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Pediatric Clinics of North America

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https://www.readbyqxmd.com/read/29502923/new-understanding-of-mechanisms-and-new-hope-for-treatments
#1
EDITORIAL
Bonita F Stanton
No abstract text is available yet for this article.
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502922/erratum
#2
(no author information available yet)
No abstract text is available yet for this article.
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502921/approach-to-inborn-errors-of-metabolism-in-pediatrics
#3
EDITORIAL
Ayman W El-Hattab, V Reid Sutton
No abstract text is available yet for this article.
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502920/newborn-screening-history-current-status-and-future-directions
#4
REVIEW
Ayman W El-Hattab, Mohammed Almannai, V Reid Sutton
Newborn screening programs aim to achieve presymptomatic diagnosis of treatable disorders allowing for early initiation of medical care to prevent or reduce significant morbidity and mortality. Many of the conditions included in the newborn screening panels are inborn errors of metabolism; however, screening for endocrine, hematologic, immunologic, and cardiovascular diseases, and hearing loss is also included in many panels. Newborn screening tests are not diagnostic and therefore diagnostic testing is needed to confirm or exclude the suspected diagnosis...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502919/complex-phenotypes-in-inborn-errors-of-metabolism-overlapping-presentations-in-congenital-disorders-of-glycosylation-and-mitochondrial-disorders
#5
REVIEW
Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502918/inborn-errors-of-metabolism-involving-complex-molecules-lysosomal-and-peroxisomal-storage-diseases
#6
REVIEW
Cinzia Maria Bellettato, Leroy Hubert, Maurizio Scarpa, Michael F Wangler
Peroxisomes and lysosomes are distinct subcellular compartments that underlie several pediatric metabolic disorders. Knowledge of their function and cell biology leads to understanding how the disorders result from genetic defects. Diagnostic and therapeutic approaches for the disorders take advantage of the cell biology mechanisms. Whereas peroxisomal disorders are characterized by enzymatic defects in peroxisomal pathways leading to metabolic and lipid changes, lysosomal storage disorders are marked by accumulation of substrates of lysosomal pathways inside the lysosome...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502917/inborn-errors-of-metabolism-with-hepatopathy-metabolism-defects-of-galactose-fructose-and-tyrosine
#7
REVIEW
Didem Demirbas, William J Brucker, Gerard T Berry
The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars. Although it is responsible for many essential metabolic processes, it is one of the most severely affected by metabolic disease because, in many cases, it is the first to be exposed to the toxic intermediates. The metabolism of galactose, fructose, and tyrosine involve the liver and although there are systemic findings in metabolic disease involved with these substrates, severe hepatopathy is a common presenting aspect of galactosemia, hereditary fructose intolerance, and tyrosinemia type I...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502916/inborn-errors-of-metabolism-with-myopathy-defects-of-fatty-acid-oxidation-and-the-carnitine-shuttle-system
#8
REVIEW
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502915/inborn-errors-of-metabolism-with-movement-disorders-defects-in-metal-transport-and-neurotransmitter-metabolism
#9
REVIEW
Trishna Kantamneni, Lileth Mondok, Sumit Parikh
Movement disorders in the pediatric age group are largely of the hyperkinetic type. Metal ion accumulation in the central nervous system presents predominantly with movement disorders and over time leads to psychomotor decline. Abnormalities in monoamine and amino acidergic neurotransmitter metabolism present in individuals with a combination of abnormal movements, epilepsy, and cognitive and motor delay. Detailed clinical history, careful examination, appropriate diagnostic work-up with metabolic screening, cerebrospinal fluid neurotransmitters, and targeted genetic testing help with accurate diagnosis and appropriate treatment...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502914/inborn-errors-of-metabolism-with-seizures-defects-of-glycine-and-serine-metabolism-and-cofactor-related-disorders
#10
REVIEW
Mohammed Almannai, Ayman W El-Hattab
Inborn errors of metabolism (IEM) are relatively uncommon causes for seizures in children; however, they should be considered in the differential diagnosis because several IEM are potentially treatable and seizures can be resolved if appropriate treatment is initiated. Clues from clinical presentation, physical examination, laboratory tests, and brain imaging can raise the possibility of IEM. Several IEM can present with seizures, either as the main presenting finding or as a part of a more complex phenotype...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502913/inborn-errors-of-metabolism-with-cognitive-impairment-metabolism-defects-of-phenylalanine-homocysteine-and-methionine-purine-and-pyrimidine-and-creatine
#11
REVIEW
Evgenia Sklirou, Uta Lichter-Konecki
Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual disability. The principle of eliminating the offending amino acid from the diet as a successful treatment strategy was demonstrated. The development of a low methionine diet to treat homocystinuria was established after identifying the transsulfuration pathway resulting in cysteine synthesis. Both conditions are examples of disorders of amino acid metabolism. Lesch-Nyhan syndrome, a rare disorder of purine metabolism resulting in intellectual disability and self-injurious behavior, is a classical inborn error of metabolism...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502912/inborn-errors-of-metabolism-with-hypoglycemia-glycogen-storage-diseases-and-inherited-disorders-of-gluconeogenesis
#12
REVIEW
David A Weinstein, Ulrike Steuerwald, Carolina F M De Souza, Terry G J Derks
Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and management of the hepatic glycogen storage diseases and disorders of gluconeogenesis are reviewed.
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502911/inborn-errors-of-metabolism-with-hyperammonemia-urea-cycle-defects-and-related-disorders
#13
REVIEW
Marshall L Summar, Nicholas Ah Mew
The urea cycle disorders are a group of inherited biochemical diseases caused by a complete or partial deficiency of any one of the enzymes or transport proteins required to convert toxic ammonia into urea and to produce arginine and citrulline. The clinical manifestations of these disorders are mostly the result of acute or chronic hyperammonemia, which affects the central nervous system. Affected individuals can also develop hepatic dysfunction. These disorders can present at any age from the immediate newborn to later in life...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502910/inborn-errors-of-metabolism-with-acidosis-organic-acidemias-and-defects-of-pyruvate-and-ketone-body-metabolism
#14
REVIEW
Lori-Anne P Schillaci, Suzanne D DeBrosse, Shawn E McCandless
When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of organic acid, pyruvate, and ketone body metabolism that present with acute acidosis are reviewed. Flowcharts for identifying the underlying cause and initiating life-saving therapy are provided. By evaluating electrolytes, blood sugar, lactate, ammonia, and urine ketones, the provider can determine the likelihood of an inborn error of metabolism. Freezing serum, plasma, and urine samples during the acute presentation for definitive diagnostic testing at the provider's convenience aids in the differential diagnosis...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29502909/inborn-errors-of-metabolism-overview-pathophysiology-manifestations-evaluation-and-management
#15
REVIEW
Jean-Marie Saudubray, Àngels Garcia-Cazorla
The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This review presents an updated pathophysiologic classification of inborn errors of metabolism and a method of clinical screening in neonates, late-onset emergencies, neurologic deterioration, and other common clinical scenarios. When and how to investigate a metabolic disorder is presented to encourage physicians to use sophisticated biochemical investigations and not miss a treatable disorder...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173724/pediatric-speech-and-language-perspectives-on-interprofessional-practice
#16
Brian B Shulman
No abstract text is available yet for this article.
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173723/pediatric-speech-and-language-perspectives-on-interprofessional-practice
#17
Bonita F Stanton
No abstract text is available yet for this article.
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173722/open-up-and-let-us-in-an-interprofessional-approach-to-oral-health
#18
REVIEW
Mona M Sedrak, Laura M Doss
Dental caries is the single most common chronic disease of childhood in the United States. Access to dental care is one of the barriers to improved oral health for children. Primary care providers who routinely treat children have an established role in prevention and early identification of health problems; thus, they are ideal front-line providers who can detect oral health discrepancies and begin the process of care and prevention.
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173721/an-interprofessional-team-approach-to-the-differential-diagnosis-of-children-with-language-disorders
#19
REVIEW
Xueman Lucy Liu, Dawn M Zahrt, Mark D Simms
The ability to communicate effectively with others is central to children's development. Delays or disruptions due to isolated expressive language delay, articulation errors, multiple sound production errors with motor planning deficits, or mixed expressive and receptive language delay, often bring widespread consequences. Physical anomalies, neurologic and genetic disorder, cognitive and intellectual disabilities, and emotional disturbances may affect speech and language development. Communication disorders may be misdiagnosed as intellectual impairment or autism...
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29173720/feeding-problems-in-infants-and-children-assessment-and-etiology
#20
REVIEW
Kathleen C Borowitz, Stephen M Borowitz
Feeding problems in infants and young children are common. In healthy children who are developing and growing normally, feeding problems are usually not serious and can be managed conservatively by reassuring the family and providing them with anticipatory guidance and follow-up. A majority of serious childhood feeding problems occur in children who have other medical, developmental, or behavioral problems. These are best evaluated and treated by an interprofessional team who can identify and address issues in the medical and/or developmental history, problems with oral motor control and function, problems with swallowing, and behavioral and/or sensory issues that may interfere with normal feeding...
February 2018: Pediatric Clinics of North America
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