Academic literature on the topic 'Monogenic IBD'
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Journal articles on the topic "Monogenic IBD"
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Nambu, R., N. Warner, D. J. Mulder, and A. Muise. "A26 A SYSTEMTIC REVIEW OF MONOGENIC INFLAMMATORY BOWEL DISEASE: CLINICAL PHENOTYPE AND GENOTYPE." Journal of the Canadian Association of Gastroenterology 4, Supplement_1 (March 1, 2021): 145–47. http://dx.doi.org/10.1093/jcag/gwab002.025.
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Abstract Background Advances in genomic technologies have led to an increase in reports of monogenic inflammatory bowel disease (IBD). The majority of the studies on monogenic IBD have focused only on young children aged <6 years. There are no detailed reports containing a comprehensive picture of monogenic IBD with specific numbers on the clinical features, genetic profiles and disease course. Since each gene-specific cause of monogenic IBD is rare, it is difficult to collect cases in a single study even with international cohort studies. Aims To elucidate a comprehensive picture of monogenic IBD, we conducted a systematic review of all reported cases of monogenic IBD. Methods A systematic review of MEDLINE articles published between January 2000 and December 2019 was conducted. 662 monogenic IBD cases were identified from 273 eligible articles. Data on clinical manifestation, genotype, and management were collected. Results The most frequently reported genes causative of monogenic IBD patients were IL10RA, CYBB, IL10RB, and TTC7A (Figure). In total, 64.8% of patients developed IBD before six years old, 15.6% between ages 10 and 17.9 years, and 11.6% at age 18 years or older. Only 32.7% had any history of extra-intestinal manifestation (EIM) before IBD onset. There was substantial difference in the onset age groups and the underlying monogenic disorders. 74.4% developed at least one EIM during their clinical course. The most common EIMs were atypical infection (44.1%), dermatologic abnormality (39.2%), autoimmunity (22.7%) and lymphoid organ abnormality (11.5%). Autosomal recessive (62.8%) was the most common inheritance pattern, and missense-variants (44.3%) were the most identified type of genetic variants. Deletions including CNVs, intronic, synonymous and inversion, which have the possibility to be overlooked by whole exome sequencing were shown in some cases. Bowel surgery, biologics, and hematopoietic stem cell transplantation were performed in 28.3%, 32.8%, and 24.4% of patients, respectively. Conclusions Monogenic IBD diagnosis and management is a challenging clinical problem across age groups; the EIMs are more diverse and the management is evidently more difficult compared to non-monogenic IBD. An improved understanding of the characteristics of the genes and underlying disease processes in monogenic IBD is necessary for effective management. Funding Agencies CAG, CIHRUehara Memorial Foundation Fellowship
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Jezernik, Gregor, Dušanka Mičetić-Turk, and Uroš Potočnik. "Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD." Journal of Personalized Medicine 10, no. 4 (November 26, 2020): 243. http://dx.doi.org/10.3390/jpm10040243.
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Inflammatory bowel disease (IBD) manifests as a complex disease resulting from gene–environment interactions or as a monogenic disease resulting from deleterious mutations. While monogenic IBD is predominantly pediatric, only one-quarter of complex IBD is pediatric. In this study, we were the first to systematically compare genetic architecture between monogenic and complex pediatric and adult IBD on genetic and molecular pathway levels. Genes reported as causal for monogenic pediatric IBD and related syndromes and as risk factors for pediatric and adult complex IBD were analyzed using CytoScape and ClueGO software tools to elucidate significantly enriched Gene Ontology (GO) terms. Despite the small overlap (seven genes) between monogenic IBD genes (85) and complex IBD loci (240), GO analysis revealed several enriched GO terms shared between subgroups (13.9%). Terms Th17 cell differentiation and Jak/STAT signaling were enriched in both monogenic and complex IBD subgroups. However, primary immunodeficiency and B-cell receptor signaling pathway were specifically enriched only for pediatric subgroups, confirming existing clinical observations and experimental evidence of primary immunodeficiency in pediatric IBD patients. In addition, comparative analysis identified patients below 6 years of age to significantly differ from complex pediatric and adult IBD and could be considered a separate entity.
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Ouahed, Jodie, Elizabeth Spencer, Daniel Kotlarz, Dror S. Shouval, Matthew Kowalik, Kaiyue Peng, Michael Field, et al. "Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies." Inflammatory Bowel Diseases 26, no. 6 (December 3, 2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.
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Abstract Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before 6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some distinct characteristics such as a higher likelihood of an underlying monogenic etiology or primary immune deficiency. In addition, patients with VEO-IBD have a higher incidence of inflammatory bowel disease unclassified (IBD-U) as compared with older-onset IBD. In some populations, VEO-IBD represents the age group with the fastest growing incidence of IBD. There are contradicting reports on whether VEO-IBD is more resistant to conventional medical interventions. There is a strong need for ongoing research in the field of VEO-IBD to provide optimized management of these complex patients. Here, we provide an approach to diagnosis and management of patients with VEO-IBD. These recommendations are based on expert opinion from members of the VEO-IBD Consortium (www.VEOIBD.org). We highlight the importance of monogenic etiologies, underlying immune deficiencies, and provide a comprehensive description of monogenic etiologies identified to date that are responsible for VEO-IBD.
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Lega, Sara, Alessia Pin, Serena Arrigo, Cristina Cifaldi, Martina Girardelli, Anna Monica Bianco, Monica Malamisura, et al. "Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience." Inflammatory Bowel Diseases 26, no. 5 (August 3, 2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.
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Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent a genetic workup were collected. Results Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P < 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. Conclusion A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients’ management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.
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Levine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng, and David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases." Pharmaceutics 15, no. 3 (March 17, 2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.
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Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD) is defined by an age of onset of less than six years of age. Twenty percent of VEO-IBDs have an identifiable monogenic defect. The culprit genes are often involved in pro-inflammatory immune pathways, which represent potential avenues for targeted pharmacologic treatments. This review will provide an overview of the current state of disease-specific targeted therapies, as well as empiric treatment for undifferentiated causes of VEO-IBD.
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Leung, Gabriella, and Aleixo M. Muise. "Monogenic Intestinal Epithelium Defects and the Development of Inflammatory Bowel Disease." Physiology 33, no. 5 (September 1, 2018): 360–69. http://dx.doi.org/10.1152/physiol.00020.2018.
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The incidence of inflammatory bowel disease (IBD) is increasing worldwide, most notably in young children. The development of disease is a combination of several factors, including genetics, environment, the microbiota, and immune system. Recently, next-generation sequencing has allowed for the identification of novel genetic causes for intestinal disease, including pediatric inflammatory bowel disease (IBD). These IBD genes can generally be grouped into genes causing either primary immunodeficiency or intestinal epithelial defects (the focus of this review). Most of these genes have been functionally validated with in vitro and/or animal models, and have been demonstrated to cause intestinal disease. Intestinal epithelial IBD genes are of particular interest since they are the least amenable to current therapies; therefore, further research is warranted to develop potential therapies. A number of cellular pathways are impacted with intestinal epithelial IBD genes, including intestinal epithelial cell adhesion and generation of reactive oxygen species. Here, we describe the currently known IBD risk alleles and monogenic causal intestinal epithelial genes, their putative roles in preserving intestinal epithelial cell homeostasis, and their implications for IBD pathophysiology.
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Charbit-Henrion, Fabienne, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, et al. "Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study." Journal of Crohn's and Colitis 12, no. 9 (May 18, 2018): 1104–12. http://dx.doi.org/10.1093/ecco-jcc/jjy068.
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Abstract Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, A. Serena, P. Gandullia, and C. Romano. "P300 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Therapeutic approach: Part II." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i330. http://dx.doi.org/10.1093/ecco-jcc/jjab232.427.
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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age, 6 years old with, 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis >, 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We compared the results of this population with what is reported in the literature in terms of therapeutic approach and surgery. Percentage comparison of data was performed. Results 74 VEO-IBD patients were enrolled. At the onset of the disease, during induction therapy, we found, 15–21% of VEO-IBDs are corticoresistant, remission was with Infliximab (table 1). During disease follow-up of at least, 5 years from onset: CD, 47,4% and CU, 61,1% of VEO-IBDs remain in therapeutic maintenance with, 1st line drugs (Mesalazine and Azathioprine; table 2). This result highlights how the VEO-IBDs also maintain clinical, histological and endoscopic remission even with, 1st line drugs, the only exception being the monogenic forms that may also require HSC transplantation. The surgical approach, according to our data, is far superior to that reported in the literature, although there are several conflicting studies in this regard. Patients undergoing major surgery (colectomy, ileostomy, ileorectoanastomosis, J pouch) are CD, 36.8% and CU, 18.5%, if we also consider minor surgery (perianal surgery; CD, 36.8%) the percentage of patients with Crohn’s disease undergoing surgery increases to, 52.6%. These numbers are far above what is reported in the literature:, 14–15% after, 5 years from diagnosis. It is likely that this result is due to the high numbers of procedures performed at Gaslini Institute, National Center for these diseases. A monogenic form of VEO-IBD was found in, 5.4% frequently linked to immunedeficiency, 2 cases (2,7%) required allogeneic HSC transplantation (XIAP, WAS) with complete recovery from disease. Conclusion VEO-IBDs represent a challenge for the pediatric gastroenterologist. Therapy is no different in terms of response from pediatric inflammatory bowel diseases, with the exception of monogenic forms who may need HSC transplant. Many VEO IBDs maintain remission with, 1st line drugs. Further studies will be needed to define the best therapeutic and diagnostic approach for these diseases.
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Collen, Lauren, Michael Field, Alal Eran, Vanessa Mitsialis, Jared Barends, Gwen Saccocia, Mairead Bresnahan, et al. "BULK RNA-SEQUENCING OF BLOOD INFORMS MOLECULAR DIAGNOSES IN VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE." Inflammatory Bowel Diseases 29, Supplement_1 (January 26, 2023): S56. http://dx.doi.org/10.1093/ibd/izac247.108.
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Abstract BACKGROUND Very early onset inflammatory bowel disease (VEOIBD) is defined as disease onset prior to age 6. VEOIBD is monogenic in >5% of cases; however, in the remaining cases, molecular basis of disease is unknown. We aimed to utilize bulk RNA-seq of blood to 1) define transcriptional signatures in established monogenic IBD and 2) to inform novel molecular diagnoses. METHODS We sequenced the transcriptomes of 115 whole blood samples, comprising patients with VEOIBD of a known monogenic cause (n=35), VEOIBD without a known monogenic cause (n=70), and healthy controls (n=10). We focused on genes whose normalized expression was at least 5 standard deviations away from the population mean in at least one sample. We comprehensively characterized clinical phenotypes, to assess concordance with known pathway and gene function, and compared to whole exome sequencing data where available. We interrogated Bayesian IBD networks to assess for enrichment of genes of interest. RESULTS First, we report on a novel transcriptional signature shared by two patients with VEOIBD secondary to X-linked agammaglobulinemia (pathogenic BTK mutations). The signature is defined by under-expression of CXCR5 and FCRL5 (Fig 1) and suggests reduced transcripts secondary to B-cell depletion or novel BTK-dependent mechanisms of gene transcription. Second, we report on three novel candidate VEOIBD genes identified through our approach: MSN, SLC39A4, and BTN3A2 (Fig 2). MSN expression was below threshold in one patient with VEOIBD complicated by fistulae, recurrent infections, and death from pneumonia at age 62. Review of his exome revealed a novel loss of function mutation in MSN. MSN encodes moesin, an actin cytoskeleton modulator, which regulates lymphocyte migration and adhesion. Mutations in MSN are associated with X-linked moesin-associated immunodeficiency, which was first reported in a patient with IBD this year. SLC39A4, which encodes an intestinal zinc transporter, was below threshold in two patients. Mutations in SLC39A4 are associated with acrodermatitis enteropathica, characterized by dermatitis and diarrhea. One patient has VEOIBD with dermatitis; the second has VEOIBD complicated by toxic megacolon and colectomy. Coding mutations in SLC39A4 have not been identified. Further molecular assessment of zinc transporter function is underway. Lastly, BTN3A2 expression was below threshold in two patients with infantile-onset IBD. BTN3A2 plays a role in T cell receptor interactions and NF-KB signaling. Bayesian IBD networks, built from independent cohorts, revealed BTN3A2 and SLC39A4 subnetworks to be enriched in predicted key driver genes of inflammation, further supporting these genes’ potential disease association. CONCLUSIONS Bulk RNA-seq in blood can be used as a diagnostic tool to aid in identifying novel molecular pathways and monogenic diagnoses in VEOIBD.
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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, S. Arrigo, P. Gandullia, and C. Romano. "P263 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Clinical history: Part I." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i304. http://dx.doi.org/10.1093/ecco-jcc/jjab232.390.
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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age 6 years old with 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis > 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We compared the results of this population with what is reported in the literature in terms of clinical characteristics at onset (symptoms, age at onset, age at diagnosis), comorbidities, complications, associated immunodeficiencies, endoscopic models. Percentage comparison and chi-square test of data was performed. Results 74 VEO-IBD patients were enrolled. The onset is around 3 years, a predominantly colonic localization, inflammatory pattern. Positive family history for IBD in 8.1%. Histology is very nonspecific and is characterized above all by basal plasmacytosis (CD 68,4%; CU 72,7%) and hypereosinophilia (CD 36,8%; CU 40%). At diagnosis, IBD-U (= Unclassified) is prevalent (47,2%), the frequency of which will decrease over the years (3 years after onset, 32.4%), differentiating into CU and CD (table 1). The main clinical manifestations at onset are chronic diarrhea (CD 89,5%; CU 91%), blood in the stool and / or hematochezia (CD 78,9%; CU 96,4%; table 2). Sensitive onset tests for IBD are ESR, fecal calprotectin and iron deficiency anemia (positive respectively in CD 75-60-71,4%%; CU 58,8-84,6-66,7%). The most frequent extraintestinal manifestations are arthritis (CD 22,2%) and sclerosing cholangitis (CU 7,3%). To highlight the significant statistical association (p <0.05) between VEO-IBD and neuro / nephrological diseases (major renal malformations and nephropathies, autism and neuropsychiatric disorders; table 3). Among the most common complications are severe anemia (CD 31,6%; CU 42,6%), acute attack of severe colitis, malnutrition and fistulization. A monogenic form of VEO-IBD was found in 5.4% frequently linked to immunedeficiency, 2 cases required allogenic HSC transplantation (XIAP, WAS). Conclusion VEO-IBDs represent a challenge for the pediatric gastroenterologist. The clinical course is no more severe than pediatric inflammatory bowel diseases, with the exception of monogenic forms. A genetic association between nephro / neurological comorbidities and VEO-IBDs is likely, the genetics is still to be discovered. Further studies will be needed to define the best therapeutic and diagnostic approach for these diseases.
Dissertations / Theses on the topic "Monogenic IBD"
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Günther, Claudia, Michael Meurer, Annette Stein, Antje Viehweg, and Min-Ae Lee-Kirsch. "Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1." Karger, 2009. https://tud.qucosa.de/id/qucosa%3A27650.
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Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described.Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
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Williams, Alan. "Systematics and ecology of selected monogenea from Western Australia." Thesis, Williams, Alan (1988) Systematics and ecology of selected monogenea from Western Australia. PhD thesis, Murdoch University, 1988. https://researchrepository.murdoch.edu.au/id/eprint/51986/.
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This study of monogeneans from marine and estarine fishes of the Perth area in Western Australia is divided into three main sections.
The first of these is a taxonomic survey which examines 29 teleost species that are common in the Swan River Estuary and adjacent coastal marine embayraents. Thirty-nine species of monogeneans from 10 families were collected and their taxonomy examined. The parasite fauna is discussed in terms of host specificity and species diversity, and the monogenean fauna is compared to that from other geographical localities.
The second part of the study details the attachment mechanism of Heterobothrium elongatum (Diclidophoridae), a polyopisthocotylidan from the above collection. Attachment is unlike that described for any other monogenean and involves subcutaneous invasion of the entire gill arch by the parasite’s haptor and prehaptoral stalk. Aspects of parasite development. site of attachment, pathogenicity and ecology are discussed.
The final area of study is an examination of the population biology of H.elongatum and H.torquigeneri from the gills of the common estuarine and inshore coastal pufferfish. Torquigener pleurogramma. A sampling regime over two years at three localities permitted analysis of parasite dispersion. seasonal abundance and recruitment strategy. Particular attention was given to the life cycle and age structure of host populations which facilitated discussion of host-parasite interactions. The characteristics of estuarine and coastal populations of Heterobothrium spp. were compared and discussed in relation to population studies of monogeneans in the northern hemisphere.
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Reinhardt, Martin. "Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing." 2018. https://tubaf.qucosa.de/id/qucosa%3A33489.
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Die Dissertation mit dem Titel 'Applications of Riesz Transforms and Monogenic Wavelet Frames in Imaging and Image Processing' beschäftigt sich mit modernen Verfahren der Signalverarbeitung in der Bildgebung sowie in der Bildverarbeitung. Hierzu werden Riesz-Transformationen und translationsinvariante Wavelet Frames zu monogenen Frames vereint und angewandt. Bekannte Techniken wie der Strukturtensor und der Energieoperator werden mit Hilfe der neuen Verfahren verbessert und für die Orientierungsbestimmung in Bildern genutzt. Eine weitere Anwendung stellt der Algorithmus 'Equalization of Brightness' dar. Er wird mit einigen Anpassungen verwendet, um eine Implementierung der monogenen Wavelet Frames mit Hilfe des NVIDIA CUDA Frameworks vorzustellen. Bei einem empirischen Vergleich der vorgestellten Techniken mit den ursprünglichen Verfahren konnten präzisere Ergebnisse mit niedrigerer Rauschanfälligkeit nachgewiesen werden. Ein weiterer Punkt der Arbeit beschäftigt sich mit den Möglichkeiten, monogene Wavelet Frames als Filter in optischen Systemen einzusetzen.:Preface
Introduction
1. Time Frequency Analysis for Signal Processing
2. The Riesz Transform and Monogenic Wavelet Frames
3. Applications of Monogenic Wavelet Frames
Conclusion
A. Mathematical Appendix
B. Source Code Listings
Bibliography
List of Figures
Books on the topic "Monogenic IBD"
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Schwartz, Peter J., and Lia Crotti. Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0152.
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-symptomatic diagnosis among family members. All affected subjects should be treated with beta blockers (nadolol or propranolol). Preliminary data support the association of beta blockers with flecainide. After a cardiac arrest, an implantable cardioverter defibrillator (ICD) should be implanted, but it is accompanied by a disquietingly high incidence of adverse effects. After syncope on beta blocker therapy, left cardiac sympathetic denervation is most effective, preserves quality of life, and does not preclude a subsequent ICD implantation.
Book chapters on the topic "Monogenic IBD"
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Schwartz, Peter J., and Lia Crotti. "Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia." In ESC CardioMed, 683–85. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0152_update_001.
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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-symptomatic diagnosis among family members. All affected subjects should be treated with beta blockers (nadolol or propranolol). Preliminary data support the association of beta blockers with flecainide. After a cardiac arrest, an implantable cardioverter defibrillator (ICD) should be implanted, but it is accompanied by a disquietingly high incidence of adverse effects. After syncope on beta blocker therapy, left cardiac sympathetic denervation is most effective, preserves quality of life, and does not preclude a subsequent ICD implantation.