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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
Nutrients
December 2024
Pediatric Hepatology and Liver Transplant Unit, Department of Pediatrics, ERN Rare Liver ERN TransplantChild, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDF[Epidemiological Surveillance of Mumps Virus Infections in Chile: Laboratory Diagnosis During the Occurrence of the 2018 and 2019 Outbreak].
Rev Med Chil
June 2024
Sección Virus Oncogénicos, Instituto de Salud Pública de Chile, Santiago, Chile.
Article Synopsis
- Mumps is primarily a childhood infection characterized by swollen parotid glands, but a recent outbreak in Chile affected adults aged 20-35 despite the earlier success of the triple virus vaccine.
- During 2018-2019, researchers analyzed 592 suspected mumps cases, finding a significant percentage positive for mumps antibodies (19.8% IgM and 95.9% IgG), with a notable male majority among positive IgM cases.
- Genetic analysis revealed G and N genotypes in some cases, highlighting the importance of laboratory findings in diagnosing mumps and understanding the outbreak through an epidemiological surveillance program.
Pharmacokinetics of tebipenem pivoxil used in children suffering from shigellosis: a pilot study in Bangladesh.
Sci Rep
December 2024
Clinical and Diagnostic Services, International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b), 68, Shaheed Tajuddin Ahmed Sarani, Mohakhali, Dhaka, Bangladesh.
With increasing antibiotic resistance in gram-negative bacteria, including those causing Shigellosis, evidence of safety and pharmacokinetics data on new oral antibiotics is crucial. We aimed to investigate the safety and pharmacokinetic properties of an oral carbapenem, tebipenem pivoxil, along with it's ability to produce desired results in childhood shigellosis. This randomized pilot clinical trial was conducted at Dhaka Hospital, icddr,b in 2022 between May and September.
View Article and Find Full Text PDFEvaluation of methotrexate Pharmacogenomic variation to predict acute neurotoxicity in children with acute lymphoblastic leukemia.
Pharmacotherapy
December 2024
Texas Children's Cancer and Hematology Centers, Houston, Texas, USA.
Background: Methotrexate is an important component of curative therapy in childhood acute lymphoblastic leukemia (ALL), but the role of genetic variation influencing methotrexate clearance and transport in toxicity susceptibility in children with ALL is not well established. Therefore, we evaluated the association between suspected methotrexate pharmacogenomic variants and methotrexate-related neurotoxicity.
Methods: This study included children (aged 2-20 years) diagnosed with ALL (2005-2019) at six treatment centers in the southwest United States.
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