Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this report we describe a novel SOD1 mutation (Gly147Ser) in an Italian sporadic ALS patient. The patient presented with hoarseness due to bilateral vocal cord paralysis and a rapid clinical course. Mutational analysis of the SOD1 gene was carried out by direct sequencing. In silico bioinformatics analysis and molecular modelling was used to analyse the SOD1 function modifications produced by the mutated residue. A heterozygous c.442 G > A transition, which leads to a change at codon 147 resulting in a serine rather than glycine, was found in the patient. Bioinformatics analysis and molecular modelling strongly suggest a dramatic effect of Gly147Ser mutation on SOD1 function. In conclusion, Gly147Ser represent a new missense mutation whose effect may correlate with the peculiar clinical bulbar phenotype onset with bilateral vocal cord paresis and rapid clinical course of the disease. Ethical and psychological dilemmas about genetic testing in apparently sporadic subjects are still matter of debate.
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PMID:Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 2192 55

Vocal cord movement disorders are increasingly recognized in patients with amyotrophic lateral sclerosis (ALS). We describe a patient with limb-onset ALS who developed vocal cord paralysis. A 74-year-old Japanese male consulted our clinic with a 6-month history of weakness in both arms. His family history was unremarkable. There were fasciculations and mild atrophy of the tongue and both arms. In the legs, muscle strength was almost normal but widespread fasciculations were present. All tendon reflexes were hypoactive and pathological reflexes were absent. Thereafter, he developed weakness of the legs and showed increased eating time. Babinski sign was positive bilaterally at this stage. The forced vital capacity dropped from 90% at the initial evaluation to 62% of the predicted value 14 months later. Two years after disease onset, the patient developed aspiration pneumonia with hoarseness and had difficulty clearing his throat of phlegm. Laryngoscopy demonstrated severe vocal cord paresis on both sides, particularly in the abductor muscles possibly leading to obstruction. Tracheotomy was performed because of the risk that the patient could choke to death. A review of the literature suggests that severe impairment of vocal cord abduction could be a prelude to sudden death in ALS. Follow up by laryngoscopic examination is necessary.
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PMID:[A case of amyotrophic lateral sclerosis with bilateral vocal cord paralysis necessitating tracheotomy]. 2201 69

We report a 68-year-old man who exhibited mild dysarthria and mild right hemiparesis resulted from hypoperfusion of the left hemisphere. An MR angiography showed a severe stenosis at the second portion of left middle cerebral artery (MCA). After the beginning of treatment, the patient suffered from hoarseness, followed by breathing failure. The laryngeal fiber exhibited right vocal cord paresis. Unilateral cortico-bulbar tract dysfunction does not typically cause vocal cord palsy. However, several cases indicate the involvement of a dominant projection from the contralateral cortico-bulbar tract to the vocal cord. In the present case, hypoperfusion of the left hemisphere might have temporarily produced right vocal cord palsy, considering the stenosis of the left MCA.
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PMID:Transient vocal cord palsy caused by hypoperfusion of unilateral hemisphere. 2211 35

Four cases of schwannoma originating from the lower cranial nerves are presented. Case 1 is a schwannoma of the vagus nerve in the parapharyngeal space. The operation was performed by the transcervical approach. Although the tumor capsule was not dissected from the vagus nerve, hoarseness and dysphagia happened transiently after the operation. Case 2 is a schwannoma in the jugular foramen. The operation was performed by the infralabyrinthine approach. Although only the intracapsular tumor was enucleated, facial palsy, hoarseness, dysphagia and paresis of the deltoid muscle occurred transiently after the operation. The patient's hearing had also slightly deteriorated. Case 3 is a dumbbell-typed schwannoma originating from the hypoglossal nerve. The hypoglossal canal was markedly enlarged by the tumor. As the hypoglossal nerves were embedded in the tumor, the tumor around the hypoglossal nerves was not resected. The tumor was significantly enlarged for a while after stereotactic irradiation. Case 4 is an intracranial cystic schwannoma originating from the IXth or Xth cranial nerves. The tumor was resected through the cerebello-medullary fissure. The tumor capsule attached to the brain stem was not removed. Hoarseness and dysphagia happened transiently after the operation. Cranial nerve palsy readily occurs after the removal of the schwannoma originating from the lower cranial nerves. Mechanical injury caused by retraction, extension and compression of the nerve and heat injury during the drilling of the petrous bone should be cautiously avoided.
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PMID:Schwannoma originating from lower cranial nerves: report of 4 cases. 2251 28

Advanced form of diffuse idiopathic skeletal hyperostosis or Forestier's disease can induce dysphagia and significant airway symptoms such as hoarseness, snoring, dyspnoea on exertion and laryngeal stridor. We have discussed the diagnosis and management of an unusual case with respiratory distress due to left cricoarytenoid joint fixation and right vocal cord paresis in conjunction with skeletal pathology.
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PMID:Crico Arytenoid Joint Fixation in Diffuse Idiopathic Skeletal Hyperostosis (DISH): A Case Report. 2275 39

A 68-year-old man was referred to our hospital for a dysphagia evolving for 10 days. Clinical examination had found neurological signs as contralateral Horner's syndrome, ipsilateral palatal paresis, gait ataxia and hoarseness. Video-fluoroscopy showed a lack of passage of contrast medium to the distal esophagus. Esogastroduodenoscopy was normal. The cranial MRI had shown an acute ischemic stroke in the left lateral medullar region and the diagnosis of Wallenberg syndrome (WS) was established. WS remains an unknown cause of dysphagia in the clinical practice of the gastroenterologist.
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PMID:Dysphagia caused by a lateral medullary infarction syndrome (Wallenberg's syndrome). 2307 13

Thyroglossal cysts are one of the most common midline neck masses. They usually present as midline painless cystic neck mass in the first three decades of life. These anomalies are very rare in elderly patients and may pose difficult diagnostic and therapeutic challenges. Here, we report a case of giant thyroglossal cyst in a 72-year-female patient who presented with stridor, hoarseness of voice, and vocal cord paresis with gross distortion of normal airway anatomy secondary to pressure effect of the mass. The gross distortion and displacement of airway along with respiratory distress in this patient posed a difficult situation in securing the airway. The airway was secured by a unique way of orotracheal intubation with the help of a ventilating airway exchange catheter. The cyst was excised in toto under general anaesthesia. The stridor completely resolved after surgery and tracheostomy was avoided.
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PMID:Stridor in an elderly woman: an unusual presentation of a giant thyroglossal cyst. 2399 73

A 57-year-old Caucasian man, otherwise fit and well, presented with a 2-week history of dysphagia, odynophagia. Two weeks prior to the presentation, he had felt a fishbone stuck in his throat which was self-extruded after 3 days. Subsequently he developed a right anterior neck swelling and hoarseness. Transnasal endoscopic examination of larynx revealed an injected and oedematous right hemilarynx with right vocal cord paresis. An ultrasound examination of the neck confirmed a collection in the neck on the right side, and frank pus was aspirated from the neck abscess and he responded well to conservative management. Subsequent examination in follow-up had shown complete recovery of vocal cord movement. The patient did not seek medical attention immediately after getting a 5 cm fishbone extruded from the throat which resulted in significant morbidity. All patients should be alerted to the possibility of delayed complications and they should be encouraged to seek urgent medical attention.
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PMID:Neck abscess and vocal cord paresis: delayed complications of a self-extruded long fishbone stuck in throat. 2424 22

The issue aimed the comparative analysis of the classical and rarely used retrojugular access to carotid arteries on the example of 151 eversion endarterectomies. Of them, 56 operations were performed with the use of retrojugular and 95 with classical access. The retrojugular access demonstrated reliable benefits considering the postoperative period. The rate of tongue numbness and agility was smaller in the retrojugular group (1.7 vs 12%), as well as round mouth muscle paresis (1.7 vs 10%). There were no cases of dysphagia and hoarseness in the group of retrojugular access.
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PMID:[Retrojugular access to carotid arteries]. 2436 93

More than half of patients presenting with hoarseness show benign vocal fold changes. The clinician should be familiar with the anatomy, physiology and functional aspects of voice disorders and also the modern diagnostic and therapeutic possibilities in order to ensure an optimal and patient specific management. This review article focuses on the diagnostic and therapeutic limitations and difficulties of treatment of benign vocal fold tumors, the management and prevention of scarred vocal folds and the issue of unilateral vocal fold paresis.
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PMID:Diagnostic and therapeutic pitfalls in benign vocal fold diseases. 2440 69


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