The medical practitioner in the community is in a unique position to assist children and their families from the time of diagnosis with a life-threatening condition through to the end of life. The purpose of this article is to inform medical…
There are many challenges in coping with and adapting to life with a chronic disease, and increased survival cannot be assumed to be associated with increased quality of life. A recent systematic review shows there is wide variation in outcomes…
To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during…
OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73…
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different…
BACKGROUND: Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE: To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. DESIGN:…
Proopiomelanocortin (POMC)-derived beta-endorphin1-31 (END) released from immune cells inhibits inflammatory pain. We examined the expression of END and POMC mRNA encoding the signal sequence required for entry of the nascent polypeptide into the…
Palliative care for children is complex and focuses on patients' comfort. Some of the most troublesome symptoms as patients approach the end of life are seizures, agitation, and spasticity. Many doctors caring for children at the end of life are…
The study of pharmacologically active peptides is central to the understanding of disease and development of novel therapies. It would be advantageous to monitor the fate of bioactive peptides in biological fluids and tissues following their in vivo…
BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits…
AIM: To enhance our knowledge on why adolescents with a chronic condition (insulin-dependent diabetes mellitus, IDDM) choose to smoke despite possible awareness of health risks. METHODS: Twelve patients aged 15-20 with IDDM who smoked cigarettes…
OBJECTIVE: Firstly, this paper aims to systematically review the mitochondrial disease literature to identify studies assessing the needs and problems in the daily life of children with a mitochondrial disease and of their parents and family. The…
BACKGROUND AND OBJECTIVE: Although there are general guidelines for adolescents with chronic illnesses making the transition from paediatric to adult health care, there are few studies which evaluate transition programs. This cross-sectional study…
STUDY OBJECTIVE: To investigate the effect of sevoflurane as single anesthetic on melatonin and beta-endorphin plasma levels during the first 24 hours postoperatively. DESIGN: Prospective, open-cohort study. SETTING: University hospital. PATIENTS: 13…
The underlying mechanisms of antipsychotic (AP)-induced weight gain are unknown, but both central and peripheral AP target receptors could potentially be involved. This study used radioligand binding assays to compare the binding affinities of…
PURPOSE: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. METHODS: Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The…
Throughout the long history of opioid drug use by humans, it has been known that opioids are powerful analgesics, but they can cause addiction. It has also been observed, and is now substantiated by multiple reports and studies, that during opioid…
Opioids are the most effective and widely used drugs in the treatment of severe pain. They act through G protein-coupled receptors. Four families of endogenous ligands (opioid peptides) are known. The standard exogenous opioid analgesic is morphine.…
Purpose Engagement in advance care planning (ACP) is viewed as a way to prepare for possible death. In patients undergoing hematopoietic stem-cell transplantation (HSCT), an aggressive but possibly curative procedure for cancer, encouraging…
Adrenoleukodystrophy (ALD) is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. The disease typically presents in young boys and adolescent boys. Allogeneic…
Paediatric palliative care is an emerging subspecialty that focuses on achieving the best possible quality of life for children with life-threatening conditions and their families. To achieve this goal, the individuals working in this field need to:…
This article surveys worldwide medical, ethical, and legal trends and initiatives related to the concept of pain management as a human right. This concept recently gained momentum with the 2004 European Federation of International Association for the…
Prenatal diagnosis of a lethal anomaly is a monumental moment in a family's life. It requires extensive team counseling and planning about complex neonatal and obstetric medical management. The construct of palliative care with its focus on…
The cure rate of cancer in adolescents is high but between 10% and 40% of them will develop incurable disease depending on tumor type and prognostic factors. These patients will need palliative care defined as supportive care to optimize comfort,…
PURPOSE: Palliative sedation therapy (PST) is a controversial issue. There is a need for internationally accepted definitions and standards. METHODS: A systematic review of the literature was performed by an international panel of 29 palliative care…
OBJECTIVE: To examine whether physicians or parents assume responsibility for treatment decisions for critically ill children and how this relates to subsequent parental experience. A significant controversy has emerged regarding the role of parents,…
OBJECTIVE: To characterize parental perception of clinical research, particularly in emergency settings. To identify specific aspects of clinical research that concern parents and to discuss how these concerns can be addressed. STUDY DESIGN:…
OBJECTIVE: To investigate parents' perspectives on the desirability, content, and conditions of a physician-parent conference after their child's death in the pediatric intensive care unit (PICU). STUDY DESIGN: Audio-recorded telephone interviews…
OBJECTIVE: The purpose of this review of published literature was to identify the number and focus of empirically based papers that included research methods used to directly solicit patient-reported outcomes (PRO) from pediatric oncology patients at…
