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Pediatrics Growth and Development

Growth and Development

VEPs measure retinal gene therapy effects in children

Pattern visual evoked potentials can objectively measure the effects of retinal gene therapy on retinogeniculostriate function in young children with early-onset inherited retinal dystrophies.

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Editor's Choice

Gut-immune-brain interactions during neurodevelopment

Gut microbiota and associated immune responses seem to have a significant role in influencing brain development and function. What does this mean for the treatment of neurodevelopmental disorders and epileptic syndromes?

Fenfluramine in developmental and epileptic encephalopathies

Expert practical recommendations on using fenfluramine, which is the latest therapeutic option for seizure management in Dravet syndrome and Lennox–Gastaut syndrome.

Growth impairment evident years before pediatric IBD diagnosis

Children with inflammatory bowel disease show signs of impaired growth in the years before diagnosis, with the most pronounced changes found in those with Crohn’s disease.

How do you identify children with cancer predisposition syndromes?

CPS are genetic disorders that significantly increase the risk of developing malignancies. The malignant features of CPS are well-studied, but recognizing their non-malignant features is crucial for early diagnosis in children and adolescents.

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Keynote webinar | Spotlight on adolescent vaping

Growing numbers of young people are using e-cigarettes, despite warnings of respiratory effects and addiction. How can doctors tackle the epidemic, and what health effects should you prepare to manage in your clinics?

Prof. Ann McNeill
Dr. Debbie Robson
Benji Horwell
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Case Studies

Treatment of iliac arteriovenous malformation associated with trisomy 21: a case report

An adult with trisomy 21 presented with ongoing lower abdomen pain. A CT scan revealed an arteriovenous malformation and a coexisting iliac aneurysm. Co-existence of these two rare conditions is highly unusual.

Vitamin D-dependent rickets complicated with RSV infection

Vitamin D-dependent rickets type 1 A causes failure to thrive, hypotonia, and increased fracture risk, and may complicate the clinical course of lower respiratory tract infections. How would you address the therapeutic challenges in this toddler?

Chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX

A diagnosis of glycogen storage disease type IX is easy to overlook, but it should be considered in children presenting with unexplained hepatomegaly and elevated transaminase levels. Genetic analysis is vital for accurate diagnosis.

Current Reviews

Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia

It is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute …

Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis

Noonan syndrome (NS) is a RASopathy, a group of genetic disorders caused by alterations in the RAS/MAPK signalling pathway, and is associated with brain-related disorders, including intellectual developmental disorder (IDD), autism spectrum …

DNA methylation biomarkers of intellectual/developmental disability across the lifespan

Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on …

Charting the future: current and future directions in translational research for individuals with Down syndrome

The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypical …

Further Reading

Treatment Outcomes and Factors Affecting Survival in Pediatric Acute Myeloid Leukemia

This study examined the clinical, genetic, and treatment response characteristics of pediatric patients with acute myeloid leukemia (AML) treated according to the 2004 and 2012 AML-BFM protocols. This study aimed to determine survival outcomes and …

Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report

Restrictive cerebral venopathy was recently described in a young patient with cerebral venous ischemia, elevated intracranial pressure, and intracranial calcifications. It was anatomically characterized by extensive formation of tortuous small to …

A Comparative Effectiveness Study of Lorazepam or IVIg Versus no Treatment for Down Syndrome Regression Disorder

Down syndrome (DS) is a common genetic condition caused by trisomy of chromosome 21, with an incidence of 1 in every 700 births [ 1 ]. Individuals with DS are at risk for a variety of medical issues over the lifespan, including neurological …

Molecular devolution in chronic myelomonocytic leukemia during treatment with decitabine/cedazuridine: A case report

Oral decitabine/cedazuridine has been studied in chronic myelomonocytic leukemia (CMML) recently but the molecular changes during this treatment have not been reported so far. We report a CMML patient who was treated with oral …

Image Credits
DNA double helix illustration/© piyaset / Getty Images, Gut-brain concept image/© SylviePM / Generated with AI / Stock.adobe.com, Boy sitting on his mother's lap during a medical consultation/© Dragana Gordic / stock.adobe.com (symbolic image with models), Boy having his height measured/© New Africa / Stock.adobe.com (symbolic image with models), Illustrative photos of non-malignant dermatological features of cancer predisposition syndromes in children and adolescents/© 2024, Michaela Kuhlen et al, World J Pediatr, Person in orange t-shirt using an e-cigarette/© licsiren / Getty Images / iStock (symbolic image with model), Ruler for measuring height/© Pixel-Shot / Stock.adobe.com, Close-up of child's hands holding a white pill and a pill bottle/© DimaSobko / Getty Images / iStock, Adolescent girl undergoing a medical examination/© SDI Productions / Getty Images / iStock (symbolic image with models), Nurse and doctor discussing test results/© sturti / Getty Images / iStock (symbolic image with models), Angiography image central nidus and multiple dilated structures/© 2024, Yang, J. et al.; J Cardiothorac Surg, Illustration of legs with rickets/© rumruay / Stock.adobe.com, DNA mutation concept image/© Artur / stock.adobe.com