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Autistic disorder and 22q11.2 duplication. 总被引:2,自引:0,他引:2
Nahit Motavalli Mukaddes Sabri Herguner 《The world journal of biological psychiatry》2007,8(2):127-130
Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including trisomy 22, translocation 20/22, 22q11.2 deletion, ring chromosome 22, and 22q13.3 deletion, there is no report with 22q11.2 duplication. We report a 9-year-old girl, referred to our department for her behavioural problems and language delay. She was diagnosed with autistic disorder according to DSM-IV criteria. Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had gone under cytogenetic analysis. Although she was ascertained as suspected velocardiofacial syndrome (VCFS), the duplication of 22q11.2 was detected by interphase fluorescence in situ hybridization. Previous reports on the psychiatric aspects of 22q11.2 duplication have shown the existence of hyperactivity, learning disability, speech problems, and aggressive behaviours but not autism. Moreover, the lack of reports of co-occurrence of autism and 22q11.2 duplication may be related to paucity as a result of technical problems. 相似文献
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Sabri Acarturk Emrah Arslan Ferit Demirkan Sakir Unal 《Journal of plastic, reconstructive & aesthetic surgery》2006,59(4):409-16; discussion 417-8
Severe middle vault deformity with disturbed nasal form and function is one of the most challenging procedures to correct in a secondary rhinoplasty. Reconstructing the deformity with autologous septal cartilage would be the primary choice of most surgeons, if it were always available. However in certain cases the lack of a sufficient quantity of autologous cartilage has forced surgeons to explore other viable options. This paper discusses our experience with the combined use of spreader and dorsal onlay grafts from various materials in the reconstruction of severe middle vault deformity in 110 patients. In follow up, (between 6 and 42 months; mean 21 months) all patients were noted to have improved in both aesthetics and function with no major complications noted. In summary, this study proposes that any engrafting material can be used safely when the proper surgical principals and technique are employed. 相似文献
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2-[18F]Fluoro-3-(2(S)-azetidinylmethoxy)pyridine (2-[18F]F-A-85380) was among the first subtype selective radioligands to visualise the in vivo distribution of alpha4beta2-containing neuronal nicotinic acetylcholine receptors (nAChRs) in human brain. We developed a one-pot synthesis for the preparation of 2-[18F]F-A-85380 in a commercially available TRACERlab FXF-N synthesis module. The synthesis comprises a nucleophilic substitution followed by hydrolysis of a t-butyloxycarbonyl (BOC)-protected intermediate. After formulation for intravenous application up to 20 G Bq 2-[18F]F-A-85380 were produced from a starting activity of 100 G Bq [18F]fluoride in 60 min with a specific activity of about 4.10(5)GBq/mmol and a mean radiochemical purity of more than 99%. 相似文献
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Roy Sabri 《American journal of orthodontics and dentofacial orthopedics》2004,125(5):634-642
This article describes the treatment of an adolescent girl who was congenitally missing all 4 second premolars and had a retained mandibular second primary molar. Various treatment alternatives are discussed, and the final treatment plan of space opening for 3 implants and space closure of the maxillary left second premolar site is presented. 相似文献
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Margrit Klingner Jenny Apelt Ashok Kumar Dietlind Sorger Osama Sabri J?rg Steinbach Matthias Scheunemann Reinhard Schliebs 《International journal of developmental neuroscience》2003,21(7):357-369
Cholinergic deficits in Alzheimer's disease are accompanied by a number of alterations in other transmitter systems including glutamate, noradrenaline and serotonin, suggesting the involvement also of other neurotransmitter systems in the pathogenesis of the disease. To address the question whether beta-amyloid may contribute to these deficits, brain tissue from transgenic Tg2576 mice with Alzheimer plaque pathology at ages of 5 (still no significant plaque load) and 17 months (moderate to high cortical beta-amyloid plaque load) were examined for a number of cholinergic and non-cholinergic markers. Transgenic mice with no significant plaque load demonstrated reduced hemicholinium-3 (HCh-3) binding to choline uptake sites in anterior brain regions as compared to non-transgenic littermates, while in aged transgenic mice with high number of plaque deposits decreased HCh-3 binding levels were accompanied by increased vesicular acetylcholine transporter binding in selected cortical brain regions. In aged transgenic mice GABA(A), NMDA, AMPA, kainate, and beta-adrenergic as well 5-HT(1A)- and 5-HT(2A)-receptor binding levels were hardly affected, whereas alpha(1)- and alpha(2)-adrenoceptor binding was increased in selected cerebral cortical regions as compared to non-transgenic littermates. The development of changes in both cholinergic and non-cholinergic markers in transgenic Tg2576 mouse brain already before the onset of progressive plaque deposition provides in vivo evidence of a modulatory role of soluble beta-amyloid on cortical neurotransmission and may be referred to the deficits in learning and memory observed in these mice also before significant plaque load. 相似文献
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Increasing evidence suggests that oxidative and nitrosative stress play an important role in regulation of cardiac myocyte growth and survival. The cardiovascular system is continuously exposed to both reactive oxygen species (ROS) and nitrogen species (RNS), collectively termed reactive inflammatory species (RIS), and imbalances between the enzymes that regulate their bioavailability are associated with cardiac hypertrophy and the pathogenesis of cardiomyopathies, myocardial infarction and heart failure. It is now clear that RIS act as critical regulators of cardiac myocyte hypertrophy and apoptosis through control of redox-sensitive signaling cascades, such as tyrosine kinases and phosphatases, protein kinase C, and mitogen-activated protein kinases. This review will focus on the mechanisms by which ROS/RNS modulate cardiac myocyte growth and apoptosis induced by neurohormones and cytokines, and will discuss evidence for a role in the pathophysiology of heart failure. 相似文献
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The ethereal extract of AJUGA IVA (L.) S CHREB. roots, yielded 4 ecdysones. Three were proved to be cyasterone, makisterone A and ecdysterone, by using UV, IR, MS spectral methods and comparison with standard samples. Spectral data indicate that the fourth ecdysone is similar to cyasterone but having an additional hydroxy group in the side-chain. The chromatographic pattern of ecdysone content in roots, stems and leaves is presented as well as a rapid and simple Semiquantitative method for their estimation. The roots had the highest total content (0.381%). 相似文献