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Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFWhat's the bug?: An unusual cause of bacterial meningitis in a patient with history of transsphenoidal surgery.
Am J Emerg Med
January 2025
Department of Emergency Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States of America. Electronic address:
Bacterial meningitis is an increasingly rare disease that carries significant morbidity and mortality. We describe the case of a 38-year-old male with a past medical history of pituitary macroadenoma with prior endonasal surgeries on prednisone therapy daily for resultant hypopituitarism and juvenile myoclonic epilepsy on lamotrigine daily who was transferred to an academic tertiary emergency department due to concern for developing pituitary apoplexy. At the outside emergency department, the patient presented complaining of sudden onset severe headache.
View Article and Find Full Text PDFA Noncatalytic Cysteine Residue Modulates Cobalamin Reactivity in the Human B Processing Enzyme CblC.
Biochemistry
January 2025
Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg im Breisgau 79106, Germany.
Human CblC catalyzes the indispensable processing of dietary vitamin B by the removal of its β-axial ligand and an either one- or two-electron reduction of its cobalt center to yield cob(II)alamin and cob(I)alamin, respectively. Human CblC possesses five cysteine residues of an unknown function. We hypothesized that Cys149, conserved in mammals, tunes the CblC reactivity.
View Article and Find Full Text PDFEtodolac Single Dose Metabolic Profile Elucidation: Pharmacokinetics and Adverse Events in Healthy Volunteers.
Pharmaceuticals (Basel)
January 2025
Health Sciences Postgraduate Program, São Francisco University-USF, Bragança Paulista 12916-900, SP, Brazil.
Background/objectives: This study investigates the metabolic profile of a single dose of etodolac in healthy volunteers, focusing on pharmacokinetics, clinical parameters, and metabolomic variations to identify biomarkers and pathways linked to drug response, efficacy, and safety.
Methods: Thirty-seven healthy volunteers, enrolled after rigorous health assessments, received a single dose of etodolac (Flancox 500 mg). Pharmacokinetic profiles were determined using tandem mass spectrometry analysis, and the metabolomic profiling was conducted using baseline samples (pre-dose) and samples at maximum drug concentration (post-dose) via liquid chromatography coupled with a quadrupole time-of-flight mass spectrometer.
Acute lymphoblastic leukemia (ALL) is a malignant condition of lymphoid progenitor cells that primarily affects the pediatric population, but also adults. The 5-year survival rate is 90% in children and approximately 40% in adults, with survival increasing through the use of peripheral stem cell allotransplantation (SCT). The relapse rate after stem cell transplantation (SCT) in adult acute lymphoblastic leukemia (ALL) patients ranges from 35% to 45%, making relapse a major cause of death in this population.
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