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View article: Status Epilepsy Syndromes Made Easy: Pediatric Perspectives
Status Epilepsy Syndromes Made Easy: Pediatric Perspectives Open
Introduction: Refractory Status Epilepsy Syndrome is a heterogeneous group of diseases associated with status epilepsy. Literature and definition have been conflicting and confusing in terms of their nomenclatures. New-onset refractory sta…
View article: Concussions analysis in 2022–2024 CONMEBOL soccer tournaments
Concussions analysis in 2022–2024 CONMEBOL soccer tournaments Open
Introduction Sports-related concussions (SRC) are a pressing global health concern. However, countries in the Global South often lack standardized diagnostic criteria, and limited medical resources lead to inconsistent SRC detection. Our s…
View article: Pediatric Arachnoid Cysts: A Comprehensive Systematic Review of Clinical Features and Therapeutic Approaches
Pediatric Arachnoid Cysts: A Comprehensive Systematic Review of Clinical Features and Therapeutic Approaches Open
Background/Objectives: Subarachnoid cysts in children, while often linked to trauma, can also rupture spontaneously without any apparent injury. Their etiology remains complex, involving congenital, traumatic, and infectious factors. This …
View article: Management of a Pseudoaneurysm After Carotid-Esophageal Fistula Repair Secondary to Button Battery Ingestion in an Infant
Management of a Pseudoaneurysm After Carotid-Esophageal Fistula Repair Secondary to Button Battery Ingestion in an Infant Open
Button battery ingestion is a significant cause of pediatric foreign body emergencies, often leading to severe complications. We present the case of an infant who developed a left common carotid-esophageal fistula after button battery inge…
View article: Human Trafficking and Exploitation of Children and Adolescents: Policy Statement
Human Trafficking and Exploitation of Children and Adolescents: Policy Statement Open
Trafficking of children and adolescents for labor and sexual exploitation is associated with significant adverse physical and mental health implications. Pediatricians and other health care professionals may encounter affected patients who…
View article: Evolution in the prescription and cost of non‐intravenous rescue benzodiazepines for the treatment of seizure emergencies
Evolution in the prescription and cost of non‐intravenous rescue benzodiazepines for the treatment of seizure emergencies Open
Objective The proportion of patients with epilepsy who have a non‐intravenous rescue benzodiazepine (non‐IV‐rBZD) available for seizure emergencies is unknown. This study aims to describe prescription patterns from 2006 to 2022, factors as…
View article: Scientific evidence in the management of traumatic brain injury in pediatrics: ibero-American academy of pediatric neurology
Scientific evidence in the management of traumatic brain injury in pediatrics: ibero-American academy of pediatric neurology Open
Traumatic brain injury (TBI) is a common problem in Latin America and affects many children. Research has advanced, but international publications do not necessarily reflect our reality. For this reason, the Ibero-American Academy of Pedia…
View article: Enhancing Protocols for Concussion Management in Professional Soccer Events
Enhancing Protocols for Concussion Management in Professional Soccer Events Open
The incidence of concussions is low in professional soccer tournaments. Protocols are necessary to protect players and educate sports professionals. However, their validation is difficult given the low incidence of concussions at this leve…
View article: Pediatric traumatic brain injuries in war zones: a systematic literature review
Pediatric traumatic brain injuries in war zones: a systematic literature review Open
Background Pediatric casualties in war zones are a devastating consequence of armed conflicts, causing significant challenges for affected children, especially in the context of poor access to care. This study aimed to understand traumatic…
View article: Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Open
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopm…
View article: Alcy R. Torres, MD
Alcy R. Torres, MD Open
Dr Alcy Torres is a pediatric neurologist who specializes in traumatic brain injury. Much of his clinical work takes place around the Pediatric Concussion Program at Boston Medical Center; a multidisciplinary center coordinating care betwe…
View article: Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with <scp>Lesch–Nyhan</scp> syndrome
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with <span>Lesch–Nyhan</span> syndrome Open
Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilatio…
View article: A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome Open
Background: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, un…
View article: It is time to rewrite state youth sports concussion laws
It is time to rewrite state youth sports concussion laws Open
Between 2009 and 2014, all 50 states and the District of Columbia passed legislation to improve the recognition and management of youth concussed in sports. These laws can include requirements for concussion training for school athletic pe…
View article: Exome sequencing identifies novel missense and deletion variants in <scp><i>RTN4IP1</i></scp> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis
Exome sequencing identifies novel missense and deletion variants in <span><i>RTN4IP1</i></span> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis Open
Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy‐10 (OPA10) is an autosomal recessive ION recently reported to be caused by mutatio…
View article: Pineal Dysgerminoma: A Misleading Clinical Course With Potential Life-Threatening Consequences
Pineal Dysgerminoma: A Misleading Clinical Course With Potential Life-Threatening Consequences Open
Pineal dysgerminomas are sporadic pediatric intracranial tumors that usually grow as midline lesions around the third ventricle, most frequently the pineal gland and the pituitary regions of the brain. The severity of symptoms is dependent…
View article: Disparities in baseline neurocognitive testing for student concussion management in Massachusetts high schools
Disparities in baseline neurocognitive testing for student concussion management in Massachusetts high schools Open
Purpose There is evidence of socioeconomic disparities with respect to the implementation of student-sports concussion laws nationally. The purpose of this study was to examine school sociodemographic characteristics associated with the pr…
View article: Evaluation of Implementation of Massachusetts Sports Concussion Regulations: Results of Focus Groups with Athletic Directors
Evaluation of Implementation of Massachusetts Sports Concussion Regulations: Results of Focus Groups with Athletic Directors Open
In 2018, the Massachusetts Department of Public Health (MDPH) conducted focus groups with athletic directors (ADs) from Massachusetts middle and high schools to assess the implementation of legislated regulations relative to the management…
View article: Neuroimaging in Pediatric Epilepsy
Neuroimaging in Pediatric Epilepsy Open
Pediatric epilepsy presents with various diagnostic challenges. Recent advances in neuroimaging play an important role in the diagnosis, management and in guiding the treatment of pediatric epilepsy. Structural neuroimaging techniques such…
View article: Neonatal Encephalopathies: A Clinical Perspective
Neonatal Encephalopathies: A Clinical Perspective Open
Seizures are the most acute evident manifestation of central nervous system dysfunction in neonates. The incidence is higher in very low weight neonates, about 58/100 live births, as opposed to full-term infants, estimated about 3.5/100 li…
View article: Brain MRI in Children with Mild Traumatic Brain Injury and Persistent Symptoms in Both Sports- and Non-sports-related Concussion
Brain MRI in Children with Mild Traumatic Brain Injury and Persistent Symptoms in Both Sports- and Non-sports-related Concussion Open
We conclude that MRI has a low diagnostic yield in this population, and based on these results we recommend that clinicians should avoid ordering MRI studies in this group. Further research is necessary to validate these results in larger …