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Allergologia Et Immunopathologia 2021Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra... (Review)
Review
BACKGROUND
Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra immune clinical symptoms and a wide range of immunological phenotypes with increased susceptibility to infections, autoimmune phenomena, immune dysregulation, organ-specific pathology, and malignancy.
OBJECTIVE
To increase the pediatricians' awareness of this multifaceted group of primary immunodeficiencies in children.
METHODS
A comprehensive review of genetic background and clinical symptomatology of syndromic immunodeficiencies as well as current diagnostic approach and treatment modalities.
RESULTS
From the pediatrician's perspective, an early-life diagnosis of syndromic immunodeficiencies, which is frequently indispensable for successful life-saving immunocorrection, poses a diagnostic challenge. Increased pediatricians' awareness to recognize signs and symptoms of these diseases in affected children is of paramount importance. Current advances in molecular biotechnology and immunogenetics, resulting in the implementation of newborn screening and new-generation sequencing, provide informative tools for definitive diagnosis and, in many new disease entities, for their definition and genotype-phenotype delineation and correlation.
CONCLUSIONS
A broad spectrum of clinical phenotypes in children with syndromic primary immunodeficiencies requires pediatrician's special attention, that is, individualized multidisciplinary approach under the supervision of a clinical immunologist.
Topics: Humans; Immunologic Deficiency Syndromes; Neoplasms; Pediatricians; Phenotype
PubMed: 34224226
DOI: 10.15586/aei.v49i4.200 -
Journal of Paediatrics and Child Health Oct 2021Paediatric atrial fibrillation (AF) is an infrequent entity in the absence of congenital heart disease as children are unlikely to have the structural and functional... (Review)
Review
Paediatric atrial fibrillation (AF) is an infrequent entity in the absence of congenital heart disease as children are unlikely to have the structural and functional changes in their myocardium to sustain the arrhythmia. Any child presenting with this arrhythmia needs to be carefully evaluated for concealed cardiac pathology such as cardiomyopathy or inherited arrhythmia syndromes. AF leading to a haemodynamically unstable patient is rare and should prompt synchronised cardioversion, while stable patients can be discussed with a paediatric cardiologist. Tachycardia-induced cardiomyopathy and thromboembolism are possible complications of sustained AF and anticoagulation is usually indicated to prevent the latter. Risk of AF increases with age and body mass index. Obesity and athletics are known risk factors and recurrence can be seen even in the absence of any identifiable underlying pathology.
Topics: Atrial Fibrillation; Child; Electric Countershock; Heart; Humans; Pediatricians; Recurrence
PubMed: 34463966
DOI: 10.1111/jpc.15714 -
Academic Pediatrics Aug 2020
Topics: Attitude to Death; Humans; Parent-Child Relations; Pediatricians; Physician-Patient Relations
PubMed: 31669754
DOI: 10.1016/j.acap.2019.10.012 -
Italian Journal of Pediatrics Jun 2023Gender dysphoria is a clinical condition characterized by significant distress due to the discordance between biological sex and gender identity. Currently, gender... (Review)
Review
Gender dysphoria is a clinical condition characterized by significant distress due to the discordance between biological sex and gender identity. Currently, gender dysphoria is also found more frequently in children and adolescents, thanks to greater social sensibleness and new therapeutic possibilities. In fact, it is estimated that the prevalence of gender dysphoria in pediatric age is between 0.5% and 2% based on the statistics of the various countries. Therefore, the pediatrician cannot fail to update himself on these issues and above all should be the reference figure in the management of these patients. Even if the patient must be directed to a referral center and be followed up by a multidisciplinary team, the treating pediatrician will care to coordinate the clinical and therapeutic framework. The aim of the present report is therefore to integrate literature data with our clinical experience to propose a new clinical approach in which the pediatrician should be the reference in the care of these patients, directing them towards the best therapeutic approach and staying in contact with the specialists of the referral center.
Topics: Humans; Adolescent; Child; Female; Male; Gender Dysphoria; Gender Identity; Pediatricians; Referral and Consultation
PubMed: 37316904
DOI: 10.1186/s13052-023-01466-z -
Pediatrics in Review Sep 2019
Review
Topics: Death, Sudden, Cardiac; Diagnosis, Differential; Electrocardiography; Family; Humans; Pediatricians; Physician's Role; Risk Assessment; Syncope
PubMed: 31477588
DOI: 10.1542/pir.2018-0241 -
JAMA Pediatrics Oct 2022
Topics: Humans; Pediatricians
PubMed: 35969386
DOI: 10.1001/jamapediatrics.2022.2868 -
Indian Pediatrics Aug 2021Exome sequencing is gaining popularity as a genomic test for the diagnosis of Mendelian disorders in children. It is essential for pediatricians to familiarize... (Review)
Review
Exome sequencing is gaining popularity as a genomic test for the diagnosis of Mendelian disorders in children. It is essential for pediatricians to familiarize themselves with this technique and its interpretation. This brief review discusses some of the key components of a clinical or research report on exome sequencing for a practicing pediatrician, so as to enable them to utilize this test well and provide timely referrals to a clinical geneticist.
Topics: Child; Exome; Humans; Pediatricians; Referral and Consultation
PubMed: 33634792
DOI: No ID Found -
Pediatric Annals Mar 2021Paroxysmal supraventricular tachycardia (SVT) is the most common clinical arrhythmia in young patients. With an estimated prevalence of roughly 1 in 500 children, a... (Review)
Review
Paroxysmal supraventricular tachycardia (SVT) is the most common clinical arrhythmia in young patients. With an estimated prevalence of roughly 1 in 500 children, a pediatrician may knowingly or unknowingly see several patients who are affected each year. SVT symptoms can sometimes be vague or conflated with common pediatric complaints. Different forms of SVT are predominant at different ages, sometimes complicating timely recognition and referral. Differing pathophysiology and age distribution impact risk of complications such as heart failure, or rarely, sudden death. Treatment choices continue to evolve as new medications, monitoring devices, and ablation technologies continue to mature. This review focuses on the most common types of paroxysmal SVT: atrioventricular nodal reentrant tachycardia, atrioventricular reciprocating tachycardia, and Wolff-Parkinson White syndrome. Atrial arrhythmia mechanisms are also briefly outlined. It is meant to provide practical guidelines for the diagnosis and management of patients with SVT from infancy through adolescence. .
Topics: Adolescent; Child; Electrocardiography; Humans; Pediatricians; Tachycardia, Paroxysmal; Tachycardia, Supraventricular; Tachycardia, Ventricular
PubMed: 34038647
DOI: 10.3928/19382359-20210217-01 -
Pediatric Annals Dec 2023
Topics: Humans; Adolescent; Transgender Persons; Gender Identity; Transsexualism; Pediatricians
PubMed: 38049187
DOI: 10.3928/19382359-20231016-01 -
Journal of Human Genetics May 2020Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will increasingly be...
Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will increasingly be expected to interpret and apply pharmacogenetic test results into medical care. Previous studies have identified a lack of knowledge on pharmacogenetics across many physician specialties; however, this has not been systematically assessed among pediatricians. To evaluate pediatrician knowledge, attitude, and educational interest in pharmacogenetics, we surveyed physician cohorts from both the United States (U.S.) and Japan. A total of 282 pediatricians (210 from the U.S. and 72 from Japan) participated in an anonymous survey (online or hardcopy) on pharmacogenetics knowledge, perception, and education. Over 50% of all respondents had >10 years of clinical experience and >75% had some prior education in genetics. However, <10% felt they were familiar with pharmacogenetics, which was very consistent with <20% of the U.S. pediatricians correctly responding to a codeine/CYP2D6 pharmacogenetics knowledge question and <10% of U.S. pediatricians being aware of the Clinical Pharmacogenetics Implementation Consortium (CPIC). Despite being generally unfamiliar with pharmacogenetics, >80% of all respondents indicated that implementation of clinical pharmacogenetic testing will improve efficacy and safety, and that pediatricians should be capable of applying this testing to their practice. Moreover, the majority (83.1%) were interested in educational opportunities on pharmacogenetics, particularly on result interpretation and therapeutic recommendations. Taken together, these data indicate that although practical knowledge of pharmacogenetics among pediatricians in the U.S. and Japan is currently very low, their interest in clinical pharmacogenetics and related education is high, which will likely facilitate future implementation.
Topics: Adult; Female; Health Knowledge, Attitudes, Practice; Humans; Japan; Male; Middle Aged; Pediatricians; Pharmacogenetics; United States
PubMed: 31983733
DOI: 10.1038/s10038-020-0723-0