Mary Gainsborough

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model

Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu et autres

Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic-ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding γ-adducin) gene have been described in a monogenic form …

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Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, Joe Abbott et autres

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Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Pedro Marques, Francisca Caimari, Laura C. Hernández‐Ramírez, David Collier et autres

CONTEXT: Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). OBJECTIVE: To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting …

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How to help children with neurodevelopmental and visual problems: a scoping review

Cathy Williams, Kate Northstone, Catherine Borwick, Mary Gainsborough et autres

Children with visual impairment and a condition affecting their neurodevelopment (children with VND) may require extensive and specialised help but evidence on the most effective strategies for visual improvement is lacking. We defined a PICO format (Population, Intervention, Comparator, Outcome) for a …

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Validity and reliability of the guidelines of the Surveillance of Cerebral Palsy in Europe for the classification of cerebral palsy

Mary Gainsborough, Geraldine Surman, Giovanna Maestri, Allan Colver et autres

The validity and reliability of the guidelines of the Surveillance of Cerebral Palsy in Europe (SCPE) for the classification of cerebral palsy (CP) were tested by administering 10 written case vignettes via an interactive web-based link to 30 SCPE partners. There was …

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Neurological status of low-risk Vietnamese newborns: a comparison with a British newborn cohort.

Nguyen Trong Hieu, Mary Gainsborough, J. A. Simpson, Nguyễn Thị Thủy et autres

A shortened version of the Dubowitz newborn neurological examination, recently reassessed in rural Thailand, was applied to a group of 58 Vietnamese newborns. The aim was to establish the neurological status of newborns in this population for use in further studies and …

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Interferon alfa-2a in Japanese encephalitis: a randomised double-blind placebo-controlled trial

Tom Solomon, Nguyen Minh Dung, Bridget Wills, Rachel Kneen et autres

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Seizures and raised intracranial pressure in Vietnamese patients with Japanese encephalitis

Tom Solomon, Nguyen Minh Dung, Rachel Kneen, Le Thi Thu Thao et autres

Japanese encephalitis (JE) causes at least 10 000 deaths each year. Death is presumed to result from infection, dysfunction and destruction of neurons. There is no antiviral treatment. Seizures and raised intracranial pressure (ICP) are potentially treatable complications, but their importance in …

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Nasal Carriage in Vietnamese Children of Streptococcus pneumoniae Resistant to Multiple Antimicrobial Agents

Christopher M. Parry, To Song Diep, John Wain, Nguyen Thi Tuyet Hoa et autres

Resistance to antimicrobial agents in Streptococcus pneumoniae is increasing rapidly in many Asian countries. There is little recent information concerning resistance levels in Vietnam. A prospective study of pneumococcal carriage in 911 urban and rural Vietnamese children, of whom 44% were nasal …

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