Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Background: X-linked dystonia-parkinsonism (XDP) is a debilitating disease endemic in the Philippines. Several oral medications as well as botulinum toxin A (BoNT-A) injection and deep brain stimulation (DBS) surgery appear to be the cornerstone of treatment in XDP, which are commonly used in combination. Being a chronic progressive disease, it is an economic burden to the patient and their families. Thus, we aim to perform a comparative analysis of the associated healthcare costs for the therapeutic options used in XDP. Methodology: A questionnaire assessing the healthcare costs in the management of XDP was designed and administered through an interview with the XDP patients or their caregivers. We analyzed the data and a bootstrap analysis was also done to obtain a more generalizable estimation of the costs. Results: A total of 110 gene-positive XDP patients were included in this study. The mean total annual cost per patient was USD 4,861.23 (USD:PHP 1:50, as of January 8, 2018). More than half of the patients (n = 61, 55.5%) received both oral medications and BoNT-A injection while 42 patients (38.2%) received oral medications alone. Only seven patients underwent DBS with a reported estimated cost of USD 50,931.43. The bootstrap analysis confirmed the estimates done in this study. Conclusion: The estimated costs in the management of XDP was shown to be 30 times the average annual health expenditure of an average Filipino. This calls for more government effort to provide comprehensive care for chronic and debilitating diseases such as XDP.
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PMID:Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia-Parkinsonism. 3114 58

Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to describe trends in the live birth prevalence of these disorders between 1998 and 2016, and to compare the results with previously published data. We retrospectively reviewed the records of all Estonian patients since 1998 with both molecularly and clinically diagnosed ImpDis. A prospective study was also conducted, in which all patients with clinical suspicion for an ImpDis were molecularly analyzed. Eighty-seven individuals with ImpDis were identified. Twenty-seven (31%) of them had Prader-Willi syndrome (PWS), 15 (17%) had Angelman syndrome (AS), 15 (17%) had Silver-Russell syndrome (SRS), 12 (14%) had Beckwith-Wiedemann syndrome (BWS), 10 (11%) had pseudo- or pseudopseudohypoparathyroidism, four had central precocious puberty, two had Temple syndrome, one had transient neonatal diabetes mellitus, and one had myoclonus-dystonia syndrome. One third of SRS and BWS cases fulfilled the diagnostic criteria for these disorders, but tested negative for genetic abnormalities. Seventy-six individuals were alive as of January 1, 2018, indicating the total prevalence of ImpDis in Estonia is 5.8/100,000 (95% CI 4.6/100,000-7.2/100,000). The minimum live birth prevalence of all ImpDis in Estonia in 2004-2016 was 1/3,462, PWS 1/13,599, AS 1/27,198, BWS 1/21,154, SRS 1/15,866, and PHP/PPHP 1/27,198. Our results are only partially consistent with previously published data. The worldwide prevalence of SRS and GNAS-gene-related ImpDis is likely underestimated and may be at least three times higher than expected.
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PMID:A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 3118 45