New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy

We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides–Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides–Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.

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Analysis of factors influenced by the effectiveness of non-invasive ventilation in the treatment of acute exacerbation of chronic obstructive pulmonary disease with different severities

OBJECTIVE: To investigate the correlation of levels of procalcitonin (PCT) and blood lactic acid with the effectiveness of the non-invasive ventilation (NIV) in the treatment of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) with different severities.

PATIENTS AND METHODS: We used a case-control method to study patients who were admitted for AECOPD to the ICU at the Second Affiliated Hospital of Soochow University from January 1, 2012, to December 31, 2014. The patients had shown no response to conventional therapy or to NIV treatment. The patients who had been treated with NIV before ICU admission were excluded. According to the pH value of arterial blood gas analysis after ICU admission, the AECOPD patients were divided into a mild group (pH ≥ 7.30) and a severe group (pH < 7.30). On the basis of whether a patient needed an artificial airway after NIV therapy, the two groups of patients were divided into two subgroups: an effective group and an ineffective group. A total of 153 patient were screened for the study. Of the 62 patients in the mild group, 38 cases were in the effective group, while 24 cases were in the ineffective group. Through the comparative analysis of clinical features of the patients in the two subgroups before NIV therapy, the single factor analysis between groups was applied to find the factor that influenced the effectiveness of NIV in the treatment of AECOPD with different severities. The logistic regression for multi-factor analysis was applied.

RESULTS: The results implied that the level of procalcitonin (PCT) in patients of the effective group was significantly lower than the level in the ineffective group (0.95 ± 0.54 vs. 1.34 ± 0.70, p = 0.016). Of 89 patients in the severe group, 33 cases were in the effective group, while 56 cases were in the ineffective group. The results indicated that levels of PCT (0.99 ± 0.57 vs. 1.46 ± 0.81, p = 0.004) and blood lactic acid (1.5 ± 0.5 vs. 1.9 ± 0.8, p = 0.008) in patients of the effective group were significantly lower than levels of the ineffective group.

CONCLUSIONS: The PCT and blood lactic acid, which reflect infection severity, are factors influenced by the effectiveness of NIV in the treatment of AECOPD of different severities.

L'articolo Analysis of factors influenced by the effectiveness of non-invasive ventilation in the treatment of acute exacerbation of chronic obstructive pulmonary disease with different severities sembra essere il primo su European Review.

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Structural Determinants for NF-Y/DNA Interaction at the CCAAT Box

Publication date: Available online 25 September 2016
Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
Author(s): Valentina Nardone, Antonio Chaves-Sanjuan, Marco Nardini
The recently determined crystal structures of the sequence-specific transcription factor NF-Y have illuminated the structural mechanism underlying transcription at the CCAAT box. NF-Y is a trimeric protein complex composed by the NF-YA, NF-YB, and NF-YC subunits. NF-YB and NF-YC contain a histone-like domain and assemble on a head-to-tail fashion to form a dimer, which provides the structural scaffold for the DNA sugar-phosphate backbone binding (mimicking the nucleosome H2A/H2B–DNA assembly) and for the interaction with NF-YA. The NF-YA subunit hosts two structurally extended α-helices; one is involved in NF-YB/NF-YC binding and the other inserts deeply into the DNA minor groove, providing exquisite sequence-specificity for recognition and binding of the CCAAT box. The analysis of these structural data is expected to serve as a powerful guide for future experiments aimed at understanding the role of post-translational modification at NF-Y regulation sites and to unravel the three-dimensional architecture of higher order complexes formed between NF-Y and other transcription factors that act synergistically for transcription activation. Moreover, these structures represent an excellent starting point to challenge the formation of a stable hybrid nucleosome between NF-Y and core histone proteins, and to rationalize the fine molecular details associated to the wide combinatorial association of plant NF-Y subunits.



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Overexpression of OsSPL9 enhances accumulation of Cu in rice grain and improves itsdigestibility and metabolism

Publication date: Available online 25 September 2016
Source:Journal of Genetics and Genomics
Author(s): Mingfeng Tang, Chuanshe Zhou, Lu Meng, Donghai Mao, Chengbing Liu, Can Peng, Yuxing Zhu, Dechun Zhang, Daoyou Huang, Zhiliang Tan, Caiyan Chen




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