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The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked(More)
UNLABELLED Older people are majority users of health and social care services in the UK and internationally. Many older people who access these services have frailty, which is a state of vulnerability to adverse outcomes. The existing health care response to frailty is mainly secondary care-based and reactive to the acute health crises of falls, delirium(More)
BACKGROUND defining contracts for the care of elderly people on the basis of the number of episodes is inappropriate as it fails to take account of the wide variation in their physical disability and rehabilitation needs. Resource use on a day-to-day basis can be estimated for patients using the Resource Utilization Groups version III (RUG-III) casemix(More)
Hyponatremia developing some days after transsphenoidal pituitary adenectomy is a treacherous complication of uncertain cause. Of 19 patients monitored in a pilot study at the Wessex Neurological Centre, plasma sodium fell below 125 mmol/liter in three patients at times ranging from 6 to 9 days postoperatively. One patient had evidence of inappropriate(More)
Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants.(More)
Current methods of contracting for patient treatment in the health service are not suitable for elderly patients with multiple pathology and functional impairment. This study examines Resource Utilization Groups (RUGs) for use in geriatric medicine in England and Wales, based on 1675 patients from 26 hospitals in eight health districts in England and Wales.(More)
OBJECTIVE to determine the resources required to carry out the single assessment process in primary care. DESIGN prospective descriptive study. SETTING one urban primary care practice, Southampton. PARTICIPANTS nine hundred and forty-four people aged 70+ years, registered with the practice, not living in a residential/nursing home, or terminally ill.(More)
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