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Pediatric Clinics of North America

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https://www.readbyqxmd.com/read/27894455/undiagnosed-and-rare-diseases
#1
EDITORIAL
Robert M Kliegman, Brett J Bordini
No abstract text is available yet for this article.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894454/undiagnosed-and-rare-childhood-diseases
#2
EDITORIAL
Bonita F Stanton
No abstract text is available yet for this article.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894453/usual-and-unusual-manifestations-of-familial-hemophagocytic-lymphohistiocytosis-and-langerhans-cell-histiocytosis
#3
REVIEW
Craig Erker, Paul Harker-Murray, Julie-An Talano
Familial hemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH) are histiocytic diseases that occur most commonly in young children. Improvements in recognition and treatment have been substantial for both diseases in the past decade, although early and late morbidity continue to be major concerns. These two diagnoses behave differently, although the clinical spectra for both diseases are diverse and can lead to confusion and delays in diagnosis and treatment. This article focuses on the clinical and genetic spectrum of FHL as well as the clinical and treatment variations of LCH...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894452/immune-mediated-diseases-of-the-central-nervous-system-a-specificity-focused-diagnostic-paradigm
#4
REVIEW
Dominic O Co, Brett J Bordini, Arthur B Meyers, Christopher Inglese
Immune-mediated diseases of the central nervous system show wide variability both symptomatically and with respect to underlying pathophysiology. Recognizing aberrant immunologic activity as the cause of neurologic dysfunction requires establishing as precise a neuroanatomic and functional phenotype as possible, and a diagnostic and therapeutic strategy that stabilizes the patient, excludes broad categories of disease via rapidly available diagnostic assays, and maintains a broad differential diagnosis that includes immune-mediated conditions...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894451/eczema-and-urticaria-as-manifestations-of-undiagnosed-and-rare-diseases
#5
REVIEW
Molly J Youssef, Yvonne E Chiu
Eczema and urticaria are common disorders encountered in pediatric patients, but they may occasionally be the presenting complaint in a child with an underlying rare disease. Immunodeficiency syndromes should be suspected when eczema is associated with neonatal onset, recurrent infections, chronic lymphadenopathy, or failure to thrive. Nutritional deficiencies and mycosis fungoides are in the differential diagnosis for a child with a recalcitrant eczematous eruption. Autoinflammatory syndromes should be suspected in a child with chronic urticaria, fever, and other systemic signs of inflammation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894450/immunodeficiency-presenting-as-an-undiagnosed-disease
#6
REVIEW
John M Routes, James W Verbsky
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894449/ending-a-diagnostic-odyssey-family-education-counseling-and-response-to-eventual-diagnosis
#7
REVIEW
Donald Basel, Julie McCarrier
Genomic sequencing is the diagnostic test of choice for families with undiagnosed or rare diseases seeking an explanation for their child's complex medical concerns. The desire to find answers can easily bias interpretation of sequencing results, and thus the counseling process is designed to facilitate informed decision making and set realistic expectations for possible outcomes. The patient case examples serve to highlight the various challenges and complexities encountered with the clinical application of genomic sequencing and to reflect some of the data that has been accrued during the past 5 years of clinical experience...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894448/the-intersection-of-medical-child-abuse-and-medical-complexity
#8
REVIEW
Hillary W Petska, John B Gordon, Debra Jablonski, Lynn K Sheets
Children with medical complexity and victims of medical child abuse may have similar clinical presentations. Atypical or unexplained signs and symptoms due to rare diseases may lead providers to suspect medical child abuse when not present. Conversely, medical child abuse may be the cause of or coexist with medical complexity. Careful consideration of whether or not medical child abuse is present is essential when assessing a child with medical complexity since either diagnosis has significant consequences for children and families...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894447/differentiating-familial-neuropathies-from-guillain-barr%C3%A3-syndrome
#9
REVIEW
Brett J Bordini, Priya Monrad
Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggestive of inherited neuropathies. GBS is typically characterized by the acute onset of ascending flaccid paralysis, areflexia, and dysesthesia secondary to peripheral nerve fiber demyelination. The disorder usually arises following a benign gastrointestinal or respiratory illness, is monophasic, reaches a nadir with several weeks, and responds to immunomodulatory therapy...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894446/fever-of-unknown-origin-in-childhood
#10
REVIEW
Michael J Chusid
Childhood fever of unknown origin (FUO) is most often related to an underlying infection but can also be associated with a variety of neoplastic, rheumatologic, and inflammatory conditions. Repeated, focused reviews of patient history and physical examination are often helpful in suggesting a likely diagnosis. Diagnostic workup should be staged, usually leaving invasive testing for last. Advances in molecular genetic techniques have increased the importance of these assays in the diagnosis of FUO in children...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894445/usual-and-unusual-manifestations-of-systemic-and-central-nervous-system-vasculitis
#11
REVIEW
James J Nocton
The idiopathic vasculitides are a group of inflammatory and immune-mediated conditions associated with inflammation of blood vessels. They affect multiple organ and body systems, and vary in their clinical manifestations, severity, prognosis, and pathology. They frequently present a diagnostic challenge for clinicians because of their complexity, overlapping features, and similar findings to other noninflammatory, genetic, or infectious conditions. This article summarizes some of the common pediatric vasculitides, emphasizing both the characteristic and unusual clinical manifestations of these diseases...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894444/unusual-structural-autonomic-disorders-presenting-in-pediatrics-disorders-associated-with-hypoventilation-and-autonomic-neuropathies
#12
REVIEW
Gisela Chelimsky, Thomas Chelimsky
Structural autonomic disorders (producing structural damage to the autonomic nervous system or autonomic centers) are far less common than functional autonomic disorders (reflected in abnormal function of a fundamentally normal autonomic nervous system) in children and teenagers. This article focuses on this uncommon first group in the pediatric clinic. These disorders are grouped into 2 main categories: those characterized by hypoventilation and those that feature an autonomic neuropathy.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894443/the-team-based-approach-to-undiagnosed-and-rare-diseases
#13
REVIEW
Robert M Kliegman, Barbara E Ruggeri, Molly Marquardt Smith
Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen. Most practitioners are unlikely to be familiar with uncommon manifestations of a common disorder and have little or no experience with rare diseases. Multidisciplinary teams are effective in reviewing patients with undiagnosed and rare diseases and in developing a new diagnostic strategy for appropriate evaluation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894442/presentation-and-diagnostic-evaluation-of-mitochondrial-disease
#14
REVIEW
David P Dimmock, Michael W Lawlor
Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may only be present in a subset of cells or body tissues. Thus, the phenotype of MD is extremely variable and the definitive diagnosis of MD is complex. This article provides a brief description of a strategy used in the diagnosis of MD, by integrating data from clinical, imaging, pathologic, molecular, and enzymatic assessments...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894441/nonclassic-inflammatory-bowel-disease-in-young-infants-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome-and-other-disorders
#15
REVIEW
Shanmuganathan Chandrakasan, Suresh Venkateswaran, Subra Kugathasan
This article discusses non-classical forms of inflammatory bowel disease (IBD) mainly occurs in infants and very young children. Defects in every aspect of the immune system, such as neutrophils, T-cell and B-cell lymphocytes, and macrophages are associated with IBD in infants. Also, non lympho-hematopoietic defects with primary defects in enterocytes can also lead to IBD-like manifestations. Clinical vignettes are presented and the genetic origins and possible management strategies are outlined. Early evaluation of these patients is important because identification of underlying immune defects would facilitate the use of better-targeted therapy for the specific genetic defect...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894440/when-autistic-behavior-suggests-a-disease-other-than-classic-autism
#16
REVIEW
Mark D Simms
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations)...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894439/when-to-suspect-autoinflammatory-recurrent-fever-syndromes
#17
REVIEW
James W Verbsky
Autoinflammatory disorders are disorders characterized by rash, arthritis, fever, and systemic inflammation. These disorders are caused by mutations in genes important in innate immune system sensors. This review highlights the workup of an individual with recurrent episodes of inflammation, features of these disorders, the genetic defects that cause these disorders, and the specific treatments available.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27894438/how-doctors-think-common-diagnostic-errors-in-clinical-judgment-lessons-from-an-undiagnosed-and-rare-disease-program
#18
REVIEW
Robert M Kliegman, Brett J Bordini, Donald Basel, James J Nocton
The scientific process of analysis and deduction is frequently, often subconsciously, used by physicians to develop a differential diagnosis based on patients' symptoms. Common disorders are most frequently diagnosed in general practice. Rare diseases are uncommon and frequently remain undiagnosed for many years. Cognitive errors in clinical judgment delay definitive diagnosis. Whole-exome sequencing has helped identify the cause of undiagnosed or rare diseases in up to 40% of children. This article provides experiences with an undiagnosed or rare disease program, where detailed data accumulation and a multifaceted analytical approach assisted in diagnosing atypical presentations of common disorders...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27865344/erratum
#19
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27865343/introduction-to-lesbian-gay-bisexual-and-transgender-youth-health
#20
EDITORIAL
Stewart L Adelson, Nadia L Dowshen, Harvey J Makadon, Robert Garofalo
No abstract text is available yet for this article.
December 2016: Pediatric Clinics of North America
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