Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient is described who suffered from prolapse of the lower oesophageal mucosa in the presence of a Schatzki ring. There was variable dysphagia culminating in total aphagia. The clinical symptoms disappeared without any treatment once the patient had overcome several years of psychological stress. The radiological appearances gave rise to a discussion of the radiological anatomy of the terminal oesophagus with a Schatzki ring since numerous similar appearances illustrated in the literature have been interpreted as axial hiatus hernias. A comparison of manometric and radiological fingings has shown that a hernia did not exist. The advantages and errors inherent in diagnosing hernias with the help of the "three rings", as described by Hafter, are discussed. The mucosal prolapse during the stage of aphagia is demonstrated and compared with cases from the literature showing prolapse at the upper and lower vestibular margins. The mechanism leading to these appearances is discussed.
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PMID:[Invagination of the oesophageal mucosa in the presence of a Schatzki ring (author's transl)]. 15 Oct 7

Myasthenia gravis is a neuromuscular disease of insidious onset, characterized by weakness and fatigability of voluntary muscles. Most patients present with symptoms relating to the head and neck and thus may be seen first by the otolaryngologist. Predominant symptoms may be ocular (ptosis or diplopia) or related to fatigue of the oropharyngeal or laryngeal musculature (dysarthria, dysphonia, or dysphagia). Alleviation of muscular weakness and fatigability after administration of anticholinesterase drugs is pathognomonic of myasthenia gravis.
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PMID:The otolaryngologic presentation of myasthenia gravis. 44 37

A 59-year-old woman has been treated for 5 months with penicillamine for a rheumatoid arthritis and developed a myasthenia syndrome with ptosis, diplopia, dysphagia and asthenia. This myasthenia was slowly cured after suppression of the penicillamine and administration of Mestinon, so that after 3 months, the anticholinesterase medication could be stopped.
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PMID:[Myasthenia syndrome after peroral treatment with penicillamine]. 74 27

Two patients are described with distinctive clinical features including an insidious onset, slow progression, bilateral ptosis, weakness of facial muscles, dysphagia, muscle atrophy, and weakness with a distal distribution in the extremities, and cardiomopathy with conduction system disorders. Electromyographic studies and muscle biopsy showed features highly suggestive of a myopathic disorder. One case is considered to be sporadic. The other seems to be a familial disorder, because of the presence of a mild atrioventricular block and right incomplete bundle branch block in the patient's son and the presence of eyelid ptosis in his sister. This may be a variant of oculopharyngeal myopathy with distal and cardiomyopathy. It will be necessary to perform long-term follow-up studies in these families.
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PMID:Oculopharyngeal myopathy with distal and cardiomyopathy. 90 74

Four cases of oculopharyngeal dystrophy (OPD) seen within five years are presented. The cardinal features of OPD are dysphagia and ptosis. The manometric abnormalities in OPD are similar to those seen in other myopathies; low pharyngeal pressures, abnormalities in relaxation and coordination of the pharyngoesophageal sphincter and weak aperistaltic swallows in the proximal esophagus. In addition, weak aperistaltic swallows frequently occur in the distal esophagus and may exacerbate dysphagia. Although there is no specific therapy for ODP, one patient showed marked improvement following cricopharyngeal myotomy.
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PMID:Esophageal manometry in oculopharyngeal dystrophy. 93 20

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

A 55-year-old woman noticed progressive hearing loss, earache and tinnitus in the left side in December 1988, followed by dysesthesia of the left face and hypogeusia. Those symptoms did not respond to the otological treatment of otitis media. In addition, the left eyelid ptosis, double vision and dysphagia appeared in May 1989. On admission, cranial nerves from III to XII were affected exclusively in the left side. The cell counts and the protein levels in the CSF were elevated. The MRI of the head showed hypertrophic dura mater at the left base of the skull covering the temporal lobe. No bone destruction was found in CT. The biopsy revealed the thickened dura mater with microabscess containing Langhans giant cells and lymphocytes. A diagnosis of pachymeningitis was made. After the therapy with antibiotics and then with prednisolone for several months, cranial nerve disturbances disappeared except hearing loss with decrease in cell counts and protein levels of the CSF. The follow-up MRI after one year showed decrease in thickness of dura mater. The MRI, particularly using enhancement with Gd-DTPA, was useful to make a diagnosis of hypertrophic pachymeningitis. It is suggested that the administration of antibiotics should be considered in the treatment of the pachymeningitis even if the causative agents were not identified.
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PMID:[A case of Garcin's syndrome caused by pachymeningitis secondary to otitis media, responsive to antibiotic therapy]. 176 59

One case of oculopharyngeal muscular dystrophy is reported, in a 75 year old white male with manifest family history of palpebral ptosis. He displayed bilateral ptosis and dysphagia. Diagnosis was carried out after clinical, electrical and bioptic procedures. Data obtained have been discussed with previous reports in the literature. It was necessary to perform a cricopharyngeal myotomy to overcome the malnutrition secondary to his swallowing problem.
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PMID:[Clinicopathological study of a case of oculopharyngeal muscular dystrophy]. 180 38

Botulinum A toxin was injected into the affected muscles in 20 patients with blepharospasm, 8 with torticollis and 12 with hemifacial spasm. In all cases blepharospasm and hemifacial spasm was abolished or markedly reduced. The only side effect was transient ptosis and diplopia. Patients with torticollis had a mild to moderate improvement of the dystonic posture and pain; dysphagia was the most troublesome side effect. Botulinum A toxin is an effective therapy in patients with focal dystonia and spasms.
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PMID:Botulinum A toxin injection in patients with blepharospasm, torticollis and hemifacial spasm. 208 84

Myasthenia gravis is an infrequent disease seen at the neonatal stage. Two main groups are identified: a) one with a genetic origin which can be secondary to pre- or postsynaptic defects and b) of an acquired origin, as transitory neonatal myasthenia seen in 10-15% of those children with myasthenic mothers. Few cases with a genetic origin have been reported in the literature; the most common symptoms being bilateral eyelid ptosis, ophtalmoparesis, easy fatigability, respiratory and feeding difficulties. This is a report of a genetic neonatal case of myasthenia gravis with dysphagia as the only clinical manifestation seen since the first days of the child's life, confirming the diagnosis using a repetitive supramaximal stimulation test and obtaining excellent results with pyridostigmine. We conclude that, although this a rare form of the disease, genetic neonatal myasthenia gravis should be considered in the differential diagnosis of newborns with difficulties to swallow. The repetitive supramaximal stimulation test is the diagnostic procedure of first choice to be used in the neonatal period.
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PMID:[Congenital myasthenia gravis. Presentation of a case with dysphagia as the only clinical manifestation]. 209 41


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