A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF02010929 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-term impacts of salinity and temperature changes on Brachionus calyciflorus populations: understanding the role of intraspecific variability.
Environ Sci Pollut Res Int
January 2025
CESAM & Department of Biology, University of Aveiro, 3810-193, Aveiro, Portugal.
Worldwide, many coastal freshwater ecosystems suffer from seawater intrusion. In addition to this stressor, it is likely that the biota inhabiting these ecosystems will also need to deal with climate change-related temperature fluctuations. The resilience of populations to long-term exposure to these stressors will depend on their genetic diversity, a key for their adaptation to changing environments.
View Article and Find Full Text PDFIngestion of melamine cleaning sponges-derived microplastic fibers affects the survival and reproduction of Daphnia magna.
Ecotoxicol Environ Saf
January 2025
State Key Laboratory of Pollution Control and Resource Reuse, School of the Environment, Nanjing University, Nanjing 210023, China.
The abrasion of melamine cleaning sponges release microplastic fibers (MPFs) into the environment, yet the potential risks remain unknown. Here, we evaluated the ingestion, elimination, and toxic effects of melamine MPFs on Daphnia magna through acute and chronic exposures. This new type of MPFs displayed different morphology (a combination of linear and branched fibers with a length ranging from 10 to 157 μm) from the widely-studied MPFs released from textiles (longer and thicker linear fibers but no branched fibers).
View Article and Find Full Text PDFIn Vivo Tissue Temperature Characteristics of Contact Force Catheter With a Mesh-Shaped Irrigation Tip: A Porcine Study.
Pacing Clin Electrophysiol
January 2025
Section of Laboratory for Animal Experiments, Institute of Medical Science, Medical Research Support Center, Nihon University, School of Medicine, Tokyo, Japan.
Background: Neither the actual in vivo tissue temperatures reached with a novel contact force sensing catheter with a mesh-shaped irrigation tip (TactiFlex SE, Abbott) nor the safety profile has been elucidated.
Methods: In a porcine model (n = 8), thermocouples were implanted epicardially in the superior vena cava, right pulmonary vein, and esophagus close to the inferior vena cava following a right thoracotomy. After chest closure, endocardial ablation was conducted near the thermocouples under fluoroscopic guidance.
Improved therapeutic efficacy of a bifunctional anti-C5 mAb-FH SCR1-5 fusion protein over anti-C5 mAb in an accelerated mouse model of C3 glomerulopathy.
Immunohorizons
January 2025
Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
C3 glomerulopathy (C3G), a rare kidney disease caused by dysregulation of alternative pathway complement activation, is characterized by glomerular C3 deposition, proteinuria, crescentic glomerulonephritis, and renal failure. The anti-C5 monoclonal antibody (mAb) drug eculizumab has shown therapeutic effects in some but not all patients with C3G, and no approved therapy is currently available. Here, we developed and used a triple transgenic mouse model of fast progressing lethal C3G (FHm/mP-/-hFDKI/KI) to compare the therapeutic efficacy of a bifunctional anti-C5 mAb fused to a functional factor H (FH) fragment (short consensus repeat 1-5 [SCR1-5]) and the anti-C5 mAb itself.
View Article and Find Full Text PDFSUMO-Specific Peptidase 5 Promotes Oesophageal Squamous Cell Carcinoma Growth through the NF-κB- Axis.
Front Biosci (Landmark Ed)
January 2025
Department of Cardiothoracic Surgery, The Affiliated Jiangyin Hospital of Nantong University, 214400 Jiangyin, Jiangsu, China.
Background: This study investigates the role of small ubiquitin-like modifier (SUMO)-specific peptidase 5 (SENP5), a key regulator of SUMOylation, in esophageal squamous cell carcinoma (ESCC), a lethal disease, and its underlying molecular mechanisms.
Methods: Differentially expressed genes between ESCC mouse oesophageal cancer tissues and normal tissues were analysed via RNA-seq; among them, SENP5 expression was upregulated, and this gene was selected for further analysis. Immunohistochemistry and western blotting were then used to validate the increased protein level of SENP5 in both mouse and human ESCC samples.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!