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Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.
In a number of families suffering of familial vocal cord paralysis it has previously been shown that the disease is inherited autosomal dominant. In one of the families the gene coding for the disease was located on chromosome 6q16. We will be analyzing 2 extended families with familial vocal cord paralysis to define their genetic defect leading to the disease. All family members will undergo a laryngoscopy to determine the extent of paralysis. For all family members we will isolate DNA and determine their microsatellite polymorphism on chromosome 6q16. If the results are negative we will continue the study and perform a whole genome scan to localize the gene(s) involved.
Observational Model: Family-Based, Time Perspective: Prospective
Vocal Cord Paralysis
Hadassah-Hebrew University Medical Center, Mt Scopus
Hadassah Medical Organization
Published on BioPortfolio: 2014-08-27T03:42:15-0400
People who had paralysis of the vocal cords are often prevented from breathing by this problem because the cords will not open, and the patients have to wear a tracheostomy (neck breathing...
This study evaluates a medialization implant to treat vocal cord paralysis, to permit it to adjust the quality of the voice under local or general anesthesia. The aim is to restore phonati...
The purpose of this study is to help determine the most effective treatment for participants with Unilateral Vocal Fold Paralysis. There are currently two types of operations used to trea...
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Unilateral vocal fold paralysis resulting in glottic incompetence can cause impairment of laryngeal functions, including airway protection and phonation. The objective of this study is to present an e...
George London was one of the most compelling vocal artists of the early twentieth century. At the age of 47, the great bass-baritone retired from singing. It has been suggested that the premature endi...
We used voice analysis and clinicopathological factors to explore the prognosis of unilateral vocal fold paralysis after thyroid surgery.
Bilateral vocal fold paralysis can result in shortness of breath and severe dyspnea which can be life-threatening.
Clinicians and patients benefit when they have a clear understanding of how medical conditions influence patients' life experiences. Patients' perspectives on life with unilateral vocal fold paralysis...
Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA.
A pair of cone-shaped elastic mucous membrane projecting from the laryngeal wall and forming a narrow slit between them. Each contains a thickened free edge (vocal ligament) extending from the THYROID CARTILAGE to the ARYTENOID CARTILAGE, and a VOCAL MUSCLE that shortens or relaxes the vocal cord to control sound production.
A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION.
INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...