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51.
The natural history of sex-linked recessive dystonia parkinsonism of Panay,Philippines (XDP) 总被引:1,自引:0,他引:1
Lee LV Maranon E Demaisip C Peralta O Borres-Icasiano R Arancillo J Rivera C Munoz E Tan K Reyes MT 《Parkinsonism & related disorders》2002,9(1):29-38
Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex-linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalization. The movement disorder is characterized by dystonic movements usually starting in the third or fourth decade, focal at the onset, spreading to generalization within 2-5 years. The dystonia co-exist or is replaced by parkinsonism usually beyond the 10th year of illness. As of June 2001, 376 XDP cases have been registered. One hundred and fifteen cases have died. The prevalence of XDP in the island of Panay is 5.24 per 100,000; 0.34/100,000 in the general population. The prevalence varies in the different provinces; it is highest in Capiz at 18.88/100,000, 7.46/100,000 in Aklan, 1.28 in Iloilo and 0.83 in Antique. The 376 cases are from 188 families and 92% of cases have positive family history. Ninety-nine percent of the cases are males. The mean age of onset is 39.48 years. Duration of illness is 12.95 years. Ninety-four percent of patients initially manifest with dystonic symptoms, while only 6% present with Parkinsonian traits. Among those presenting with dystonia, the initial presentation is in the lower extremities in 33%, craniofacial in 27%, cervical and shoulder in 25%, upper extremities in 14%, and trunk in 1%. Regardless of the site of onset, the dystonia spreads in 98% and generalizes within 5 years in 84%. Neuroimaging (magnetic resonance imaging, MRI) was done in 16 patients. In the patients who have just manifested the disease usually when dystonia predominates and parkinsonism is absent. MRI showed minimal atrophy of the caudate and putamen or subtle putaminal signal abnormality. In the late course, where Parkinsonism predominates, severe atrophy of the caudate and putamen as well as marked increase in signal abnormality are seen. There are six autopsied cases of XDP. Neuropathology revealed marked atrophy of the caudate and putamen mostly in the cases with longstanding illness. The sex-linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1. Nemeth's group has mapped the XDP gene to a <350 kb locus in the DXS 7117-DX 559 region. To date, no treatment has been proven consistently effective. 相似文献
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Iglesias Bonilla P Lapetra Peralta J 《Atencion primaria / Sociedad Espa?ola de Medicina de Familia y Comunitaria》2002,29(3):197; author reply 197-197; author reply 198
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Dávila Torres RR Parrilla AM Gorrín Peralta J 《Puerto Rico health sciences journal》2000,19(3):263-267
An instrument was designed and validated with the purpose of identifying attitudes towards breastfeeding among nursing professionals. The preliminary instrument contained 19 items which were submitted to experts in the field of human lactation and breastfeeding for content validity. The construct validity was measured through factor analysis and matrix correlation. Four factors were identified in the analysis. Overall internal consistency of the instrument was 0.83, with a subscale's range fluctuating from 0.64 to 0.73. The instrument is valid and reliable, and it is the first of its nature in Puerto Rico. 相似文献
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Peralta R Ryan DP Iribrane A Fitzsimons MG 《The Journal of extra-corporeal technology》2005,37(1):71-74
Near drowning is a common event among otherwise healthy young people. The development of ARDS in the setting may significantly increase mortality. The traditional means of ventilation may lead to barotrauma. Extracorporeal membrane oxygenation (ECMO) is an effective means to improve oxygenation and remove carbon dioxide, while allowing the lungs to recover from the acute insult. It may be especially successful in those victims with single organ injury. We report the use of ECMO in a young adult with ARDS and pneumonia after near drowning. 相似文献
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Soluble p-cadherin found in human semen 总被引:2,自引:0,他引:2
Cadherins constitute a family of calcium-dependent cell-cell adhesion molecules. P (placental)-cadherin is a 118-kd protein expressed by basal cells in epithelial tissues. P-cadherin also has been described as a soluble protein in certain biological fluids, including human serum and breast milk. Here, we report the presence of an 80-kD fragment of P-cadherin in human semen. No significant differences were found in semen samples from fertile and nonfertile patients. Our results add evidence to previous data indicating that soluble fragments of P-cadherin have a widespread distribution in bodily fluids and suggest that soluble P-cadherin might have functions other than basal epithelial cell-cell adhesion. 相似文献
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