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21.
Amy L. Schneider Candace T. Myers Alison M. Muir Sophie Calvert Alice Basinger M. Scott Perry Lance Rodan Katherine L. Helbig Chelsea Chambers Kathleen M. Gorman Mary D. King Sandra Donkervoort Ariane Soldatos Carsten G. Bnnemann Nino Spataro Elisabeth Gabau Montserrat Arellano Gerarda Cappuccio Nicola Brunetti‐Pierri Elsa Rossignol Fadi F. Hamdan Jacques L. Michaud Christopher Balak Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2021,62(1):e13-e21
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders. 相似文献
22.
Kara R. Melmed Elizabeth Carroll Aaron S. Lord Amelia K. Boehme Koto Ishida Cen Zhang Jose L. Torres Shadi Yaghi Barry M. Czeisler Jennifer A. Frontera Ariane Lewis 《Journal of stroke and cerebrovascular diseases》2021,30(8):105870
ObjectivesSystemic inflammatory response syndrome (SIRS) and hematoma expansion are independently associated with worse outcomes after intracerebral hemorrhage (ICH), but the relationship between SIRS and hematoma expansion remains unclear.Materials and methodsWe performed a retrospective review of patients admitted to our hospital from 2013 to 2020 with primary spontaneous ICH with at least two head CTs within the first 24 hours. The relationship between SIRS and hematoma expansion, defined as ≥6 mL or ≥33% growth between the first and second scan, was assessed using univariable and multivariable regression analysis. We assessed the relationship of hematoma expansion and SIRS on discharge mRS using mediation analysis.ResultsOf 149 patients with ICH, 83 (56%; mean age 67±16; 41% female) met inclusion criteria. Of those, 44 (53%) had SIRS. Admission systolic blood pressure (SBP), temperature, antiplatelet use, platelet count, initial hematoma volume and rates of infection did not differ between groups (all p>0.05). Hematoma expansion occurred in 15/83 (18%) patients, 12 (80%) of whom also had SIRS. SIRS was significantly associated with hematoma expansion (OR 4.5, 95% CI 1.16 - 17.39, p= 0.02) on univariable analysis. The association remained statistically significant after adjusting for admission SBP and initial hematoma volume (OR 5.72, 95% CI 1.40 – 23.41, p= 0.02). There was a significant indirect effect of SIRS on discharge mRS through hematoma expansion. A significantly greater percentage of patients with SIRS had mRS 4-6 at discharge (59 vs 33%, p=0.02).ConclusionSIRS is associated with hematoma expansion of ICH within the first 24 hours, and hematoma expansion mediates the effect of SIRS on poor outcome. 相似文献
23.
Michael Zech MD Robert Jech MD PhD Sylvia Boesch MD Matej Škorvánek MD PhD Ján Necpál MD Jana Švantnerová MD Matias Wagner MD Ariane Sadr-Nabavi PhD Felix Distelmaier MD Martin Krenn MD PhD Tereza Serranová MD PhD Irena Rektorová MD PhD Petra Havránková MD PhD Alexandra Mosejová MD Iva Příhodová MD PhD Jana Šarláková MD Kristína Kulcsarová MD Olga Ulmanová MD PhD Karel Bechyně MD Miriam Ostrozovičová MD Vladimír Haň MD PhD Joaquim Ribeiro Ventosa MD Theresa Brunet MD Riccardo Berutti PhD Mohammad Shariati MD Ali Shoeibi MD Susanne A. Schneider MD Alice Kuster MD Matthias Baumann MD David Weise MD Friederike Wilbert MD Wibke G. Janzarik MD Matthias Eckenweiler MD Volker Mall MD Bernhard Haslinger MD Steffen Berweck MD Juliane Winkelmann MD Konrad Oexle MD 《Movement disorders》2021,36(8):1959-1964
24.
Ariane Sampson Daniel S. F. Figueiredo Huw G. Jeremiah Dauro D. Oliveira Laize R. P. Freitas Michele Chahoud Rodrigo V. Soares Martyn T. Cobourne 《The Angle orthodontist》2021,91(3):363
ObjectivesTo investigate the relationship between the use of social networking sites (SNSs) on patient perceptions, acceptance, and expectations of treatment using temporary anchorage devices (TADs) and to compare differences between patients from the United Kingdom and Brazil.Materials and MethodsCross-sectional questionnaires were administered to 39 participants at orthodontic practices in the United Kingdom and Brazil about patients'' use of SNSs, exposure to TADs on SNSs, and thoughts on extractions, jaw surgery, or TADs as treatment options.ResultsUK patients prefer for clinicians to have SNS profiles (P = .022). Most UK and Brazilian patients want to see their clinician''s work online (76.7%) and use SNSs to get information about treatment options (76.6%). There was a statistically significant difference in Brazilian patients'' acceptance of TADs as a treatment option compared with UK patients, particularly if it meant avoiding extractions (P = .002), avoiding jaw surgery (P = .004), or reducing treatment time (P = .010). Knowledge of TADs was greater in Brazilian patients (P < .001).ConclusionsPatients use SNSs to obtain information about treatments and prefer clinicians to have social media accounts. Patients exposed to TADs on SNSs are more likely to accept them as an orthodontic treatment option. UK patients have less knowledge of TADs and are therefore less sure to consider TADs as an option. Brazilian patients are more confident in considering the use of TADs. Clinicians should consider increasing their social media presence to accommodate patients'' expectations and acceptance of TADs. 相似文献
25.
Rodrigo Guabiraba Remo C. Russo Amanda M. Coelho Mônica A. N. D. Ferreira Gabriel A. O. Lopes Ariane K. C. Gomes Silvia P. Andrade Luciola S. Barcelos Mauro M. Teixeira 《Inflammation research》2013,62(8):811-821
Objective
Angiogenesis depends on a complex interaction between cellular networks and mediators. The endocannabinoid system and its receptors have been shown to play a role in models of inflammation. Here, we investigated whether blockade of cannabinoid receptors may interfere with inflammatory angiogenesis.Materials and methods
Polyester-polyurethane sponges were implanted in C57Bl/6j mice. Animals received doses (3 and 10 mg/kg/daily, s.c.) of the cannabinoid receptor antagonists SR141716A (CB1) or SR144528 (CB2). Implants were collected at days 7 and 14 for cytokines, hemoglobin, myeloperoxidase, and N-acetylglucosaminidase measurements, as indices of inflammation, angiogenesis, neutrophil and macrophage accumulation, respectively. Histological and morphometric analysis were also performed.Results
Cannabinoid receptors expression in implants was detected from day 4 after implantation. Treatment with CB1 or CB2 receptor antagonists reduced cellular influx into sponges at days 7 and 14 after implantation, although CB1 receptor antagonist were more effective at blocking leukocyte accumulation. There was a reduction in TNF-α, VEGF, CXCL1/KC, CCL2/JE, and CCL3/MIP-1α levels, with increase in CCL5/RANTES. Both treatments reduced neovascularization. Dual blockade of cannabinoid receptors resulted in maximum inhibition of inflammatory angiogenesis.Conclusions
Blockade of cannabinoid receptors reduced leukocyte accumulation, inflammation and neovascularization, suggesting an important role of endocannabinoids in sponge-induced inflammatory angiogenesis both via CB1 and CB2 receptors. 相似文献26.
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Antifibrogenic role of the cannabinoid receptor CB2 in the liver 总被引:10,自引:0,他引:10
Julien B Grenard P Teixeira-Clerc F Van Nhieu JT Li L Karsak M Zimmer A Mallat A Lotersztajn S 《Gastroenterology》2005,128(3):742-755