Browse Items (186 total)

Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a…

As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS…

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation…

Rett syndrome arises from a mutation on the X chromosome and occurs with prevalence in the general population in 1:10,000 women. Its major nutritional consequences require that health providers recognize early signs of eating difficulties and slowing…

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills,…

BACKGROUND: Sucrose is an effective analgesic for procedural pain in preterm infants. It has been hypothesized that its analgesic effects are mediated by the release of endogenous opioid neurotransmitters such as beta-endorphin. OBJECTIVE: To…

OBJECTIVES: To assess the clinical and biochemical safety profile of long-term polyethylene glycol 3350 (PEG) therapy in children with chronic constipation and to assess pediatric patient acceptance of PEG therapy. DESIGN: Prospective observational…

BACKGROUND: Although some studies suggest that parenthood is associated with a reduced suicide risk, the impact of children on parental suicide has rarely been documented. METHODS: This study investigates the impact of parental status on the risk of…

CONTEXT: Clinicians have observed various patterns of functional decline at the end of life, but few empirical data have tested these patterns in large populations. OBJECTIVE: To determine if functional decline differs among 4 types of illness…

CONTEXT: 1',1'dimethylheptyl-Delta8-tetrahydrocannabinol-11-oic acid (CT-3), a potent analog of THC-11-oic acid, produces marked antiallodynic and analgesic effects in animals without evoking the typical effects described in models of cannabinoids.…

CONTEXT: Sequencing of the human genome provides an immense resource for studies correlating DNA variation and epidemiology. However, appropriately powered genetic epidemiology studies often require recruitment from multiple sites. OBJECTIVES: To…

The goals of this study were to estimate the lifetime prevalence of traumatic events, the current prevalence of Posttraumatic Stress Disorder (PTSD), and the connection between the kinds of traumatic events experienced and the probability of…

The objective was to evaluate the prevalence of chronic conditions (CC) in adolescents in Switzerland; to describe their behaviour (leisure, sexuality, risk taking behaviour) and to compare them to those in adolescents who do not have CC in order to…

The nitrogen-containing bisphosphonates (N-BPs), alendronate and risedronate, are the only pharmacologic agents shown to prevent spine and nonvertebral fractures associated with postmenopausal and glucocorticoid-induced osteoporosis. At the tissue…

Stress is known to either up or down regulate immunity. In this study, mice were subjected to handling combined with rectal temperature measurement (RTM) stress or handling only stress. We investigated whether there were any significant differences…

Despite the detail that is provided on the potential negative outcomes of children and families who have chronic illnesses, most of these families show admirable resilience. Most children adjust to their illnesses within 1 year and most families…

BACKGROUND: Little is known about the effect of parental bereavement on physical health. We investigated whether the death of a child increased mortality in parents. METHODS: We undertook a follow-up study based on national registers. From 1980 to…

Pain assessment is a difficult task for parents at home following children's surgery. The purpose of the present study was to confirm the psychometric properties of a behavioural measure of postoperative pain developed to assist parents with pain…

Children's Hospital Boston began a major pain assessment and management initiative 3 years ago: Pain assessment and management are considered one of the institution's primary standards of care. The initiative included State of the Science meetings…

Research in end-of-life care is constrained more by pragmatic, social, cultural, and financial constraints than ethical issues that preclude the application of typical research methodologies. When normally accepted and ethically sound protections for…

Voluntariness is a requirement that is frequently voiced in research ethics but is poorly understood. This article seeks to clarify voluntariness and assess its significance in clinical research at the end of life. First, what voluntariness is and…

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