scholarly journals SARS-CoV-2 as a Trigger in the Development of Tourette’s-Like Symptoms: A Case Report

2021 ◽  
Author(s):  
Sabine Hazan ◽  
Sheldon Jordan
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Gut Microbiota ◽  
Dramatic Improvement ◽  
Next Generation ◽  
Rt Pcr ◽  
Gastrointestinal Microbiota ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

Abstract Background: Reports have been surfacing surrounding CNS-associated symptoms in individuals affected by coronavirus disease 19 (COVID-19). Tourette syndrome is a neuropsychiatric disorder with usual onset in childhood. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. The authors of this case report describe Tourette’s-like symptoms in a patient resulting from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection disrupting gut microbiota. Case Presentation: This case involves a 16-year-old female that developed acute onset Tourette’s-like symptoms along with neuropsychiatric symptoms after exposure to and infection from SARS-CoV-2. The patient had negative nasopharyngeal (NP) real-time reverse transcription-PCR (RT-PCR) tests for SARS-CoV-2 on five occasions from August of 2020 through June of 2021. The patient’s symptoms continued to worsen over the next six months until next-generation sequencing (NGS) revealed SARS-CoV-2 in her stool. Her treatment was adjusted as NGS revealed SARS-CoV-2 in her stool. Repair of the gastrointestinal microbiota, treatment with nutraceutical and pharmaceutical agents, as well as alterations in her surroundings resulted in dramatic improvement in the microbiome and a significant reduction of symptoms.Discussion: The use of (RT-PCR) testing to determine the presence or absence of SARS-CoV-2 may be inadequate and inaccurate for individuals that have been exposed to the virus. In addition, the impact of SARS-CoV-2 infection of the GI tract may cause significant havoc in the gut microbiota. Additional testing, eradication of infectious agents, as well as restoration of the gut microbiome are needed to effectively manage and treat this condition. The patient’s symptoms worsened over the next six months until next-generation sequencing (NGS) revealed SARS-CoV-2 in her stool and her treatment was adjusted. Treatment with nutraceuticals and alterations in her surroundings was followed by a more normal microbiome and a dramatic reduction in symptoms.

scholarly journals SARS-CoV-2 as a Trigger in the Development of Tourette’s-Like Symptoms: A Case Report

2021 ◽  
Author(s):  
Sabine Hazan ◽  
John Nowicki ◽  
Sheldon Jordan
Keyword(s):  
Case Report ◽  
Gut Microbiota ◽  
Gut Microbiome ◽  
Neuropsychiatric Symptoms ◽  
Acute Onset ◽  
Dramatic Improvement ◽  
Rt Pcr ◽  
Gastrointestinal Microbiota ◽  
Blood Brain Barrier Disruption ◽  
The Impact

Abstract Background: Reports have been surfacing surrounding CNS-associated symptoms in individuals affected by coronavirus disease 19 (COVID-19). Tourette syndrome is a neuropsychiatric disorder with usual onset in childhood. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. The authors of this case report describe Tourette’s-like symptoms in a patient resulting from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection disrupting gut microbiota. Case Presentation: This case involves a 16-year-old female that developed acute onset Tourette’s-like symptoms along with neuropsychiatric symptoms after exposure to and infection from SARS-CoV-2. The patient had negative nasopharyngeal (NP) real-time reverse transcription-PCR (RT-PCR) tests for SARS-CoV-2 on five occasions from August of 2020 through June of 2021. The patient’s symptoms continued to worsen over the next six months until next-generation sequencing (NGS) revealed SARS-CoV-2 in her stool. Repair of the gastrointestinal microbiota, treatment with nutraceutical and pharmaceutical agents, as well as alterations in her surroundings resulted in dramatic improvement in the microbiome and a significant reduction of symptoms.Discussion: The use of RT-PCR testing to determine the presence or absence of SARS-CoV-2 may be inadequate and inaccurate for individuals that have been exposed to the virus. In addition, the impact of SARS-CoV-2 infection to the GI tract may cause significant havoc in the gut microbiota which may lead to disruption of the blood brain barrier, disruption to the gut- microbiome-brain axis, and neurological symptoms. Additional testing, eradication of infectious agents, as well as restoration of the gut microbiome are needed to effectively manage and treat this condition.

scholarly journals The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders

2015 ◽  
Vol 97 ◽  
Author(s):  
TONY SHEN ◽  
ARIEL LEE ◽  
CAROL SHEN ◽  
C.JIMMY LIN
Keyword(s):  
Next Generation Sequencing ◽  
Rare Diseases ◽  
The United States ◽  
Next Generation ◽  
Recent Developments ◽  
Low Incidence ◽  
The Cost ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

SummaryThere are an estimated 6000–8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the lens of long-tailed economics. We then provide an overview of recent developments and challenges of NGS-based research on rare diseases. As the quality of NGS studies improve and the cost of sequencing decreases, NGS will continue to make a significant impact on the study of rare diseases moving forward.

scholarly journals Next Generation Sequencing (NGS) and patient pathways: What is the impact on clinical decision?

2018 ◽  
Vol 29 ◽  
pp. vi14-vi15
Author(s):  
S. Coquerelle ◽  
M. Darlington ◽  
M. Michel ◽  
M. Durand ◽  
J. Gutton ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Decision ◽  
Next Generation ◽  
Patient Pathways ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

scholarly journals The Impact of Next Generation Sequencing in Cancer Research

Cancers ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 2928
Author(s):  
Katia Nones ◽  
Ann-Marie Patch
Keyword(s):  
Cancer Research ◽  
Next Generation Sequencing ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Next Generation ◽  
Parallel Sequencing ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing ◽  
Technical Revolution

Next generation sequencing (NGS) describes the technical revolution that enabled massively parallel sequencing of fragmented nucleic acids, thus making possible our current genomic understanding of cancers [...]

scholarly journals Next Generation Sequencing (NGS) in chromosome translocation 46, XX, t (9; X) (q22; q28) - a case report

2018 ◽  
Author(s):  
Monise Santos ◽  
Ivan Henrique Yoshida ◽  
Caroline Zulim ◽  
Michelli Suemi Tanada ◽  
Emerson Barchi Cordts ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Chromosome Translocation ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

scholarly journals Next Generation Sequencing (NGS) Identifies an Association Between NPM1 Mutation and Leukemia Cutis

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2341-2341
Author(s):  
Marlise R. Luskin ◽  
Campbell L. Stewart ◽  
Jennifer JD Morrissette ◽  
David Lieberman ◽  
David J. Margolis ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hematologic Malignancy ◽  
World Health ◽  
Next Generation ◽  
Npm1 Mutation ◽  
Histologic Subtype ◽  
Leukemia Cutis ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

Abstract Background:Leukemia cutis (LC) occurs in 10-30% of AML cases and may be a marker of poor prognosis. However, outside of monocytic AML (FAB M4/M5), no clinical or genetic predictors of LC are known. Recently, a number of somatic molecular mutations have been described in AML. Using amplicon-based next-generation sequencing (NGS) of a panel of recurrent, hematologic malignancy-associated mutations, we sought to determine potential molecular markers associated with the development of LC. Methods: A cohort of non-M3 AML patients treated at the University of Pennsylvania was identified in which NGS had been performed on either leukemic blasts obtained during clinical care or from the institutional tissue bank.Average read depth for 33 hematologic malignancy-associated genes was approximately 3000X, minimal depth was 250x, and reporting frequency cutoff for variants was 5%. Mutations were reported as pathogenic or variants of uncertain significance (VUS, further sub-classified internally as likely disease associated, VUS, or likely benign) based on the University’s Center for Personalized Diagnostics (CPD) review of publically available data; only pathogenic or likely disease-associated mutations were included in this analysis. A database maintained by dermatopathology was reviewed to identify cases of leukemia cutis at any time during the disease course. Independent dermatopathology review was obtained for indeterminate cases. Association between presence of each of the 3 most common molecular mutations (FLT3-ITD, DNMT3A, and NPM1) and development of LC was assessed by logistic regression, with adjustment for FAB M4/M5, as appropriate. The association between presence of a molecular mutation in different functional classes (tumor suppressors, activated signaling, chromatin modifiers, transcription factors, splicing machinery) and the development of LC was also assessed. Results:279 adult patients with AML with known molecular genotype were identified. Molecular profile was determined from AML diagnosis in (243, 88%) with the remainder undergoing assessment after prior therapy (relapsed or refractory). 56% were male with median age of 60 years (range 18-87) and median WBC count at diagnosis of 22 K/uL (range 0.4 -388 K/uL; 17% ≥100K/uL). The majority of patients had intermediate cytogenetic risk (12% favorable, 59% intermediate, 23% unfavorable, 6% unknown) and 41% of patients had FAB M4/M5 AML (9% unknown). The three most common mutations were NPM1 (29%), DNMT3A (25%), and FLT3-ITD (23%). NPM1mutations were enriched in patients with FAB M4/M5 AML (41% vs 23%, p=0.003). Leukemia cutis was present in 26 (9%) of patients. NPM1 mutant status was present in 14 of 26 cases of leukemia cutis (OR 3.17, 95% CI 1.40-7.20, p=0.006). No association was detected for LC and the presence of mutant FLT3-ITD (OR 1.27, p=0.613), mutant DNMT3A (OR 1.7, p=0.224), or a mutation in any functional class of AML mutations (all p-values NS). The impact of NPM1 mutant status remained significant after adjustment for association with M4/M5 AML (OR 3.91, p=0.005). As the histologic subtype of AML might modify the association between NPM1 mutations and leukemia cutis, we next examined the impact of NPM1 mutant status on patients with FAB M4/M5 AML and non-M4/M5 AML. Among patients with M4/M5 AML, 10/12 (80%) patients with LC were NPM1 mutant compared to 32/91 (35%) without LC suggesting that the presence of mutated NPM1 was significantly associated with the development of LC (OR 9.22, p=0.006). Among patients with non-M4/M5 AML, 3/9 (33%) of patients with leukemia cutis were NPM1 mutant compared to 32/142 (22.5%) without LC indicating no association in the non-M4/M5 subgroup (OR 1.72, p=0.461). Interestingly, M4/M5 AML was not associated with LC in the NPM1 WT cohort (OR 0.65, p=0.6). Conclusion: Using NGS, we identify a novel association between NPM1 mutation status and the presence of leukemia cutis, particularly within monocytic AML. Confirmation of these observations in a larger dataset is planned. Our data suggest potential cellular effects of NPM1 mutation affecting homing of leukemic blasts to skin and support the World Health Organization’s provisional classification of NPM1-mutated AML as a distinct biologic entity. Disclosures No relevant conflicts of interest to declare.

scholarly journals Μοριακός χαρακτηρισμός, μελέτη των εξελικτικών σχέσεων και ανίχνευση ιών της οικογένειας Closteroviridae που σχετίζονται με την ασθένεια μικροκαρπίας της κερασιάς

2015 ◽  
Author(s):  
Ασημίνα Κατσιάνη
Keyword(s):  
Next Generation Sequencing ◽  
Real Time ◽  
Next Generation ◽  
Rt Pcr ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Στόχος της παρούσας εργασίας ήταν η διερεύνηση της παρουσίας της ασθένειας της μικροκαρπίας της κερασιάς (LChD) στην Ελλάδα και ο χαρακτηρισμός των ιών που σχετίζονται με αυτήν. Για το σκοπό αυτό πραγματοποιήθηκε επισκόπηση οπωρώνων κερασιάς και άλλων ειδών πυρηνοκάρπων για την παρουσία των Little cherry virus 1 και -2 (LChV-1 και -2). Στην περίπτωση του LChV-1, οι διαθέσιμες στη βιβλιογραφία δοκιμές RT-PCR παρουσίασαν περιορισμένη ευαισθησία ανίχνευσης και για το λόγο αυτό αναπτύχθηκε μία νέα εστιασμένη RT-PCR δοκιμή η οποία και χρησιμοποιήθηκε για την ανίχνευση του ιού στο φυτικό υλικό που συλλέχθηκε. Κατά τον έλεγχο δεν διαπιστώθηκε η παρουσία του LChV-2 σε κερασιά και βυσσινιά. Αντίθετα, ο LChV-1 είναι αρκετά διαδεδομένος στην κερασιά, ενώ ανιχνεύθηκε για πρώτη φορά στην Ελλάδα σε βυσσινιά, δαμασκηνιά και ροδακινιά. Επιπλέον, μελετήθηκε η γενετική διαφοροποίηση του LChV-1 και προσδιορίστηκαν οι εξελικτικοί μηχανισμοί που διαμορφώνουν τη δομή του πληθυσμού του. Για το σκοπό αυτό συλλέχτηκαν απομονώσεις από διάφορους ξενιστές και περιοχές της Ελλάδος και προσδιορίστηκαν οι αλληλουχίες τμημάτων των γονιδίων RdRp, HSP70h και CP. Οι φυλογενετικές αναλύσεις των περιοχών αυτών κατέταξαν τις Ελληνικές και τις κατατεθειμένες απομονώσεις σε τέσσερις διακριτούς κλάδους ανεξάρτητα από τον ξενιστή ή τη γεωγραφική τους προέλευση. Περαιτέρω ανάλυση θετικής επιλογής με τον υπολογισμό της αναλογίας των μη-συνώνυμων αντικαταστάσεων ανά μη-συνώνυμη θέση (dN) προς τις συνώνυμες αντικαταστάσεις ανά συνώνυμη θέση (dS) έδειξε ότι οι τρεις γονιδιακές περιοχές που μελετήθηκαν υπόκεινται σε ισχυρή πίεση αρνητικής επιλογής. Επιπλέον, προσδιορίστηκε ένα σημείο ανασυνδυασμού στο 3΄ άκρο της RdRp μίας Ελληνικής απομόνωσης (Νο2 ISTO). Μία εκ των απομονώσεων του LChV-1 (G15 3) ήταν γενετικά απομακρυσμένη και στα τρία γονίδια που μελετήθηκαν και επιλέχθηκε να χαρακτηριστεί μοριακά με την πλατφόρμα αλληλούχησης νέας γενιάς (Next Generation Sequencing, NGS). Η συγκριτική ανάλυση της αλληλουχίας της έδειξε ότι η νέα απομόνωση είναι αρκετά διαφοροποιημένη από τις ήδη γνωστές με την παραλλακτικότητα σε νουκλεοτίδια στο σύνολο του γονιδιώματος της να κυμαίνεται από 26-27%, ενώ παρατηρήθηκαν σε σημαντικό αριθμό θέσεων πολυμορφισμοί τύπου προσθήκης ή/και απαλοιφής. Επιπλέον, προσδιορίστηκε τμήμα μήκους 10.794 νουκλεοτιδίων της αλληλουχίας μίας ακόμη διαφοροποιημένης Ελληνικής απομόνωσης (GR), η οποία παρουσίασε υψηλή εξελικτική συγγένεια με μία δημοσιευμένη απομόνωση. Στις απομονώσεις G15 3 και GR παρατηρήθηκε πολυμορφισμός στις ίδιες ακριβώς θέσεις μέσα στα ΑΠΑ που ενδέχεται να επηρεάζουν το μέγεθος των κωδικοποιούμενων πρωτεϊνών p4, HSP70h και CPm με πρόωρο τερματισμό της έκφρασής τους. Επιπλέον, αναπτύχθηκε μία δοκιμή πραγματικού χρόνου αντίστροφης μεταγραφής-αλυσιδωτής αντίδρασης της πολυμεράσης (Real Time RT-qPCR) για την αξιόπιστη ανίχνευση και τον ποσοτικό προσδιορισμό του LChV-1. Για το σκοπό αυτό σχεδιάστηκαν εξειδικευμένοι εκκινητές και ιχνηλάτης Taqman από συντηρημένες περιοχές του γονιδίου της καψιδιακής πρωτεΐνης (CP) και το εύρος ανίχνευσής τους αξιολογήθηκε με τη χρήση γενετικά διαφοροποιημένων απομονώσεων του ιού. Η απόδοση της αντίδρασης που αναπτύχθηκε ήταν 96,7%, ενώ το δυναμικό εύρος του ποσοτικού προσδιορισμού της ήταν 100-108 αντίγραφα RNA. Η μέθοδος αυτή εφαρμόστηκε για τη μελέτη της διακύμανσης της συγκέντρωσης του ιού στη διάρκεια του έτους σε βλαστό και φύλλα και προσδιορίστηκαν οι καταλληλότερες περίοδοι και φυτικοί ιστοί για δειγματοληψία.

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