Publications by authors named "S M Hickey"

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

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Article Synopsis
  • The audit aimed to assess and improve the completeness and accuracy of the National Joint Registry (NJR) dataset specifically for elbow arthroplasty surgeries.
  • In a two-phase approach, Phase 1 compared NJR data with NHS England Hospital Episode Statistics (HES), identifying thousands of unmatched and inaccurate records, particularly for radial head arthroplasties (RHAs).
  • Phase 2 involved collaboration among 142 NHS hospitals to correct and update records, resulting in an improved completeness of the NJR dataset from 63% to 93% and accuracy from 94% to 98%.
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Outside the United States, bromelain-based enzymatic debridement (BBED) has become an effective tool for the removal of burn eschar. A primary concern with BBED is that it is a painful procedure requiring appropriate analgesia. The purpose of this study was to describe our experience using NexoBrid (NXB), with a particular focus on pain management.

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Enhanced Maternity Care (EMC) is a new standard of care for women who become unwell during or shortly after pregnancy. Yorkshire and the Humber Maternity Clinical Network established the Maternal Enhanced and Critical Care Group (MEaCC) to create regional guidance with a focus on maternity staff training, development of the MEaCC database and data collection. This article describes the introduction of the MEaCC and regional data collection.

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