Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

2021 ◽  
Author(s):  
Stefano Parravicini ◽  
Ludovica Pasca ◽  
Martina Paola Zanaboni ◽  
Costanza Varesio ◽  
Elisa Rognone ◽  
...  
Keyword(s):  
Potential Role ◽  
Therapeutic Option ◽  
Disease Onset ◽  
Ring Chromosome ◽  
Dopamine Depletion ◽  
Childhood Onset ◽  
Chromosomal Disorder ◽  
Chromosome 20 ◽  
Drug Resistant Epilepsy

AbstractRing chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Recent studies support a possible role of the dopaminergic system in the epileptogenesis of this syndrome. We report the case of a 13-year-old female with mosaic r(20) who showed typical disease onset and evolution and a remarkable electroclinical improvement with zonisamide. Epilepsy related to r(20) is often medically intractable. When valproate and lamotrigine are not effective, zonisamide could be further investigated as a therapeutic option, since it acts as antifocal and it has a potential role in the prevention of dopamine depletion.

scholarly journals Tryptophan Metabolism: A Link Between the Gut Microbiota and Brain

2019 ◽  
Vol 11 (3) ◽  
pp. 709-723 ◽  
Author(s):  
Kan Gao ◽  
Chun-long Mu ◽  
Aitak Farzi ◽  
Wei-yun Zhu
Keyword(s):  
Gut Microbiota ◽  
Brain Function ◽  
Potential Role ◽  
Therapeutic Option ◽  
Normal Growth ◽  
Tryptophan Metabolism ◽  
The Central Nervous System ◽  
Multiple Levels ◽  
Synthesis And Degradation

ABSTRACT The gut-brain axis (GBA) is a bilateral communication network between the gastrointestinal (GI) tract and the central nervous system. The essential amino acid tryptophan contributes to the normal growth and health of both animals and humans and, importantly, exerts modulatory functions at multiple levels of the GBA. Tryptophan is the sole precursor of serotonin, which is a key monoamine neurotransmitter participating in the modulation of central neurotransmission and enteric physiological function. In addition, tryptophan can be metabolized into kynurenine, tryptamine, and indole, thereby modulating neuroendocrine and intestinal immune responses. The gut microbial influence on tryptophan metabolism emerges as an important driving force in modulating tryptophan metabolism. Here, we focus on the potential role of tryptophan metabolism in the modulation of brain function by the gut microbiota. We start by outlining existing knowledge on tryptophan metabolism, including serotonin synthesis and degradation pathways of the host, and summarize recent advances in demonstrating the influence of the gut microbiota on tryptophan metabolism. The latest evidence revealing those mechanisms by which the gut microbiota modulates tryptophan metabolism, with subsequent effects on brain function, is reviewed. Finally, the potential modulation of intestinal tryptophan metabolism as a therapeutic option for brain and GI functional disorders is also discussed.

scholarly journals The role of miRNAs in COVID-19 disease

2021 ◽  
Vol 16 (4) ◽  
pp. 301-306
Author(s):  
Mona Fani ◽  
Milad Zandi ◽  
Saeedeh Ebrahimi ◽  
Saber Soltani ◽  
Samaneh Abbasi
Keyword(s):  
Potential Role ◽  
Therapeutic Option ◽  
Noncoding Rnas ◽  
Sars Coronavirus ◽  
Cellular Mirnas ◽  
Human Contact ◽  
In Cells

Nowadays, the SARS Coronavirus 2 (SARS-CoV-2) infection is recognized as the primary cause of mortality in humans. SARS-CoV-2 is transmitted through human-to-human contact and is asymptomatic in most patients. In addition to approved vaccines against SARS-CoV-2 infection, miRNAs may also be promising options against this new virus. miRNAs are small and noncoding RNAs 18–25 nucleotides in length that target the mRNAs to degrade them or obstruct their translation miRNAs act as an observer in cells. This study reviewed the literature on the potential role of cellular miRNAs in the SARS-CoV-2-host interplay as a therapeutic option in COVID-19 patients.

scholarly journals Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient‐led approach

2020 ◽  
Vol 5 (2) ◽  
pp. 295-300 ◽  
Author(s):  
Donald Gordon ◽  
Allison Watson ◽  
Archana Desurkar ◽  
Laura Cowley ◽  
Thomas F. Hiemstra
Keyword(s):  
Ring Chromosome ◽  
Dietary Therapy ◽  
Chromosome 20

scholarly journals Non-vitamin K Antagonist Oral Anticoagulants and Drug-Food Interactions: Implications for Clinical Practice and Potential Role of Probiotics and Prebiotics

2022 ◽  
Vol 8 ◽  
Author(s):  
Ana Sánchez-Fuentes ◽  
José Miguel Rivera-Caravaca ◽  
Raquel López-Gálvez ◽  
Francisco Marín ◽  
Vanessa Roldán
Keyword(s):  
Clinical Practice ◽  
Vitamin K ◽  
Potential Role ◽  
Therapeutic Option ◽  
Vitamin K Antagonists ◽  
Oral Anticoagulants ◽  
Vitamin K Antagonist ◽  
Pharmacodynamic Profile ◽  
Potential Interactions

Non-vitamin K antagonist oral anticoagulants (NOACs) are a therapeutic option to prevent stroke in patients with atrial fibrillation (AF). In fact, NOACs have become the recommended choice by international clinical practice guidelines over vitamin K antagonists (VKA), because of their efficacy and safety profile, especially in newly initiated patients. The more predictable pharmacokinetic and pharmacodynamic profile of this family of drugs allows preventing anticoagulation drug monitoring. Furthermore, NOACs have significantly fewer drug and food interactions in comparison with VKAs. Despite this, there are no studies that compare the effects on the quality of anticoagulation of NOACs with the intake of potential interactions drugs of P-glycoprotein and cytochrome P450 (CYP). This review brings an overview of NOACs pharmacokinetics profile and their potential drug-food interactions. We also briefly discuss the potential role of prebiotics and probiotics in patients under therapy with NOACs.

scholarly journals A case of drug-resistant epilepsy associated with ring Chromosome 20

2021 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Sita Jayalakshmi ◽  
Anvesh Balabhadra ◽  
Mihir Parekh ◽  
Anuja Patil
Keyword(s):  
Ring Chromosome ◽  
Drug Resistant ◽  
Chromosome 20 ◽  
Drug Resistant Epilepsy

scholarly journals Differential Expression of MicroRNAs in Silent and Functioning Corticotroph Tumors

2020 ◽  
Vol 9 (6) ◽  
pp. 1838
Author(s):  
Araceli García-Martínez ◽  
Antonio C. Fuentes-Fayos ◽  
Carmen Fajardo ◽  
Cristina Lamas ◽  
Rosa Cámara ◽  
...  
Keyword(s):  
Gene Expression ◽  
Transcription Factor ◽  
Transcription Factors ◽  
Potential Role ◽  
Therapeutic Option ◽  
Pharmacological Treatments ◽  
Expression Levels ◽  
Qrt Pcr ◽  
Gene Expression Levels

The potential role of miRNAs in the silencing mechanisms of pituitary neuroendocrine tumors (PitNETs) has not been addressed. The aim of the present study was to evaluate the expression levels and the potential associated role of some miRNAs, pathways, and transcription factors in the silencing mechanisms of corticotroph tumors (CTs). Accordingly, the expression of miR-375, miR-383, miR-488, miR-200a and miR-103; of PKA, MAP3K8, MEK, MAPK3, NGFIB, NURR1, PITX1, and STAT3 were analyzed via qRT-PCR in 23 silent and 24 functioning CTs. miR-200a and miR-103 showed significantly higher expression in silent than in functioning CTs, even after eliminating the bias of tumor size, therefore enabling the differentiation between the two variants. Additionally, miR-383 correlated negatively with TBX19 in silent CTs, a transcription factor related with the processing of POMC that can participate in the silencing mechanisms of CTs. Finally, the gene expression levels of miR-488, miR-200a, and miR-103 were significantly higher in macroadenomas (functioning and silent) than in microadenomas. The evidence from this study indicates that miRNAs could be involved in the pathophysiology of CTs. The translational implications of these findings suggest that pharmacological treatments specifically targeting these miRNAs could become a promising therapeutic option for these patients.

PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy

Neurology ◽  
2004 ◽  
Vol 63 (1) ◽  
pp. 73-77 ◽  
Author(s):  
A. Biraben ◽  
F. Semah ◽  
M. -J. Ribeiro ◽  
G. Douaud ◽  
P. Remy ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Ring Chromosome ◽  
Chromosome 20

scholarly journals Can radiotherapy be a viable salvage treatment option for the relapsed seminoma confined to the infra-diaphragm region recurring after primary chemotherapy for bulky stage II seminoma?

2013 ◽  
Vol 4 (5) ◽  
pp. 137 ◽  
Author(s):  
Richard Choo ◽  
Fernando Quevedo ◽  
Christopher S. Choo ◽  
Michael Blute
Keyword(s):  
Treatment Option ◽  
Potential Role ◽  
Therapeutic Option ◽  
Salvage Treatment ◽  
Stage Ii ◽  
Primary Chemotherapy ◽  
Limited Area ◽  
Therapeutic Tool ◽  
Recurrent Tumour

There has been a paucity of research describing a potential roleof radiotherapy as salvage treatment for recurrent seminoma followingprimary chemotherapy for bulky stage IIC seminoma. Wereport a case of a bulky stage IIC seminoma relapsed in the pelvisafter primary chemotherapy and surgery for post-chemotherapyresidual mass, which was subsequently salvaged with radiotherapy.The patient has remained free of relapse at 3.7 years post-salvageradiotherapy. This case demonstrates that radiotherapy can be asalvage therapeutic option for recurrent seminoma following primarychemotherapy for bulky stage IIC seminoma, provided thatthe recurrent tumour is confined to a limited area of the infradiaphragmaticregion. There is a need for further study to examinethe potential role of radiotherapy as a salvage therapeutic tool forpost-chemotherapy recurrent seminoma.

scholarly journals The Role of Intestinal Bacteria and Gut–Brain Axis in Hepatic Encephalopathy

2021 ◽  
Vol 10 ◽  
Author(s):  
Zefeng Chen ◽  
Jingsheng Ruan ◽  
Dinghua Li ◽  
Min Wang ◽  
Zhiwei Han ◽  
...  
Keyword(s):  
Hepatic Encephalopathy ◽  
Intestinal Microbiota ◽  
Neurological Disorders ◽  
Potential Role ◽  
Therapeutic Option ◽  
Intestinal Bacteria ◽  
Metabolic Effects ◽  
Motor Disorders ◽  
Liver Insufficiency

Hepatic encephalopathy (HE) is a neurological disorder that occurs in patients with liver insufficiency. However, its pathogenesis has not been fully elucidated. Pharmacotherapy is the main therapeutic option for HE. It targets the pathogenesis of HE by reducing ammonia levels, improving neurotransmitter signal transduction, and modulating intestinal microbiota. Compared to healthy individuals, the intestinal microbiota of patients with liver disease is significantly different and is associated with the occurrence of HE. Moreover, intestinal microbiota is closely associated with multiple links in the pathogenesis of HE, including the theory of ammonia intoxication, bile acid circulation, GABA-ergic tone hypothesis, and neuroinflammation, which contribute to cognitive and motor disorders in patients. Restoring the homeostasis of intestinal bacteria or providing specific probiotics has significant effects on neurological disorders in HE. Therefore, this review aims at elucidating the potential microbial mechanisms and metabolic effects in the progression of HE through the gut–brain axis and its potential role as a therapeutic target in HE.

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