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)

We herein report a patient with myasthenia gravis (MG) and atopic dermatitis (AD). Heretofore, there have been no reports of patients with MG and AD. Nine years ago, a 25-year-old man noted muscle weakness of upper and lower extremities on physical labor, and the muscle weakness was gradually exacerbated. Two years ago, he noted acute skin eczema with itching on his hands and feet. Neurological examination revealed mild left ptosis, facial muscle weakness and proximal muscle weakness of upper and lower extremities, but no diplopia, ophthalmoplegia or dysphagia. Although anti-nicotinic acetylcholine receptor antibody was negative, edrophonium test was positive and 54% waning in the thenar muscles was observed on Harvey-Masland test. Thus, he was diagnosed as limb-girdle type MG. IgE level in his serum elevated (1,818 U/ml). After thymectomy, the muscle weakness markedly improved as well as waning in the thenar muscles (11%). Simultaneously, AD markedly improved and serum IgE level was decreased (1,245 U/ml). Thus, MG and AD in this case may be derived from some common immunological aberrancy in the thymus.
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PMID:[A patient with limb-girdle type myasthenia gravis and atopic dermatitis, both of which improved after thymectomy]. 1096 63

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype.
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PMID:Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. 2262 49

A 23 year female presented with bilateral recurrent swelling of eyelids along with ptosis and proptosis for last 3 years. She also had swellings over the right cheek, parotid gland, and retro auricular area along with regional lymphadenopathy. Systemic laboratory workup revealed raised serum IgE and a high peripheral eosinophil count. Computed tomography and magnetic resonance imaging showed bilateral enlargement of extraocular muscles, lacrimal glands, and ipsilateral parotid gland. Excision biopsy of the retro-auricular lymph node was suggestive of Kimura's disease (KD). The patient responded well to systemic corticosteroid. KD rarely affects orbit, but it should be included in the differential diagnosis of inflammatory diseases of the orbit. To our knowledge, this is the first reported case of KD from India involving the orbit, lacrimal gland, extraocular muscles, parotid gland and buccal area.
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PMID:Kimura's disease involving bilateral lacrimal glands and extraocular muscles along with ipsilateral face: A unique case report. 3175 77