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  1. Article ; Online: Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.

    Gilhooley, Michael James / Raoof, Naz / Yu-Wai-Man, Patrick / Moosajee, Mariya

    Genes

    2024  Volume 15, Issue 2

    Abstract: Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging ... ...

    Abstract Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of early and expedient molecular diagnoses, particularly in the paediatric population. Here, we report our real-world clinical experience of such a population, exploring which children presented with the condition, how they were investigated and the time taken for a molecular diagnosis to be reached. A retrospective case-note review of paediatric inherited optic neuropathy patients (0-16 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 ± 4.6 (mean ± SD) years at presentation; 68% were male, and 32% were female; and 26% had comorbidities, with diversity of ethnicity. Most patients had undergone genetic testing (95% (
    MeSH term(s) Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Optic Atrophy, Hereditary, Leber/genetics ; Optic Atrophy, Autosomal Dominant/genetics ; Retrospective Studies ; Ophthalmology ; Optic Nerve Diseases/diagnosis ; Optic Nerve Diseases/genetics ; Optic Nerve Diseases/therapy
    Language English
    Publishing date 2024-01-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15020188
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: From Transcriptomics to Treatment in Inherited Optic Neuropathies

    Gilhooley, Michael James / Owen, Nicholas / Moosajee, Mariya / Yu Wai Man, Patrick

    Genes. 2021 Jan. 22, v. 12, no. 2

    2021  

    Abstract: Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ... ...

    Abstract Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process—implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.
    Keywords Parkinson disease ; animals ; atrophy ; central nervous system ; death ; ganglia ; mitochondria ; peripheral nervous system diseases ; sequence analysis ; therapeutics ; transcriptome ; transcriptomics ; vision
    Language English
    Dates of publication 2021-0122
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    Note NAL-AP-2-clean
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12020147
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures.

    Dagens, Andrew / Gilhooley, Michael James

    BMJ case reports

    2016  Volume 2016

    Abstract: Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric ... ...

    Abstract Acute intermittent porphyria (AIP) is an inherited deficiency in the haem biosynthesis pathway. AIP is rare, affecting around 1 in 75 000 people. Acute attacks are characterised by abdominal pain associated with autonomic, neurological and psychiatric symptoms. AIP is rarely associated with posterior reversible encephalopathy syndrome (PRES). PRES is a clinicoradiological condition caused by the failure of the posterior circulation to autoregulate, resulting in cerebral oedema, headaches, nausea and seizures. This association is important because drugs used in the management of seizures may worsen an attack of AIP. This article describes a case of AIP and PRES in a young woman.
    MeSH term(s) Abdominal Pain/etiology ; Adult ; Female ; Humans ; Magnetic Resonance Imaging ; Porphyria, Acute Intermittent/complications ; Porphyria, Acute Intermittent/diagnosis ; Porphyrins/urine ; Posterior Leukoencephalopathy Syndrome/diagnosis ; Posterior Leukoencephalopathy Syndrome/diagnostic imaging ; Seizures/etiology
    Chemical Substances Porphyrins
    Language English
    Publishing date 2016-06-08
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2016-215350
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: From Transcriptomics to Treatment in Inherited Optic Neuropathies.

    Gilhooley, Michael James / Owen, Nicholas / Moosajee, Mariya / Yu Wai Man, Patrick

    Genes

    2021  Volume 12, Issue 2

    Abstract: Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ... ...

    Abstract Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process-implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.
    MeSH term(s) Alleles ; Animals ; Disease Management ; Gene Expression Profiling/methods ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Therapy ; Genotype ; Humans ; Mutation ; Optic Atrophies, Hereditary/diagnosis ; Optic Atrophies, Hereditary/genetics ; Optic Atrophies, Hereditary/therapy ; Phenotype ; Transcriptome
    Language English
    Publishing date 2021-01-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes12020147
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Adult neurogenesis and depression: an introduction.

    Gilhooley, Michael James

    Psychiatria Danubina

    2010  Volume 22 Suppl 1, Page(s) S85–7

    Abstract: The following essay provides a summary of a seminar given on the sixth of November, 2010 at the combined annual congress, held at Brussels of the Centro Studi Psichatrici Vrije Universiteit Brussel, Université Catholique de Louvain & the Bedfordshire ... ...

    Abstract The following essay provides a summary of a seminar given on the sixth of November, 2010 at the combined annual congress, held at Brussels of the Centro Studi Psichatrici Vrije Universiteit Brussel, Université Catholique de Louvain & the Bedfordshire Centre for Mental Health Research. The talk aimed to present a brief taster, assuming no prior knowledge, of adult neurogenesis, the formation of new nerve cells, in relation to the aetiology and treatment of depression. The talk begins with an introduction to the principles of adult neurogenesis: from initial investigations by Ramon y Cajal in the 19th century, resulting in a "static brain hypothesis", to their subsequent challenge almost one hundred years later. The potential functional implications emerging, especially in relation to depression, are explored. The fascinating effects of corticosteroids and antidepressants are used as examples to explore the possible roles of neurogenesis that have led some to propose a neurogenic theory of depression. Arguments against this theory are then presented. Finally, a consideration of future opinion: could neurogenesis be less important in the aetiology of depression, but involved in its treatment - a property of antidepressant action rather than a central final aetiological pathway. In this young branch of neuroscience controversy abounds: our understanding of the process itself, its relations and most importantly its implications are all in their infancy. This has allowed for some of the most interesting debate of recent years as to the neurological basis and treatment of affective disorders.
    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Adult ; Animals ; Antidepressive Agents/therapeutic use ; Brain/physiopathology ; Depressive Disorder/drug therapy ; Depressive Disorder/physiopathology ; Disease Models, Animal ; Humans ; Mice ; Neurogenesis/drug effects ; Neurogenesis/physiology ; Norepinephrine/metabolism ; Serotonin/metabolism
    Chemical Substances Adrenal Cortex Hormones ; Antidepressive Agents ; Serotonin (333DO1RDJY) ; Norepinephrine (X4W3ENH1CV)
    Language English
    Publishing date 2010-11
    Publishing country Croatia
    Document type Journal Article
    ZDB-ID 1067580-2
    ISSN 0353-5053
    ISSN 0353-5053
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  6. Article ; Online: Recurrent presumed herpes simplex keratitis and episcleritis in keratosis follicularis (Darier's disease).

    Radia, Meera / Gilhooley, Michael James / Panos, Chris / Claoué, Charles

    BMJ case reports

    2015  Volume 2015

    Abstract: Keratosis follicularis (Darier's disease) is an autosomal dominant dermatological disorder characterised by abnormal epidermal differentiation and loss of normal cell-to-cell adhesion. Cardinal features include diffuse hyperkeratotic warty papules with ... ...

    Abstract Keratosis follicularis (Darier's disease) is an autosomal dominant dermatological disorder characterised by abnormal epidermal differentiation and loss of normal cell-to-cell adhesion. Cardinal features include diffuse hyperkeratotic warty papules with scaly plaques in seborrhoeic regions with associated mucous membrane changes. Darier's disease is rare (prevalence 2.7 in 100,000), with few ocular sequelae reported: commonly dry eye with or without Sjögren's syndrome. This is the first report, to the best of our knowledge, to describe a case of recurrent herpes simplex virus (HSV) keratitis and episcleritis in a 47-year-old man suffering from Darier's disease. The patient's condition predisposed him towards developing ocular complications due to several factors: impaired desmosome function leading to poor cell-to-cell adhesion in the corneal epithelium, dry eye and HSV invasion of inflamed periocular skin presumably combining to allow viral colonisation of a poorly protected cornea.
    MeSH term(s) Chronic Disease ; Cornea/pathology ; Cornea/virology ; Darier Disease/complications ; Darier Disease/pathology ; Dry Eye Syndromes/etiology ; Humans ; Keratitis, Herpetic/etiology ; Keratitis, Herpetic/virology ; Male ; Middle Aged ; Scleritis/etiology ; Simplexvirus ; Skin/pathology ; Skin/virology
    Language English
    Publishing date 2015-07-16
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2015-210772
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Retinal ganglion cell repopulation for vision restoration in optic neuropathy: a roadmap from the RReSTORe Consortium.

    Soucy, Jonathan R / Aguzzi, Erika A / Cho, Julie / Gilhooley, Michael James / Keuthan, Casey / Luo, Ziming / Monavarfeshani, Aboozar / Saleem, Meher A / Wang, Xue-Wei / Wohlschlegel, Juilette / Baranov, Petr / Di Polo, Adriana / Fortune, Brad / Gokoffski, Kimberly K / Goldberg, Jeffrey L / Guido, William / Kolodkin, Alex L / Mason, Carol A / Ou, Yvonne /
    Reh, Thomas A / Ross, Ahmara G / Samuels, Brian C / Welsbie, Derek / Zack, Donald J / Johnson, Thomas V

    Molecular neurodegeneration

    2023  Volume 18, Issue 1, Page(s) 64

    Abstract: Retinal ganglion cell (RGC) death in glaucoma and other optic neuropathies results in irreversible vision loss due to the mammalian central nervous system's limited regenerative capacity. RGC repopulation is a promising therapeutic approach to reverse ... ...

    Abstract Retinal ganglion cell (RGC) death in glaucoma and other optic neuropathies results in irreversible vision loss due to the mammalian central nervous system's limited regenerative capacity. RGC repopulation is a promising therapeutic approach to reverse vision loss from optic neuropathies if the newly introduced neurons can reestablish functional retinal and thalamic circuits. In theory, RGCs might be repopulated through the transplantation of stem cell-derived neurons or via the induction of endogenous transdifferentiation. The RGC Repopulation, Stem Cell Transplantation, and Optic Nerve Regeneration (RReSTORe) Consortium was established to address the challenges associated with the therapeutic repair of the visual pathway in optic neuropathy. In 2022, the RReSTORe Consortium initiated ongoing international collaborative discussions to advance the RGC repopulation field and has identified five critical areas of focus: (1) RGC development and differentiation, (2) Transplantation methods and models, (3) RGC survival, maturation, and host interactions, (4) Inner retinal wiring, and (5) Eye-to-brain connectivity. Here, we discuss the most pertinent questions and challenges that exist on the path to clinical translation and suggest experimental directions to propel this work going forward. Using these five subtopic discussion groups (SDGs) as a framework, we suggest multidisciplinary approaches to restore the diseased visual pathway by leveraging groundbreaking insights from developmental neuroscience, stem cell biology, molecular biology, optical imaging, animal models of optic neuropathy, immunology & immunotolerance, neuropathology & neuroprotection, materials science & biomedical engineering, and regenerative neuroscience. While significant hurdles remain, the RReSTORe Consortium's efforts provide a comprehensive roadmap for advancing the RGC repopulation field and hold potential for transformative progress in restoring vision in patients suffering from optic neuropathies.
    MeSH term(s) Animals ; Humans ; Retinal Ganglion Cells ; Optic Nerve Diseases ; Retina ; Brain ; Cell Differentiation ; Mammals
    Language English
    Publishing date 2023-09-21
    Publishing country England
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2244557-2
    ISSN 1750-1326 ; 1750-1326
    ISSN (online) 1750-1326
    ISSN 1750-1326
    DOI 10.1186/s13024-023-00655-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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