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Article ; Online: Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.

Murad, Aizuri / Bergfeld, Wilma

2022 Volume 47, Issue 10, Page(s) 1858–1860

Abstract: We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome. ...

Abstract	We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome.
MeSH term(s)	Abnormalities, Multiple ; Alopecia/complications ; Darier Disease/complications ; Ectodermal Dysplasia ; Eyebrows/abnormalities ; Facies ; Failure to Thrive ; Genetic Diseases, X-Linked ; Heart Defects, Congenital ; Humans ; Ichthyosis ; Skin Diseases, Genetic
Language	English
Publishing date	2022-06-01
Publishing country	England
Document type	Case Reports ; Letter
ZDB-ID	195504-4
ISSN	1365-2230 ; 0307-6938
ISSN (online)	1365-2230
ISSN	0307-6938
DOI	10.1111/ced.15243
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Article ; Online: Reply to Effectiveness of dutasteride in a large series of patients with frontal fibrosing alopecia in real clinical practice.

Murad, Aizuri / Bergfeld, Wilma F

Journal of the American Academy of Dermatology

2021 Volume 85, Issue 2, Page(s) e93

MeSH term(s)	Alopecia/drug therapy ; Dutasteride/therapeutic use ; Finasteride ; Humans ; Lichen Planus
Chemical Substances	Finasteride (57GNO57U7G) ; Dutasteride (O0J6XJN02I)
Language	English
Publishing date	2021-04-02
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	603641-7
ISSN	1097-6787 ; 0190-9622
ISSN (online)	1097-6787
ISSN	0190-9622
DOI	10.1016/j.jaad.2021.02.089
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Article ; Online: Review and comparison of body sites among patients with cutaneous malignant melanoma: an observational study.

Wolinska, Anna / Bowe, Stephanie / Murray, Gregg / Collins, Sinead / Feighery, Cliona / Roche, Muireann / Murad, Aizuri

Irish journal of medical science

2023 Volume 192, Issue 4, Page(s) 1629–1630

MeSH term(s)	Humans ; Skin Neoplasms/pathology ; Melanoma/pathology ; Melanoma, Cutaneous Malignant
Language	English
Publishing date	2023-02-02
Publishing country	Ireland
Document type	Observational Study ; Letter
ZDB-ID	390895-1
ISSN	1863-4362 ; 0021-1265
ISSN (online)	1863-4362
ISSN	0021-1265
DOI	10.1007/s11845-023-03291-z
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Article ; Online: Wood's light examination for assessment in frontal fibrosing alopecia: A maneuver to enhance the hairline.

Murad, Aizuri / Bergfeld, Wilma

Journal of the American Academy of Dermatology

2019 Volume 89, Issue 2, Page(s) e75–e76

MeSH term(s)	Humans ; Alopecia/diagnosis ; Lichen Planus
Language	English
Publishing date	2019-12-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	603641-7
ISSN	1097-6787 ; 0190-9622
ISSN (online)	1097-6787
ISSN	0190-9622
DOI	10.1016/j.jaad.2019.11.065
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Article ; Online: Pathological neural networks and artificial neural networks in ALS: diagnostic classification based on pathognomonic neuroimaging features.

Bede, Peter / Murad, Aizuri / Hardiman, Orla

Journal of neurology

2021 Volume 269, Issue 5, Page(s) 2440–2452

Abstract: The description of group-level, genotype- and phenotype-associated imaging traits is academically important, but the practical demands of clinical neurology centre on the accurate classification of individual patients into clinically relevant diagnostic, ...

Abstract	The description of group-level, genotype- and phenotype-associated imaging traits is academically important, but the practical demands of clinical neurology centre on the accurate classification of individual patients into clinically relevant diagnostic, prognostic and phenotypic categories. Similarly, pharmaceutical trials require the precision stratification of participants based on quantitative measures. A single-centre study was conducted with a uniform imaging protocol to test the accuracy of an artificial neural network classification scheme on a cohort of 378 participants composed of patients with ALS, healthy subjects and disease controls. A comprehensive panel of cerebral volumetric measures, cortical indices and white matter integrity values were systematically retrieved from each participant and fed into a multilayer perceptron model. Data were partitioned into training and testing and receiver-operating characteristic curves were generated for the three study-groups. Area under the curve values were 0.930 for patients with ALS, 0.958 for disease controls, and 0.931 for healthy controls relying on all input imaging variables. The ranking of variables by classification importance revealed that white matter metrics were far more relevant than grey matter indices to classify single subjects. The model was further tested in a subset of patients scanned within 6 weeks of their diagnosis and an AUC of 0.915 was achieved. Our study indicates that individual subjects may be accurately categorised into diagnostic groups in an observer-independent classification framework based on multiparametric, spatially registered radiology data. The development and validation of viable computational models to interpret single imaging datasets are urgently required for a variety of clinical and clinical trial applications.
MeSH term(s)	Amyotrophic Lateral Sclerosis/diagnostic imaging ; Amyotrophic Lateral Sclerosis/pathology ; Humans ; Magnetic Resonance Imaging/methods ; Neural Networks, Computer ; Neuroimaging/methods ; White Matter/diagnostic imaging ; White Matter/pathology
Language	English
Publishing date	2021-09-28
Publishing country	Germany
Document type	Journal Article
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-021-10801-5
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Article ; Online: The impact of COVID-19 on nonmelanoma skin cancer: the experience of an Irish dermatology department. Comment on: 'Influence of Covid-19 confinement on the size of malignant skin tumours surgically removed at a Spanish hospital'.

Wolinska, Anna / Murray, Gregg / Bowe, Stephanie / Collins, Sinead / Feighery, Clióna / Murad, Aizuri

Clinical and experimental dermatology

2022 Volume 47, Issue 8, Page(s) 1582–1583

MeSH term(s)	COVID-19 ; Carcinoma, Basal Cell ; Dermatology ; Hospitals ; Humans ; Skin Neoplasms/surgery
Language	English
Publishing date	2022-05-22
Publishing country	England
Document type	Letter
ZDB-ID	195504-4
ISSN	1365-2230 ; 0307-6938
ISSN (online)	1365-2230
ISSN	0307-6938
DOI	10.1111/ced.15225
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Article ; Online: Evaluation and categorisation of individual patients based on white matter profiles: Single-patient diffusion data interpretation in neurodegeneration.

Tahedl, Marlene / Murad, Aizuri / Lope, Jasmin / Hardiman, Orla / Bede, Peter

Journal of the neurological sciences

2021 Volume 428, Page(s) 117584

Abstract: The majority of radiology studies in neurodegenerative conditions infer group-level imaging traits from group comparisons. While this strategy is helpful to define phenotype-specific imaging signatures for academic use, the meaningful interpretation of ... ...

Abstract	The majority of radiology studies in neurodegenerative conditions infer group-level imaging traits from group comparisons. While this strategy is helpful to define phenotype-specific imaging signatures for academic use, the meaningful interpretation of single scans of individual subjects is more important in everyday clinical practice. Accordingly, we present a computational method to evaluate individual subject diffusion tensor data to highlight white matter integrity alterations. Fifty white matter tracts were quantitatively evaluated in 132 patients with amyotrophic lateral sclerosis (ALS) with respect to normative values from 100 healthy subjects. Fractional anisotropy and radial diffusivity alterations were assessed individually in each patient. The approach was validated against standard tract-based spatial statistics and further scrutinised by the assessment of 78 additional data sets with a blinded diagnosis. Our z-score-based approach readily detected white matter degeneration in individual ALS patients and helped to categorise single subjects with a 'blinded diagnosis' as likely 'ALS' or 'control'. The group-level inferences from the z-score-based approach were analogous to the standard TBSS output maps. The benefit of the z-score-based strategy is that it enables the interpretation of single DTI datasets as well as the comparison of study groups. Outputs can be summarised either visually by highlighting the affected tracts, or, listing the affected tracts in a text file with reference to normative data, making it particularly useful for clinical applications. While individual diffusion data cannot be visually appraised, our approach provides a viable framework for single-subject imaging data interpretation.
MeSH term(s)	Amyotrophic Lateral Sclerosis/diagnostic imaging ; Anisotropy ; Diffusion Magnetic Resonance Imaging ; Diffusion Tensor Imaging ; Humans ; White Matter/diagnostic imaging
Language	English
Publishing date	2021-07-21
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
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.2021.117584
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Article ; Online: The changing landscape of neuroimaging in frontotemporal lobar degeneration: from group-level observations to single-subject data interpretation.

McKenna, Mary Clare / Murad, Aizuri / Huynh, William / Lope, Jasmin / Bede, Peter

Expert review of neurotherapeutics

2022 Volume 22, Issue 3, Page(s) 179–207

Abstract: Introduction: While the imaging signatures of frontotemporal lobar degeneration (FTLD) phenotypes and genotypes are well-characterized based on group-level descriptive analyses, the meaningful interpretation of single MRI scans remains challenging. ... ...

Abstract	Introduction: While the imaging signatures of frontotemporal lobar degeneration (FTLD) phenotypes and genotypes are well-characterized based on group-level descriptive analyses, the meaningful interpretation of single MRI scans remains challenging. Single-subject MRI classification frameworks rely on complex computational models and large training datasets to categorize individual patients into diagnostic subgroups based on distinguishing imaging features. Reliable individual subject data interpretation is hugely important in the clinical setting to expedite the diagnosis and classify individuals into relevant prognostic categories. Areas covered: This article reviews (1) single-subject MRI classification strategies in symptomatic and pre-symptomatic FTLD, (2) practical clinical implications, and (3) the limitations of current single-subject data interpretation models. Expert opinion: Classification studies in FTLD have demonstrated the feasibility of categorizing individual subjects into diagnostic groups based on multiparametric imaging data. Preliminary data indicate that pre-symptomatic FTLD mutation carriers may also be reliably distinguished from controls. Despite momentous advances in the field, significant further improvements are needed before these models can be developed into viable clinical applications.
MeSH term(s)	Brain/diagnostic imaging ; Frontotemporal Dementia ; Frontotemporal Lobar Degeneration/diagnostic imaging ; Humans ; Magnetic Resonance Imaging/methods ; Neuroimaging
Language	English
Publishing date	2022-03-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2112534-X
ISSN	1744-8360 ; 1473-7175
ISSN (online)	1744-8360
ISSN	1473-7175
DOI	10.1080/14737175.2022.2048648
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Article: Cerebellar remodelling decades after spinal cord insult: neuroplasticity in poliomyelitis survivors.

Shing, Stacey Li Hi / Murad, Aizuri / Lope, Jasmin / Hardiman, Orla / Bede, Peter

Journal of integrative neuroscience

2022 Volume 21, Issue 2, Page(s) 65

Abstract: Background: The cerebellum integrates a multitude of motor and cognitive processes through ample spinal and supratentorial projections. Despite emerging evidence of adaptive neuroplasticity, cerebellar reorganisation in response to severe spinal insult ... ...

Abstract	Background: The cerebellum integrates a multitude of motor and cognitive processes through ample spinal and supratentorial projections. Despite emerging evidence of adaptive neuroplasticity, cerebellar reorganisation in response to severe spinal insult early in life is poorly characterised. The objective of this study is the systematic characterisation of cerebellar integrity metrics in a cohort of adult poliomyelitis survivors as a template condition for longstanding lower motor neuron injury. Methods: A total of 143 participants, comprising 43 adult poliomyelitis survivors and 100 age- and sex-matched healthy controls were recruited in a prospective, single-centre neuroimaging study with a uniform structural and diffusion imaging protocol. First, standard voxelwise grey and white matter analyses were performed. Then, the cerebellum was anatomically segmented into lobules, and cortical thickness and grey matter volumes were evaluated in each lobule. The integrity of cerebellar peduncles was also assessed based on their diffusivity profiles. Results: Compared to healthy controls, poliomyelitis survivors exhibited greater cortical thickness in lobules I, II, and III in the right hemisphere and in lobules VIIIA and VIIIB bilaterally. A trend of higher cortical thickness was also detected lobules I, II and III in the left hemisphere. Enhanced cerebellar peduncle organisation was detected, particularly within the middle cerebellar peduncles. Conclusions: Increased cerebellar integrity measures in poliomyelitis survivors are primarily identified in lobules associated with sensorimotor functions. The identified pattern of cerebellar reorganisation may represent compensatory changes in response to severe lower motor neuron injury in childhood and ensuing motor disability.
MeSH term(s)	Adult ; Cerebellum/diagnostic imaging ; Disabled Persons ; Humans ; Magnetic Resonance Imaging/methods ; Motor Disorders ; Neuronal Plasticity ; Poliomyelitis ; Prospective Studies ; Survivors
Language	English
Publishing date	2022-03-31
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2136427-8
ISSN	0219-6352
ISSN	0219-6352
DOI	10.31083/j.jin2102065
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Article: Alterations in somatosensory, visual and auditory pathways in amyotrophic lateral sclerosis: an under-recognised facet of ALS.

Chipika, Rangariroyashe H / Mulkerrin, Grainne / Murad, Aizuri / Lope, Jasmin / Hardiman, Orla / Bede, Peter

Journal of integrative neuroscience

2022 Volume 21, Issue 3, Page(s) 88

Abstract: Background: While amyotrophic lateral sclerosis (ALS) is widely recognised as a multi-network disorder with extensive frontotemporal and cerebellar involvement, sensory dysfunction is relatively under evaluated. Subtle sensory deficits have been ... ...

Abstract	Background: While amyotrophic lateral sclerosis (ALS) is widely recognised as a multi-network disorder with extensive frontotemporal and cerebellar involvement, sensory dysfunction is relatively under evaluated. Subtle sensory deficits have been sporadically reported, but there is a prevailing notion that sensory pathways may be relatively spared in ALS. Methods: In a prospective neuroimaging study we have systematically evaluated cerebral grey and white matter structures involved in the processing, relaying and mediation of sensory information. Twenty two Results: Widespread cortical alterations were observed in C9+ ALS including both primary and secondary somatosensory regions. In C9- ALS, cortical thickness reductions were observed in the postcentral gyrus. Thalamic nuclei relaying somatosensory information as well as the medial and lateral geniculate nuclei exhibited volume reductions. Diffusivity indices revealed posterior thalamic radiation pathology and a trend of left medial lemniscus degeneration was also observed in C9- ALS ( Conclusions: In contrast to the overwhelming focus on motor system degeneration and frontotemporal dysfunction in recent research studies, our findings confirm that sensory circuits are also affected in ALS. The involvement of somatosensory, auditory and visual pathways in ALS may have important clinical ramifications which are easily overlooked in the context of unremitting motor decline. Subtle sensory deficits may exacerbate mobility, contribute to fall risk, impair dexterity, and worsen bulbar dysfunction, therefore comprehensive sensory testing should also be performed as part of the clinical assessments in ALS.
MeSH term(s)	Amyotrophic Lateral Sclerosis/diagnostic imaging ; Amyotrophic Lateral Sclerosis/genetics ; Auditory Pathways/pathology ; C9orf72 Protein ; Humans ; Neuroimaging ; Prospective Studies
Chemical Substances	C9orf72 Protein
Language	English
Publishing date	2022-05-28
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2136427-8
ISSN	0219-6352
ISSN	0219-6352
DOI	10.31083/j.jin2103088
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