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Article: Congenital Aneurysm of the Muscular Interventricular Septum Associated With Bifascicular Block.

Nguyen, Hoang H / Jay, Patrick Y

2022 Volume 14, Issue 10, Page(s) e29994

Abstract: Isolated congenital aneurysm of the muscular interventricular septum is rare. We present a patient with congenital aneurysm of the basal muscular ventricular septum, who also develops conduction abnormalities with first-degree heart block, right bundle ... ...

Abstract	Isolated congenital aneurysm of the muscular interventricular septum is rare. We present a patient with congenital aneurysm of the basal muscular ventricular septum, who also develops conduction abnormalities with first-degree heart block, right bundle branch block, and left posterior fascicular block. The case details the natural history of the aneurysm over a 10-year period follow-up during which the patient remained asymptomatic with evidence of regression of the aneurysm. Given the aneurysm's location close to the proximal right bundle and left posterior fascicle, we believe that the cause for the aneurysm also injured both fascicles resulting in bifascicular block. The diagnosis of bifascicular block was confirmed using the electrocardiogram-derived vectorcardiography loops. These conduction abnormalities have remained stable. The case illustrates the utility of vectorcardiography in diagnosing bundle branch conduction defects. The case also illustrates the importance of anatomical considerations when encountering congenital heart defects.
Language	English
Publishing date	2022-10-06
Publishing country	United States
Document type	Case Reports
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.29994
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Article ; Online: Molecules and microbes and cells, Oh My! What mothers give to us besides genes.

Jay, Patrick Y / Watanabe, Michiko

Birth defects research

2019 Volume 110, Issue 20, Page(s) 1491–1493

MeSH term(s)	Female ; Humans ; Maternal Inheritance/genetics ; Maternal Inheritance/physiology ; Microbiota ; Mothers ; Pregnancy ; Prenatal Exposure Delayed Effects/physiopathology
Language	English
Publishing date	2019-02-12
Publishing country	United States
Document type	Editorial ; Introductory Journal Article
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.1440
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Article: Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.

Walton, Nephi A / Nguyen, Hoang H / Procknow, Sara S / Johnson, Darren / Anzelmi, Alexander / Jay, Patrick Y

Biology

2023 Volume 12, Issue 10

Abstract: About 15% of congenital heart disease (CHD) patients have a known pathogenic copy number variant. The majority of their chromosomal microarray (CMA) tests are deemed normal. Diagnostic interpretation typically ignores microdeletions smaller than 100 kb. ... ...

Abstract	About 15% of congenital heart disease (CHD) patients have a known pathogenic copy number variant. The majority of their chromosomal microarray (CMA) tests are deemed normal. Diagnostic interpretation typically ignores microdeletions smaller than 100 kb. We hypothesized that unreported microdeletions are enriched for CHD genes. We analyzed "normal" CMAs of 1762 patients who were evaluated at a pediatric referral center, of which 319 (18%) had CHD. Using CMAs from monozygotic twins or replicates from the same individual, we established a size threshold based on probe count for the reproducible detection of small microdeletions. Genes in the microdeletions were sequentially filtered by their nominal association with a CHD diagnosis, the expression level in the fetal heart, and the deleteriousness of a loss-of-function mutation. The subsequent enrichment for CHD genes was assessed using the presence of known or potentially novel genes implicated by a large whole-exome sequencing study of CHD. The unreported microdeletions were modestly enriched for both known CHD genes and those of unknown significance identified using their de novo mutation in CHD patients. Our results show that readily available "normal" CMA data can be a fruitful resource for genetic discovery and that smaller deletions should receive more attention in clinical evaluation.
Language	English
Publishing date	2023-09-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2661517-4
ISSN	2079-7737
ISSN	2079-7737
DOI	10.3390/biology12101290
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Article ; Online: Pharmacokinetics and Pharmacodynamics of Patisiran in Patients with hATTR Amyloidosis and with Polyneuropathy After Liver Transplantation.

Badri, Prajakta / Habtemariam, Bahru / Melch, Megan / Clausen, Valerie A / Arum, Seth / Li, Xingyu / Jay, Patrick Y / Vest, John / Robbie, Gabriel J

Clinical pharmacokinetics

2023 Volume 62, Issue 10, Page(s) 1509–1522

Abstract: Background and objective: Variants of the transthyretin (TTR) gene cause hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis (v for variant), which results from deposition of misfolded TTR protein as amyloid in organs and tissues. ...

Abstract	Background and objective: Variants of the transthyretin (TTR) gene cause hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis (v for variant), which results from deposition of misfolded TTR protein as amyloid in organs and tissues. Patisiran is an RNA interference (RNAi) therapeutic that suppresses the hepatic production of TTR protein. Patisiran improves multiple clinical manifestations of hATTR amyloidosis in patients without liver transplantation (LT). Because the liver is the predominant source of circulating TTR, LT has been prescribed to eliminate the production of the variant TTR. However, the continued production of wild-type TTR can contribute to disease progression after LT. Patisiran could potentially address an unmet need in these affected patients. This clinical trial was conducted to evaluate the safety, efficacy, and pharmacokinetics (PK) and pharmacodynamics (PD) of patisiran in patients with hATTR amyloidosis with polyneuropathy progression after LT. In this paper, we describe the PK/PD of patisiran in post-LT patients and compare it with prior patisiran studies in healthy subjects and patients without LT. Methods: In an open-label study, patients (N = 23) with hATTR amyloidosis with polyneuropathy progression after LT received 0.3 mg/kg patisiran intravenously every 3 weeks (q3w) for 12 months. As a post hoc analysis, the PK and PD results from the current study were compared with prior patisiran studies in healthy volunteers from a Phase 1 study and in patients with hATTR amyloidosis without LT from Phase 2 and 3 studies. Results: The PK profile of patisiran siRNA (ALN-18328) and its 2 lipid excipients, DLin-MC3-DMA and PEG2000-C-DMG, in hATTR amyloidosis patients after LT was consistent with prior patisiran studies in non-LT subjects. Plasma PK profiles of ALN-18328 and DLin-MC3-DMA exhibited 2 phases, the first characterized by a short distribution half-life and the second by a minor peak and relatively long elimination half-life. The plasma concentrations of PEG Conclusions: The consistency of patisiran PK and PD between patients with and without LT suggests that neither LT nor concomitantly administered immunosuppressants influence hepatic uptake or RNAi activity of patisiran. The patisiran dosing regimen of 0.3 mg/kg q3w is appropriate for hATTR amyloidosis patients with or without LT. Clinical trial registration no: NCT03862807.
MeSH term(s)	Humans ; Liver Transplantation/adverse effects ; Prealbumin/genetics ; RNA, Small Interfering ; Amyloidosis
Chemical Substances	patisiran (50FKX8CB2Y) ; Prealbumin ; RNA, Small Interfering
Language	English
Publishing date	2023-08-28
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	197627-8
ISSN	1179-1926 ; 0312-5963
ISSN (online)	1179-1926
ISSN	0312-5963
DOI	10.1007/s40262-023-01292-w
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Article ; Online: The Heritable Basis of Congenital Heart Disease: Past, Present, and Future.

Nogee, Julie M / Jay, Patrick Y

Circulation. Cardiovascular genetics

2016 Volume 9, Issue 4, Page(s) 315–317

MeSH term(s)	Exome ; Heart Defects, Congenital/genetics ; Humans ; Mutation ; Pedigree
Language	English
Publishing date	2016-08-16
Publishing country	United States
Document type	Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	2477394-3
ISSN	1942-3268 ; 1942-325X
ISSN (online)	1942-3268
ISSN	1942-325X
DOI	10.1161/CIRCGENETICS.116.001559
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Article ; Online: Rhythm genes sing more than one tune: noncanonical functions of cardiac ion channels.

Akhirome, Ehiole / Jay, Patrick Y

Circulation. Arrhythmia and electrophysiology

2015 Volume 8, Issue 2, Page(s) 261–262

MeSH term(s)	Abnormalities, Drug-Induced/prevention & control ; Animals ; ERG1 Potassium Channel ; Embryonic Stem Cells/drug effects ; Ether-A-Go-Go Potassium Channels/antagonists & inhibitors ; Ether-A-Go-Go Potassium Channels/genetics ; Fetal Death ; Heart Defects, Congenital/prevention & control ; Humans ; Mutation, Missense ; Neovascularization, Physiologic/drug effects ; Phenethylamines/toxicity ; Potassium Channel Blockers/toxicity ; Sulfonamides/toxicity ; Transforming Growth Factor beta/pharmacology ; Vascular Malformations/prevention & control
Chemical Substances	ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; Phenethylamines ; Potassium Channel Blockers ; Sulfonamides ; Transforming Growth Factor beta ; dofetilide (R4Z9X1N2ND)
Language	English
Publishing date	2015-04
Publishing country	United States
Document type	Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	2426129-4
ISSN	1941-3084 ; 1941-3149
ISSN (online)	1941-3084
ISSN	1941-3149
DOI	10.1161/CIRCEP.115.002834
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Article ; Conference proceedings: The 16th Asian Pacific Congress of Cardiology (APCC).

Jay, Patrick Y

IDrugs : the investigational drugs journal

2008 Volume 11, Issue 3, Page(s) 181–183

MeSH term(s)	Animals ; Cardiology/methods ; Cardiology/trends ; Cardiovascular Diseases/physiopathology ; Cardiovascular Diseases/therapy ; Humans ; Myocardial Infarction/physiopathology ; Myocardial Infarction/therapy ; Pharmacogenetics/methods ; Pharmacogenetics/trends ; Regeneration ; Stem Cell Transplantation/methods ; Stem Cell Transplantation/trends
Language	English
Publishing date	2008-03
Publishing country	England
Document type	Congresses
ZDB-ID	2086568-5
ISSN	2040-3410 ; 1369-7056
ISSN (online)	2040-3410
ISSN	1369-7056
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Article: Tiered Sympathetic Control of Cardiac Function Revealed by Viral Tracing and Single Cell Transcriptome Profiling.

Sharma, Sachin / Littman, Russell / Tompkins, John / Arneson, Douglas / Contreras, Jaime / Dajani, Al-Hassan / Ang, Kaitlyn / Tsanhani, Amit / Sun, Xin / Jay, Patrick Y / Herzog, Herbert / Yang, Xia / Ajijola, Olujimi A

bioRxiv : the preprint server for biology

2023

Abstract: The cell bodies of postganglionic sympathetic neurons innervating the heart primarily reside in the stellate ganglion (SG), alongside neurons innervating other organs and tissues. Whether cardiac-innervating stellate ganglionic neurons (SGNs) exhibit ... ...

Abstract	The cell bodies of postganglionic sympathetic neurons innervating the heart primarily reside in the stellate ganglion (SG), alongside neurons innervating other organs and tissues. Whether cardiac-innervating stellate ganglionic neurons (SGNs) exhibit diversity and distinction from those innervating other tissues is not known. To identify and resolve the transcriptomic profiles of SGNs innervating the heart we leveraged retrograde tracing techniques using adeno-associated virus (AAV) expressing fluorescent proteins (GFP or Td-tomato) with single cell RNA sequencing. We investigated electrophysiologic, morphologic, and physiologic roles for subsets of cardiac-specific neurons and found that three of five adrenergic SGN subtypes innervate the heart. These three subtypes stratify into two subpopulations; high (NA1a) and low (NA1b and NA1c) Npy-expressing cells, exhibit distinct morphological, neurochemical, and electrophysiologic characteristics. In physiologic studies in transgenic mouse models modulating NPY signaling, we identified differential control of cardiac responses by these two subpopulations to high and low stress states. These findings provide novel insights into the unique properties of neurons responsible for cardiac sympathetic regulation, with implications for novel strategies to target specific neuronal subtypes for sympathetic blockade in cardiac disease.
Language	English
Publishing date	2023-01-19
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.01.18.524575
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Article ; Online: Tiered sympathetic control of cardiac function revealed by viral tracing and single cell transcriptome profiling.

Sharma, Sachin / Littman, Russell / Tompkins, John D / Arneson, Douglas / Contreras, Jaime / Dajani, Al-Hassan / Ang, Kaitlyn / Tsanhani, Amit / Sun, Xin / Jay, Patrick Y / Herzog, Herbert / Yang, Xia / Ajijola, Olujimi A

eLife

2023 Volume 12

Abstract	The cell bodies of postganglionic sympathetic neurons innervating the heart primarily reside in the stellate ganglion (SG), alongside neurons innervating other organs and tissues. Whether cardiac-innervating stellate ganglionic neurons (SGNs) exhibit diversity and distinction from those innervating other tissues is not known. To identify and resolve the transcriptomic profiles of SGNs innervating the heart, we leveraged retrograde tracing techniques using adeno-associated virus (AAV) expressing fluorescent proteins (GFP or Td-tomato) with single cell RNA sequencing. We investigated electrophysiologic, morphologic, and physiologic roles for subsets of cardiac-specific neurons and found that three of five adrenergic SGN subtypes innervate the heart. These three subtypes stratify into two subpopulations; high (NA1a) and low (NA1b and NA1c) neuropeptide-Y (NPY) -expressing cells, exhibit distinct morphological, neurochemical, and electrophysiologic characteristics. In physiologic studies in transgenic mouse models modulating NPY signaling, we identified differential control of cardiac responses by these two subpopulations to high and low stress states. These findings provide novel insights into the unique properties of neurons responsible for cardiac sympathetic regulation, with implications for novel strategies to target specific neuronal subtypes for sympathetic blockade in cardiac disease.
MeSH term(s)	Mice ; Animals ; Neurons/metabolism ; Stellate Ganglion/metabolism ; Heart ; Neuropeptide Y/metabolism ; Gene Expression Profiling
Chemical Substances	Neuropeptide Y
Language	English
Publishing date	2023-05-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.86295
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Article ; Online: A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome.

Nguyen, Hoang H / Jay, Patrick Y

The Journal of pediatrics

2014 Volume 165, Issue 1, Page(s) 194–196

Abstract: Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common ... ...

Abstract	Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.
MeSH term(s)	Child, Preschool ; Down Syndrome/complications ; Down Syndrome/physiopathology ; Heart Septal Defects ; Humans ; Infant ; Mitral Valve Insufficiency/complications ; Mitral Valve Insufficiency/epidemiology ; Mitral Valve Insufficiency/physiopathology ; Tetralogy of Fallot/complications ; Tetralogy of Fallot/epidemiology ; Tetralogy of Fallot/physiopathology
Language	English
Publishing date	2014-04-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2014.02.065
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