Results 31 to 40 of about 1,136,218 (264)

Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

Biomédica: revista del Instituto Nacional de Salud, 2008
La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA.
Yolanda Cifuentes, Isabel De la Hoz, Martha Bermúdez, Clara Arteaga   +3 more
doaj   +1 more source

Prevalence of 21 Physician‐Defined Severe Toxicities Following Childhood Acute Lymphoblastic Leukemia Treatment: Australian Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier, Brittany Grantham, Camilla Grud Nielsen, Louise Lundgren, Liv Andrés‐Jensen, Kjeld Schmiegelow, Chris Selman, Gareth Ball, Elyse Passmore, David A. Elliott, Rachel Conyers   +10 more
wiley   +1 more source

Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar, Karen Thibaudeau, Mary Mathias, Heather McDaniel, Madlen Reschke, Klaus Tenbrock, Joseph M. Parker, Amy Shapiro   +7 more
wiley   +1 more source

Congenital Myasthenic Syndrome with Agrin Mutations

Pediatric Neurology Briefs, 2014
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Rational Use of Herbal Products in Pediatric Patients Treated With Anticancer Drugs in the European Union

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The use of herbal medical preparation (HMP) is rising among pediatric oncology patients, often to manage treatment‐related symptoms. Their effectiveness remains uncertain, and the risk of herb–drug interactions is underestimated.
Orianne Mahot, Mathieu Corvaisier, Laurence Spiesser‐Robelet, Mylène Duplan, Isabelle Pellier, Delphine Bourneau‐Martin, Séverine Derbré   +6 more
wiley   +1 more source

Multiple Sclerosis and Seizure Prevalence

Pediatric Neurology Briefs, 2014
Investigators from Oslo University Hospital and other centers in Norway studied changes in the prevalence and incidence of multiple sclerosis (MS) in Vestfold County, Norway, in the period 1983-2003.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Case Report: Two Families With HPDL Related Neurodegeneration

Frontiers in Genetics, 2022
There are recent reports of associations of variants in the HPDL gene with a hereditary neurological disease that presents with a wide spectrum of clinical severity, ranging from severe neonatal encephalopathy with no psychomotor development to ...
Ieva Micule, Ieva Micule, Baiba Lace, Baiba Lace, Baiba Lace, Nathan T. Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica, Nataly Laflamme, Nadie Rioux, Samarth Thonta Setty, Sander Pajusalu, Sander Pajusalu, Sander Pajusalu, Arnaud Droit, Monkol Lek, Serge Rivest, Inna Inashkina   +22 more
doaj   +1 more source

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

A retrospective study of quadrigeminal arachnoid cysts diagnosed by Magnetic Resonance Imaging and Computed Tomography in 26 dogs

Pesquisa Veterinária Brasileira
: Arachnoid cysts are accumulations of cerebrospinal fluid that occur within the arachnoid membrane due to the splitting or duplication of this structure.
Lidiane S. Alves, Diego Rodriguez, Vânia M.V. Machado, Maria J. Mamprim, Luiz C. Vulcano, Rogério M. Amorim   +5 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source