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Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines
Purpose of review Primary mitochondrial disease is a highly heterogeneous but collectively common inherited metabolic disorder, affecting at least one in 4300 individuals. Therapeutic management of mitochondrial disease typically involves empiric prescription of enzymatic cofactors, antioxidants, and amino acid and other nutrient supplements, based on biochemical reasoning, historical experience, and consensus expert opinion. As the field continues to rapidly advance, we review here the preclinical and clinical evidence, and specific dosing guidelines, for common mitochondrial medicine therapies to guide practitioners ...
Source: Current Opinion in Pediatrics - November 11, 2020 Category: Pediatrics Tags: GENETICS: Edited by Nathaniel H. Robin Source Type: research

Polyneuropathy in Critically Ill Mechanically Ventilated Children: Experience From a Tertiary Care Hospital in North India*
Conclusions: We observed a high prevalence of critical illness polyneuropathy in children in PICU, mechanically ventilated for 7 days or more; almost all of whom had underlying sepsis.
Source: Pediatric Critical Care Medicine - September 1, 2019 Category: Pediatrics Tags: Neurocritical Care Source Type: research

What Causes Facial Nerve Palsy?
Discussion Facial nerve palsy has been known for centuries, but in 1821 unilateral facial nerve paralysis was described by Sir Charles Bell. Bell’s palsy (BP) is a unilateral, acute facial paralysis that is clinically diagnosed after other etiologies have been excluded by appropriate history, physical examination and/or laboratory testing or imaging. Symptoms include abnormal movement of facial nerve. It can be associated with changes in facial sensation, hearing, taste or excessive tearing. The right and left sides are equally affected but bilateral BP is rare (0.3%). Paralysis can be complete or incomplete at prese...
Source: PediatricEducation.org - June 3, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Vitamin D Insufficiency in Neonatal Hypoxic-Ischemic Encephalopathy.
CONCLUSIONS: Serum 25(OH) vitamin D insufficiency is present in the majority of term HIE neonates and is related to lower circulating anti-inflammatory IL-17E. Hypothermia does not mitigate vitamin D deficiency in HIE.Pediatric Research (2017); doi:10.1038/pr.2017.13. PMID: 28099429 [PubMed - as supplied by publisher]
Source: Pediatric Research - January 17, 2017 Category: Pediatrics Authors: Lowe DW, Hollis BW, Wagner CL, Bass T, Kaufman DA, Horgan MJ, Givelichian LM, Sankaran K, Yager JY, Katikaneni LD, Wiest D, Jenkins D Tags: Pediatr Res Source Type: research

Historical Perspective: A "Quick" Narrative of a Blood Coagulation Trailblazer
Physicians know Dr Armand Quick as the "Father of Blood Coagulation." His discovery of prothrombin time enabled clinicians to understand the use of vitamin K to prevent "hemorrhagic disease of the newborn" and to identify hereditary and acquired bleeding disorders in pediatric and adult patients. Quick suggested 50 years ago that aspirin could prevent myocardial infarction and stroke, a concept that perseveres today. His lifetime of research on bleeding and anticoagulants created this discipline in modern hematology.
Source: NeoReviews recent issues - October 31, 2016 Category: Pediatrics Authors: Wahidi, L. S., Sherman, J., Sherman, M. P. Tags: Pediatric Drug Labeling Update Articles Source Type: news

Warfarin Use May Not Bring Long-Term Stability for Atrial Fibrillation
Contact: Amara Omeokwe Phone: 919-681-4239 Email:amara.omeokwe@duke.eduhttps://www.dukehealth.orgEMBARGOED FOR RELEASE until 11 a.m. (ET) on Tuesday, Aug. 9, 2016DURHAM, N.C. -- Warfarin prescribed to prevent strokes in atrial fibrillation may not adequately control blood clotting over the long-term, even when patients have been historically stable on the drug, according to a study from the Duke Clinical Research Institute.The findings, published Aug. 9 in the Journal of the American Medical Association (JAMA), are based on an 18-month study of 3,749 patients diagnosed with atrial fibrillation, an irregular heart rhythm. T...
Source: DukeHealth.org: Duke Health Features - August 9, 2016 Category: Pediatrics Tags: Duke Medicine Source Type: news

Help! My daughter has become a vegetarian!
Q: My daughter has decided to follow a vegetarian diet. Do I need to worry about protein deficiency? ~ Worried Mom This is one of the most common questions that pediatricians are asked. A vegetarian diet, and especially one that includes fish, can be a very healthy option. Learn more about nutrition for vegetarians and ways your family can shift to a vegetarian diet. Q: Does my child need to eat meat to get enough protein? Complete nutrition, including adequate protein, can easily be obtained without eating meat. Meat is completely unnecessary if a diet is high in fruits, vegetables, nuts, beans, fish, whole grains, eggs...
Source: Thrive, Children's Hospital Boston - April 6, 2016 Category: Pediatrics Authors: Carolyn Sax Tags: Parenting Teen Health Dr. Carolyn Sax vegetarian Source Type: news

What Genetics are Associated with Multiple Sclerosis?
Discussion Multiple sclerosis (MS) is “a chronic degenerative, often episodic disease of the central nervous system marked by patchy destruction of the myelin that surrounds and insulates nerve fibers, usually appearing in young adulthood and manifested by one or more mild to severe neural and muscular impairments, as spastic weakness in one or more limbs, local sensory losses, bladder dysfunction, or visual disturbances.” It is a chronic disease and therefore symptoms must occur more than once. The first episode is called an acute demyelinating attack. Fifteen to forty-five percent of children with their first...
Source: PediatricEducation.org - April 4, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

What Are Common Inherited Thrombophilias?
Discussion Thrombophilia is the increased risk of thromboembolic disease due to a disorder. Thrombophilia can be inherited or acquired (such as antiphospholipid syndrome). The risk of thromboembolic events is much lower in children than adults. At-risk patients should avoid: Dehydration Sitting for prolonged time periods during travel Obesity Smoking Estrogen containing oral contraceptives Common inherited thrombophilias include: Prothrombin (Factor II mutation) Second most common Genetics: 1-2% prevalence is variable depending on location and ethnic background. Cause: Abnormal point mutation of the prothrombin gene t...
Source: PediatricEducation.org - May 25, 2015 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

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