Focal segmental glomerulosclerosis (FSGS) is a pattern of kidney injury observed either as an idiopathic finding or as a consequence of underlying systemic conditions. Several genes have been identified that, when mutated, lead to inherited FSGS and/or the related nephrotic syndrome. These findings have accelerated the understanding of glomerular podocyte function and disease, motivating our search for additional FSGS genes. Using linkage analysis, we identified a locus for autosomal-dominant FSGS susceptibility on a region of chromosome 14q. By sequencing multiple genes in this region, we detected nine independent nonconservative missense mutations in INF2, which encodes a member of the formin family of actin-regulating proteins. These mutations, all within the diaphanous inhibitory domain of INF2, segregate with FSGS in 11 unrelated families and alter highly conserved amino acid residues. The observation that alterations in this podocyte-expressed formin cause FSGS emphasizes the importance of fine regulation of actin polymerization in podocyte function.
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http://dx.doi.org/10.1038/ng.505 | DOI Listing |
Agri
January 2025
Department of Anesthesiology and Reanimation, İstanbul Medipol University Faculty of Medicine, İstanbul, Türkiye.
Objectives: Breast-conserving surgery is a common breast operation type in the world. Patients may feel severe postoperative pain after the surgery. Several regional anesthesia methods are used for postoperative pain control as a part of multimodal analgesia management after breast surgery.
View Article and Find Full Text PDFJ Vet Dent
January 2025
Department of Dentistry, Oral and Maxillo-facial Surgery, Eastcott Veterinary Referrals, Part of Linnaeus Group, Swindon, UK.
Canine acanthomatous ameloblastoma (CAA) is an invasive benign epithelial odontogenic tumour most commonly affecting the mandible of large breed dogs. To the author's knowledge, this report describes the first computer-aided design patient-specific implant (PSI) that has been placed for a critical sized bone defect in mandibular reconstruction of a dog in the UK. The aim was to restore mandibular stability using a regenerative approach combining a titanium locking plate and compression-resistant matrix infused with recombinant human bone morphogenetic protein-2 (rhBMP-2) to bridge the 85 mm mandibular defect created by a segmental mandibulectomy.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Industrial Engineering, Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Introduction: Bone spinal metastases disrupt the bone homeostasis, inducing a local imbalance in the bone formation and/or resorption, with consequent loss of the structural optimisation of the vertebrae and increase of the risk of fracture. Little is known about the microstructure of the metastatic tissue, the microstructure of the tissue surrounding the lesion, and how it does compare with vertebrae with no lesions observed on the biomedical images. A comprehensive assessment of the microstructural properties of the entire vertebral body can be obtained with micro computed tomography.
View Article and Find Full Text PDFFront Oncol
January 2025
Department of Radiology, Ordos Central Hospital, Ordos, Inner Mongolia, China.
Background: Improvements in the clinical diagnostic use of magnetic resonance imaging (MRI) for the identification of liver disorders have been made possible by gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid (Gd-EOB-DTPA). Gd-EOB-DTPA-enhanced magnetic resonance imaging (MRI) technology is in high demand.
Objectives: The purpose of the study is to segment the liver using an enhanced multi-gradient deep convolution neural network (EMGDCNN) and to identify and categorize a localized liver lesion using a Gd-EOB-DTPA-enhanced MRI.
Front Neurosci
January 2025
Department of Radiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
Objective: To investigate differences in the microstructure of the spinothalamic tract (STT) white matter in people with chronic neck and shoulder pain (CNSP) using diffusion tensor imaging, and to assess its correlation with pain intensity and duration of the pain.
Materials And Methods: A 3.0T MRI scanner was used to perform diffusion tensor imaging scans on 31 people with CNSP and 24 healthy controls (HCs), employing the Automatic Fiber Segmentation and Quantification (AFQ) method to extract the STT and quantitatively analyze the fractional anisotropy (FA) and mean diffusivity (MD), reflecting the microstructural integrity of nerve fibers.
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