Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA phenotypes were studied in 82 Chinese patients with myasthenia gravis (MG) and 202 healthy controls, using standard microcytotoxicity assay. The patients showed significant increase in HLA-Bw46 (46.3% vs 17.3%, chi 2 = 25.7, p less than 0.001), HLA-DR9 (56.1% vs 15%, chi 2 = 35.7, p less than 0.001) and HLA-DQw3 (89% vs 63.6%, chi 2 = 15.9, p less than 0.001). The HLA-DR3 was decreased (2.4% vs 32.7%, chi 2 = 27.0, p less than 0.001). Both HLA-Bw46 and -DR9 were increased in all subgroups except the over 40 at age of onset group. In thymectomised patients, no association with HLA antigen was found in the thymoma group, whereas both involuted and hyperplasic thymus groups had HLA DR9 association and only the hyperplasic thymus group showed HLA Bw46 association. No association with HLA antigens was noted in patients with low antibody titer, however, patients with antibody titers between 0.2 to 2 n mole/1, had an association with HLA Bw46 and DR9. The HLA DQw3 was associated with the group of female MG patients, age onset below 10 and with ocular myasthenia. Finally, the HLA A2, Bw46 and DR9 combination was also significantly increased in patients [24.3% (20/82) vs 7.4% (8/107), chi 2 = 10.5, p less than 0.001], especially in the subgroup of male MG, age onset below 10 and with ocular myasthenia.
 ...
PMID:Association of HLA antigens with myasthenia gravis in Chinese on Taiwan. 239 79

The determination of acetylcholine receptor antibody (AChR Ab) titer by an enzyme-linked immunosorbent assay (ELISA) in patients with myasthenia gravis was introduced. The optimal conditions were determined by chequerboard determination. The specificity was confirmed by inhibition tests. The sensitivity is 9 p mole. The comparison of AChR Ab titers among 49 myasthenic patients, 19 non-myasthenic neurological patients and 20 healthy blood donors has shown that it is a highly sensitive, specific, reproducible, rapid, simple and inexpensive method for determining AChR Ab and that it is highly valuable for the diagnosis of myasthenia gravis.
 ...
PMID:Acetylcholine receptor antibody in patients with myasthenia gravis. 380 Oct 96

Two patients having a localized plaque of alopecia on the scalp, and one with a systematized unilateral epithelial nevus exhibited a histologically distinctive form of follicular hamartoma. In the affected areas individual hair follicles were replaced, or were associated with solid strands and branching cords of undifferentiated basaloid cells, filled in between by fibrous stroma resembling either a miniature premalignant fibroepithelial tumor of Pinkus, a small trichoepithelioma, or a basal cell epithelioma. The relation between these 3 patients and cases reported as linear unilateral basal cell nevus with comedones and generalized hair follicle hamartoma associated with myasthenia gravis is discussed.
 ...
PMID:Basaloid follicular hamartoma: three cases with localized and systematized unilateral lesions. 397 86

Acetylcholine receptors in skeletal muscle and fish electric organs are intrinsic membrane proteins whose function is to bind acetylcholine released from the nerve ending and trigger the opening of a cation-specific channel in the postsynaptic membrane, thereby facilitating transmission of the nerve signal to the muscle. Investigations from several laboratories indicate that acetylcholine receptors from fish electric organs are composed of four homologous glycoprotein subunits of apparent relative molecular masses (Mr) approximating 40, 50, 57 and 64 x 10(3) designated, respectively, alpha, beta, gamma and delta. These subunits are present in receptor monomers in the mole ratio alpha 2 beta gamma delta. Receptor purified from skeletal muscle appears to have a similar structure. The alpha subunits are unknown. It is known that the cation channel regulated by acetylcholine binding is located within the receptor monomer. Experimental autoimmune myasthenia gravis (EAMG) is induced by immunizing animals with purified receptor. The mechanisms by which neuromuscular transmission is impaired in this model are very similar to those in myasthenia gravis (MG). Although there are many immunogenic determinants on receptors, and EAMG can be induced in rats by any of the denatured subunits, there is a main immunogenic region at which most of the antibodies to native receptors are directed. The main immunogenic region is a conformationally dependent part of the external surface of alpha subunits other than the acetylcholine-binding site or the attached carbohydrate. Antisera from MG patients are also directed primarily at this region. No correlation was detected between the specificities of antibodies to receptor in patients' sera and the severity of their weakness.
 ...
PMID:Structure of the acetylcholine receptor and specificities of antibodies to it in myasthenia gravis. 692 7

We reviewed the causes of "loss of skin color" in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus. One forth of the patients with generalized vitiligo had complications, while no complications were found in the patients with segmental vitiligo. Among the complications, autoimmune diseases dominated 43% (10 of 23 cases). Autoimmune thyroid diseases explained for the most of the complicated autoimmune diseases and were associated with 7.4% of the patients with generalized vitiligo. Minor autoimmune complications include myasthenia gravis, Sjogren syndrome and autoimmune nephritis. Reflecting the condition that our clinic is located in a university hospital, vitiligo patients with end-stage non-melanoma cancers of internal organs accounted for 8.4% of the patients of generalized vitiligo.
 ...
PMID:Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital. 2004 88

While being treated with azathioprine and dexamethasone, a 21-year old man with myasthenia gravis suddenly developed rapidly progressing brown macules, predominantly on the trunk, palms and soles. We made a diagnosis of eruptive melanocytic nevi (EMN). This rare entity can appear after blistering skin diseases, in immunocompromised patients, and, in particular, during immunosuppressive therapy for autoimmune diseases. Since therapeutic regimens including azathioprine have been frequently reported in association with EMN, we recommended to our patient a treatment switch to mycophenolic acid to prevent the development of more nevi.
 ...
PMID:[Eruptive melanocytic nevi during azathioprine therapy in myasthenia gravis]. 2300 7