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41.
Radha Kothari Magda Rosinska Janet Treasure Nadia Micali 《European eating disorders review》2014,22(2):152-156
Diagnosis of an eating disorder (ED) has been associated with differences in cognition. Recent evidence suggests that differences may be present prior to onset. Children at familial high risk for ED show cognitive differences at ages 8–10 years. Research is required to investigate differences in cognitive development at various time points. This is the first study to investigate cognitive development in children at high risk at 18 months (Griffiths Mental Development Scale; n = 982) and 4 years old (Wechsler Preschool and Primary Scale of Intelligence—Revised; n = 582), in comparison with children not at risk, using a general population sample, the Avon Longitudinal Study of Parents and Children. Children of women with lifetime anorexia nervosa revealed difficulties in social understanding, visual‐motor function, planning and abstract reasoning. Cognitive differences observed here have also been observed in clinical groups. This suggests difficulties may be present prior to onset, potentially affecting risk status for development of ED. Findings contribute to an understanding of aetiology, and design of prevention/intervention strategies. Copyright © 2013 The Authors. European Eating Disorders Review published by John Wiley & Sons Ltd. 相似文献
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Marcília S. Grassi Cristina M. A. Jacob Leslie D. Kulikowski Antonio C. Pastorino Roberta L. Dutra Nana Miura Marcelo B. Jatene Stephanie P. Pegler Chong A. Kim Magda Carneiro-Sampaio 《Arquivos brasileiros de cardiologia》2014,103(5):382-390
Background
To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).Objective
To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.Methods
The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.Results
CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.Conclusion
Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. 相似文献45.
Bach A Clausen BH Møller M Vestergaard B Chi CN Round A Sørensen PL Nissen KB Kastrup JS Gajhede M Jemth P Kristensen AS Lundström P Lambertsen KL Strømgaard K 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(9):3317-3322
Inhibition of the ternary protein complex of the synaptic scaffolding protein postsynaptic density protein-95 (PSD-95), neuronal nitric oxide synthase (nNOS), and the N-methyl-D-aspartate (NMDA) receptor is a potential strategy for treating ischemic brain damage, but high-affinity inhibitors are lacking. Here we report the design and synthesis of a novel dimeric inhibitor, Tat-NPEG4(IETDV)(2) (Tat-N-dimer), which binds the tandem PDZ1-2 domain of PSD-95 with an unprecedented high affinity of 4.6 nM, and displays extensive protease-resistance as evaluated in vitro by stability-measurements in human blood plasma. X-ray crystallography, NMR, and small-angle X-ray scattering (SAXS) deduced a true bivalent interaction between dimeric inhibitor and PDZ1-2, and also provided a dynamic model of the conformational changes of PDZ1-2 induced by the dimeric inhibitor. A single intravenous injection of Tat-N-dimer (3 nmol/g) to mice subjected to focal cerebral ischemia reduces infarct volume with 40% and restores motor functions. Thus, Tat-N-dimer is a highly efficacious neuroprotective agent with therapeutic potential in stroke. 相似文献
46.
da Fonseca LM da Luz MM Lacerda-Filho A Cabral MM da Silva RG 《International journal of colorectal disease》2012,27(2):249-255
Purpose
Although colorectal cancer is typical in the older population, tumor onset before age 40 is not infrequent. However, the behavior, characteristics, and prognosis of this disease in young patients are unclear when compared to the older population. It is believed that young patients have a poor prognosis. We hypothesized that young patients have a poor prognosis because they have advanced-stage cancer with more aggressive pathologic features. 相似文献47.
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