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Current Opinion in Pediatrics

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https://www.readbyqxmd.com/read/28984800/pediatric-cancer-genetics
#1
Sarah J Dean, Meagan Farmer
PURPOSE OF REVIEW: The current review will focus on the current knowledge of the contribution of both germline and somatic mutations to the development and management of cancer in pediatric patients. RECENT FINDINGS: It has long been thought that genetic mutations in both germline and somatic cells can contribute to the development of cancer in pediatric patients. With the recent advances in genomic technologies, there are now over 500 known cancer predisposition genes...
October 4, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28937509/non-ige-mediated-gastrointestinal-food-allergies
#2
Priscille Biermé, Anna Nowak-Wegrzyn, Jean-Christoph Caubet
PURPOSE OF REVIEW: We focus on recent advances regarding the epidemiology, physiopathology, diagnosis and managements of non-IgE-mediated gastrointestinal food allergies (non-IgE-GI-FAs), particularly food protein-induced enterocolitis syndrome (FPIES). RECENT FINDINGS: The first international FPIES diagnostic and management guidelines have been recently published. Although FPIES largely remains a diagnosis of exclusion, it may be more prevalent than previously thought...
September 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28937508/status-dystonicus-in-childhood
#3
Daniel E Lumsden, Mary D King, Nicholas M Allen
PURPOSE OF REVIEW: Dystonia is a common paediatric neurological condition. At its most severe, dystonia may lead to life-threatening complications, a state termed status dystonicus. This review provides an update on the definition, causes, management and outcome of childhood status dystonicus. RECENT FINDINGS: High-quality studies in childhood status dystonicus are lacking, though an increasing number of case series have been published. Status dystonicus appears to occur more frequently in children compared with adults, with a clear precipitant identified in around two-thirds of cases...
September 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28937507/programme-directors-opinions-on-medical-genetics-education-in-pediatric-residency-programmes
#4
J Austin Hamm, Michele H Nichols, Nathaniel H Robin
No abstract text is available yet for this article.
September 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28922318/vaccination-during-pregnancy-first-line-of-defense-for-expecting-mothers-and-vulnerable-young-infants
#5
Casidhe-Nicole Bethancourt, Tiffany L Wang, Joseph A Bocchini
PURPOSE OF REVIEW: Maternal vaccination is a well-tolerated and effective way to protect mothers, their developing fetuses, and their young infants from infectious diseases. Although influenza vaccine and diphtheria, tetanus, and acellular pertussis (Tdap) vaccine are recommended for all pregnant women, uptake rates in the United States remain low. This review will focus on the rationale, scientific evidence, and perceptions of vaccination during pregnancy. RECENT FINDINGS: Recent studies show that administration of influenza and Tdap vaccines during pregnancy is well tolerated and provides protection to the pregnant woman, her fetus, and young infant...
September 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28922317/medical-genetic-services-in-a-developing-country-lesson-from-thailand
#6
Chanin Limwongse
PURPOSE OF REVIEW: To give an example of how advances in medical genetics impact a developing country and how Thailand struggle to improve medical genetics services. RECENT FINDINGS: Thailand is an example of developing country with limited resources, low geneticist to population ratio, formally decentralized even though practically centralized healthcare system and growing public interest in medical genetic technology. Nonetheless, efforts have been and still being made in regard to expanding clinical genetics services, improving access to laboratory diagnosis, increasing rare disease medication in national formulary, and training of medical genetics personnel...
September 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28922319/disparities-in-access-to-care-in-marginalized-populations
#7
Elizabeth A Silberholz, Nicola Brodie, Nancy D Spector, Amy E Pattishall
PURPOSE OF REVIEW: The current article reviews recent literature related to three groups whose health is affected by barriers to the healthcare system: refugee and immigrant populations; youth who are lesbian, gay, bisexual, transgender, queer, or questioning; and those with mental health problems. RECENT FINDINGS: Refugee and immigrant populations are increasing worldwide, and recent work has focused on improving their access to mental, dental, and preventive care...
September 15, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28915150/tics-and-tourette-a-clinical-pathophysiological-and-etiological-review
#8
Russell C Dale
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914635/clinical-genetics-of-craniosynostosis
#9
Andrew O M Wilkie, David Johnson, Steven A Wall
PURPOSE OF REVIEW: When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. RECENT FINDINGS: Survey of a 13-year birth cohort of patients treated at a single craniofacial unit demonstrates that a genetic cause of craniosynostosis can be identified in one quarter of cases...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#10
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914636/dietary-intervention-for-preventing-food-allergy-in-children
#11
Yichao Wang, Katrina J Allen, Jennifer J Koplin
PURPOSE OF REVIEW: In the past decade, food allergy has been increasingly recognized as an important public health issue. The role of maternal and infant diet in the development of food allergy has been a major focus of research throughout this period. Recently, research in this area has moved from observational studies to intervention trials, and the findings from these trials have started to influence infant feeding guidelines. In this article, we review recent studies of dietary interventions for preventing food allergy, summarize current knowledge and discuss future research directions...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28906343/movement-disorders-an-update
#12
Robert C Tasker
No abstract text is available yet for this article.
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28906342/deep-brain-stimulation-for-monogenic-dystonia
#13
Bhooma R Aravamuthan, Jeff L Waugh, Scellig S Stone
PURPOSE OF REVIEW: Deep brain stimulation (DBS) has recently emerged as an important management option in children with medically refractory dystonia. DBS is most commonly used, best studied, and thought to be most efficacious for a select group of childhood or adolescent onset monogenic dystonias (designated with a standard 'DYT' prefix). We review how to clinically recognize these types of dystonia and the relative efficacy of DBS for key monogenic dystonias. RECENT FINDINGS: Though used for dystonia in adults for several years, DBS has only lately been used in children...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28906341/the-neurophysiology-of-paediatric-movement-disorders
#14
Verity M McClelland
PURPOSE OF REVIEW: To demonstrate how neurophysiological tools have advanced our understanding of the pathophysiology of paediatric movement disorders, and of neuroplasticity in the developing brain. RECENT FINDINGS: Delineation of corticospinal tract connectivity using transcranial magnetic stimulation (TMS) is being investigated as a potential biomarker for response to therapy. TMS measures of cortical excitability and neuroplasticity are also being used to investigate the effects of therapy, demonstrating neuroplastic changes that relate to functional improvements...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#15
Marco Castori, Alan Hakim
PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28872494/the-genetics-of-congenital-heart-disease%C3%A2-understanding-and-improving-long-term-outcomes-in-congenital-heart-disease-a-review-for-the-general-cardiologist-and-primary-care-physician
#16
M Abigail Simmons, Martina Brueckner
PURPOSE OF REVIEW: This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. RECENT FINDINGS: A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28786837/a-primer-to-clinical-genome-sequencing
#17
James R Priest
PURPOSE OF REVIEW: Genome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for nongenetic specialists of the processes necessary to generate and interpret clinical genome sequencing. The purpose of this review is to provide a primer on contemporary clinical genome sequencing for nongenetic specialists describing the human genome project, current techniques and applications in genome sequencing, limitations of current technology, and techniques on the horizon...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#18
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28731912/assessing-infant-and-maternal-readiness-for-newborn-discharge
#19
Ling Jing, Casidhe-Nicole Bethancourt, Thomas McDonagh
PURPOSE OF REVIEW: The review highlights the shift from prescribed length of stay (LOS) to mother-infant dyad readiness as the basis for making discharge decisions for healthy term newborns. We describe the components of readiness that should be considered in making the decision, focusing on infant clinical readiness, and maternal and familial readiness. RECENT FINDINGS: Although the Newborns' and Mothers' Health Protection Act of 1996 aimed to protect infants and mothers by establishing a minimum LOS, the American Academy of Pediatrics 2015 policy on newborn discharge acknowledges the shift from LOS-based to readiness-based discharge decision-making...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28719389/genetic-contribution-to-neurodevelopmental-outcomes-in-congenital-heart-disease-are-some-patients-predetermined-to-have-developmental-delay
#20
Caitlin K Rollins, Jane W Newburger, Amy E Roberts
PURPOSE OF REVIEW: Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. RECENT FINDINGS: A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment...
October 2017: Current Opinion in Pediatrics
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