Browse Items (400 total)

Little emphasis has been accorded to peripheral skin temperature impairments in children with neurological disorders but attention has been paid to the significance of cold extremities (autonomic failure) for well-being and quality of life in adults…

Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at onset and the variety of neural systems that may be…

Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine…

BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across…

We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex. Eight outpatients with tuberous…

AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the…

Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. We performed bilateral internal globus pallidus stimulation in six patients with genetically confirmed PKAN…

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties…

CONTEXT: Legislation has been proposed that would mandate parental notification for adolescents younger than 18 years (minors) obtaining prescription contraception from federally funded family planning clinics. OBJECTIVE: To determine the extent to…

CONTEXT: The coordinating function of primary care is information-intensive and may be impeded by missing clinical information. However, missing clinical information has not been explicitly investigated in the primary care setting. OBJECTIVE: To…

2005

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Patients and their families struggle with myriad choices concerning medical treatments that frequently precede death. Advance directives have been proposed as a tool to facilitate end-of-life decision making, yet frequently fail to achieve this goal.…

BACKGROUND: The current study was conducted to assess the safety and tolerability of a transdermal fentanyl delivery system for the relief of chronic pain in a pediatric population, and also to validate titration recommendations and conversion to…

We report on an 8 years and 3 months old boy with severe idiopathic juvenile osteoporosis (IJO). Clinical features included multiple fractures, especially of the vertebrae, and neurological symptoms. Biological studies showed non-parathyroid…

The aim was to compare results of studies performed in different settings worldwide and identify common therapeutic areas to allow for focused interventions, because off-label drug use can be a measure of the lack of knowledge concerning paediatric…

Transition is a generic issue for subspecialties dealing with chronic illness and has received little attention to date. Transfer to adult care occurs at the end of a transition process that must be individualised for each patient and takes into…

GOALS OF WORK: The objective of the study is to assess the Palliative Care Outcome Scale (POS) as a potential audit tool within a specialist cancer centre. It also aims to answer the following questions: does the tool identify problem areas and…

The aim of this study was to assess prospectively changes in the health-related quality of life (HRQL) of children and adolescents with diabetes, asthma or cystic fibrosis (CF). One hundred and twenty-two parents of children aged 10-16 years with…
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