors). Conclusion: The current study confirms the common occurrence of tremors and their subtypes among patients with RRMS with mild disability and demonstrates their association with increased disability and impaired QoL.

15.
Sci Rep ; 13(1): 22925, 2023 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-38129486

RESUMO

Despite the enormous health burden of lacunar stroke, data from low- and middle-income countries on lacunar stroke characteristics and its comparison with that of high-income countries are scarce. Thus, we aimed to investigate and compare the variable characteristics and vascular status in patients from Egypt and Germany suffering lacunar stroke. Two cohorts of lacunar stroke patients from Ain Shams University Hospital, Egypt and Goethe University Hospital Frankfurt, Germany were retrospectively collected between January 2019 and December 2020 and analyzed for demographics, risk factors, mode of presentation, neuroimaging features, treatment protocols and outcomes. MRI showed a different distribution pattern of lacunar strokes between cohorts, detecting posterior circulation lacunar infarctions preponderantly in patients from Egypt and anterior circulation lacunar infarctions preponderantly in patients from Germany. Complementary MR/CT angiography revealed a significantly higher proportion of intracranial and combined intracranial and extracranial arterial stenosis in patients from Egypt than in patients from Germany, suggesting differences in pathological processes. Younger age, higher NIHSS on admission, and posterior circulation lacunar infarction were predictors of Egyptian origin, whereas hypertension was a predictor of German origin. Our results support the idea of clinical and neuroimaging phenotype variations in lacunar stroke, including different sources of lacunar stroke in patients of different populations and geographical regions. This implies that guidelines for management of lacunar stroke might be tailored to these differences accordingly.


Assuntos
Hipertensão , Acidente Vascular Cerebral Lacunar , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral Lacunar/diagnóstico por imagem , Acidente Vascular Cerebral Lacunar/epidemiologia , Egito/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/epidemiologia
16.
Artigo em Inglês | MEDLINE | ID: mdl-35068922

RESUMO

BACKGROUND: Clinical progression of Parkinson's disease (PD) is highly heterogeneous, and its predictors are generally lacking. Identifying predictors of early disease progression is important for patients' management and follow-up. The current study aims to identify clinical, neuroimaging and biochemical baseline predictors of motor progression in patients with PD. Forty-five PD patients were assessed at baseline, 6 months and 1 year using MDS-UPDRS total and subscores, Hoehn and Yahr (H&Y), Schwab and England (S&E), International Physical Activity Questionnaire (IPAQ). Baseline New Freezing of Gait Questionnaire (NFOG-Q), Berg Balance Scale (BBS), Ten-Meter Walking Test (10-MWT), and Time Up and Go Test (TUG), Non-Motor Symptoms Scale (NMSS), Beck Depression Inventory (BDI), PD questionnaire 39 (PDQ-39), MRI brain, uric acid, lipid profile and glycated hemoglobin were performed. RESULTS: Significant worsening of MDS-UPDRS total, part III scores, H&Y, S&E and IPAQ (p < 0.001) was detected. One-year progression of H&Y and S&E were significantly correlated to disease duration (p = 0.014, p = 0.025, respectively). Progression of H&Y was correlated to baseline TUG (p = 0.035). S&E progression was correlated to baseline MDS-UPDRS total score (rho = 0.478, p = 0.001) and part III (rho = 0.350, p = 0.020), H&Y (rho = 0.401, p = 0.007), PIGD (rho = 0.591, p < 0.001), NFOG-Q (rho = 0.498, p = 0.001), and TUG (rho = 0.565, p = 0.001). Using linear regression, there was no predictors of clinical progression among the used baseline variables. CONCLUSION: Despite the significant motor and physical activity progression over 1 year that was correlated to baseline motor and gait severity, but without predictive value, further similar and longitudinal studies are warranted to detect predictors of early progression and confirm findings. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s41983-022-00445-1.

17.
NPJ Parkinsons Dis ; 8(1): 111, 2022 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-36045133

RESUMO

Further studies are required to investigate the impact of the COVID-19 pandemic on Parkinson's disease (PD) progression. This study investigated the motor and non-motor progression of people with PD (PWP) at 6 months during the COVID-19 pandemic compared with that during the pre-pandemic period. Patients were recruited from Ain Shams University Hospitals, Cairo, in the period between April 2019 and December 2020. Fifty patients were included, of whom 17 and 33 patients were followed for 6 months before and during the pandemic, respectively. All patients were assessed at baseline and at 6 months using the MDS-UPDRS, Schwab and England scale (S&E), Hoehn and Yahr scale (H&Y), Berg Balance Scale, Timed Up and Go test (TUG), International Physical Activity Questionnaire, New Freezing of Gait Questionnaire, Non-Motor Symptoms Scale, and Beck Depression Inventory (BDI). Both groups were matched in age, gender, and disease characteristics. Patients followed during the pandemic showed more significant worsening of the total, part I and motor part of MDS-UPDRS, and balance scores (p < 0.001) than those followed during the pre-COVID-19 period. Gait (TUG), balance, and physical activity worsening were significantly correlated with baseline BDI, gait and balance scores, total and part I MDS-UPDRS scores, H&Y, and S&E OFF scores. Gait deterioration (TUG) was correlated with baseline physical activity (r = -0.510, p = 0.002). PWP showed worsening of motor and non-motor symptoms during the COVID-19 pandemic at the 6-month follow-up. Worsening of gait, balance, and physical activity was correlated with baseline motor and physical activity OFF scores.

18.
PLoS One ; 17(10): e0275195, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36201724

RESUMO

Plasmodium falciparum is a parasitic protozoan that can cause malaria, which is a deadly disease. Therefore, the accurate identification of malaria parasite mitochondrial proteins is essential for understanding their functions and identifying novel drug targets. For classifying protein sequences, several adaptive statistical techniques have been devised. Despite significant gains, prediction performance is still constrained by the lack of appropriate feature descriptors and learning strategies in current systems. Moreover, good ground truth data is important for Artificial Intelligence (AI)-based models but there is a lack of that data in the literature. Therefore, in this work, we propose a novel hybrid network that combines 1D Convolutional Neural Network (CNN) and Bidirectional Gated Recurrent Unit (BGRU) to classify the malaria parasite mitochondrial proteins. Furthermore, we curate a sequential data that are collected from National Center for Biotechnology Information (NCBI) and UniProtKB/Swiss-Prot proteins databanks to prepare a dataset that can be used by the research community for AI-based algorithms evaluation. We obtain 4204 cases after preprocessing of the collected data and denote this set of proteins as PF4204. Finally, we conduct an ablation study on several conventional and deep models using PF4204 and the benchmark PF2095 datasets. The proposed model 'CNN-BGRU' obtains the accuracy values of 0.9096 and 0.9857 on PF4204 and PF2095 datasets, respectively. In addition, the CNN-BGRU is compared with state-of-the-arts, where the results illustrate that it can extract robust features and identify proteins accurately.


Assuntos
Aprendizado Profundo , Malária , Parasitos , Algoritmos , Animais , Inteligência Artificial , Humanos , Proteínas Mitocondriais/genética , Proteínas Mitocondriais/metabolismo , Parasitos/metabolismo , Plasmodium falciparum/genética , Plasmodium falciparum/metabolismo
19.
Artigo em Inglês | MEDLINE | ID: mdl-34815247

RESUMO

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.


Assuntos
Infecções por Citomegalovirus , Miosina Tipo V , Infecções por Citomegalovirus/metabolismo , Humanos , Síndromes de Malabsorção , Microvilosidades/genética , Microvilosidades/metabolismo , Microvilosidades/patologia , Mucolipidoses , Mutação , Cadeias Pesadas de Miosina/genética , Miosina Tipo V/genética , Miosina Tipo V/metabolismo , Miosinas/genética , Síria
20.
Children (Basel) ; 9(11)2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36360382

RESUMO

OBJECTIVES: the aim of this study was to describe the genetic and clinical features of familial Mediterranean fever (FMF) in a group of Egyptian children. MATERIALS AND METHODS: This cross-sectional observational study included 65 children diagnosed with FMF according to the (Eurofever/PRINTO) classification criteria. The complete blood count (CBC), and acute phase reactants such as Serum amyloid A (SAA), and C-reactive protein (CRP) were all measured during the febrile episode. Mutation analysis for the MEFV gene was carried out for all subjects. RESULTS: A total of 65 patients with FMF were included in the study. The first clinical manifestation was recurrent fever in all patients. Recurrent oral lesions accompanied fever in 63% of cases, abdominal pain in 31%, and musculoskeletal pain in 6%. The mean SAA level was 162.5 ± 85.78 mg/L. MEFV mutations were detected in 56 patients (86%). Among these patients, 6 (10.7%) were homozygous, while 44 (78.6%) were heterozygous. The most frequently observed mutation was E148Q 24 (37.5%), followed by M694I 18 (32.1%), and V726A 13 (20.3%). Half of the patients with oral lesions were E148Q positive, however abdominal pain was found to be higher in the patients with the M694I mutation. CONCLUSION: Recurrent fever with oral lesions could be an important atypical presentation of FMF in Egyptian children that should not be ignored and/or missed.

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