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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.
Ital J Pediatr
January 2025
Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, Jiangsu, 210008, China.
Background: This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Methods: A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing.
Bacterial etiologies, antimicrobial susceptibility profiles and associated factors among patients with otitis media referred to Nekemte Public Health Research and Referral Laboratory Center, Western Ethiopia: A cross-sectional study.
BMC Microbiol
January 2025
Department of Pharmacy, College of Health Sciences, Salale University, P.O. Box 245, Fitche, Ethiopia.
Background: Otitis media is among the leading causes of illnesses responsible for causing hearing problems and adding significant costs to the public health system. Bacteria are the most common causative agents for otitis media. Currently, there is little information on the prevalence and antimicrobial susceptibility patterns of pathogenic bacterial isolates from patients with otitis media in Ethiopia.
View Article and Find Full Text PDFNovel, standardized sample collection from the brain-nose interface.
Methods
January 2025
Noselab GmbH, Widenmayerstr. 27, 80538 Munich, Germany.
Background: Diagnostics for neurodegenerative diseases lack non-invasive approaches suitable for early-stage biochemical screening and routine examination of neuropathology. Biomarkers of neurodegenerative diseases pass through the brain-nose interface (BNI) and accumulate in nasal secretion. Sample collection from the brain-nose interface presents a compelling prospect as basis for a non-invasive molecular diagnosis of neuropathologies.
View Article and Find Full Text PDFComparison of two different secondary rhinoplasties in patients with complete unilateral cleft lip and palate.
BMC Surg
December 2024
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate, West China School of Stomatology, Sichuan University, Chengdu, China.
Background: The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in patients with unilateral secondary cleft nasal deformity.
Methods: Nostril and alar symmetry were analyzed retrospectively in 13 consecutive patients in G1 and 17 in G2. Assessment of three indexes was first performed using photogrammetric measurements of photographs at pre-operation(T1), 7 days after repair (T2), and at least 6 months after repair (T3).
Development of an rpS6-Based Ex Vivo Assay for the Analysis of Neuronal Activity in Mouse and Human Olfactory Systems.
Int J Mol Sci
December 2024
Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Bugnon 27, CH-1011 Lausanne, Switzerland.
Olfactory sensitivity to odorant molecules is a complex biological function influenced by both endogenous factors, such as genetic background and physiological state, and exogenous factors, such as environmental conditions. In animals, this vital ability is mediated by olfactory sensory neurons (OSNs), which are distributed across several specialized olfactory subsystems depending on the species. Using the phosphorylation of the ribosomal protein S6 (rpS6) in OSNs following sensory stimulation, we developed an ex vivo assay allowing the simultaneous conditioning and odorant stimulation of different mouse olfactory subsystems, including the main olfactory epithelium, the vomeronasal organ, and the Grueneberg ganglion.
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