Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add more filters










Database
Language
Publication year range
1.
Head Neck ; 45(6): 1376-1388, 2023 06.
Article in English | MEDLINE | ID: mdl-37009789

ABSTRACT

BACKGROUND: Recent literature shows that tumor volume (TV) in T3 laryngeal squamous cell carcinoma (LSCC) is associated with response to radiation therapy. The aim of this study was to evaluate the effect of TV on survival outcomes in patients undergoing total laryngectomy (TL). METHODS: One hundred and seventeen patients with LSCC undergoing TL between 2013 and 2020 at the University of Florida were included. TV was measured using a previously validated method on preoperative-CT scans. Multivariable CoxPH models for overall survival (OS) and disease-specific survival (DSS), metastasis-free survival (MFS), and recurrence-free survival (RFS) were developed with TV. RESULTS: Mean age was 61.5 years and 81.2% were male. Higher TV was associated with decreased OS, MFS, DSS, and RFS with adjusted hazard ratios 1.02 (95%CI: 1.01, 1.03), 1.01, (95%CI: 1.00, 1.03), 1.03 (95%CI: 1.01, 1.06), and 1.02 (95%CI: 1.00, 1.03) respectively. TV >7.1 cc had worse prognoses. CONCLUSIONS: TV appears associated with decreased survival in LSCC treated with TL.


Subject(s)
Carcinoma, Squamous Cell , Head and Neck Neoplasms , Laryngeal Neoplasms , Humans , Male , Middle Aged , Female , Laryngeal Neoplasms/pathology , Laryngectomy/methods , Tumor Burden , Carcinoma, Squamous Cell/pathology , Retrospective Studies , Squamous Cell Carcinoma of Head and Neck/pathology , Head and Neck Neoplasms/pathology , Neoplasm Staging
2.
Clin Imaging ; 79: 330-336, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34399289

ABSTRACT

PURPOSE: Cranial nerves (CNs), particularly CN IV and VI are difficult to visualize with conventional MRI techniques, particularly within the cavernous sinus region. The aim of this study was to evaluate the capacity of high-resolution contrast enhanced 3D time-of-flight (TOF) MR angiography using new generation 3 T imaging technology to provide detailed visualization of CN VI anatomy, particularly within the cavernous sinus and petroclival regions. METHODS: Two neuroradiologists conducted bilateral evaluation of CN VI visibility in 23 patients for nerve segments located in the petroclival segment (dural cave and Dorello's canal), and three divisions of the cavernous sinus. All images were collected using contrast enhanced TOF MR angiography using a new generation 3 T machine. RESULTS: Of the CN VI segments assessed, average visibility of CN VI was best achieved in Dorello's canal. Overall visibility of CN VI within the regions inspected was best achieved in the axial view, with the exception of the dural cave, which was best assessed using the coronal view. We also identified strong agreement in assessment of nerve visibility between the two reviewers. We also identified a putative CN6 duplication and a small schwannoma, highlighting the fidelity of our approach. CONCLUSION: Contrast enhanced 3D TOF MR angiography can visualize CN VI anatomy, particularly within the petrocavernosal region and cavernous sinus with simultaneous visualization of arterial and venous structures. This cannot be easily achieved using traditional MRI techniques. This imaging technique might be used with new generation machines to evaluate CN VI anatomy and pathologies within the petrocavernosal region and cavernous sinus, especially relating to vascular pathologies.


Subject(s)
Abducens Nerve , Cavernous Sinus , Angiography , Cavernous Sinus/diagnostic imaging , Cranial Nerves , Humans , Imaging, Three-Dimensional , Magnetic Resonance Angiography , Magnetic Resonance Imaging
3.
Am J Hum Genet ; 102(5): 858-873, 2018 05 03.
Article in English | MEDLINE | ID: mdl-29727687

ABSTRACT

The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish. The clinical presentation was severe, early-onset, progressive SMA-like motor neuronopathy, cerebellar atrophy, and in one affected individual, congenital fractures of the long bones. Three affected individuals of different ethnicity carried the homozygous c.41T>C (p.Leu14Pro) variant, whereas one affected individual was compound heterozygous for c.41T>C (p.Leu14Pro) and c.481C>T (p.Arg161∗). We detected reduced EXOSC9 in fibroblasts and skeletal muscle and observed a reduction of the whole multi-subunit exosome complex on blue-native polyacrylamide gel electrophoresis. RNA sequencing of fibroblasts and skeletal muscle detected significant >2-fold changes in genes involved in neuronal development and cerebellar and motor neuron degeneration, demonstrating the widespread effect of the variants. Morpholino oligonucleotide knockdown and CRISPR/Cas9-mediated mutagenesis of exosc9 in zebrafish recapitulated aspects of the human phenotype, as they have in other zebrafish models of exosomal disease. Specifically, portions of the cerebellum and hindbrain were absent, and motor neurons failed to develop and migrate properly. In summary, we show that variants in EXOSC9 result in a neurological syndrome combining cerebellar atrophy and spinal motoneuronopathy, thus expanding the list of human exosomopathies.


Subject(s)
Cerebellum/pathology , Exosome Multienzyme Ribonuclease Complex/genetics , Exosomes/metabolism , Genetic Variation , Motor Neurons/pathology , RNA-Binding Proteins/genetics , Spinal Cord/pathology , Amino Acid Sequence , Animals , Atrophy , Base Sequence , Cerebellum/diagnostic imaging , Child, Preschool , Exosome Multienzyme Ribonuclease Complex/chemistry , Female , Fibroblasts/metabolism , Fibroblasts/pathology , Gene Knockdown Techniques , Haplotypes/genetics , Humans , Infant , Male , Muscle, Skeletal/metabolism , Pedigree , RNA-Binding Proteins/chemistry , Zebrafish
SELECTION OF CITATIONS
SEARCH DETAIL
...