Book Volume 1
List of Contributors
Page: v-vi (2)
Author: Nima Rezaei and Noosha Samieefar
DOI: 10.2174/9789815039658122010004
Introduction of Common Pediatric Diseases
Page: 1-39 (39)
Author: Nima Rezaei* and Noosha Samieefar
DOI: 10.2174/9789815039658122010005
PDF Price: $30
Abstract
Pediatric health has improved over the past decades and there is a decline in
deaths caused by infectious diseases. Yet, the top three causes of disease in children
younger than 10 years in 2019 include neonatal disorders, lower respiratory tract
infections, and diarrheal diseases. While in the adolescence age group, the major causes
are road injuries, headache disorders, and self-harm. Preterm birth complications,
pneumonia, and birth asphyxia are the most leading cause of death in children under
five years. While in the five to nine years of age group, injuries, including road traffic
injuries, drowning, burns, and falls, are the leading causes of death.
Updates on Pediatric Rheumatologic Diseases
Page: 40-137 (98)
Author: Anju Gupta*
DOI: 10.2174/9789815039658122010006
PDF Price: $30
Abstract
Rheumatological disorders pose a challenge to clinicians because of
multisystemic involvement, relapsing-remitting course, and nonspecific clinical
features, which can mimic infections, malignancies, and even genetic disorders.
Common symptoms at presentation are joint pain, fever, weight loss, malaise, muscle
weakness, rash, and ulcers. While diseases, such as juvenile idiopathic arthritis,
juvenile dermatomyositis, and IgA vasculitis, are relatively easy to diagnose because of
typical clinical manifestations, others such as systemic lupus erythematosus,
scleroderma, and various vasculitides are much more challenging. No laboratory
investigation is diagnostic of a particular rheumatological disorder. Investigations, such
as antinuclear antibodies and antineutrophilic cytoplasmic antibodies, are associated
with a high false-positive rate and should be used judiciously. Most diseases except for
Kawasaki disease and IgA vasculitis are chronic and require long-term
immunosuppression for control of disease activity. Long-term prognosis has improved
over the past few decades due to better immunosuppressive regimens and better
monitoring. With an improvement in mortality rates, many children are living into
adulthood and facing issues with persistent disease activity and morbidity related to
therapeutic regimens. Future research should focus on finding better therapeutic
protocols, which should result in further improvements in survival while
simultaneously reducing drug toxicity. There is also an urgent need to define better
monitoring tools for most rheumatological conditions.
Updates on Common Oral Diseases in Children
Page: 138-170 (33)
Author: Heliya Ziaei, Shahrzad Banan and Donya Alinejhad*
DOI: 10.2174/9789815039658122010007
PDF Price: $30
Abstract
Oral and dental diseases are among the most common problems in children
worldwide. If these problems remain untreated, they can have long-term effects on the
orofacial system, chewing and speaking abilities, oral health-related quality of life, and
overall health status. Dental caries, periodontitis and gingivitis, dental malocclusion,
dental trauma, and some oral soft tissue lesions are among the most common oral
disorders in children. Early diagnosis and management of these conditions by pediatric
dentists and pediatricians necessitate being aware of the clinical manifestations of each
disease at every age. Implementing preventive intervention, accurate diagnosis, proper
treatment, and performing regular follow-ups are among the key factors for eliminating
harmful long-life consequences of poor oral and dental health status in children and
adolescents.
Updates on Pediatric Metabolic Syndrome
Page: 171-185 (15)
Author: Caroline Brand, Cézane P. Reuter and Roya Kelishadi*
DOI: 10.2174/9789815039658122010008
PDF Price: $30
Abstract
Metabolic Syndrome (MetS) is considered as the presence of clustering
metabolic risk factors. It is rapidly increasing in children and adolescents, notably in
low- and middle-income countries. It results from a complex interaction of lifestyle,
environmental, and genetic factors. Although its universal definition needs to be
determined in the pediatric age group, the main components are obesity, dyslipidemia
in terms of elevated triglycerides, and elevated blood pressure. Respectively, fatness
and fitness have a direct and inverse association with the development of MetS.
Various metabolic responses that are involved in the adipose tissue promote a link
between obesity, insulin resistance, inflammation, and future atherogenesis.
Management of pediatric MetS would need multidisciplinary interventions, including a
multicomponent approach, consisting of healthy eating, reducing screen time,
increasing physical activity, as well as providing appropriate duration and quality of
sleep. Limiting the exposure of pregnant mothers as well as children and adolescents
with endocrine disrupting chemicals is beneficial for preventing the development of
MetS. Lifestyle modification and family-centered interventions are the first-line
approaches in the treatment of MetS, and the use of medication should be considered
only for those who fail to reach healthy weight after lifestyle intervention and for those
with underlying disease and complications. Prevention and early management of
pediatric MetS are of main strategies for primordial/primary prevention of non
communicable diseases.
Updates on Pediatric Epilepsy Syndromes
Page: 186-209 (24)
Author: Ahmed Nugud*, Alaa Nugud, Assmaa Nugud and Shomous Nugud
DOI: 10.2174/9789815039658122010009
PDF Price: $30
Abstract
This chapter examines the basics of pediatric epilepsy syndromes and the
new factors in the field that lead to and result from the disturbed function. Some
disorders such as febrile seizures and idiopathic seizure disorders are fairly common in
children, and pediatricians should be familiar with the approaches used to investigate
such disorders. However, others, such as rare genetic diseases, are increasing in
incidence due to the recent advances in genetic testing and personalized medicine.
Nevertheless, epilepsy syndromes carry significant morbidity and even mortality in
children. The advent of new genetic discoveries has also brought forth new lines of
management for previously refractory diseases. The truly intractable epilepsy
syndromes might be managed with surgery as a final resort.
Updates on Pediatric Genetic Epileptic Encephalopathies: A Diagnostic Algorithmic Approach
Page: 210-230 (21)
Author: Vikas Dhiman*, Shwetha Chiplunkar and Rajnarayan R Tiwari
DOI: 10.2174/9789815039658122010010
PDF Price: $30
Abstract
Epileptic Encephalopathies (EEs) are a heterogeneous group of epilepsy
syndromes predominantly seen in neonatal, infantile, and childhood age groups. EEs
present with varied signs and symptoms often pose a diagnostic dilemma for the
treating physician. The diagnostic complexities imposed by variable age of presentation
and overlapping clinical signs and symptoms in EEs are further increased by
exhaustive new information from advanced molecular genetic techniques like nextgeneration sequencing. Taking into account all these challenges, the main objective of
this chapter is to briefly outline important diagnostic signs and symptoms, EEG,
imaging and genetic findings of common neonatal, infantile and childhood-onset
genetic epileptic encephalopathies, and secondly, to draw a simple and pragmatic
diagnostic algorithm for the diagnosis of genetic epileptic encephalopathies by the
treating physicians. Systematic diagnostic algorithms of commonly occurring EEs
would not only guide physicians regarding the management of the patients but also
help to counsel parents regarding the prognosis, risk of inheritance, and prenatal
testing
Updates on Pediatric Demyelinating Disorders
Page: 231-259 (29)
Author: Amit Agrawal* and Umesh Pandwar
DOI: 10.2174/9789815039658122010011
PDF Price: $30
Abstract
Myelin is a protective layer that enwraps the axonal terminals and is an
essential component of the central nervous system white matter. Loss of myelin leads
to conduction block in the axon leading to demyelinating disorders. Inherited poor
formation of myelin is known as hypomyelination, and abnormally formed myelin is
called dysmyelination. Demyelinating disorders exclude diseases where degeneration of
the axon is the initial event and myelin is degraded secondarily. Most neurologists use
the term demyelination only for acquired forms of loss of myelin with relative
preservations of axons due to inflammation such as multiple sclerosis. Demyelinating
disease in children may be monophasic (e.g., acute disseminated encephalomyelitis,
optic neuritis, and transverse myelitis) or chronic (multiple sclerosis and neuromyelitis
optica). Pediatric multiple sclerosis is the most common demyelinating disorder in
children. Recent genetic and clinical researches have significantly improved our
understanding of the diverse spectrum of pediatric demyelinating disorders. In this
chapter, an updated summary of the current knowledge on the categories, diagnosis, as
well as management of pediatric demyelinating disorders has been presented.
Updates on Atopic Dermatitis
Page: 260-309 (50)
Author: Edna Morán-Villaseñor and María Teresa García-Romero*
DOI: 10.2174/9789815039658122010012
PDF Price: $30
Abstract
Atopic dermatitis (AD) or atopic eczema is a complex and multifactorial
chronic inflammatory skin disease that is characterized by intense itching and recurrent
eczematous lesions. It is very frequent, affecting up to 20% of children in developed
countries, and its prevalence has increased worldwide. Patients with AD have an
increased risk of developing food allergy, allergic rhinitis, and asthma later in life; but
may also present other comorbidities. The main symptom of AD is pruritus, which
along with sleep disturbance, decreases the quality of life not only in patients but also
in their families. Therapeutic options for AD have historically been limited, but recent
advances have increased our understanding of its underlying mechanisms, contributing
to the development of new therapies. In this chapter, we review the most recent
knowledge about etiology, pathophysiology, clinical manifestations, comorbidities, and
treatment options of AD.
Updates on Henoch-Schonlein Purpura
Page: 310-323 (14)
Author: Patricia Morán-Álvarez, Guillermo Santos-Simarro and Fernando Santos*
DOI: 10.2174/9789815039658122010013
PDF Price: $30
Abstract
Henoch-Schönlein purpura (HSP), currently also known as immunoglobulin
A (IgA) vasculitis, is the most common vasculitis in children. It is a systemic
autoimmune disease mediated by complexes containing abnormal IgA. The cause of
HSP is not well known, but the disease is often triggered by an upper respiratory
infection in individuals with genetic susceptibility. The diagnosis relies on
internationally agreed criteria, including palpable cutaneous purpura of orthostatic
location associated with at least one of the following findings: arthralgia/arthritis,
gastrointestinal manifestations, leukocytoclastic vasculitis with IgA deposits and/or
renal involvement. The skin lesions are essential for the diagnosis. The digestive
symptoms, mostly severe abdominal pain, intestinal bleeding, and more rarely,
intussusception, maybe the initial and most worrisome clinical component of HSP
during the acute presentation of the disease. Nephropathy determines the long-term
prognosis. The clinical course of HSP is, in general, favorable. Bed rest results in
remission of the purpura that often recurs as the child restarts standing and walking.
Corticosteroids are effective, although not usually required, to treat abdominal pain and
other severe manifestations. No medical treatment can avoid the possibility of renal
involvement that may occur for several months after resolution of the skin lesions.
Corticosteroids are used to treat severe forms of HSP nephropathy, which
anatomopathologically corresponds to IgA glomerulonephritis. Active research studies
are needed to clarify the pathogenesis, the prognostic factors, and the measures to be
taken for the prevention and treatment of renal disease.
Updates on Childhood-Onset Systemic Lupus Erythematosus
Page: 324-374 (51)
Author: Selma Cecilia Scheffler Mendoza, Francisco Eduardo Rivas-Larrauri and Ana Luisa Rodríguez-Lozano*
DOI: 10.2174/9789815039658122010014
PDF Price: $30
Abstract
Systemic Lupus Erythematosus (SLE) is a chronic, autoimmune, and
multisystem disease. Childhood-onset SLE (cSLE) contributes up to 20% of all cases
of SLE and refers to patients who develop the disease before their 18th anniversary.
Impressive discoveries in all aspects of the disease emerge every day; one of the most
interesting is whether cSLE is a single or a group of diseases, with diverse
physiopathologic processes but sharing a rough phenotype. Patients with early onset
disease (<5 years), with associated infections and severe disease manifestations, should
urge the possibility of monogenic SLE, which represents a small proportion of all cSLE
cases, but often with a more complicated clinical course.
Despite its being considered a rare disease, the clinical outcomes could be devastating.
Patients with cSLE had higher disease activity indexes than adults. Although the
survival has improved, it also implies that patients remain a longer period under the
effects of the disease.
Enormous advances in the understanding of the physiopathological processes are
helping to better diagnose children with lupus; still, we are distant to have a perfectly
fitted therapy for all our patients. The outstanding efforts of clinicians and researchers
to find new therapeutic strategies are encouraging.
In this chapter, you will find a concise description of the novel advancements
concerning the disease pathogenesis, classification, assessment of disease activity,
treatment, and outcomes.
Updates on Severe Combined Immunodeficiency
Page: 375-427 (53)
Author: Fausto Cossu*
DOI: 10.2174/9789815039658122010015
PDF Price: $30
Abstract
Mutations in any one of several genes essential for T lymphocyte development and function cause human Severe Combined Immunodeficiency (SCID), a
heterogeneous group of monogenic inborn errors of immunity.
Newborns with SCID acquire multiple, persistent, and severe viral, bacterial, and
fungal infections shortly after birth and rarely reach their first birthday. SCID is a
pediatric emergency: with prompt diagnosis and treatment, essentially every baby with
SCID could be cured by hematopoietic stem cell transplantation or gene therapy.
Most SCID newborns appear normal and healthy at birth, but SCID is always a prenatal
disorder of the development of T lymphocytes, and it is already present at birth.
Therefore, SCID is detected by newborn screening through measurement of TRECs (T
cell receptor excision circles), which counts naïve T lymphocytes, already absent or
markedly reduced.
The vast majority of newborns worldwide are not yet screened for SCID. The
diagnostic approach and the ‘natural history’ of affected infants and their families are
now completely different depending on whether or not neonatal screening for SCID is
available, apart from the availability/unavailability of SCID therapies (hematopoietic
stem cell transplantation, etc.).
Updates on PFAPA- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome
Page: 428-436 (9)
Author: Beata Wolska-Kuśnierz* and Bożena Mikołuć
DOI: 10.2174/9789815039658122010016
PDF Price: $30
Abstract
PFAPA- Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical
Adenitis syndrome are the most common autoinflammatory syndromes in children. In
this chapter, the characteristic manifestation and clinical criteria of PFAPA, which
remain the basis of diagnosis, are presented. The therapeutic options and prognosis are
discussed in detail.
Updates on Pediatric Hepatoblastoma
Page: 437-451 (15)
Author: Consolato M. Sergi*
DOI: 10.2174/9789815039658122010017
PDF Price: $30
Abstract
The developing human liver is embryologically central in embryogenesis. It
plays a significant role as a hematopoietic and endocrine organ. During the
development, hepatocytes change their phenotype. They vary from blueish cells to cells
with an eosinophilic nuance and decreased nucleus to cytoplasm ratio. Apart from
congenital abnormalities of this organ and inflammatory conditions that can populate
medical charts in childhood and youth, the liver's neoplastic transformation in
childhood and adolescence is a rare event. In children younger than three years, the
liver's most dramatic neoplasm is represented by the occurrence of hepatoblastoma. It
is an embryologic tumor. It retains the suffix “blastoma,” similar to neuroblastoma as
any other embryologic tumor. Hepatoblastoma originates presumably from the
primitive embryo-fetal progenitors. In this chapter, we update our knowledge of this
pediatric tumor, specifically the pathology and the treatment
Updates on Mitochondrial Disorders in Children
Page: 452-479 (28)
Author: Ramesh Bhat Y*
DOI: 10.2174/9789815039658122010018
PDF Price: $30
Abstract
Each human cell contains a few hundred mitochondria that are essential for
aerobic energy metabolism. Among many fundamental metabolic pathways in
mitochondria, the oxidative phosphorylation (OXPHOS) or the respiratory chain (RC)
represents the final stage in oxidative metabolism. RC is under the dual control of the
mitochondrial genome (mtDNA) and the nuclear genome (nDNA). The proper
assembly and functioning of the RC involve many steps. The genetic defects in
mtDNA, nDNA, and related functions of mitochondria affect the functioning of RC
resulting in insufficient energy production and organ dysfunction.
Mitochondrial disorders are increasingly recognized. The clinical manifestations vary
widely, causing a significant diagnostic challenge. Manifestations range from lesions of
single tissue or structure to widespread lesions, including myopathies,
encephalomyopathies, cardiopathies, neurogastrointestinal form, psychiatric symptoms,
or complex multisystem syndromes. Coenzyme Q10 deficiency may present with
isolated proximal muscle weakness. Leigh syndrome and MELAS are the most
common clinical multisystem syndromes. The age at onset ranges from neonatal to
adult life. The mortality remains high, and the median survival for early onset severe
disease is 12years. Initial evaluations include blood transaminases, lactate-to-pyruvate
ratio, amino acids, acylcarnitine profile, creatine kinase, and organic acids. Genetic
tests are needed for confirmation.
Treatment depends on the specific mitochondrial disorder and its severity. In an acute
presentation, an infection should be sought and treated promptly. Coenzyme Q10,
thiamine, riboflavin, lipoic acid, L-carnitine, Creatine, and L-Arginine are found to be
beneficial. Although there are no cures, treatments reduce symptoms or slow the
decline in health.
Subject Index
Page: 480-499 (20)
Author: Nima Rezaei and Noosha Samieefar
DOI: 10.2174/9789815039658122010019
Introduction
Common Pediatric Diseases: An Updated Review informs the reader about common diseases in children that are encountered by pediatricians and family physicians. Each of the 14 chapters in the volume presents updated information for readers with the aim to give them a current perspective on the topic. This book is a handy and practical compendium for medical students and healthcare professionals involved in general practice and pediatric clinics. The text starts with a quick introduction to pediatric diseases, before progressing towards specific diseases in children. The list of topics in this book includes pediatric rheumatological diseases, common oral diseases, pediatric metabolic syndromes, pediatric epilepsy syndromes, pediatric demyelinating disorder, genetic epileptic encephalopathies (with an algorithmic diagnostic approach), Henoch-Schönlein purpura, atopic dermatitis, childhood-onset systemic lupus erythematosus, Severe Combined Immunodeficiency, PFAPA, aphthous stomatitis, pharyngitis, cervical adenitis syndrome and pediatric hepatoblastoma. [Series Intro] Updates on Pediatric Health and Disease is a comprehensive series of books on infant and adolescent health and diseases. The series features volumes that update readers on current understanding in basic information and advanced clinical practice in pediatric medicine. Neonatology as well as different diseases in all subspecialties of pediatrics, including allergy and immunology, cardiology, endocrinology, gastroenterology, hematology, infectious diseases, nephrology, oncology, pulmonology, rheumatology, neurology, psychiatry and dermatology are represented in each volume.