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61 Result(s)
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Article
Open AccessAssessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain a...
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Living Reference Work Entry In depth
Arginase Deficiency
Arginase deficiency is caused by biallelic pathogenic variants of ARG1 gene. Arginase 1 deficiency results in hepatic accumulation of intracellular arginine and release of excess arginine into the blood, which...
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Chapter
Respiratory Gas Conditioning and Humidification
The term humidity describes the amount of water in a vaporous state contained in a gas. Under-humidification of inhaled medical gas mixtures may have adverse pulmonary and systemic effects. Standards on minimu...
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Chapter
Disorders of Creatine Metabolism
Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary creatine disorders (cerebral creatine deficiency syndromes types 1–3: X-linked creatine transporter (CrT/SLC6A...
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Article
Open AccessUrine creatine metabolite panel as a screening test in neurodevelopmental disorders
Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
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Article
Open AccessEvaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...
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Article
Open AccessReligious Values in Clinical Practice are Here to Stay
Research to date has shown that health professionals often practice according to personal values, including values based on faith, and that these values impact medicine in multiple ways. While some influence o...
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Article
Open AccessOutcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....
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Article
Open AccessEstablishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
Inherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of ther...
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Article
Open AccessMudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subuni...
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Article
Open AccessPrevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders.
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Chapter
Airway Humidification
The alveolar air is fully saturated with water vapor at core body temperature while ambient air is cooler and contains less water. This gradient in heat and water vapor pressure is maintained along the nose an...
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Chapter
Indications for Invasive Conventional Mechanical Ventilation
The spectrum and severity of respiratory illness in the newly born has been changing over the past three decades with the introduction of antenatal steroids, improved management of the fetus during preterm lab...
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Chapter
Mechanical Ventilation
A mechanical ventilator is an automated device that provides all or part of the work of breathing for patients with impaired respiratory or neurologic function. In order to safely apply a mechanical ventilator...
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Article
Subcutaneous fat pads on body MRI – an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
Infants with phosphomannomutase 2 – congenital disorder of glycosylation (PMM2-CDG), formerly known as CDG1a, present with failure to thrive, visceral dysfunction, thromboembolic events and developmental delay...
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Chapter
Creatine Disorders
Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary (AGAT, GAMT, X-linked creatine transporter (SLC6A8) deficiency) and secondary (OAT deficiency) creatine disord...
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Book
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Article
Diagnostic ability of retinal ganglion cell complex, retinal nerve fiber layer, and optic nerve head measurements by Fourier-domain optical coherence tomography
To evaluate the diagnostic ability of Fourier-domain optical coherence tomography (FD-OCT) measurements in glaucoma patients, patients with ocular hypertension, and normal subjects.
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Article
European online postgraduate educational programme in neonatology—the way forward?
The provision of specialist postgraduate training is increasingly challenging for the acute medical specialties. There are often small numbers of trainees and tutors in any one centre, and service commitments ...
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Chapter
Creatine and Creatine Kinase in Health and Disease – A Bright Future Ahead?
Many links are reported or suspected between the functioning of creatine, phosphocreatine, the creatine kinase isoenzymes or the creatine biosynthesis enzymes on one hand, and health or disease on the other ha...
