Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

How the concept of the tuberous sclerosis complex (TSC) has developed over a period of time spanning 160 years has come form simple clinical observations, pathological studies and technological advances of imaging methods. It all began with PFO Rayer's color plate of a drawing of a patient who apparently had facial angiofibroma, published in the year 1835, and continued with von Recklinghausen's report of cardiac myomas and cerebral sclerosis in a newborn who had died minutes after birth. The seminal contribution was provided by D.M. Bourneville who, in 1880, reported and named as tuberous sclerosis the neuropathological findings in a young patient with seizures, hemiplegia, and mental subnormality who also had renal tumors. We now know that TSC is a hamartomatosis, and thanks to studies of recent years using positional cloning and DNA analysis, we are beginning to understand the biological mechanisms of these disorders which include NF1, NF2 and von Hippel-Lindau disease. Unique to TSC is that it is both phenotypically and genotypically heterogeneous. One of two suspected genes found in chromosome 16 by positional cloning has been cloned (TSC2). Another one that was discovered earlier in chromosome 9 (TSC1) has not yet been characterized. The gene product from TSC2 has been named tuberin.
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PMID:History of the tuberous sclerosis complex. 888 73

Although it is important for patients with neurofibromatosis type 2 (NF2) to live independently and maintain good quality of life (QOL), no study has examined the social independence status in this patient population. This study aimed to examine the state of social independence and its contributing factors in patients with NF2 using data from a national registry in Japan during the past decade. A database provided by the Ministry of Health, Labour and Welfare of Japan that contained information about all patients with newly submitted claims for medical expense subsidies for NF2 in Japan between fiscal years 2004 and 2013 was analyzed. Individuals aged 6 to 64 years were deemed eligible for the present study. Categories of "employed," "studying," and "housekeeping" were classified as "socially independent." Multivariate logistic regression analysis was performed to examine associations between demographic variables, neurological features, and social independence status. Of 334 participants, 79% were socially independent at the time of registration. Socially dependent participants had more neurological features than those who were socially independent, whereas sex, age, and family history had no significant associations with social independence status. Multivariate logistic regression analysis revealed that participants with bilateral hearing loss, unilateral hearing loss, blindness, hemiplegia, or seizures had significantly higher odd ratios for being socially dependent compared to participants without these features. Our findings, which suggest that these neurological features could restrict social independence, could contribute to the maintenance of better social functioning and QOL in patients with NF2.
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PMID:Social Independence of Patients with Neurofibromatosis Type 2 in Japan: Analysis of a National Registry of Patients Receiving Medical Expense Subsidies, 2004-2013. 3280 Dec 76