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排序方式: 共有1869条查询结果,搜索用时 15 毫秒
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Hui Xing Lau Sarah El-Heis Qai Ven Yap Yiong Huak Chan Cheryl Pei Ting Tan Neerja Karnani Karen Mei Ling Tan Elizabeth Huiwen Tham Anne Eng Neo Goh Oon Hoe Teoh Kok Hian Tan Johan Gunnar Eriksson Yap Seng Chong Mary Foong-Fong Chong Hugo Van Bever Bee Wah Lee Lynette P. Shek Keith M. Godfrey Evelyn Xiu Ling Loo 《Clinical and experimental allergy》2021,51(10):1346-1360
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Lynette G. Sadleir Guillem de Valles-Ibáñez Chontelle King Matthew Coleman Stuart Mossman Sarah Paterson John Nguyen Samuel F. Berkovic Saul Mullen Melanie Bahlo Michael S. Hildebrand Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2020,61(4):e23-e29
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes. 相似文献
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Ali R. Cohen Thomas J.E. Clark Lynette M. Renner Pamela C. Carter Erin M. Shriver 《Canadian journal of ophthalmology. Journal canadien d'ophtalmologie》2019,54(3):355-358
ObjectiveDetermine the prevalence of intimate partner violence (IPV) as a mechanism of traumatic ocular injury in women, typical injury patterns, and the clinical course of affected patients. Encourage IPV screening and safety assessment in patients presenting with characteristic ocular trauma.MethodsMedical records of 211 female patients with traumatic ocular injuries evaluated at the University of Iowa Hospitals and Clinics between January 1995 and January 2015 were reviewed to determine the rate of IPV as a mechanism of ocular trauma. Twenty-one patients were excluded due to no documented trauma.ResultsLeading causes of traumatic ocular injuries in the 190 female patients included were accidental trauma with an inanimate object (n = 70/190, 36.8%), falls (n = 52/190, 27.4%), motor vehicle collisions (n = 21/190, 11.1%), and assault (n = 16/190, 8.4%). In 2.1% of cases (n = 4/190), no mechanism of traumatic injury was documented. Assault was the fourth leading mechanism of injury accounting for 8.4% of cases (n = 16/190), with IPV accounting for more than one third of cases with a documented perpetrator (n = 5/13). No perpetrator was documented in 18.8% (n = 3/16). All 5 patients with IPV-related injuries sustained scleral laceration or rupture; 4 out of 5 patients had no light perception vision and ultimately required enucleation.ConclusionIPV is an important mechanism of traumatic ocular injury. IPV-associated injuries tend to be severe in nature, as demonstrated by the high rate of globe laceration or rupture and subsequent enucleation in the study population. By appropriate screening and referral, ophthalmologists have an opportunity to redirect a potentially devastating course. 相似文献
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Evelyn Xiu Ling Loo Hui Xing Lau Noor Hidayatul Aini Suaini Lydia Su Yin Wong Anne Eng Neo Goh Oon Hoe Teoh Hugo PS Van Bever Lynette Pei-chi Shek Bee Wah Lee Kok Hian Tan Keith M. Godfrey Johan Gunnar Eriksson Yap Seng Chong Elizabeth Huiwen Tham 《Pediatric allergy and immunology》2021,32(5):1096-1099
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Osborn Raphaella Dorstyn Diana Roberts Lynette Kneebone Ian 《Journal of developmental and physical disabilities》2021,33(3):373-389
Journal of Developmental and Physical Disabilities - Mindfulness offers promise as a therapy approach for parents of children with developmental disabilities (DD), however its effectiveness in... 相似文献
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Arginase and α‐smooth muscle actin induction after hyperoxic exposure in a mouse model of bronchopulmonary dysplasia 下载免费PDF全文
Jennifer K Trittmann Markus Velten Kathryn M Heyob Hanadi Almazroue Yi Jin Leif D Nelin Lynette K Rogers 《Clinical and experimental pharmacology & physiology》2018,45(6):556-562
The L‐arginine/NO pathway is an important regulator of pulmonary hypertension, the leading cause of mortality in patients with the chronic lung disease of prematurity, bronchopulmonary dysplasia. L‐arginine can be metabolized by NO synthase (NOS) to form L‐citrulline and NO, a potent vasodilator. Alternatively, L‐arginine can be metabolized by arginase to form urea and L‐ornithine, a precursor to collagen and proline formation important in vascular remodelling. In the current study, we hypothesized that C3H/HeN mice exposed to prolonged hyperoxia would have increased arginase expression and pulmonary vascular wall cell proliferation. C3H/HeN mice were exposed to 14 days of 85% O2 or room air and lung homogenates analyzed by western blot for protein levels of arginase I, arginase II, endothelial NOS (eNOS), ornithine decarboxylase (ODC), ornithine aminotransferase (OAT), and α‐smooth muscle actin (α‐SMA). Hyperoxia did not change arginase I or eNOS protein levels. However, arginase II protein levels were 15‐fold greater after hyperoxia exposure than in lungs exposed to room air. Greater protein levels of ODC and OAT were found in lungs following hyperoxic exposure than in room air animals. α‐SMA protein levels were found to be 7‐fold greater in the hyperoxia exposed lungs than in room air lungs. In the hyperoxia exposed lungs there was evidence of greater pulmonary vascular wall cell proliferation by α‐SMA immunohistochemistry than in room air lungs. Taken together, these data are consistent with a more proliferative vascular phenotype, and may explain the propensity of patients with bronchopulmonary dysplasia to develop pulmonary hypertension. 相似文献
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