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Current Opinion in Pediatrics

Shannon Cleary, Victoria Chi, Ronald Feinstein
PURPOSE OF REVIEW: The purpose of this review is to provide an updated summary on the unique aspects of caring for female youth and adolescent athletes. RECENT FINDINGS: Recent research on female athletes has led to a better understanding of injuries and conditions that are more likely to occur in female youth and adolescent athletes, including the frequency and severity of concussions, musculoskeletal injury such as involving the anterior cruciate ligament, and the female athlete triad...
October 8, 2018: Current Opinion in Pediatrics
Joyce E Yu, Jordan S Orange, Yesim Yilmaz Demirdag
PURPOSE OF REVIEW: Primary immunodeficiency diseases (PIDs) are genetic disorders classically characterized by impaired host defense and an increased susceptibility to infection. It is now appreciated that these conditions broadly include variations in the genetic code that cause dysregulated immune function. This review highlights the newly defined PIDs in the 2017 International Union of Immunologic Societies (IUIS) report, current approaches to diagnosing PIDs, and the implications for the future management of PIDs...
October 8, 2018: Current Opinion in Pediatrics
Melanie A Ruffner, Jonathan M Spergel
PURPOSE OF REVIEW: Eosinophilic esophagitis (EoE) is a multifactorial, non-IgE-mediated inflammatory disorder of the esophagus and is the most common cause of food impaction in the pediatric population. The purpose of this review is to describe the current recommendations for diagnosis and management of EoE. RECENT FINDINGS: New data has associated EoE with other allergic disorders of the atopic march as well as several risk factors, which predispose to allergic conditions...
September 20, 2018: Current Opinion in Pediatrics
Abigail Fahim
PURPOSE OF REVIEW: Retinitis pigmentosa is a group of genetically diverse inherited blinding disorders for which there are no treatments. Owing to recent advances in imaging technology, DNA sequencing, gene therapy, and stem cell biology, clinical trials have multiplied and the landscape is rapidly changing. This review provides a relevant and timely update of current trends and future directions for the diagnosis and management of this disease. RECENT FINDINGS: This review will highlight the use of retinal imaging to measure progression of disease, next-generation sequencing for genetic diagnosis, the use of electronic retinal implants as well as noninvasive digital low-vision aids, and the current state of preclinical and clinical research with gene therapy and cell-based therapies...
September 17, 2018: Current Opinion in Pediatrics
Ivan K Chinn, Bret L Bostwick
PURPOSE OF REVIEW: Genetic testing serves an increasingly important role in the diagnosis and management of primary immunodeficiency. In this review, the strengths and limitations of various genetic testing methods are summarized, providing a foundation for the clinical approach to achieving a molecular diagnosis. RECENT FINDINGS: Rapid advances in sequencing technology have enabled the incorporation of comprehensive genetic testing into first-line clinical diagnostics...
September 17, 2018: Current Opinion in Pediatrics
Heidi K Blume
PURPOSE OF REVIEW: Headache following concussion and mild traumatic brain injury is very common in pediatrics. There is significant concern about appropriate management of acute and persistent headache following mild head injuries in children among affected youth, their families and care providers. RECENT FINDINGS: The current article will review definitions and diagnoses of posttraumatic headache (PTHA), recent research regarding risk factors for persistence of postconcussion symptoms and headaches, current recommendations for the evaluation of youth with PTHA, recent data regarding efficacy of treatment options for PTHA, and current recommendations for the treatment of acute and persistent PTHA...
September 17, 2018: Current Opinion in Pediatrics
David B Flannery
PURPOSE OF REVIEW: Demand for clinical genetics and genomics services is increasing. As discussed in this study, the clinical genetics and genomics workforce is small. How to meet the demand with a limited workforce requires innovation. RECENT FINDINGS: Background data regarding the current state of clinical genetic services including volume of services and make-up of the clinical genetics workforce are presented. The study then identifies opportunities to increase access to clinical genetic service providers using new models of service and discusses examples of solutions which have been implemented in some practice settings...
September 7, 2018: Current Opinion in Pediatrics
Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Marni J Falk
PURPOSE OF REVIEW: Primary mitochondrial disease (PMD) is a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial oxidative phosphorylation (OXPHOS) capacity. Mutations in more than 350 genes in both mitochondrial and nuclear genomes are now recognized to cause primary mitochondrial disease following every inheritance pattern. Next-generation sequencing technologies have dramatically accelerated mitochondrial disease gene discovery and diagnostic yield...
September 7, 2018: Current Opinion in Pediatrics
Catherine O Jordan, Shawn C Aylward
PURPOSE: To provide a current review of recent publications with regards to intracranial hypertension. RECENT FINDINGS: Attempts were made to provide pediatric data; however, the recent completion of the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT) has provided a wealth of data with regards to adult intracranial hypertension.The pediatric incidence of intracranial hypertension ranges between 0.63 and 0.71 per 100 000 children. A majority of pediatric cases responded to acetazolamide, with resolution of headache averaging 3...
September 3, 2018: Current Opinion in Pediatrics
Katherine Anagnostou
PURPOSE OF REVIEW: This review examines the current literature and provides insight into the role of food immunotherapy in the management of food-allergic children. Key food immunotherapy trials, benefits, and risks of the intervention, as well as areas requiring further study are all discussed. RECENT FINDINGS: Research studies have reported encouraging results regarding the efficacy of food immunotherapy in desensitizing food-allergic patients with an acceptable safety profile and a documented improvement in quality of life...
August 27, 2018: Current Opinion in Pediatrics
Gabrielle C Geddes, Michael G Earing
PURPOSE OF REVIEW: The aim of this study is to review genetics of congenital heart disease (CHD) with a focus on clinical applications, genetic testing and clinical challenges. RECENT FINDINGS: With improved clinical care, there is a rapidly expanding population of adults, especially women, with CHD who have not undergone contemporary genetic assessment and do not understand their risk for having a child with CHD. Many patients have never undergone assessment or had genetic testing...
August 22, 2018: Current Opinion in Pediatrics
Bradford L Therrell, Carmencita D Padilla
PURPOSE OF REVIEW: We review newborn screening (NBS) publications from the developing countries to identify global progress in improving child health. RECENT FINDINGS: Many developing countries do not yet have national NBS. As infant mortality rates decline, NBS gains in public health priority. Local incidence and outcome data are used to persuade health officials to include screening in priority health spending. Congenital hypothyroidism is the most cost-effective screened condition in most countries...
August 16, 2018: Current Opinion in Pediatrics
Oliver Kindler, Franz Quehenberger, Martin Benesch, Markus G Seidel
PURPOSE OF REVIEW: The risk of cancer is higher, and its outcome is worse in patients with primary immunodeficiency (PID) than in members of the general population. Thus, the inter-relationship of malignant diseases with PIDs requires more study. RECENT FINDINGS: Large genetic screens identified a vast number of germline mutations in childhood cancer patient samples. Although TP53 was the most frequent single gene identified as mutated, many PID disorders like DNA repair defects are among the inborn causes of childhood cancer...
August 16, 2018: Current Opinion in Pediatrics
Ailin Song, Jonathan D Fish
PURPOSE OF REVIEW: Over 80% of children diagnosed with cancer are now cured. The burgeoning population of survivors of childhood cancer experiences high rates of morbidity and mortality due to 'late-effects' of treatment. These can be defined as any consequence of treatment that persists beyond or develops after the completion of cancer therapy. Awareness of late-effects is critically important for pediatricians and adult providers alike, as late-effects impact children in proximity to cancer treatment, as well as adults many decades removed...
August 16, 2018: Current Opinion in Pediatrics
Kristin Sokol, Joshua D Milner
PURPOSE OF REVIEW: The mechanisms underlying the overlap of, and relationship between, atopy and immunodeficiency are just beginning to be recognized, through the identification of novel genetic conditions and the reexamination of well known primary immunodeficiencies. The present review seeks both to frame the topic and to highlight the most recent literature combining allergy in the context of immunodeficiency. RECENT FINDINGS: The true prevalence of atopic disorders in the setting of primary immunodeficiency as a whole is difficult to pinpoint, however there have been recent attempts to measure prevalence...
December 2018: Current Opinion in Pediatrics
Liliana Bezrodnik, María Isabel Gaillard, María Soledad Caldirola
PURPOSE OF REVIEW: A comparative description of dysregulatory syndromes with mutations in signal transducer and activator of transcription (STAT) genes. RECENT FINDINGS: STAT 1, 3 and 5b loss of function (LOF) and gain of function (GOF) mutations are a heterogeneous group of genetic disorders that range from immunodeficiency (ID) to autoimmune disease (AID), depending on the underlying signalling pathway defect. Between them, there are clear overlapping and differences in clinical presentation and laboratory findings...
December 2018: Current Opinion in Pediatrics
Adam M Olszewski, Mark R Proctor
PURPOSE OF REVIEW: With increasing use of MRI, more patients are being diagnosed with Chiari I malformation (CM1), many of whom are asymptomatic. When symptoms are present, headache is the most frequent presenting feature, although symptoms can be variable. The purpose of this review is to help primary care clinicians better understand the relationship between an individual's presenting symptoms and the presence of radiographic CM1, and to describe the expected outcomes for patients who undergo decompression surgery...
December 2018: Current Opinion in Pediatrics
Kristen Lambrinakos-Raymond, Alexander Sasha Dubrovsky
PURPOSE OF REVIEW: Headaches in children and adolescents are common, causing debilitating symptoms in many. Treatment of headache disorders can be complex and standard lifestyle changes as well as oral medications may offer inadequate relief. The purpose of this article is to review the mechanism of action, efficacy and technique of peripheral nerve blocks (PNBs) and the role they play in treating paediatric headache disorders. RECENT FINDINGS: Evidence for the use of PNBs in youth is limited...
December 2018: Current Opinion in Pediatrics
Anna C E Hurst
PURPOSE OF REVIEW: The current review aims to discuss the incorporation of facial recognition software into the clinical practice of dysmorphology and medical genetics. RECENT FINDINGS: Facial recognition software has improved the process of generating a differential diagnosis for rare genetic syndromes, and recent publications demonstrate utility in both research and clinical applications. Software programs are freely available to verified medical providers and can be incorporated into routine clinic encounters...
December 2018: Current Opinion in Pediatrics
M Cecilia Poli
PURPOSE OF REVIEW: Advances in sequencing techniques and systematic cohort-analysis of patients with autoinflammatory phenotypes have enabled a burst in the recognition of new autoinflammatory diseases and contributed to the description of the mechanisms involved in autoinflammation. This review focuses on new genetic and mechanistic discoveries that have broadened the definition of autoinflammatory diseases in the context of the established landscape, providing new therapeutic opportunities and avenues for further discoveries...
December 2018: Current Opinion in Pediatrics
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