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1.
Neurol Int ; 15(2): 750-763, 2023 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-37368331

RESUMEN

(1) Background: Parkinson's disease (PD) is a relatively common and complex pathology, and some of its mechanisms remain to be elucidated. Change in host microbiota is related to the pathophysiology of numerous diseases. This systematic review aims to gather existing data on the occidental hemisphere, compare it, and search for any significant association between Parkinson's disease and gut microbiota dysbiosis. (2) Methods: Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) and Meta-analyses Of Observational Studies in Epidemiology (MOOSE) protocols were used for this systematic review. PubMed was used as the database search engine. Of the 166 studies found, only 10 were used, as they met our inclusion criteria: case-control studies, studies that assessed the correlation of PD and gut microbiome, studies that took place in occidental regions, and studies that were performed on humans and were written in English. The Newcastle-Ottawa Scale was used as the assessment tool for overall risk of bias in this systematic review. (3) Results: The studies analyzed were divided into three geographic areas: Region 1: United States of America and Canada; Region 2: Germany, Ireland, and Finland; and Region 3: Italy; based on geographical similarities among these populations. The following statistically significant results were described in PD patients, compared with non-PD controls. In the first region, a significant increase in the following bacteria was seen: 1. Phylum: Actinobacteriota and its Genus: Bifidobacterium; 2. Phylum: Verrucomicrobiota and its Genus: Akkermansia; 3. Genus: Enterococcus, Hungatella, Lactobacillus, and Oscillospira of the Phylum: Firmicutes; 4. Family: Ruminococcaceae of Phylum: Firmicutes; 5. Phylum: Bacteroidetes and its Genus: Bacteroides; 6. Phylum: Proteobacteria. A significant decrease was described in the Family: Lachnospiraceae and its Genus: Blautia, Coprococcus, and Roseburia, which belong to the Phylum: Firmicutes. In the second region, a raised number of: 1. Phylum: Verrucomicrobiota, its Genus: Akkermansia, and its Species: Akkermansia muciniphila; 2. Family: Verrucomicrobiaceae of the Phylum: Verrucomicrobiota; 3. Genus: Lactobacillus and Roseburia of the Phylum: Firmicutes; 4. Family: Lactobacillaceae of the Phylum: Firmicutes; 5. Family: Barnesiellaceae of the Phylum: Bacteroidetes; 6. Genus: Bifidobacterium of the Phylum: Actinobacteriota; 7. Species: Bilophila wadsworthia of the Phylum: Thermodesulfobacteriota, was identified. Only one Genus: Prevotella of the Phylum: Bacteroidetes was decreased. In the third and last region, an augmented number of these bacteria were found: 1. Phylum: Verrucomicrobiota and its Genus: Akkermansia; 2. Family: Bifidobacteriaceae and Coriobacteriaceae of the Phylum: Actinobacteriota; 3. Phylum: Firmicutes and its Family: Christensenellaceae and Lactobacillaceae; 4. Family: Enterococcaceae and its Genus: Enterococcus, of the Phylum: Firmicutes; 5. Genus: Lactococcus and Oscillospira, of the Phylum: Firmicutes; 6. Phylum: Proteobacteria, its Family: Enterobacteriaceae, and the Genus: Citrobacter, Klebsiella, Salmonella, and Shigella; 7. Genus: ParaBacteroides of the Phylum: Bacteroidetes. In contrast, a significant decrease in 1. Phylum: Firmicutes, its Family: Lachnospiraceae, and its Genus: Roseburia and 2. Genus: Ruminococcus of the Phylum: Firmicutes, was described. (4) Conclusion: A significant gut dysbiosis, involving multiple bacterial taxa, was found in PD patients compared to healthy people in the occidental regions. However, more studies are needed to find the precise pathophysiologic involvement of other groups of pathogens, such as fungi and parasites, in the development and progression of PD.

2.
Neurol Int ; 14(4): 997-1006, 2022 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-36548184

RESUMEN

BACKGROUND: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests. We aimed to assess the utility of imaging equipment, usually more available worldwide, to help diagnose and improve patients' quality of life with these diseases. METHODS: We performed a systematic literature review in English using the preferred reporting items for systematic reviews and meta-analyses (PRISMA) and meta-analysis of observational studies in epidemiology (MOOSE) protocols. We only used human clinical trials about dopamine responsive dystonia and juvenile parkinsonism patients in which a fluorodopa (FD) positron emission tomography (PET) scan was performed to identify its use in these diseases. RESULTS: We included six studies that fulfilled our criteria. We found a clear pattern of decreased uptake in the putamen and caudate nucleus in JP cases. At the same time, the results in DRD were comparable to normal subjects, with only a slightly decreased marker uptake in the previously mentioned regions by the FD PET scan. CONCLUSIONS: We found a distinctive pattern for each of these diseases. Identifying these findings with FD PET scans can shorten the delay in making a definitive diagnosis when genetic testing is unavailable, a common scenario in developing countries.

3.
Cureus ; 14(7): e27029, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35989745

RESUMEN

Alien limb phenomenon (ALP) is a clinical finding seen in numerous neurological disorders, including Creutzfeldt-Jakob disease (CJD). We aimed to conduct a systematic review to update advances in understanding the classification and pathophysiology of ALP in CJD. We used PubMed advanced-strategy searches and only included full-text observational studies and case reports conducted on humans and written in English. We used the PRISMA protocol for this systematic review and the Methodological Quality of Case Reports tool to assess the bias encountered in each study. After applying the inclusion/exclusion criteria, 10 case reports were reviewed. Two independent reviewers analyzed data and confirmed the phenotype of each case of the alien limb in CJD separately. Overall, the most prevalent ALP phenotype presenting in patients with CJD was the posterior phenotype, usually in the early stages of the disease. Our findings corroborate previous research in demonstrating the pathophysiology behind ALP in CJD. We suggest physicians suspect CJD whenever patients present with ALP as the initial symptom.

4.
Brain Sci ; 12(8)2022 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-36009103

RESUMEN

Ataxia is a constellation of symptoms that involves a lack of coordination, imbalance, and difficulty walking. Hereditary ataxia occurs when a person is born with defective genes, and this degenerative disorder may progress for several years. There is no effective cure for ataxia, so we need to search for new treatments. Recently, interest in riluzole in the treatment of ataxia has emerged. We conducted this systematic review to analyze the safety and efficacy of riluzole for treating hereditary ataxia in recent clinical trials. We conducted a systematic review using PubMed and Google Scholar as databases in search of this relationship. We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analysis of Observational Studies in Epidemiology (MOOSE) protocols to conduct this study. For inclusion criteria, we included full-text clinical trials on humans written in English and found three clinical trials. We excluded case reports, literature reviews, systematic reviews, and meta-analyses for this analysis. We aimed to evaluate the Scale for the Assessment and Rating of Ataxia (SARA) score, the International Cooperative Ataxia Rating Scale (ICARS) score, and the safety of the medication. Two out of the three clinical trials showed statistically significant clinical improvement in the ICARS and SARA scores, while the other trial did not show improvement in the clinical or radiological outcomes. The drug was safe in all clinical trials. Overall, the results of this analysis of riluzole for the treatment of hereditary ataxia are encouraging. Further clinical trials are needed to investigate the efficacy of riluzole on hereditary ataxia.

5.
Cureus ; 14(7): e27154, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36004035

RESUMEN

Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations. There is no consensus on the treatment of PCDH19. We conducted a literature review to investigate the main drugs used for this syndrome, and to evaluate the best possible course of adjuvant treatment for these patients. We used an advanced PubMed search strategy with the following inclusion criteria: a) full-text papers, b) English Language, and c) studies conducted in humans. Exclusion criteria: a) literature reviews, b) systematic reviews, and c) metanalysis. We gathered 26 observational papers to conduct this literature review on clobazam and bromide which have been shown to reduce seizures by 50%. Corticosteroids improved neurological symptoms during the episodes in a few patients. Nevertheless, they recurred after a few months. Preliminary results of ganaxolone, which is still under study, demonstrated a reduction of 60% in seizure episodes. A ketogenic diet has been studied to treat several refractory epilepsies, including PCDH19; it has promising results as effective adjuvant therapy in the resolution of status epilepticus, suggesting it could be used as part of the treatment in early childhood. Stiripentol was given as adjuvant therapy in a patient with PCDH19 epilepsy resulting in the most extended period of seizure-free episodes, but more studies must be performed to assess its efficacy.

6.
Cureus ; 14(6): e25808, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35822151

RESUMEN

PCDH19 syndrome is a monogenic epilepsy related to the protein protocadherin-19 (PCDH19) gene, which encodes for a protein important for brain development. The protein also seems to regulate gamma-aminobutyric acid type A receptors (GABA(A)(R)). The disease presents with refractory epilepsy that is characterized by seizures occurring in clusters. Till now, the pathophysiology of the disease is mainly unknown, so we conducted a literature review to elucidate the pathophysiology of PCDH19-related epilepsy. We used two databases to investigate this literature review (Google Scholar and PubMed). We selected full-text papers that are published in the English language and published after the year 2000. We selected initially 64 papers and ended up with 29 to conduct this literature review. We found four main theories for the pathophysiology of PCDH19-related epilepsy: GABA(A)(R) dysregulation, blood-brain barrier (BBB) dysfunction, cellular interference, and the AKR1C1-3 gene product deficiency. GABA(A)(R) dysfunction and expression cause decreased effective inhibitory currents predisposing patients to epilepsy. BBB dysfunction allows the passage of methyl-D-aspartate (NMDA)-type glutamate receptor antibodies (abs-NR) through the BBB susceptible membrane. The cellular interference hypothesis establishes that the mutant and non-mutant cells interfere with each other's communication within the same tissue. Women are more susceptible to being affected by this hypothesis as men only have one copy of the x gene and interference is mediated by this gene, meaning that it cannot occur in them. Finally, downregulation and deficiency of the AKR1C3/AKR1C2 products lead to decreasing levels of allopregnanolone, which diminish the regulation of GABA(A)(R).

7.
Cureus ; 14(4): e24529, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35651458

RESUMEN

Stroke is a leading cause of death and disability, especially in certain ethnic groups. Impaired consciousness is a common outcome in stroke patients, serving as a predictor of prognosis and mortality. Lately, there has been increased interest in drugs such as Levodopa (LD), which have been found to promote wakefulness. To further appreciate this association, we gathered updated evidence of this novel therapeutic approach and compared it, evaluating its clinical use in an acute stroke setting. We carried out a systematic review of clinical trials conducted exclusively on stroke patients who received levodopa. Four clinical trials were reviewed and analyzed after applying the inclusion/exclusion criteria. The use of levodopa showed positive results in four of the clinical trials, and statistically significant results in 3/4 of the studies; however, more studies need to be conducted to corroborate these results.

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