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Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?
The hereditary disorders of vitamin B12 (cobalamin) and methylmalonic acid metabolism comprise a major group of organic acid disorders that are collectively common inborn errors of metabolism.1 Affected patients are medically fragile and suffer multisystemic complications, such as lethal metabolic instability, metabolic stroke, pancreatitis, end-stage renal failure, growth impairment, osteopenia, optic nerve atrophy, and neurocognitive delay.2 The frequency of these complications and their precipitants, long-term sequelae, and optimal treatment regimens remain ill-defined.
Source: The Journal of Pediatrics - April 13, 2015 Category: Pediatrics Authors: Jennifer L. Sloan, Irini Manoli, Charles P. Venditti Tags: Editorial Source Type: research

Renin-Angiotensin System Blocker Fetopathy
Chronic hypertension in pregnant women is associated with significant maternal and fetal morbidity and mortality, and is thought to complicate approximately 5% of the 4 million pregnancies in the US annually.1 Pregnant women with chronic hypertension are at risk for developing adverse complications, such as maternal preeclampsia, stroke, renal failure, and death.2 In addition, adverse fetal outcomes, such as intrauterine growth restriction, preterm birth, and death, are more likely among pregnant women with chronic hypertension than those without.
Source: The Journal of Pediatrics - August 5, 2015 Category: Pediatrics Authors: Janet D. Cragan, Bessie A. Young, Adolfo Correa Tags: Editorial Source Type: research

Familial Hypercholesterolemia: The Reason to Screen Children for Cholesterol Abnormalities
It is now well established that atherosclerosis begins in childhood and is progressive through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults.1,2 It is also clear that the well-known risk factors for cardiovascular disease in adults, such as diabetes, hypertension, and dyslipidemia, are important in children and adolescents.3 The key issue with dyslipidemia appears to be elevated low-density lipoprotein (LDL)-C, which is clearly involved in the development and evolution of atherosclerotic plaque in arteries.
Source: The Journal of Pediatrics - December 27, 2015 Category: Pediatrics Authors: Stephen R. Daniels Tags: Editorial Source Type: research

Lyme Neuroborreliosis: A Potentially Preventable Cause of Stroke
A 15-year-old boy presented with multiple cranial nerve palsies including bilateral facial nerve palsy, right-sided limb weakness, and cerebellar signs. Nine months previously, after a trip to the Scottish Highlands where he reported a discrete scalp rash, he began experiencing lethargy, anorexia, arthromyalgia, and headache. He attended his general practitioner 4 months into the course of this illness and was treated with a short course of oral azithromycin, following which symptoms transiently improved.
Source: The Journal of Pediatrics - January 6, 2016 Category: Pediatrics Authors: Nicholas M. Allen, Heinz Jungbluth Tags: Insights and Images Source Type: research

Coming to Terms with Cardiovascular Morbidity after Early Term Birth
There is accumulating evidence that the consequences of even late preterm birth (34-37 weeks of gestation) reach well beyond the neonatal hospitalization into morbidities commonly seen in adulthood. The Barker hypothesis proposed that fetal adaptations to suboptimal intrauterine oxygen and nutrient supply result in changes in physiology and metabolism that subsequently predispose these individuals to an increased risk of cardiovascular diseases over their lifetime, including ischemic heart disease, stroke, diabetes, and hypertension.
Source: The Journal of Pediatrics - December 4, 2017 Category: Pediatrics Authors: Susan W. Denfield, S. Kristen Sexson Tejtel Tags: Editorials Source Type: research

Not all emergency departments are alike
A medical emergency requires timely, immediate care. With that in mind, the notion that certain conditions require special expertise is not new, nor the concept that outcomes are improved when emergent care is provided in specified centers rather than in the closest available emergency department (ED). The result is the creation of trauma centers, stroke centers, and the like.
Source: The Journal of Pediatrics - February 22, 2018 Category: Pediatrics Authors: Denise M. Goodman Tags: The Editors' Perspectives Source Type: research

Transcranial Doppler Screening Adherence among Children with Sickle Cell Anemia Seen in the Emergency Department
To evaluate adherence to annual transcranial Doppler ultrasound (TCD) screening to prevent stroke among patients with sickle cell anemia (SCA) seen in the emergency department (ED).
Source: The Journal of Pediatrics - November 20, 2019 Category: Pediatrics Authors: Julie K. Weisman, Carrie E. Diamond, Sarah Kappa, Robert Sheppard Nickel Tags: Original Articles Source Type: research

How old am I really?
Telomeres are repetitive nucleotides sequences localized to the ends of each individual chromosome. They are replicated during each cellular division, but with each cell cycle they become progressively shorter. The problem is short telomeres are associated with dysregulation of cellular events such as senescence or cell death. The shortening process is accelerated by exposure to stress, smoking, obesity, lack of exercise, and poor diet. Many refer to this process as one of our “biological clocks.” In long-term studies, shortened telomeres are associated with adverse health outcomes including atherosclerosis, stroke, and Type 2 diabetes.
Source: The Journal of Pediatrics - November 22, 2019 Category: Pediatrics Authors: James F. Padbury Tags: The Editors' Perspectives Source Type: research

Do you hear what I hear? ECHO and autism
Autism spectrum disorder (ASD) is now estimated to occur in 1 of every 59 children in the US. The direct and indirect costs of caring for children and adults affected by ASD in 2015 dollars exceeded the cost of hypertension and stroke (Pediatrics 2020;145:e20193447). For these reasons and so many others, it is vital that general pediatricians and other primary care providers (PCPs) are able to recognize, screen, refer, and care for the many comorbidities that affect children and adolescents with ASD.
Source: The Journal of Pediatrics - May 21, 2020 Category: Pediatrics Authors: Jane Oski Tags: The Editors' Perspectives Source Type: research

Structural Connectomics: State of the Art and Applications in Pediatric Neurodevelopmental Disorders, Neuro-Oncology, and Arterial Ischemic Stroke
The human connectome reflects the agenda for the new era of brain networks.1 The connectome represents the structural and functional layout of brain networks and often is represented as a mathematical grid.2-4 Brain network graphs provide a simplified view of the human brain connectome, using graph theory to abstractly define the brain as a set of anatomical regions (or “nodes”) and structural connections (called “edges”).4,5
Source: The Journal of Pediatrics - May 29, 2020 Category: Pediatrics Authors: Avner Meoded, Neil A. Goldenberg, Thierry A.G. M. Huisman Tags: Supplement Source Type: research

Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary
Mitochondrial disorders may present from birth to adulthood and are characterized by dysfunction of the mitochondrial respiratory chain due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA, with an estimated incidence of 1/5000 1. Mitochondrial disorders have a broad phenotypic spectrum and may fall into one of several classic phenotypic presentations (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes: MELAS; Leber hereditary optic neuropathy: LHON; myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable sympto...
Source: The Journal of Pediatrics - September 19, 2020 Category: Pediatrics Authors: Audrey C. Woerner, Jerry Vockley Tags: Editorials Source Type: research

Primary Hypertension Beginning in Childhood and Risk for Future Cardiovascular Disease
Hypertension in adulthood continues to be a leading cause of morbidity and mortality worldwide.1 Hypertension in childhood is not uncommon, but due to the absence of data on future adverse outcomes (heart failure, stroke, kidney failure) hypertension has been defined in childhood as systolic or diastolic blood pressure (BP)>95th percentile of age, sex, and height adjusted normative BP data. The prevalence of childhood hypertension is approximately 4 percent, and the prevalence of elevated BP, a condition of higher risk for progression to hypertension, is approximately 10 percent.
Source: The Journal of Pediatrics - August 12, 2021 Category: Pediatrics Authors: Bonita Falkner, Empar Lurbe Tags: Medical Progress Source Type: research

Birth weight as destiny?
In 1989, Barker et al reported a correlation between lower birth weights and increased risk for death in adulthood from ischemic heart disease in men born between 1911-1930 in England (Lancet 1989;2:577-80. doi: https://doi.org/10.1016/s0140-6736(89)90710-1). Many subsequent studies have affirmed the relationship between birth weight and conditions such as diabetes, hypertension, and obesity. In this volume of The Journal of Pediatrics, Lilja et al report an association between birth weight and stroke in adulthood.
Source: The Journal of Pediatrics - September 22, 2021 Category: Pediatrics Authors: Raye-Ann deRegnier Tags: The Editors' Perspectives Source Type: research

Left Ventricular Function and Dimensions Are Altered Early in Infants Developing Brain Injury in the Setting of Neonatal Encephalopathy
We evaluated the association between left cardiac three-dimensional echocardiographic parameters and brain injury in a single-center prospective study of neonates with neonatal encephalopathy. On day 2 of life, neonates with brain injury had higher left ventricle end-diastolic and stroke volume, but also higher peak global circumferential strain detected by 3D-echocardiogram.
Source: The Journal of Pediatrics - June 22, 2023 Category: Pediatrics Authors: Pierre Elias, Anie Lapointe, Pia Wintermark, Shiran Sara Moore, Daniela Villegas Martinez, Jessica Simoneau, Gabriel Altit Tags: Brief Reports Source Type: research

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