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)

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21 leads to qter had segregated from a maternal translocation t(6;16)(q15;q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221 leads to qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221 leads to qter.
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PMID:Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients. 75 83

Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.
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PMID:Congenital myasthenia gravis: clinical and HLA studies in two brothers. 101 Oct 24

Clinical, immunological and genetic parameters were studied in 73 Jamaican patients with myasthenia gravis (MG). The reported bimodal clinical distribution of females with early onset of disease and males with late onset was not observed. The female to male ratio was 2:1. The most frequent manifestations of disease were ptosis (84.9%), general muscle weakness (68.5%), bulbar symptoms (41.1%) and diplopia (32.9%). Unusual presenting features such as unilateral ptosis, recurrent chest infection and stumbling while walking resulted in diagnosis being missed in 5.8% of cases. The sensitivity of radioimmunoassay in detecting acetylcholine receptor antibody (AchR-Ab) in sera from a subgroup of 35 MG patients was 71.4% whilst that of the ELISA was only 14.2%. There was no correlation between concentration of AchR-Ab and severity of disease. Similarly, there was no association between HLA-type, thymic pathology and course of disease. HLTV-I could not be implicated in the pathogenesis of this disease. There was a paucity of other associated autoimmune conditions among MG patients. Thymectomy was an important therapeutic modality in that improvement was observed in 22 cases and remission in 11.
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PMID:Myasthenia gravis in Jamaica. Clinical, immunological and genetic studies. 178 95

The authors present results of investigation of antigens of the HLA system in primary mitral valvular prolapse. The investigated group of patients was formed by 23 not related patients with primary mitral valvular prolapse. (15 women, 8 men, aged 18-55 years) where HLA antigens of loci A, B and C were assessed. They found a significantly increased frequency of antigen HLA-B35 in the patients (56.52%), as compared with the population (18.33%, x2 = 18.48, Pcorr less than 0.01). The measure of the observed relationship is expressed by the relative risk value--RR = 5.81. The difference in the frequency of the other HLA antigens was not statistically significant.
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PMID:[HLA antigens and primary prolapse of the mitral valve]. 280 Mar 69

The prevalence of mitral valve prolapse was investigated in 60 patients with Graves' disease (42 with ophthalmopathy) and in 20 patients with toxic nodular goitre. 2410 patients from the echocardiography laboratory served as controls. Standard M-mode, Doppler and two-dimensional echocardiography were performed. Mitral valve prolapse was defined as a systolic buckling greater than or equal to 3 mm. In patients with thyroid disease HLA antigens were determined. Patients with Graves' disease showed a significantly higher incidence of mitral valve prolapse (36/60, 60%) compared to the group with toxic nodular goitre (2/20, 10%) and to controls (238/2410, 9,9%) (P less than 0.0001). 16 of 36 patients had a prolapse of the anterior, in 3 of 36 the posterior leaflet was involved and 17 of 36 had both. Mean systolic buckling was 4.3 +/- 1.5 mm. 28 of 42 patients with ophthalmopathy (67%) showed a mitral valve prolapse. 20 of 60 patients (33.3%) with Graves' disease but none in the goitre group showed a thickened myxomatous valve (P less than 0.001). Thyroid function did not influence the incidence and intensity of the prolapse. The HLA phenotypes B8 were seen in 22 of 36 and DR3 in 24 of 36 patients with mitral valve prolapse. Since thyroid function was comparable in both groups an involvement of the mitral valve in an autoimmune process affecting several organs can be considered probable.
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PMID:[Basedow's disease and mitral valve prolapse]. 349 29

We are reporting the unique coexistence of two distinct neuromuscular diseases, myotonic dystrophy and the juvenile form of myasthenia gravis, occurring in one family. A 16-month-old previously healthy female presented with a two month history of bilateral varying drooping of both eyelids and bilateral external ophthalmoparesis. The acetylcholine receptor antibodies were elevated, and there was a dramatic response to edrophonium confirming the clinical impression of myasthenia gravis. Spontaneous remission of the ptosis was noted after six months with no specific treatment. Many other family members were examined; none of them had clinical or laboratory evidence of myasthenia gravis. The clinical examination of the mother and the maternal grandmother, neither of whom had any complaints, resulted in a definite diagnosis of myotonic dystrophy. The proband's father and a 3-year-old sister were examined and found to be normal. We studied the HLA antigens of all of the available family members; none were found to have the HLA antigens most commonly associated with myasthenia gravis. Secretor gene studies were not helpful in providing additional genetic identification. The question generated by the coexistence of these two uncommon disorders in one family is if there is a genetic or other relationship between them or if this was merely a coincidental occurrence. At this point in time the question remains unanswered and must await demonstration of additional similar circumstances.
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PMID:The coexistence of myasthenia gravis and myotonic dystrophy in one family. 356 10

Twenty-five patients with psoriatic arthritis were studied by echocardiography in view of the known association of related seronegative arthropathies with aortic-valve lesions. The study group included 15 men and ten women with a mean age of 46.5 +/- 14.6 years. Twenty-two patients suffered from peripheral disease whereas three also had axial involvement. No aortic-valve lesions were found; however, mitral-valve prolapse (MVP) was detected in 14 patients (56%), nine men and five women. The mean age, mean duration of psoriasis, and mean duration of arthritis were similar in patients with and without MVP. HLA tissue typing, which was done in nine patients with MVP, revealed only one patient with HLA-B27. There was no predominance of any of the typical antigens found in psoriasis (HLA-B13, HLA-Cw6). In a control group of 32 psoriatic patients without arthritis, only two (6.4%) suffered from MVP.
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PMID:Mitral valve prolapse in psoriatic arthritis. 371 35

A clinical study of 50 Southern Chinese myasthenic children observed for periods of two to 18 years (six years on average) revealed manifestations different from those of caucasian patients. Onset was early, at an average of 4.8 years. 82 per cent had ocular myasthenia. Ophthalmoplegia followed ptosis between three months and 10 years later. Additional facial and isolated limb-muscle fatigability developed in only 6 per cent within three months to 3 1/2 years. Only 12 per cent developed generalized myasthenia. Although extension from ocular to the generalized form did not occur later than 20 months after onset, a deterioration in ocular symptoms, without extension into generalized myasthenia, occurred in nine of 18 children during adolescence. Ptosis and generalized myasthenia responded better to anticholinesterase and/or prednisone. Ophthalmoplegia was difficult to treat. The natural clinical course was benign. Spontaneous remission occurred in 62 per cent of cases, but 54.8 per cent of these relapsed, all confined to ocular muscles. Although there was no familial occurrence of myasthenia gravis, an association was found between myasthenia and thyroid disorders in some patients and their relatives. The association with HLA BW46 antigen was striking. Acetylcholine receptor antibodies were absent in the majority, but mildly elevated titres were found in three of five patients whose ocular symptoms deteriorated during adolescence, without extension into generalized myasthenia.
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PMID:Myasthenia gravis in Chinese children. 651 56

The clinical features and genetic background of 18 patients with rheumatoid arthritis were investigated following the development of penicillamine-induced myasthenia (PIM). The initial myasthenia symptoms in all patients consisted of variable diplopia and/or ptosis with progression to a more generalized involvement in 7 of them. No clinical, humoral, or genetic factor was determined which would allow identification of individuals developing generalized as opposed to ocular myasthenia. Withdrawal of penicillamine was associated over 4-60 weeks with a slow resolution of symptoms, facilitated in 12 patients by the use of anticholinesterase agents. In 2 patients a persistent partial unilateral ptosis remains after 15 and 25 months, while in a further patient diplopia is present 42 months after resolution of the other myasthenic symptoms. The patients with PIM when compared with a healthy 'control' population had a significant increase in HLA Dr1 (p corr less than 0.005) and an absence of HLA Dr 3. A genetic susceptibility to the development of PIM, distinct from that observed in myasthenia gravis of spontaneous onset, is suggested by this abnormal distribution of HLA Dr antigens.
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PMID:Penicillamine-induced myasthenia in rheumatoid arthritis: its clinical and genetic features. 660 18

A 37-year-old Japanese man with chronic myeloid leukemia (CML) developed myasthenia gravis 29 months after bone marrow transplantation (BMT) from an HLA one locus-mismatched brother. Proximal muscle weakness and bilateral ptosis occurred along with the exacerbation of chronic GVHD shortly after sudden cessation of cyclosporine (CYA) and prednisolone. The diagnosis of myasthenia gravis was made based on clinical symptoms and elevation of an anti-acetylcholine receptor antibody titer and all symptoms related to myasthenia gravis promptly diminished with the start of treatment for chronic GVHD. In most previously reported cases, the underlying disease was aplastic anemia (6 of 7 cases) and donors were of the opposite sex (6 of 7 cases). The haplotypes HLA B7 (3 of 5 cases), B35 (3 of 5 cases), and DR2 (3 of 3 cases) were common. All cases suffered from chronic GVHD. The present case had only chronic GVHD and HLA B7 as a background for myasthenia gravis after BMT. The abrupt cessation of immunosuppressive therapy may also be related to the development of myasthenia gravis after BMT.
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PMID:Myasthenia gravis after allogeneic bone marrow transplantation. 795 Nov 5


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