Browse Items · Pediatric Palliative Care Library

Whispers in the waiting room

Kim, aged 3 years, lies asleep, waiting for a miracle. Outside her room, the nurses on the night shift pad softly through the half-lighted corridors, stopping to count breaths, take pulses, or check the intravenous pumps. In the morning, Kim will…

Role of palliative care in fetal neurological consultations: Guiding through uncertainty and hope

Fetal neurology is a rapidly evolving and expanding field. Discussions about diagnosis, prognosis, treatment options, and goals of care often begin in the antenatal period. However, there are inherent challenges to fetal counseling of neurological…

Pediatric Palliative Care Referral Criteria Following Moderate or Severe Traumatic Brain Injuries

Introduction/Aims: Traumatic brain injuries (TBIs) are one of the leading causes of death and disability in children and adolescents. A significant number of those who survive suffer from the lasting cognitive, physical, or behavioral effects of TBI…

Tags: 2023, Adolescent, Baird M, Brain, Brain Injuries, Brown M, Child, Delahanty S, Friebert S, Goals Of Care, Grossoehme DH, Journal of Palliative Medicine, June 2022 List, Palliative Care, Referral And Consultation, Richner G, traumatic brain injury, Villarosa R

Children and Adolescent Solid Tumours and High-Intensity End-Of-Life Care: What Can Be Done to Reduce Acute Care Admissions?

Despite improvements in survival, cancer remains the leading cause of non-accidental death in children and adolescents, who risk receiving high-intensity end-of-life (HI-EOL) care. OBJECTIVE: To analyse treatments for relapses (particularly in the…

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation

Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be…

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h,…

Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment

Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to…

Sleep alterations in juvenile neuronal ceroid-lipofuscinosis

In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify the pathophysiology…

Quality of end of life care in adolescent and young adults with cancer in Japan

Introduction About 4% of all cancers occur in adolescent and young adults (AYA) population in Japan. Quality and intensity of end-of-life (EOL) care in this population vary among different nationalities or cultures. Objectives We aimed to evaluate…

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading…

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of…

Mitochondrial disorders

In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS).…

Tags: 2004, Adult, Backlog, Brain, Child, Di Donato S, DNA, DNA/genetics, Electron Transport/genetics, Gene Rearrangement/genetics, Humans, Journal Article, Mitochondrial Diseases/genetics/therapy, Mitochondrial/genetics, Mutation, Oxidative Phosphorylation, Point Mutation/genetics, Proteins/genetics, Zeviani M

Brain and gut neuropeptides in peripheral blood mononuclear cells

Neuropeptides, initially thought to be common features of gut and brain, are only synthesized in immune cells and modulate immune functions. The presence and possible functions of these peptides in immune cells in both physiological or pathological…

The natural history of degenerative ataxia: a retrospective study in 466 patients

The aim of the present study was (i) to compare disease progression and survival in different types of degenerative ataxia, and (ii) to identify variables that may modify the rate of disease progression. We included patients suffering from…

Genetic classification of primary neurodegenerative disease

Review During the past 10 years (the "decade of the brain"), some of the genetic causes of many of the primary neurodegenerative diseases, which include Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis,…

Tags: 1998, Alzheimer Disease, Backlog, Brain, Dominant, Genes, Gwinn-Hardy K, Hardy J, Humans, Journal Article, Mutation, Nerve Tissue Proteins, Neurodegenerative Diseases, Parkinson Disease, Peptides, Science, Synucleins, tau Proteins, Trinucleotide Repeats

Physiological stress and brain vulnerability: understanding the neurobiology of connectivity in preterm infants

Tags: 2011, Annals Of Neurology, Backlog, Brain, Developmental Disabilities, Female, Humans, Infant, Infant Behavior, Intensive Care Units, Journal Article, Magnetic Resonance Imaging, Male, Msall ME, Neonatal, Pregnancy, Premature

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About…

Tags: 2012, Adrenoleukodystrophy, Animals, ATP-Binding Cassette Transporters, Aubourg P, Backlog, Berger J, Biochimica Et Biophysica Acta, Brain, Fatty Acids, Female, Humans, Journal Article, Kemp S, Mutation, Phenotype, Pregnancy, Prenatal Diagnosis

Palliative radiation therapy for pediatric patients: Parental perceptions

Purpose/Objective(s): Palliative radiation therapy (pRT) for pediatric cancer patients is often used to treat pain, neurologic symptoms, and other conditions from progressive cancer that affects quality of life. However, though the doses used are…

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