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 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

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
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PMID:[Centronuclear myopathy with autosomal dominant inheritance(author's transl)]. 115 Feb 40

We report a case of mitochondrial myopathy discovered in a 55-year old woman who was being investigated for the cause of her asthenia. Physical examination showed ptosis of the upper eyelid and proximal muscle deficit. Histological examination of a muscle biopsy disclosed rare fibres with mitochondrial aggregates. Biochemical exploration of muscle tissue revealed a double enzyme deficit involving complexes I and IV of the respiratory chain. Clinical improvement was obtained after the patient was put on coenzyme Q10. We conclude that a diagnosis of mitochondrial myopathy must be considered in patients, including middle-aged adults, presenting with muscular asthenia.
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PMID:[Ptosis and asthenia manifesting a mitochondrial myopathy]. 134 37

Weakness of the external eye muscles was believed to be of genetic origin in 94 of 97 patients studied and was familial in 73 patients. Thirty patients had congenital ptosis alone or with weakness of other ocular muscles. The lack of progression and high incidence of other congenital anomalies suggested that congenital ptosis had in most instances a development etiology. Neurogenic congenital ptosis was documented in one instance and was suspected in another patient. The most common causes of progressive ophthalmaplegia with onset after birth was myotonic dystrophy and ocular muscle dystrophy. On clinical and genetic grounds, ptosis associated with retinitis pigmentosa was considered as a distinct disease and there was no conclusive evidence that ocular muscle dystrophy and oculopharyneal dystrophy were separate diseases. The relatively high incidence of familial myasthenia gravis was probably due to the selection of the patients. Two pairs of sibs with "chondrodystrophic myotonia" were included in the study. Progressive external ophthalmoplegia with onset after birth was neurogenic in three instanced. It accompanied motor neuron disease, Kugelberg-Welander disease and an undertermined disease affecting the central and peripheral nervous system, each in one patient.
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PMID:Hereditary ptosis. 517 28

In order to determine the frequency of posterior compartment pathology in females with anterior and middle compartment pelvic floor weakness, 10 women with urinary stress incontinence and 10 women with uterovaginal prolapse underwent detailed review of their history and clinical findings, and were studied by simultaneous evacuation proctography and cystography. Radiological findings were correlated with anorectal physiological testing. Considerable symptom overlap and occult defaecatory symptoms were revealed. The combined radiological examination visualized cystocoele, enterocoele, rectocoele and rectal intussusception, and diagnosed higher degree prolapse than did clinical examination. There was no significant difference in the frequency of any of these findings with respect to either group, nor was there any significant difference in proctographic measurements. Additionally, there was little significant difference in physiological measurements between the groups, and when cystoproctographic features were compared to the results of anorectal physiological testing, there was little correlation between results obtained from either set of tests. In conclusion, modification of standard proctographic techniques enhances the diagnostic potential of the study, allowing accurate demonstration of the site and degree of pelvic floor weakness in women. Weakness often involves all pelvic compartments, despite differing clinical presentations, suggesting a global pathology. Embarrassing symptoms may not be volunteered, and should be sought so that imaging is appropriate.
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PMID:Dynamic cystoproctography and physiological testing in women with urinary stress incontinence and urogenital prolapse. 893 21

We have retrospectively analysed the records of patients diagnosed as having myasthenia gravis and followed up in our department from February 1973 to March 1995. The main clinical findings were ptosis, diplopia, dysphagia, dysphonia or dysarthria, mastigatory impairment, dyspnea, asthenia, weakness of the cervical muscles and of the extremities, as well as findings of the physical and neurological examination. Based on the information collected, the patients were classified clinically according the modified Osserman-Gerkins scale, but considering the non-dynamic aspects of that scale, we used the modified functional scale of Niakan and classified the patients clinically as follows: remission, controlled, stable, partially controlled, poorly controlled, no response. We collected 153 patients, 104 (68.0%) females and 49 (32.0%) males producing a female/male ratio of 2.2:1. The duration of the disease varied from seven days to 27 years, mean 6.26 years (+/- 5.44). Age at the first symptoms varied between 24 hours to 80 years, mean of 32.13 years (+/- 19.48). We had 30 patients ranging from 0 to 15 years of age, 91 patients were observed between 15 and 50 years and 32 patients after the age of 50 years. Above the age of 60 years, the disease aflicts males more than females with a ratio of 1.5:1. The acquired autoimmune form with generalized weakness was the most frequent presentation. However, ocular muscle weakness with ptosis and diplopia were the most common clinical presentation in our series.
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PMID:[Myasthenia gravis. Clinical evaluation of 153 patients]. 1045 Mar 54

The pelvic floor comprises three compartments: anterior, posterior and middle. Weakness of the pelvic floor can lead to prolapse, urinary or faecal incontinence. This article deals with the defects in the anterior compartment which lead to urological consequences. The anatomy and management of stress incontinence are discussed.
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PMID:Weakness of the pelvic floor: urological consequences. 1085 3

An 81-year-old man complained with increasing dyspnoea and asthenia few months after a successful double mitral and tricuspid valvuloplasty intervention. The echocardiogram revealed a partial detachment of the mitral annuloplasty ring due to dehiscence determining a severe regurgitation. Curiously, at Color-Doppler analysis of mitral inflow, the prolapse of the detached ring produced a fascinating circular line inside the regurgitation signal, mimicking the shape of a gemstone ring. We described a case of a relatively uncommon cause of late mitral valvuloplasty failure characterized by a really unusual echocardiographic finding.
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PMID:Late mitral annuloplasty failure: the loss of the ring. 1641 26

Myasthenia gravis (MG), a chronic disease characterized by unusual fatigability of voluntary muscles, was first described by Willis. Three forms of MG are seen in childhood: juvenile MG, congenital MG and transient neonatal MG. Aside from age of onset, there is no difference in terms of pathology and pathogenesis between juvenile MG and adult-onset MG. Juvenile MG, like adult MG, appears to result from T-cell-initiated antibodies directed against end-plate Ach receptor protein. The onset of juvenile myasthenia can be insidious, although at times it is rapid, often a sequel to an acute febrile illness. Generally, muscles innervated by the cranial nerves are affected first, with bilateral ptosis being the most common presenting sign. Generalized weakness and dysphagia are less common presenting symptoms, while the clinical course is highly variable.
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PMID:Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis. 1804 13

Myasthenia gravis is a disease in which antibodies directed at nicotinic acetylcholine receptors are produced, leading to a deficiency of acetylcholine receptors at the neuromuscular junction. This results in impairment of muscular excitation, which appears clinically as fatigable muscle weakness. Weakness of the extraocular muscles occurs in nearly 90% of all myasthenics at disease onset, with ptosis being the most common presenting feature. Myasthenia gravis affecting one or a combination of the extraocular muscles without ptosis is less common; however, cases such as bilateral internuclear ophthalmoplegia without ptosis have been described in the literature. The authors present a case in which decompensating esophoria was the presenting feature of myasthenia gravis.
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PMID:Decompensating esophoria as the presenting feature of myasthenia gravis. 1939 93


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