Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Previously Undiagnosed Spinal and Bulbar Muscular Atrophy as a Cause of Airway Obstruction after Robot-Assisted Laparoscopic Prostatectomy.

ABSTRACT: Preoperative vocal cord paralysis is a risk factor for postoperative respiratory distress following extubation after general anesthesia. We present an unusual case where a geriatric patient developed airway obstruction after robot-assisted laparoscopic prostatectomy.A 67-year-old male, who had suffered from left vocal cord paralysis of unknown etiology, was scheduled for robot-assisted laparoscopic prostatectomy (RALP). General anesthesia was performed without any problems. The patient, however, developed airway obstruction one hour after extubation and was reintubated following commencement of mechanical ventilation for one day. At the age of 70 years, the patient received an emergency tracheostomy due to bilateral vocal cord paralysis and then was diagnosed with spinal and bulbar muscular atrophy (SBMA). Although no muscle weakness of either upper or lower extremities was observed, rocuronium showed hypersensitivity during total laryngectomy under general anesthesia.Vocal cord paralysis combined with postoperative laryngeal edema, the cause of which was presumed to be SBMA, likely caused airway obstruction after RALP. As neuromuscular symptoms progress gradually in patients with SBMA, muscle relaxants should be used carefully, even if patients with SBMA present no immobility of their extremities.

SUBMITTER: Niki M

PROVIDER: S-EPMC5535701 | biostudies-other | 2017

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Similar Datasets

Spinal and Bulbar Muscular Atrophy Overview.

Project description:Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by an expanded repeat in the androgen receptor gene. The mutant protein is toxic to motor neurons and muscle. The toxicity is ligand-dependent and likely involves aberrant interaction of the mutant androgen receptor with other nuclear factors leading to transcriptional dysregulation. Various therapeutic strategies have been effective in transgenic animal models, and the challenge now is to translate these strategies into safe and effective treatment in patients.

| S-EPMC5094812 | biostudies-literature

Therapeutic approaches to spinal and bulbar muscular atrophy.

Project description:Spinal and bulbar muscular atrophy is a hereditary motor neuron disease caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism probably involves a toxic gain of function in the mutant protein, because other mutations that cause a loss of androgen receptor function result in a different phenotype and the mutant protein is toxic in mouse models. In these models, the toxicity is ligand-dependent and is associated with protein aggregation, as well as altered transcriptional regulation, axonal transport and mitochondrial function. Various therapeutic approaches have shown efficacy in mouse models, including androgen reduction, heat shock protein 90 (HSP90) inhibition and insulin-like growth factor (IGF)-1 overexpression. Clinical trials of androgen-reducing agents have had mixed results, with indications of efficacy but no proof of clinically meaningful benefit to date. These clinical studies have established outcome measures for future trials of other agents that have been beneficial in animal studies.

| S-EPMC2963653 | biostudies-literature

Clinical features of spinal and bulbar muscular atrophy.

Project description:Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models.

| S-EPMC2792370 | biostudies-literature

Swallowing markers in spinal and bulbar muscular atrophy.

Project description:ObjectiveWe examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis.MethodsA videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls. Swallowing of 3-mL liquid barium was analyzed by the Logemann's Videofluorographic Examination of Swallowing worksheet.ResultsOf more than 40 radiographic findings, the most pertinent abnormal findings in patients with spinal and bulbar muscular atrophy, included vallecular residue after swallow (residue just behind the tongue base), nasal penetration, and insufficient tongue movement (P < 0.001 for each) compared with healthy controls. Quantitative analyses showed that pharyngeal residue after initial swallowing, oral residue after initial swallowing, multiple swallowing sessions, and the penetration-aspiration scale were significantly worse in these patients (P ≤ 0.005 for each) than in controls. In patients with spinal and bulbar muscular atrophy, laryngeal penetration was observed more frequently in those without subjective dysphagia.InterpretationDysphagia of spinal and bulbar muscular atrophy was characterized by impaired tongue movement in the oral phase and nasal penetration followed by pharyngeal residues, which resulted in multiple swallowing sessions and laryngeal penetration. Although major limitations of reproducibility and radiation exposure still exist with videofluoroscopy, pharyngeal residue after initial swallowing and the penetration-aspiration scale might serve as potential outcome measures in clinical studies.

| S-EPMC5553229 | biostudies-literature

Mitochondrial abnormalities in spinal and bulbar muscular atrophy.

Project description:Spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease caused by polyglutamine expansion mutation in the androgen receptor (AR). We investigated whether the mutant protein alters mitochondrial function. We found that constitutive and doxycycline-induced expression of the mutant AR in MN-1 and PC12 cells, respectively, are associated with depolarization of the mitochondrial membrane. This was mitigated by cyclosporine A, which inhibits opening of the mitochondrial permeability transition pore. We also found that the expression of the mutant protein in the presence of ligand results in an elevated level of reactive oxygen species, which is blocked by the treatment with the antioxidants co-enzyme Q10 and idebenone. The mutant protein in MN-1 cells also resulted in increased Bax, caspase 9 and caspase 3. We assessed the effects of mutant AR on the transcription of mitochondrial proteins and found altered expression of the peroxisome proliferator-activated receptor gamma coactivator 1 and the mitochondrial specific antioxidant superoxide dismutase-2 in affected tissues of SBMA knock-in mice. In addition, we found that the AR associates with mitochondria in cultured cells. This study thus provides evidence for mitochondrial dysfunction in SBMA cell and animal models, either through indirect effects on the transcription of nuclear-encoded mitochondrial genes or through direct effects of the mutant protein on mitochondria or both. These findings indicate possible benefit from mitochondrial therapy for SBMA.

| S-EPMC2644643 | biostudies-literature

Spinal and bulbar muscular atrophy: pathogenesis and clinical management.

Project description:Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X-linked motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. The disease is characterised by weakness, atrophy and fasciculations in the limb and bulbar muscles. Affected males may have signs of androgen insensitivity, such as gynaecomastia and reduced fertility. Neurophysiological studies are typically consistent with diffuse denervation atrophy, and serum creatine kinase is usually elevated 2-5 times above normal. Progression of the disease is slow, and the focus of spinal and bulbar muscular atrophy (SBMA) management is to prevent complications.

| S-EPMC4284073 | biostudies-literature

Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy.

Project description:Kennedy Disease/Spinal Bulbar Muscular Atrophy (KD/SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion of the androgen receptor. We have recently found that overexpression of wildtype androgen receptor in skeletal muscle of transgenic mice results in a KD/SBMA phenotype. This surprising result challenges the orthodox view that KD/SBMA requires expression of polyglutamine expanded androgen receptor within motoneurons. Theories relating to the etiology of this disease drawn from studies of human patients, cellular and mouse models are considered with a special emphasis on potential myogenic contributions to as well as the molecular etiology of KD/SBMA.

| S-EPMC2883265 | biostudies-literature

Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?

Project description:Kennedy disease (KD, or spinal and bulbar muscular atrophy) is caused by a CAG/polyglutamine expansion in the androgen receptor (AR) gene. Both motoneurons and muscles are affected by KD, but where mutant ARs act to initiate this disease is not clear. We discuss recent insights into this disease with two main themes. (1) KD is androgen-dependent, suggesting that blocking androgen action may be an effective treatment. (2) Androgens may trigger KD by acting in muscles, which indirectly affects the motoneurons, suggesting that blocking AR function in muscles may rescue motoneurons from disease and provide an effective treatment. Future research will provide a better understanding of how androgens trigger KD and the relative contributions of motoneurons versus muscles in this disease.

| S-EPMC2603477 | biostudies-literature

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.

Project description:Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia. Methods: We deeply phenotyped and evaluated the possible extent of affected systems in all patients with SBMA in Latvia (n = 5). In addition, neurophysiological studies and blood analyses were used to perform a molecular diagnosis and evaluate biochemical values. We analyzed neurofilament light (NfL) as a possible biomarker. Results: Neurological examination revealed typical SBMA clinical manifestations; all patients had small or large nerve fiber neuropathy. Three of five patients had increased neurofilament light levels. Conclusion: The study confirms the systemic involvement in patients suffering from SBMA. Increased NfL concentration was associated with either peripheral neuropathy or decreased body mass index. The complex phenotype of the disease should be kept in mind, as it could help to diagnose patients with SBMA.

| S-EPMC7856139 | biostudies-literature

Comparison of Retzius-sparing robot-assisted laparoscopic radical prostatectomy vs standard robot-assisted radical prostatectomy: a meta-analysis.

Project description:BackgroundTo compare the postoperative continence and clinical outcomes of Retzius-sparing robot-assisted laparoscopic radical prostatectomy (RS-RALP) with non-RS RALP for patients with prostate cancer.MethodsWe searched PUBMED, EMBASE and the Cochrane Central Register from 1999 to 2019 for studies comparing RS-RALP to non-RS RALP for the treatment of prostate cancer. We used RevMan 5.2 to pool the data.ResultsA total of seven studies involving 1620 patients were included in our meta-analysis. No significant difference was found in positive surgical margins (PSM), bilateral nerve-sparing, postoperative hernia, complications, blood loss, or operative time. Postoperative continence was better with RS-RALP compared with non-RS RALP (OR = 1.02, OR: 2.86, 95% CI 1.94-4.20, p < 0.05).ConclusionsRS-RALP had a better recovery of postoperative continence than non-RS RALP. The perioperative outcomes were comparable for the two methods.

| S-EPMC7398331 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data