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Article ; Online: Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.

Arnold, Danielle E / Pai, Sung-Yun

2023 Volume 35, Issue 6, Page(s) 663–670

Abstract: Purpose of review: Hematopoietic stem cell-based therapies, including allogeneic hematopoietic cell transplantation (HCT) and autologous gene therapy (GT), have been used as curative therapy for many inborn errors of immunity (IEI). As the number of ... ...

Abstract	Purpose of review: Hematopoietic stem cell-based therapies, including allogeneic hematopoietic cell transplantation (HCT) and autologous gene therapy (GT), have been used as curative therapy for many inborn errors of immunity (IEI). As the number of genetically defined IEI and the use of HCT and GT increase, valuable data on outcomes and approaches for specific disorders are available. We review recent progress in HCT and GT for IEI in this article. Recent findings: Novel approaches to prevention of allogeneic complications and experience in adolescents and young adults have expanded the use of HCT. Universal newborn screening for severe combined immunodeficiency (SCID) has led to improved outcome after HCT. Analysis of outcomes of HCT and GT for SCID, Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD) reveal risk factors for survival, the impact of specific conditioning regimens, and vector- or disease-specific impacts on efficacy and safety. Preclinical studies of GT and gene editing show potential for translation to the clinic. Summary: Emerging data on outcome after HCT for specific IEI support early evaluation and treatment, before development of co-morbidities. Data in large cooperative retrospective databases continues to yield valuable insights clinicians can use in patient selection and choice of therapy.
MeSH term(s)	Infant, Newborn ; Adolescent ; Young Adult ; Humans ; Retrospective Studies ; Hematopoietic Stem Cells ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/therapy ; Hematopoietic Stem Cell Transplantation/adverse effects ; Granulomatous Disease, Chronic
Language	English
Publishing date	2023-09-21
Publishing country	United States
Document type	Review ; Journal Article ; Research Support, N.I.H., Intramural
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/MOP.0000000000001292
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Article ; Online: GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.

Rajput, Roma V / Arnold, Danielle E

Current hematologic malignancy reports

2023 Volume 18, Issue 4, Page(s) 89–97

Abstract: Purpose of review: GATA2 deficiency is a haploinsufficiency syndrome associated with a wide spectrum of disease, including severe monocytopenia and B and NK lymphopenia, predisposition to myeloid malignancies, human papillomavirus infections, and ... ...

Abstract	Purpose of review: GATA2 deficiency is a haploinsufficiency syndrome associated with a wide spectrum of disease, including severe monocytopenia and B and NK lymphopenia, predisposition to myeloid malignancies, human papillomavirus infections, and infections with opportunistic organisms, particularly nontuberculous mycobacteria, herpes virus, and certain fungi. GATA2 mutations have variable penetrance and expressivity with imperfect genotype-phenotype correlations. However, approximately 75% of patients will develop a myeloid neoplasm at some point. Allogeneic hematopoietic cell transplantation (HCT) is the only currently available curative therapy. Here, we review the clinical manifestations of GATA2 deficiency, characterization of the hematologic abnormalities and progression to myeloid malignancy, and current HCT practices and outcomes. Recent findings: Cytogenetic abnormalities are common with high rates of trisomy 8, monosomy 7, and unbalanced translocation der(1;7) and may suggest an underlying GATA2 deficiency in patients presenting with myelodysplastic syndrome (MDS). Mutations in ASXL1 and STAG2 are the most frequently encountered somatic mutations and are associated with lower survival probability. A recent report of 59 patients with GATA2 deficiency who underwent allogenic HCT with myeloablative, busulfan-based conditioning and post-transplant cyclophosphamide reported excellent overall and event-free survival of 85% and 82% with reversal of disease phenotype and low rates of graft versus host disease. Allogeneic HCT with myeloablative conditioning results in disease correction and should be considered for patients with a history of recurrent, disfiguring and/or severe infections, organ dysfunction, MDS with cytogenetic abnormalities, high-risk somatic mutations or transfusion dependence, or myeloid progression. Improved genotype/phenotype correlations are needed to allow for greater predictive capabilities.
MeSH term(s)	Humans ; Chromosome Aberrations ; Disease Susceptibility ; GATA2 Deficiency/diagnosis ; GATA2 Deficiency/genetics ; GATA2 Deficiency/therapy ; GATA2 Transcription Factor/genetics ; Genotype ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/therapy ; Myelodysplastic Syndromes/pathology ; Myeloproliferative Disorders ; Neoplasms
Chemical Substances	GATA2 protein, human ; GATA2 Transcription Factor
Language	English
Publishing date	2023-05-29
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2229765-0
ISSN	1558-822X ; 1558-8211
ISSN (online)	1558-822X
ISSN	1558-8211
DOI	10.1007/s11899-023-00695-7
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Article ; Online: Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy.

DeBartolo, Danielle / Arnold, Frederick J / Liu, Yuhong / Molotsky, Elana / Tang, Hsin-Yao / Merry, Diane E

JCI insight

2024 Volume 9, Issue 7

Abstract: Prior studies showed that polyglutamine-expanded androgen receptor (AR) is aberrantly acetylated and that deacetylation of the mutant AR by overexpression of nicotinamide adenine dinucleotide-dependent (NAD+-dependent) sirtuin 1 is protective in cell ... ...

Abstract	Prior studies showed that polyglutamine-expanded androgen receptor (AR) is aberrantly acetylated and that deacetylation of the mutant AR by overexpression of nicotinamide adenine dinucleotide-dependent (NAD+-dependent) sirtuin 1 is protective in cell models of spinal and bulbar muscular atrophy (SBMA). Based on these observations and reduced NAD+ in muscles of SBMA mouse models, we tested the therapeutic potential of NAD+ restoration in vivo by treating postsymptomatic transgenic SBMA mice with the NAD+ precursor nicotinamide riboside (NR). NR supplementation failed to alter disease progression and had no effect on increasing NAD+ or ATP content in muscle, despite producing a modest increase of NAD+ in the spinal cords of SBMA mice. Metabolomic and proteomic profiles of SBMA quadriceps muscles indicated alterations in several important energy-related pathways that use NAD+, in addition to the NAD+ salvage pathway, which is critical for NAD+ regeneration for use in cellular energy production. We also observed decreased mRNA levels of nicotinamide riboside kinase 2 (Nmrk2), which encodes a key kinase responsible for NR phosphorylation, allowing its use by the NAD+ salvage pathway. Together, these data suggest a model in which NAD+ levels are significantly decreased in muscles of an SBMA mouse model and intransigent to NR supplementation because of decreased levels of Nmrk2.
MeSH term(s)	Mice ; Animals ; Bulbo-Spinal Atrophy, X-Linked/genetics ; Bulbo-Spinal Atrophy, X-Linked/metabolism ; NAD/metabolism ; Proteomics ; Muscles/metabolism ; Mice, Transgenic ; Energy Metabolism
Chemical Substances	NAD (0U46U6E8UK)
Language	English
Publishing date	2024-03-05
Publishing country	United States
Document type	Journal Article
ISSN	2379-3708
ISSN (online)	2379-3708
DOI	10.1172/jci.insight.178048
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Article: A proof of concept for a targeted enrichment approach to the simultaneous detection and characterization of rickettsial pathogens from clinical specimens.

Paskey, Adrian C / Schully, Kevin L / Voegtly, Logan J / Arnold, Catherine E / Cer, Regina Z / Frey, Kenneth G / Blair, Paul W / Clark, Danielle V / Ge, Hong / Richards, Allen L / Farris, Christina M / Bishop-Lilly, Kimberly A

Frontiers in microbiology

2024 Volume 15, Page(s) 1387208

Abstract: Infection with ... ...

Abstract	Infection with either
Language	English
Publishing date	2024-04-10
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587354-4
ISSN	1664-302X
ISSN	1664-302X
DOI	10.3389/fmicb.2024.1387208
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Article ; Online: The Use of Biologic Modifiers as a Bridge to Hematopoietic Cell Transplantation in Primary Immune Regulatory Disorders.

Arnold, Danielle E / Chellapandian, Deepak / Leiding, Jennifer W

Frontiers in immunology

2021 Volume 12, Page(s) 692219

Abstract: Recently, primary immune regulatory disorders have been described as a subset of inborn errors of immunity that are dominated by immune mediated pathology. As the pathophysiology of disease is elucidated, use of biologic modifiers have been increasingly ... ...

Abstract	Recently, primary immune regulatory disorders have been described as a subset of inborn errors of immunity that are dominated by immune mediated pathology. As the pathophysiology of disease is elucidated, use of biologic modifiers have been increasingly used successfully to treat disease mediated clinical manifestations. Hematopoietic cell transplant (HCT) has also provided definitive therapy in several PIRDs. Although biologic modifiers have been largely successful at treating disease related manifestations, data are lacking regarding long term efficacy, safety, and their use as a bridge to HCT. This review highlights biologic modifiers in the treatment of several PIRDs and there use as a therapeutic bridge to HCT.
MeSH term(s)	Biological Products/therapeutic use ; Hematopoietic Stem Cell Transplantation ; Humans ; Immune System Diseases/drug therapy ; Immune System Diseases/genetics ; STAT1 Transcription Factor/genetics ; STAT3 Transcription Factor/genetics
Chemical Substances	Biological Products ; STAT1 Transcription Factor ; STAT1 protein, human ; STAT3 Transcription Factor ; STAT3 protein, human
Language	English
Publishing date	2021-06-24
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2021.692219
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Article ; Online: What facilitates policy audacity in tobacco control? An analysis of approaches and supportive factors for innovation in seven countries.

Hefler, Marita / Bianco, Eduardo / Bradbrook, Shane / Arnold, Daniëlle / Dorotheo, E Ulysses

Tobacco control

2022 Volume 31, Issue 2, Page(s) 328–334

Abstract: Background: Tobacco control policy audacity can make radical ideas seem possible, and set in motion a 'domino' effect, where precedents in one jurisdiction are followed by others. This review examines tobacco control policy audacity from seven countries ...

Abstract	Background: Tobacco control policy audacity can make radical ideas seem possible, and set in motion a 'domino' effect, where precedents in one jurisdiction are followed by others. This review examines tobacco control policy audacity from seven countries to identify and compare factors that facilitated it. Methods: A targeted search strategy and purposive sampling approach was used to identify information from a range of sources and analyse key supportive factors for policy audacity. Each case was summarised, then key themes identified and compared across jurisdictions to identify similarities and differences. Results: Included cases were Mauritius' ban on tobacco industry corporate social responsibility, Uruguay's tobacco single brand presentation regulations, New Zealand's Smokefree Aotearoa 2025 Action Plan proposals and 2010 parliamentary Māori Affairs Select Committee Inquiry into the Tobacco Industry, Australia's plain packaging legislation, Balanga City's (Philippines) tobacco-free generation ordinance, Beverly Hills City Council's (USA) ordinance to ban tobacco sales and the Netherlands' policy plan to phase out online and supermarket tobacco sales. Each case was one strategy within a well-established comprehensive tobacco control and public health approach. Intersectoral and multijurisdiction collaboration, community engagement and public support, a strong theoretical evidence base and lessons learnt from previous tobacco control policies were important supportive factors, as was public support to ensure low political risk for policy makers. Conclusions: Tobacco control policy audacity is usually an extension of existing measures and typically appears as 'the next logical step' and therefore within the risk appetite of policy makers in settings where it occurs.
MeSH term(s)	Humans ; Product Packaging ; Public Policy ; Nicotiana ; Tobacco Industry ; Tobacco Products
Language	English
Publishing date	2022-03-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1146554-2
ISSN	1468-3318 ; 0964-4563
ISSN (online)	1468-3318
ISSN	0964-4563
DOI	10.1136/tobaccocontrol-2021-056570
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Article ; Online: Clinical evaluation of a novel plasma pTau217 electrochemiluminescence immunoassay in Alzheimer's disease.

Kivisäkk, Pia / Fatima, Hadia A / Cahoon, Danielle S / Otieno, Brunah / Chacko, Leena / Minooei, Farnaz / Demos, Catherine / Stengelin, Martin / Sigal, George / Wohlstadter, Jacob / Arnold, Steven E

Scientific reports

2024 Volume 14, Issue 1, Page(s) 629

Abstract: A growing literature suggests that plasma levels of tau phosphorylated at amino acid 217 (pTau217) performs similarly to cerebrospinal fluid (CSF) biomarkers and PET imaging to detect amyloid pathology and to provide diagnostic and prognostic information ...

Abstract	A growing literature suggests that plasma levels of tau phosphorylated at amino acid 217 (pTau217) performs similarly to cerebrospinal fluid (CSF) biomarkers and PET imaging to detect amyloid pathology and to provide diagnostic and prognostic information in Alzheimer's disease (AD), but a significant limiting factor thus far has been a lack of widely available immunoassays. We evaluated a novel pTau217 S-PLEX® assay developed by Meso Scale Discovery (MSD; Rockville, MD) in plasma from 131 individuals with AD confirmed by CSF biomarkers and controls. Technical performance of the assay was excellent with an LLOQ of 1.84 pg/mL and intra/interplate CVs of 5.5% (0.3-15.0%) and 5.7% (range 0.3-13.4%), respectively. The pTau217 plasma assay differentiated AD and controls with an AUC of 0.98 (95% CI 0.96-1.0) and pTau217 levels were 3.9-fold higher in individuals with AD. This performance was significantly better than what was observed for plasma pTau181, performed in parallel, and comparable to published data on existing pTau217 assays. While further clinical validation and head-to-head comparisons are needed to fully establish the role for the novel pTau217 S-PLEX assay, these data demonstrate the utility of the assay to detect AD pathology.
MeSH term(s)	Humans ; Alzheimer Disease/diagnostic imaging ; Immunologic Tests ; Amino Acids ; Amyloidogenic Proteins ; Biomarkers
Chemical Substances	Amino Acids ; Amyloidogenic Proteins ; Biomarkers
Language	English
Publishing date	2024-01-05
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-51334-x
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Article ; Online: Efficacy and safety results after >3.5 years of treatment with the Bruton's tyrosine kinase inhibitor evobrutinib in relapsing multiple sclerosis: Long-term follow-up of a Phase II randomised clinical trial with a cerebrospinal fluid sub-study.

Montalban, Xavier / Piasecka-Stryczynska, Karolina / Kuhle, Jens / Benkert, Pascal / Arnold, Douglas L / Weber, Martin S / Seitzinger, Andrea / Guehring, Hans / Shaw, Jamie / Tomic, Davorka / Hyvert, Yann / Harlow, Danielle E / Dyroff, Martin / Wolinsky, Jerry S

Multiple sclerosis (Houndmills, Basingstoke, England)

2024 Volume 30, Issue 4-5, Page(s) 558–570

Abstract: Background: Evobrutinib - an oral, central nervous system (CNS)-penetrant, and highly selective Bruton's tyrosine kinase inhibitor - has shown efficacy in a 48-week, double-blind, Phase II trial in patients with relapsing MS.: Objective: Report ... ...

Abstract	Background: Evobrutinib - an oral, central nervous system (CNS)-penetrant, and highly selective Bruton's tyrosine kinase inhibitor - has shown efficacy in a 48-week, double-blind, Phase II trial in patients with relapsing MS. Objective: Report results of the Phase II open-label extension (OLE; up to week 192 from randomisation) and a cerebrospinal fluid (CSF) sub-study. Methods: In the 48-week double-blind period (DBP), patients received evobrutinib 25 mg once-daily, 75 mg once-daily, 75 mg twice-daily or placebo (switched to evobrutinib 25 mg once-daily after week 24). Patients could then enter the OLE, receiving evobrutinib 75 mg once-daily (mean (± standard deviation (SD)) duration = 50.6 weeks (±6.0)) before switching to 75 mg twice-daily. Results: Of 164 evobrutinib-treated patients who entered the OLE, 128 (78.0%) completed ⩾192 weeks of treatment. Patients receiving DBP evobrutinib 75 mg twice-daily: annualised relapse rate at week 48 (0.11 (95% confidence interval (CI) = 0.04-0.25)) was maintained with the OLE twice-daily dose up to week 192 (0.11 (0.05-0.22)); Expanded Disability Status Scale score remained stable; serum neurofilament light chain fell to levels like a non-MS population ( Conclusion: Long-term evobrutinib treatment was well tolerated and associated with a sustained low level of disease activity. Evobrutinib was present in CSF at concentrations similar to plasma.
MeSH term(s)	Humans ; Multiple Sclerosis/drug therapy ; Tyrosine Kinase Inhibitors ; Follow-Up Studies ; Recurrence ; Double-Blind Method ; Treatment Outcome ; Piperidines ; Pyrimidines
Chemical Substances	evobrutinib (ZA45457L1K) ; Tyrosine Kinase Inhibitors ; Piperidines ; Pyrimidines
Language	English
Publishing date	2024-03-04
Publishing country	England
Document type	Randomized Controlled Trial ; Clinical Trial, Phase II ; Journal Article
ZDB-ID	1290669-4
ISSN	1477-0970 ; 1352-4585
ISSN (online)	1477-0970
ISSN	1352-4585
DOI	10.1177/13524585241234783
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Article ; Online: Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.

Gillingham, Melanie B / Choi, Dongseok / Gregor, Ashley / Wongchaisuwat, Nida / Black, Danielle / Scanga, Hannah L / Nischal, Ken K / Sahel, Jose-Alain / Arnold, Georgianne / Vockley, Jerry / Harding, Cary O / Pennesi, Mark E

Journal of inherited metabolic disease

2024

Abstract: Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We ... ...

Abstract	Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long-chain fat restriction, MCT, C7, and/or carnitine supplementation. Visual acuity, rod- and cone-driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed-effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.
Language	English
Publishing date	2024-04-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12738
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Article ; Online: A proposal for an updated staging system for LCHADD retinopathy.

Wongchaisuwat, Nida / Gillingham, Melanie B / Yang, Paul / Everett, Lesley / Gregor, Ashley / Harding, Cary O / Sahel, Jose Alain / Nischal, Ken K / Scanga, Hannah L / Black, Danielle / Vockley, Jerry / Arnold, Georgianne / Pennesi, Mark E

Ophthalmic genetics

2024 Volume 45, Issue 2, Page(s) 140–146

Abstract: Objective: To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology.: Methods: We evaluated forty cases of patients ...

Abstract	Objective: To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology. Methods: We evaluated forty cases of patients with genetically confirmed LCHADD or trifunctional protein deficiency (TFPD) enrolled in a prospective natural history study. Wide-field fundus photographs, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ffERG) were reviewed and graded for severity. Results: Two independent experts first graded fundus photos and electrophysiology to classify the stage of chorioretinopathy based upon an existing published system. With newer imaging modalities and improved electrophysiology, many patients did not fit cleanly into a single traditional staging group. Therefore, we developed a novel staging system that better delineated the progression of LCHADD retinopathy. We maintained the four previous delineated stages but created substages A and B in stages 2 to 3 to achieve better differentiation. Discussion: Previous staging systems of LCHADD chorioretinopathy relied on only on the assessment of standard 30 to 45-degree fundus photographs, visual acuity, fluorescein angiography (FA), and ffERG. Advances in recordings of ffERG and multimodal imaging with wider fields of view, allow better assessment of retinal changes. Following these advanced assessments, seven patients did not fit neatly into the original classification system and were therefore recategorized under the new proposed system. Conclusion: The new proposed staging system improves the classification of LCHADD chorioretinopathy, with the potential to lead to a deeper understanding of the disease's progression and serve as a more reliable reference point for future therapeutic research.
MeSH term(s)	Humans ; Prospective Studies ; Retinal Diseases/diagnosis ; Nervous System Diseases ; Retina/metabolism ; Choroid Diseases ; Tomography, Optical Coherence ; Fluorescein Angiography/methods ; Mitochondrial Myopathies ; Rhabdomyolysis ; Lipid Metabolism, Inborn Errors ; Mitochondrial Trifunctional Protein/deficiency ; Cardiomyopathies
Chemical Substances	Mitochondrial Trifunctional Protein (EC 2.3.1.16)
Language	English
Publishing date	2024-01-30
Publishing country	England
Document type	Journal Article
ZDB-ID	1199279-7
ISSN	1744-5094 ; 0167-6784 ; 1381-6810
ISSN (online)	1744-5094
ISSN	0167-6784 ; 1381-6810
DOI	10.1080/13816810.2024.2303682
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