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European Journal of Neurology Dec 2022
Topics: Humans; COVID-19; Muscular Diseases; Electromyography
PubMed: 35971870
DOI: 10.1111/ene.15525 -
Revista de NeurologiaThe main function of ionic channels are the conduction, recognition and selection of specific ions. They open and close in respond answer to electrical, mechanical and... (Review)
Review
INTRODUCTION
The main function of ionic channels are the conduction, recognition and selection of specific ions. They open and close in respond answer to electrical, mechanical and chemical stimulus, acting in the excitation or transmission of diverse tissues.
DEVELOPMENT
The clinical and molecular manifestations of channelophathies are varied and use to shown up in continuous or paroxystic ways. Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like Lambert Eaton syndrome, amyotrophic lateral sclerosis, Central Core disease, malignant hyperthermia. Cl and Na channels alterations produce myotonic diseases: Thomsen, Becker and paramyothonies, potassium sensible paralysis, fluctuant congenital myotonic, Andersen s syndrome. Channelopathies also produce various episodic ataxia type 1, type 2, spinocerebellar 6 and familial hemiplegic migraine. Abnormal paroxystic movements are present as channelophaties: episodic nocturnal dystonia, paroxystic dyskinesia. In some families are associates abnormal episodic movements and epilepsy. Several epileptic syndromes are also related with channels dysfunction: frontal lobe nocturnal epilepsy, choreoatetosis epilepsy, benign neonatal convulsions, generalized epilepsy with febrile convulsions plus.
CONCLUSIONS
Voltage gated channels dysfunction are related to diseases with episodic phenomena or permanent conditions on muscle or neuronal tissues, with clinical and genetic heterogenous manifestations.
Topics: Humans; Ion Channels; Migraine Disorders; Movement Disorders; Muscles; Nervous System Diseases; Neurons; Periodicity
PubMed: 11784953
DOI: No ID Found -
JAAD Case Reports Aug 2023
PubMed: 37555193
DOI: 10.1016/j.jdcr.2023.06.003 -
Frontiers in Oncology 2023Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, , , or . Somatic second hits in tumors cause...
INTRODUCTION
Lynch syndrome-associated cancer develops due to germline pathogenic variants in one of the mismatch repair (MMR) genes, , , or . Somatic second hits in tumors cause MMR deficiency, testing for which is used to screen for Lynch syndrome in colorectal cancer and to guide selection for immunotherapy. Both MMR protein immunohistochemistry and microsatellite instability (MSI) analysis can be used. However, concordance between methods can vary for different tumor types. Therefore, we aimed to compare methods of MMR deficiency testing in Lynch syndrome-associated urothelial cancers.
METHODS
Ninety-seven urothelial (61 upper tract and 28 bladder) tumors diagnosed from 1980 to 2017 in carriers of Lynch syndrome-associated pathogenic MMR variants and their first-degree relatives (FDR) were analyzed by MMR protein immunohistochemistry, the MSI Analysis System v1.2 (Promega), and an amplicon sequencing-based MSI assay. Two sets of MSI markers were used in sequencing-based MSI analysis: a panel of 24 and 54 markers developed for colorectal cancer and blood MSI analysis, respectively.
RESULTS
Among the 97 urothelial tumors, 86 (88.7%) showed immunohistochemical MMR loss and 68 were successfully analyzed by the Promega MSI assay, of which 48 (70.6%) were MSI-high and 20 (29.4%) were MSI-low/microsatellite stable. Seventy-two samples had sufficient DNA for the sequencing-based MSI assay, of which 55 (76.4%) and 61 (84.7%) scored as MSI-high using the 24-marker and 54-marker panels, respectively. The concordance between the MSI assays and immunohistochemistry was 70.6% (p = 0.003), 87.5% (p = 0.039), and 90.3% (p = 1.00) for the Promega assay, the 24-marker assay, and the 54-marker assay, respectively. Of the 11 tumors with retained MMR protein expression, four were MSI-low/MSI-high or MSI-high by the Promega assay or one of the sequencing-based assays.
CONCLUSION
Our results show that Lynch syndrome-associated urothelial cancers frequently had loss of MMR protein expression. The Promega MSI assay was significantly less sensitive, but the 54-marker sequencing-based MSI analysis showed no significant difference compared to immunohistochemistry. Data from this study alongside previous studies, suggest that universal MMR deficiency testing of newly diagnosed urothelial cancers, using immunohistochemistry and/or sequencing-based MSI analysis of sensitive markers, offer a potentially useful approach to identification of Lynch syndrome cases.
PubMed: 37143941
DOI: 10.3389/fonc.2023.1147591 -
Neurobiology of Disease Nov 2014The post-transcriptional regulator molecules, microRNAs, have emerged as important biomarkers and modulators of numerous pathophysiological processes including... (Review)
Review
The post-transcriptional regulator molecules, microRNAs, have emerged as important biomarkers and modulators of numerous pathophysiological processes including oncogenesis and cardiovascular diseases. Recently, a significant number of dysregulations in microRNAs have been reported in patients suffering from painful disorders such as complex regional pain syndrome, cystitis-induced chronic pain and irritable bowel disorder, in both affected tissues and the circulation. Moreover, microRNAs are known to be involved in pain processing based on several recent findings in animal models of inflammatory and neuropathic pain. The basis of this review was to cover and summarize available articles in English encompassing "microRNA and pain". In animal pain models widespread microRNA modulation is present and manifests on multiple levels i.e.: the dorsal root ganglia, the spinal dorsal horn and the brain. Numerous functional in vivo studies have found that dysregulated microRNAs are involved in the post-transcriptional modulation of genes implicated in pain generation and maintenance. Lastly, a few animal studies have delivered promising results as to the possibility of applying microRNAs as therapeutics to alleviate established pain and several clinical studies have highlighted the potential in applying microRNAs as biomarkers in painful conditions such as complex regional pain syndrome and fibromyalgia. This review briefly introduces the basics of microRNAs, their biogenesis and function, and mainly focuses on the recent advances made in understanding the role of microRNAs in relation to pain processing and painful conditions. It also provides an overview of widely diverse methodological approaches and results with a potential for future implications of microRNAs in the diagnosis and treatment of pain.
Topics: Animals; Biomarkers; Humans; Inflammation; MicroRNAs; Neuralgia
PubMed: 25119878
DOI: 10.1016/j.nbd.2014.08.003 -
Neuron Mar 2014Optic ataxia is a high-order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint's syndrome that... (Review)
Review
Optic ataxia is a high-order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint's syndrome that also includes attentional and gaze disorders. Aspects of optic ataxia are misreaching in the contralesional visual field, difficulty preshaping the hand for grasping, and an inability to correct reaches online. Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp.
Topics: Agnosia; Animals; Ataxia; Attention; Humans; Parietal Lobe; Psychomotor Performance
PubMed: 24607223
DOI: 10.1016/j.neuron.2014.02.025 -
Circulation Research May 2018
Topics: Heart; NAV1.5 Voltage-Gated Sodium Channel; Sarcolemma
PubMed: 29798894
DOI: 10.1161/CIRCRESAHA.118.313029 -
Kardiologia Polska Jun 2020
Topics: Andersen Syndrome; DNA, Mitochondrial; Humans; Mutation; Polymorphism, Genetic
PubMed: 32242403
DOI: 10.33963/KP.15274 -
The European Respiratory Journal Aug 2021https://bit.ly/3hmbaya
https://bit.ly/3hmbaya
Topics: Air Pollutants; Air Pollution; COVID-19; Humans; Pandemics; Particulate Matter; SARS-CoV-2; World Health Organization
PubMed: 34385271
DOI: 10.1183/13993003.01063-2021 -
HCA Healthcare Journal of Medicine 2020Description Periodic paralysis is a group of muscle diseases that are related to transmembrane ion channels. Dysfunction of these channels causes an increase in... (Review)
Review
Description Periodic paralysis is a group of muscle diseases that are related to transmembrane ion channels. Dysfunction of these channels causes an increase in sodium-potassium (Na-K) adenosine triphosphatase (ATPase) activity that pushes potassium into the cells that result in serum hypokalemia that manifests as muscle weakness. Beta-adrenergic stimulation and insulin sensitivity might also play a role. Periodic paralysis is divided into hereditary and acquired forms. Thyrotoxic periodic paralysis is an acquired form of periodic paralysis that manifests as muscle weakness, hypokalemia, and hyperthyroidism. The onset of the symptoms is mainly over the age of 20 and can be triggered by intense physical activity, stress, and excessive carbohydrate intake. This review presents the different types of this disease (hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome) while presenting a unique case of T3 thyrotoxicosis causing periodic paralysis.
PubMed: 37426302
DOI: 10.36518/2689-0216.1032