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  1. Article ; Online: Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.

    Jiang, Xiaofan / Bhatti, Taha / Tariq, Ambreen / Leo, Shaun M / Aychoua, Nancy / Webster, Andrew R / Hysi, Pirro G / Hammond, Christopher J / Mahroo, Omar A

    Documenta ophthalmologica. Advances in ophthalmology

    2023  Volume 148, Issue 1, Page(s) 25–36

    Abstract: Purpose: Both rod and cone-driven signals contribute to the electroretinogram (ERG) elicited by a standard strong flash in the dark. Negative ERGs usually reflect inner retinal dysfunction. However, in diseases where rod photoreceptor function is ... ...

    Abstract Purpose: Both rod and cone-driven signals contribute to the electroretinogram (ERG) elicited by a standard strong flash in the dark. Negative ERGs usually reflect inner retinal dysfunction. However, in diseases where rod photoreceptor function is selectively lost, a negative waveform might represent the response of the dark-adapted cone system. To investigate the dark-adapted cone-driven waveform in healthy individuals, we delivered flashes on a dim blue background, designed to saturate the rods, but minimally adapt the cones.
    Methods: ERGs were recorded, using conductive fibre electrodes, in adults from the TwinsUK cohort. Responses to 13 cd m
    Results: Mean (SD) participant age was 62.5 (11.3) years (93% female). ERGs from 203 right and 204 left eyes were included, with mean (SD) b/a ratios of 1.22 (0.28) and 1.18 (0.28), respectively (medians, 1.19 and 1.17). Proportions with negative waveforms were 23 and 26%, respectively. Right and left eye b/a ratios were strongly correlated (correlation coefficient 0.74, p < 0.0001). We found no significant correlation of b/a ratio with age.
    Conclusions: Over 20% of eyes showed b/a ratios less than 1, consistent with the notion that dark-adapted cone-driven responses to standard bright flashes can have negative waveforms. The majority had ratios greater than 1. Thus, whilst selective loss of rod function can yield a negative waveform (with reduced a-wave) in some, our findings also suggest that loss of rod function can occur without necessarily yielding a negative ERG. One potential limitation is possible mild cone system adaptation by the background.
    MeSH term(s) Adult ; Humans ; Female ; Middle Aged ; Male ; Electroretinography ; Prevalence ; Dark Adaptation ; Photic Stimulation ; Retinal Cone Photoreceptor Cells/physiology
    Language English
    Publishing date 2023-11-04
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 212594-8
    ISSN 1573-2622 ; 0012-4486
    ISSN (online) 1573-2622
    ISSN 0012-4486
    DOI 10.1007/s10633-023-09957-4
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  2. Article ; Online: Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.

    Jiang, Xiaofan / Xu, Zihe / Soorma, Talha / Tariq, Ambreen / Bhatti, Taha / Baneke, Alexander J / Pontikos, Nikolas / Leo, Shaun M / Webster, Andrew R / Williams, Katie M / Hammond, Christopher J / Hysi, Pirro G / Mahroo, Omar A

    Proceedings of the National Academy of Sciences of the United States of America

    2022  Volume 119, Issue 21, Page(s) e2119675119

    Abstract: Myopia is the commonest visual impairment. Several genetic loci confer risk, but mechanisms by which they do this are unknown. Retinal signals drive eye growth, and myopia usually results from an excessively long eye. The common variant most strongly ... ...

    Abstract Myopia is the commonest visual impairment. Several genetic loci confer risk, but mechanisms by which they do this are unknown. Retinal signals drive eye growth, and myopia usually results from an excessively long eye. The common variant most strongly associated with myopia is near the GJD2 gene, encoding connexin-36, which forms retinal gap junctions. Light-evoked responses of retinal neurons can be recorded noninvasively as the electroretinogram (ERG). We analyzed these responses from 186 adult twin volunteers who had been genotyped at this locus. Participants underwent detailed ERG recordings incorporating international standard stimuli as well as experimental protocols aiming to separate dark-adapted rod- and cone-driven responses. A mixed linear model was used to explore association between allelic dosage at the locus and international standard ERG parameters after adjustment for age, sex, and family structure. Significant associations were found for parameters of light-adapted, but not dark-adapted, responses. Further investigation of isolated rod- and cone-driven ERGs confirmed associations with cone-driven, but not rod-driven, a-wave amplitudes. Comparison with responses to similar experimental stimuli from a patient with a prior central retinal artery occlusion, and from two patients with selective loss of ON-bipolar cell signals, was consistent with the associated parameters being derived from signals from cone-driven OFF-bipolar cells. Analysis of single-cell transcriptome data revealed strongest GJD2 expression in cone photoreceptors; bipolar cell expression appeared strongest in OFF-bipolar cells and weakest in rod-driven ON-bipolar cells. Our findings support a potential role for altered signaling in cone-driven OFF pathways in myopia development.
    MeSH term(s) Electroretinography/methods ; Genome-Wide Association Study ; Humans ; Myopia/genetics ; Myopia/metabolism ; Polymorphism, Genetic ; Retinal Cone Photoreceptor Cells/metabolism ; Retinal Rod Photoreceptor Cells/metabolism
    Language English
    Publishing date 2022-05-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.2119675119
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  3. Article ; Online: Prevalence of electronegative electroretinograms in a healthy adult cohort.

    Jiang, Xiaofan / Bhatti, Taha / Tariq, Ambreen / Williams, Katie M / Chow, Isabelle / Dar, Talib / Webster, Andrew R / Hysi, Pirro G / Hammond, Christopher J / Mahroo, Omar A

    BMJ open ophthalmology

    2021  Volume 6, Issue 1, Page(s) e000751

    Abstract: Objective: An electronegative electroretinogram (ERG) can indicate important ocular or systemic disease. This study explored the prevalence of electronegative responses to dark-adapted stimuli in a largely healthy cohort.: Methods and analysis: 211 ... ...

    Abstract Objective: An electronegative electroretinogram (ERG) can indicate important ocular or systemic disease. This study explored the prevalence of electronegative responses to dark-adapted stimuli in a largely healthy cohort.
    Methods and analysis: 211 participants recruited from the TwinsUK cohort underwent ERG testing incorporating international standard (International Society for Clinical Electrophysiology of Vision (ISCEV)) protocols and additional stimuli. Responses were recorded using conductive fibre electrodes, following pupil dilation and 20 min dark adaptation. Responses analysed were to the ISCEV standard and strong flashes (3.0 and 10 cd/m
    Results: Mean (SD) age was 62.4 (11.4) years (median, 64.3; range 23-86 years). 93% were female. Mean (SD) b:a ratios for right and left eyes, respectively, were 1.86 (0.33) and 1.81 (0.29) for the standard flash, and 1.62 (0.25) and 1.58 (0.23) for the stronger flash; average b:a ratio was lower for the stronger flash (p<0.0001). No waveforms were electronegative. For additional flashes, b:a ratio decreased with increasing flash strength. No electronegative waveforms were seen except in three eyes (0.7%) for the strongest flash; in some cases, drift in the waveform may have artefactually reduced the b:a ratio.
    Conclusion: For standard dark-adapted stimuli, no participants had electronegative waveforms. The findings support the notion that electronegative waveforms (in response to standard flash strengths) are unusual, and should prompt further investigation.
    Language English
    Publishing date 2021-07-19
    Publishing country England
    Document type Journal Article
    ISSN 2397-3269
    ISSN (online) 2397-3269
    DOI 10.1136/bmjophth-2021-000751
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  4. Article ; Online: Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.

    Bhatti, Taha / Tariq, Ambreen / Shen, Ting / Williams, Katie M / Hammond, Christopher J / Mahroo, Omar A

    Ophthalmology

    2017  Volume 124, Issue 8, Page(s) 1175–1185

    Abstract: Purpose: To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age.: Design: Prospective, classic twin study.: Participants: Adult monozygotic and dizygotic twin pairs recruited from ... ...

    Abstract Purpose: To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age.
    Design: Prospective, classic twin study.
    Participants: Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort.
    Methods: Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision. These parameters were extracted; in addition, photopic negative-response (PhNR; originating from retinal ganglion cells) and i-wave components were extracted from responses to the photopic single flash. Parameter values were averaged from both eyes.
    Main outcome measures: Mean values were calculated for the cohort. Correlation coefficients with age were calculated (averaging parameters from both twins from each pair). Coefficients of intrapair correlation were calculated for monozygotic and dizygotic twins. Age-adjusted heritability estimates were derived using standard maximum likelihood structural equation twin modeling.
    Results: Responses were recorded from 210 participants in total (59 monozygotic and 46 dizygotic twin pairs). Ninety-three percent were women. Mean age for the cohort was 62.4 years (standard deviation, 11.4 years). In general, response amplitudes correlated negatively, and implicit times positively, with age. Correlations were statistically significant (P < 0.05) and moderate or strong (coefficient, >0.35) for the following parameters: scotopic standard and bright-flash a-wave implicit times, photopic 30-Hz flicker and single-flash b-wave implicit times, and PhNR and i-wave implicit times. Intrapair correlations were higher for monozygotic than dizygotic twins, suggesting important genetic influences. Age-adjusted estimates of heritability were significant for all parameters (except scotopic dim-flash b-wave implicit time), ranging from 0.34 to 0.85. Highest estimates were for photopic single-flash a-wave and b-wave amplitudes (0.84 and 0.85, respectively).
    Conclusions: This study explored heritability of retinal electrophysiologic parameters and included measurements reflecting ganglion cell function. Most parameters showed significant heritability, indicating that genetic factors are important, determining up to 85% of the variance in some cone system response parameters. Scotopic responses tended to show lower heritability (possibly relating to greater rod system susceptibility to environmental factors). Future studies can explore the identity of these genetic factors, improving our understanding of how they shape retinal function.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Color Vision/physiology ; Electroretinography ; Female ; Gene-Environment Interaction ; Humans ; Male ; Middle Aged ; Night Vision/physiology ; Photic Stimulation ; Prospective Studies ; Quantitative Trait, Heritable ; Retina/physiology ; Retinal Ganglion Cells/physiology ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics ; Young Adult
    Language English
    Publishing date 2017-04-20
    Publishing country United States
    Document type Journal Article ; Twin Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 392083-5
    ISSN 1549-4713 ; 0161-6420
    ISSN (online) 1549-4713
    ISSN 0161-6420
    DOI 10.1016/j.ophtha.2017.03.017
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  5. Article ; Online: Systemic redox biomarkers and their relationship to prognostic risk markers in autosomal dominant polycystic kidney disease and IgA nephropathy.

    Tariq, Ambreen / Mansoor, Mohammad A / Marti, Hans-Peter / Jonsson, Grete / Slettan, Audun / Weeraman, Pabasara / Apeland, Terje

    Clinical biochemistry

    2018  Volume 56, Page(s) 33–40

    Abstract: Background: Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN).: Methods: This is a case-control study with ... ...

    Abstract Background: Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN).
    Methods: This is a case-control study with three groups: ADPKD (n = 54), IGAN (n = 58) and healthy controls (n = 86). The major plasma aminothiols with their redox species were examined: homocysteine (Hcy), cysteinglycine (CG), cysteine (Cys) and glutathione (GSH). The redox ratio was the ratio of reduced free and oxidized aminothiols in plasma. We investigated malonedialdehyde (MDA) and advanced oxidation protein products (AOPP), and ten single nucleotide polymorphisms of antioxidant enzymes.
    Results: Patients had elevated oxidized free Hcy and Cys with associated low redox ratios - most pronounced in IGAN. Patients with IGAN had elevated AOPP and possibly MDA. Oxidized free Hcy and Cys with redox ratios were correlated to AOPP, MDA and proteinuria. Furthermore, there was an independent relationship to parathyroid hormone (PTH). IGAN had an elevated frequency of Val16Ala SNP rs4880, which influence the function of mitochondrial superoxide dismutase 2 (p = 0.03).
    Conclusions: Patients with ADPKD and IGAN have evidence of oxidative stress from stage 1 to 4 - most pronounced in IGAN. In patients, aminothiol redox biomarkers were correlated to AOPP, proteinuria and PTH, which are known prognostic markers in CKD. It may be possible that oxidative stress influences PTH dysregulation in CKD. The association between IGAN and the redox related variant allele rs4880(C) might indicate a new susceptibility locus for IGAN, but this needs verification.
    MeSH term(s) Adult ; Advanced Oxidation Protein Products/blood ; Biomarkers/blood ; Case-Control Studies ; Dipeptides/blood ; Dipeptides/chemistry ; Disease Progression ; Female ; Genetic Association Studies ; Glomerulonephritis, IGA/blood ; Glomerulonephritis, IGA/diagnosis ; Glomerulonephritis, IGA/epidemiology ; Glomerulonephritis, IGA/physiopathology ; Homocysteine/blood ; Homocysteine/chemistry ; Humans ; Lipid Peroxidation ; Male ; Middle Aged ; Oxidation-Reduction ; Oxidative Stress ; Oxidoreductases/blood ; Oxidoreductases/genetics ; Oxidoreductases/metabolism ; Polycystic Kidney, Autosomal Dominant/blood ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Polycystic Kidney, Autosomal Dominant/epidemiology ; Polycystic Kidney, Autosomal Dominant/physiopathology ; Polymorphism, Single Nucleotide ; Prognosis ; Risk ; Superoxide Dismutase/blood ; Superoxide Dismutase/genetics ; Superoxide Dismutase/metabolism
    Chemical Substances Advanced Oxidation Protein Products ; Biomarkers ; Dipeptides ; Homocysteine (0LVT1QZ0BA) ; cysteinylglycine (384644SZ9T) ; Oxidoreductases (EC 1.-) ; Superoxide Dismutase (EC 1.15.1.1) ; superoxide dismutase 2 (EC 1.15.1.1)
    Language English
    Publishing date 2018-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 390372-2
    ISSN 1873-2933 ; 0009-9120
    ISSN (online) 1873-2933
    ISSN 0009-9120
    DOI 10.1016/j.clinbiochem.2018.04.010
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  6. Article ; Online: Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

    Bibi, Farah / Efthymiou, Stephanie / Bourinaris, Thomas / Tariq, Ambreen / Zafar, Faisal / Rana, Nouzhat / Salpietro, Vincenzo / Houlden, Henry / Raja, Ghazala Kaukab / Saeed, Sadia / Minhas, Nasir Mahmood

    Journal of the neurological sciences

    2020  Volume 411, Page(s) 116669

    Abstract: Bakground: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants ...

    Abstract Bakground: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP.
    Methods: Whole exome sequencing (WES) was performed in the two families and variants were validated by Sanger sequencing and segregation analysis.
    Analysis: In family A, a homozygous pathogenic variant in ZFYVE26 was identified in one family. While in family B, a frameshift variant in CYP2U1 was identified in 4 affected individuals presented with clinical features of SPG56. Our study is the first report of ZFYVE26 mutations causing HSP in the Pakistani population and the second report of CYP2U1 in a Pakistani family.
    Conclusions: Our findings enhance the clinical and genetic variability associated with two rare autosomal recessive HSP genes, highlighting the complexity of HSPs. These findings further emphasize the usefulness of WES as a powerful diagnostic tool.
    MeSH term(s) Carrier Proteins/genetics ; Cytochrome P450 Family 2/genetics ; Humans ; Mutation/genetics ; Pakistan ; Paraplegia ; Pedigree ; Spastic Paraplegia, Hereditary/genetics
    Chemical Substances Carrier Proteins ; ZFYVE26 protein, human ; CYP2U1 protein, human (EC 1.14.14.1) ; Cytochrome P450 Family 2 (EC 1.14.14.1)
    Language English
    Publishing date 2020-01-11
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2020.116669
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  7. Article ; Online: Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

    Chelban, Viorica / Aksnes, Henriette / Maroofian, Reza / LaMonica, Lauren C / Seabra, Luis / Siggervåg, Anette / Devic, Perrine / Shamseldin, Hanan E / Vandrovcova, Jana / Murphy, David / Richard, Anne-Claire / Quenez, Olivier / Bonnevalle, Antoine / Zanetti, M Natalia / Kaiyrzhanov, Rauan / Salpietro, Vincenzo / Efthymiou, Stephanie / Schottlaender, Lucia V / Morsy, Heba /
    Scardamaglia, Annarita / Tariq, Ambreen / Pagnamenta, Alistair T / Pennavaria, Ajia / Krogstad, Liv S / Bekkelund, Åse K / Caiella, Alessia / Glomnes, Nina / Brønstad, Kirsten M / Tury, Sandrine / Moreno De Luca, Andrés / Boland-Auge, Anne / Olaso, Robert / Deleuze, Jean-François / Anheim, Mathieu / Cretin, Benjamin / Vona, Barbara / Alajlan, Fahad / Abdulwahab, Firdous / Battini, Jean-Luc / İpek, Rojan / Bauer, Peter / Zifarelli, Giovanni / Gungor, Serdal / Kurul, Semra Hiz / Lochmuller, Hanns / Da'as, Sahar I / Fakhro, Khalid A / Gómez-Pascual, Alicia / Botía, Juan A / Wood, Nicholas W / Horvath, Rita / Ernst, Andreas M / Rothman, James E / McEntagart, Meriel / Crow, Yanick J / Alkuraya, Fowzan S / Nicolas, Gaël / Arnesen, Thomas / Houlden, Henry

    Nature communications

    2024  Volume 15, Issue 1, Page(s) 2269

    Abstract: Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six ... ...

    Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. We show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro. In cells, loss of NAA60 caused reduced surface levels of SLC20A2 and a reduction in extracellular phosphate uptake. This study establishes NAA60 as a causal gene for PFBC, provides a possible biochemical explanation of its disease-causing mechanisms and underscores NAA60-mediated Nt-acetylation of transmembrane proteins as a fundamental process for healthy neurobiological functioning.
    MeSH term(s) Humans ; Acetylation ; Brain/diagnostic imaging ; Brain/metabolism ; Brain Diseases/genetics ; Inheritance Patterns ; Mutation ; Phosphates/metabolism ; Sodium-Phosphate Cotransporter Proteins, Type III/metabolism
    Chemical Substances Phosphates ; SLC20A2 protein, human ; Sodium-Phosphate Cotransporter Proteins, Type III ; NAA60 protein, human
    Language English
    Publishing date 2024-03-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-024-46354-0
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  8. Article ; Online: Neurofilament light levels predict clinical progression and death in multiple system atrophy.

    Chelban, Viorica / Nikram, Elham / Perez-Soriano, Alexandra / Wilke, Carlo / Foubert-Samier, Alexandra / Vijiaratnam, Nirosen / Guo, Tong / Jabbari, Edwin / Olufodun, Simisola / Gonzalez, Mariel / Senkevich, Konstantin / Laurens, Brice / Péran, Patrice / Rascol, Olivier / Le Traon, Anne Pavy / Todd, Emily G / Costantini, Alyssa A / Alikhwan, Sondos / Tariq, Ambreen /
    Ng, Bai Lin / Muñoz, Esteban / Painous, Celia / Compta, Yaroslau / Junque, Carme / Segura, Barbara / Zhelcheska, Kristina / Wellington, Henny / Schöls, Ludger / Jaunmuktane, Zane / Kobylecki, Christopher / Church, Alistair / Hu, Michele T M / Rowe, James B / Leigh, P Nigel / Massey, Luke / Burn, David J / Pavese, Nicola / Foltynie, Tom / Pchelina, Sofya / Wood, Nicholas / Heslegrave, Amanda J / Zetterberg, Henrik / Bocchetta, Martina / Rohrer, Jonathan D / Marti, Maria J / Synofzik, Matthis / Morris, Huw R / Meissner, Wassilios G / Houlden, Henry

    Brain : a journal of neurology

    2022  Volume 145, Issue 12, Page(s) 4398–4408

    Abstract: Disease-modifying treatments are currently being trialled in multiple system atrophy. Approaches based solely on clinical measures are challenged by heterogeneity of phenotype and pathogenic complexity. Neurofilament light chain protein has been explored ...

    Abstract Disease-modifying treatments are currently being trialled in multiple system atrophy. Approaches based solely on clinical measures are challenged by heterogeneity of phenotype and pathogenic complexity. Neurofilament light chain protein has been explored as a reliable biomarker in several neurodegenerative disorders but data on multiple system atrophy have been limited. Therefore, neurofilament light chain is not yet routinely used as an outcome measure in multiple system atrophy. We aimed to comprehensively investigate the role and dynamics of neurofilament light chain in multiple system atrophy combined with cross-sectional and longitudinal clinical and imaging scales and for subject trial selection. In this cohort study, we recruited cross-sectional and longitudinal cases in a multicentre European set-up. Plasma and CSF neurofilament light chain concentrations were measured at baseline from 212 multiple system atrophy cases, annually for a mean period of 2 years in 44 multiple system atrophy patients in conjunction with clinical, neuropsychological and MRI brain assessments. Baseline neurofilament light chain characteristics were compared between groups. Cox regression was used to assess survival; receiver operating characteristic analysis to assess the ability of neurofilament light chain to distinguish between multiple system atrophy patients and healthy controls. Multivariate linear mixed-effects models were used to analyse longitudinal neurofilament light chain changes and correlated with clinical and imaging parameters. Polynomial models were used to determine the differential trajectories of neurofilament light chain in multiple system atrophy. We estimated sample sizes for trials aiming to decrease neurofilament light chain levels. We show that in multiple system atrophy, baseline plasma neurofilament light chain levels were better predictors of clinical progression, survival and degree of brain atrophy than the neurofilament light chain rate of change. Comparative analysis of multiple system atrophy progression over the course of disease, using plasma neurofilament light chain and clinical rating scales, indicated that neurofilament light chain levels rise as the motor symptoms progress, followed by deceleration in advanced stages. Sample size prediction suggested that significantly lower trial participant numbers would be needed to demonstrate treatment effects when incorporating plasma neurofilament light chain values into multiple system atrophy clinical trials in comparison to clinical measures alone. In conclusion, neurofilament light chain correlates with clinical disease severity, progression and prognosis in multiple system atrophy. Combined with clinical and imaging analysis, neurofilament light chain can inform patient stratification and serve as a reliable biomarker of treatment response in future multiple system atrophy trials of putative disease-modifying agents.
    MeSH term(s) Humans ; Cohort Studies ; Multiple System Atrophy ; Cross-Sectional Studies ; Intermediate Filaments ; Neurofilament Proteins ; Biomarkers ; Disease Progression
    Chemical Substances Neurofilament Proteins ; Biomarkers
    Language English
    Publishing date 2022-07-25
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awac253
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  9. Article ; Online: The heritability of the ring-like distribution of macular pigment assessed in a twin study.

    Tariq, Ambreen / Mahroo, Omar A / Williams, Katie M / Liew, S H Melissa / Beatty, Stephen / Gilbert, Clare E / Van Kuijk, Frederik J / Hammond, Christopher J

    Investigative ophthalmology & visual science

    2014  Volume 55, Issue 4, Page(s) 2214–2219

    Abstract: Purpose: It has been suggested that ring-like patterns of macular pigment, as measured with dual wavelength autofluorescence, are observed less frequently in subjects with age-related maculopathy. We explored relative contributions of genetic and ... ...

    Abstract Purpose: It has been suggested that ring-like patterns of macular pigment, as measured with dual wavelength autofluorescence, are observed less frequently in subjects with age-related maculopathy. We explored relative contributions of genetic and environmental factors in macular pigment optical density (MPOD) distributions using a classic twin study.
    Methods: As part of a previous nutritional study, 322 healthy Caucasian female twins, aged 16 to 50 (mean 40) years, underwent measurement of MPOD optical density by two-wavelength fundus autofluorescence. In the present study, the right eye MPOD profile was assessed for the presence of a ring-like pattern by two graders independently, using common criteria, with a third grader arbitrating in cases of disagreement. Concordance was calculated as 2C/(2C + D), where C is the number of twin pairs concordant, and D the number discordant, for the ring-like pattern. Also, heritability was calculated using maximum-likelihood structural equation modeling.
    Results: Images and zygosity data were available for 314 twins (88 monozygotic [MZ] and 69 dizygotic [DZ] pairs). The overall prevalence of the ring pattern was 25.8%. Respective concordances for MZ and DZ twins were 0.75 and 0.22. Additive genetic factors were estimated to contribute to 84.0% of the total variance (95% confidence intervals, 63.7%-94.6%).
    Conclusions: Concordance for MZ twins was over three times that for DZ twins, with heritability estimated at 84%, indicating that genetic factors contribute to the development of the ring structure. Studies have suggested that ring-like patterns of macular pigment can affect risk for age-related maculopathy. In a classic twin study, we found that the presence of such a pattern was highly heritable.
    MeSH term(s) Adolescent ; Adult ; Cell Count ; Diseases in Twins/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Macula Lutea/pathology ; Macular Degeneration/genetics ; Macular Degeneration/pathology ; Ophthalmoscopy ; Reference Values ; Retinal Pigment Epithelium/pathology ; Young Adult
    Language English
    Publishing date 2014-04-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Twin Study
    ZDB-ID 391794-0
    ISSN 1552-5783 ; 0146-0404
    ISSN (online) 1552-5783
    ISSN 0146-0404
    DOI 10.1167/iovs.13-13829
    Database MEDical Literature Analysis and Retrieval System OnLINE

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