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http://dx.doi.org/10.1093/oxfordjournals.aje.a120709 | DOI Listing |
Children (Basel)
December 2024
Department of Pediatric Hematology and Oncology, Istanbul Medical Faculty, İstanbul University, 34098 Istanbul, Turkey.
Introduction And Aim: Propranolol is an effective treatment option for infantile hemangiomas, but there is still insufficient information about neurodevelopmental side effects of propranolol. In our study, the neurodevelopmental levels of infantile hemangioma patients receiving propranolol treatment were examined using the Bayley-III test.
Method: In our single-center, cross-sectional study, patients were recruited between 1 January 2020 and 31 December 2023.
Children (Basel)
December 2024
Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear. In general, neuronal excitability and therefore seizure predisposition results from an imbalance of excitation over inhibition in neurons and neural networks of the brain. Animal models provide clues to mechanisms and thereby provide potential therapeutic approaches.
View Article and Find Full Text PDFGenes (Basel)
November 2024
Unit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qari 3007500, Israel.
Background/objectives: Biallelic mutations in the gene are associated with a rare genetic disease known as infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). In this study, we describe a new case carrying a previously identified mutation, provide an updated analysis of the relative frequencies of the clinical features across all published cases (including the three latest studies), and perform a bioinformatics analysis of the newly identified PTRH2 protein variants from a structural perspective.
Methods: Clinical examination of the patients was carried out, and genetic testing was performed using a genome sequencing strategy.
Biology (Basel)
December 2024
Department "Materno Infantile e Scienze Urologiche", University Sapienza, 00161 Rome, Italy.
The National Cancer Institute (NCI) recognizes the potential of technologies based on the use of nanoparticles (NPs) in revolutionizing clinical approaches to the diagnosis and prognosis of cancer. Recent research suggests that once NPs come into contact with the biological fluid of cancer patients, they are covered by proteins, forming a "protein corona" composed of hundreds of plasma proteins. The concept of a personalized, disease-specific protein corona, demonstrating substantial differences in NP corona profiles between patients with and without cancer, has been introduced.
View Article and Find Full Text PDFAnimals (Basel)
December 2024
Istituto Zooprofilattico Sperimentale del Piemonte, Liguria e Valle d'Aosta, Regione Amerique 7G, 11020 Quart, AO, Italy.
The research aimed to investigate the perinatal pathology of Alpine ibex () through the study of four young subjects (at the age of 3 to 4 months) found dead in Valle d'Aosta, a region of northwestern Italy. The carcasses were submitted to necropsy followed by an examination of ecto- and endoparasites (ECP and ENP); samples from the gross lesions (in summary, cutaneous papilloma and crusts, ocular discharge, lobular haemorrhagic areas in the lungs, catarrhal-haemorrhagic enterocolitis) were analysed by bacteriological, histopathological, and biomolecular methods to define the etiological agent. The subjects, with various co-infection patterns, were affected by contagious ecthyma virus (ORFV) (agent of a highly diffusive pustular dermatitis transmissible to small ruminants and humans), Enteropathogenic (EPEC) (major etiological agent of infantile diarrhoea especially in developing countries), (MC) (cause of an ocular infection common to goats and sheep), various ECP (ticks and keds) and ENP (lung and intestinal nematodes, and coccidia).
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