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https://www.readbyqxmd.com/read/28203419/diagnosis-of-mitral-valve-cleft-using-real-time-3-dimensional-echocardiography
#1
Xinchun Yuan, Aiyun Zhou, Li Chen, Cheng Zhang, Yan Zhang, Pan Xu
BACKGROUND: Mitral valve cleft (MVC) is the most common cause of congenital mitral insufficiency, and MVC may occur alone or in association with other congenital heart lesions. Direct suture and valvuloplasty are the major and effective treatments for mitral regurgitation (MR) caused by MVC. Therefore, it is important to determine the location and magnitude of the pathological damage due to MVC when selecting a surgical procedure for treatment. This study explored the application value of transthoracic real-time 3-dimensional (3D) echocardiography (RT-3DE) in the diagnosis of MVC...
January 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28193329/characterization-and-crystal-structure-of-a-thermostable-glycoside-hydrolase-family-45-1-4-%C3%AE-endoglucanase-from-thielavia-terrestris
#2
Jian Gao, Jian-Wen Huang, Qian Li, Weidong Liu, Tzu-Ping Ko, Yingying Zheng, Xiansha Xiao, Chih-Jung Kuo, Chun-Chi Chen, Rey-Ting Guo
1,4-β-Endoglucanase is one of the most important biocatalysts in modern industries. Here, a glycoside hydrolase (GH) family 45 endoglucanase from thermophilic fungus Theilavia terrestris (TtCel45A) was expressed in Pichia pastoris. The recombinant protein shows optimal activity at 60°C, pH 4-5. The enzyme exhibits extraordinary thermostability that more than 80% activity was detected after heating at 80°C for 2.5h. The high resolution crystal structures of apo-form enzyme and that in complex with cellobiose and cellotetraose were solved to 1...
April 2017: Enzyme and Microbial Technology
https://www.readbyqxmd.com/read/28191659/lumbar-syndrome-a-case-manifesting-as-cutaneous-infantile-hemangiomas-of-the-lower-extremity-perineum-and-gluteal-region-and-a-review-of-published-work
#3
Xia Yu, Jia Zhang, Zhouwei Wu, Ming Liu, Ruhong Chen, Yan Gu, Ming Li, Zhirong Yao
We herein report a rare case of LUMBAR syndrome. A 1-month-old female infant presented with extensive segmental hemangiomas on the left lower extremity, left perineum and gluteal region with ulceration. Bilateral labia minoras were asymmetrical. Both legs were asymmetrical with left leg atrophy, and the intergluteal cleft was deviated. A dark red pustule and a sacrococcygeal dimple could be seen in the lumbosacral region. Lipomyelomeningocele, tethered cord and sacrum dysplasia were noted by magnetic resonance imaging...
February 13, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#4
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28071053/functional-characterization-of-the-unique-terminal-thioesterase-domain-from-polymyxin-synthetase
#5
Charles A Galea, Kade D Roberts, Yan Zhu, Philip E Thompson, Jian Li, Tony Velkov
Polymyxins remain one of the few antibiotics available for treating antibiotic resistant bacteria. Here we describe polymyxin B thioesterase which performs the final step in polymyxin B biosynthesis. Isolated thioesterase catalyzed cyclization of an N-acetylcystamine polymyxin B analogue to form polymyxin B. The thioesterase contained a catalytic cysteine unlike most thioesterases which possess a serine. Supporting this, incubation of polymyxin B thioesterase with reducing agents abolished enzymatic activity, while mutation of the catalytic cysteine to serine significantly decreased activity...
January 17, 2017: Biochemistry
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#6
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28049725/structural-basis-for-the-interaction-between-golgi-reassembly-stacking-protein-grasp55-and-golgin45
#7
Jianfeng Zhao, Bowen Li, Xiaochen Huang, Xavier Morelli, Ning Shi
Golgin45 is required for normal Golgi structure and the transportation of protein from the ER. It forms a specific complex with GRASP55 in vivo Little is known regarding the molecular details of this interaction and its structural role in stacking of the Golgi complex. Here, we present the crystal structure of the GRASP domains of GRASP55 in complex with the Golgin45 C-terminal peptide, determined at 1.33 Å resolution. Similar to the structure of GRASP65 bound to GM130 reported recently, this structure reveals more than one interacting site and involves both PDZ1 and PDZ2 domains of the GRASP simultaneously...
February 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28045819/volumetric-analysis-of-alveolar-bone-defect-using-three-dimensional-printed-models-versus-computer-aided-engineering
#8
Fengzhou Du, Binghang Li, Ningbei Yin, Yilin Cao, Yongqian Wang
Knowing the volume of a graft is essential in repairing alveolar bone defects. This study investigates the 2 advanced preoperative volume measurement methods: three-dimensional (3D) printing and computer-aided engineering (CAE). Ten unilateral alveolar cleft patients were enrolled in this study. Their computed tomographic data were sent to 3D printing and CAE software. A simulated graft was used on the 3D-printed model, and the graft volume was measured by water displacement. The volume calculated by CAE software used mirror-reverses technique...
December 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005827/spontaneous-involution-of-a-rathke-cleft-cyst
#9
Lei Cheng, Pin Guo, Peng Jin, Huanting Li, Mingchao Fan, Enyuan Cai
Rathke cleft cysts (RCCs) are nonneoplastic lesions that are thought to be the remnants of Rathke cleft pouch. The authors report a patient presented with a headache and was diagnosed with RCC on imaging. The lesion underwent spontaneous involution. The authors suggest that patients presenting solely with a headache to be treated conservatively, because it is uncertain whether a headache is definitively associated with RCCs and because there is the possibility of spontaneous regression.
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28001102/transforming-growth-factor-alpha-taq-i-polymorphisms-and-nonsyndromic-cleft-lip-and-or-palate-risk-a-meta-analysis
#10
Chen Yan, He Deng-Qi, Chen Li-Ya, Yang Mang, Yang Ke-Hu
BACKGROUND:   A series of epidemiological studies were conducted to investigate the association between transforming growth factor alpha (TGFA) polymorphism and nonsyndromic cleft lip and/or palate (CL/P) risk, but the findings remain conflicting. The present meta-analysis summarizes the association between the TGFA Taq I polymorphisms and nonsyndromic CL/P risk. METHODS:   We searched PubMed, EMBASE, Web of Science, and Chinese Biomedical Literature databases from their inception to May 1, 2015...
December 21, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27994178/application-of-high-resolution-snp-arrays-in-patients-with-congenital-oral-clefts-in-south-china
#11
Ting-Ying Lei, Hong-Tao Wang, Fan Li, Ying-Qiu Cui, Fang Fu, Ru Li, Can Liao
Chromosome microarray analysis (CMA) has proven to be a powerful tool in postnatal patients with intellectual disabilities. However, the diagnostic capability of CMA in patients with congenital oral clefts remain mysterious. Here, we present our clinical experience in implementing whole-genome high-resolution SNP arrays to investigate 33 patients with syndromic and nonsyndromic oral clefts in whom standard karyotyping analyses showed normal karyotypes. We aim to identify the genomic aetiology and candidate genes in patients with congenital oral clefts...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27936023/a-single-pair-of-serotonergic-neurons-counteracts-serotonergic-inhibition-of-ethanol-attraction-in-drosophila
#12
Li Xu, Jianzheng He, Andrea Kaiser, Nikolas Gräber, Laura Schläger, Yvonne Ritze, Henrike Scholz
Attraction to ethanol is common in both flies and humans, but the neuromodulatory mechanisms underlying this innate attraction are not well understood. Here, we dissect the function of the key regulator of serotonin signaling-the serotonin transporter-in innate olfactory attraction to ethanol in Drosophila melanogaster. We generated a mutated version of the serotonin transporter that prolongs serotonin signaling in the synaptic cleft and is targeted via the Gal4 system to different sets of serotonergic neurons...
2016: PloS One
https://www.readbyqxmd.com/read/27920087/structural-visualization-of-the-p53-rna-polymerase-ii-assembly
#13
Sameer K Singh, Zhen Qiao, Lihua Song, Vijay Jani, William Rice, Edward Eng, Robert A Coleman, Wei-Li Liu
The master tumor suppressor p53 activates transcription in response to various cellular stresses in part by facilitating recruitment of the transcription machinery to DNA. Recent studies have documented a direct yet poorly characterized interaction between p53 and RNA polymerase II (Pol II). Therefore, we dissected the human p53/Pol II interaction via single-particle cryo-electron microscopy, structural docking, and biochemical analyses. This study reveals that p53 binds Pol II via the Rpb1 and Rpb2 subunits, bridging the DNA-binding cleft of Pol II proximal to the upstream DNA entry site...
November 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27917834/the-crystal-structure-of-the-endoglucanase-cel10-a-family-8-glycosyl-hydrolase-from-klebsiella-pneumoniae
#14
Ayman Attigani, Lifang Sun, Qing Wang, Yadan Liu, Dingping Bai, Shengping Li, Xiaohong Huang
Cellulases are produced by microorganisms that grow on cellulose biomass. Here, a cellulase, Cel10, was identified in a strain of Klebsiella pneumoniae isolated from Chinese bamboo rat gut. Analysis of substrate specificity showed that Cel10 is able to hydrolyze amorphous carboxymethyl cellulose (CMC) and crystalline forms of cellulose (Avicel and xylan) but is unable to hydrolyze p-nitrophenol β-D-glucopyranoside (p-NPG), proving that Cel10 is an endoglucanase. A phylogenetic tree analysis indicates that Cel10 belongs to the glycoside hydrolase 8 (GH8) subfamily...
December 1, 2016: Acta Crystallographica. Section F, Structural Biology Communications
https://www.readbyqxmd.com/read/27889096/novel-functional-properties-of-drosophila-cns-glutamate-receptors
#15
Yan Li, Poorva Dharkar, Tae-Hee Han, Mihaela Serpe, Chi-Hon Lee, Mark L Mayer
Phylogenetic analysis reveals AMPA, kainate, and NMDA receptor families in insect genomes, suggesting conserved functional properties corresponding to their vertebrate counterparts. However, heterologous expression of the Drosophila kainate receptor DKaiR1D and the AMPA receptor DGluR1A revealed novel ligand selectivity at odds with the classification used for vertebrate glutamate receptor ion channels (iGluRs). DKaiR1D forms a rapidly activating and desensitizing receptor that is inhibited by both NMDA and the NMDA receptor antagonist AP5; crystallization of the KaiR1D ligand-binding domain reveals that these ligands stabilize open cleft conformations, explaining their action as antagonists...
December 7, 2016: Neuron
https://www.readbyqxmd.com/read/27876010/a-discriminant-analysis-prediction-model-of-non-syndromic-cleft-lip-with-or-without-cleft-palate-based-on-risk-factors
#16
Huixia Li, Miyang Luo, Jiayou Luo, Jianfei Zheng, Rong Zeng, Qiyun Du, Junqun Fang, Na Ouyang
BACKGROUND: A risk prediction model of non-syndromic cleft lip with or without cleft palate (NSCL/P) was established by a discriminant analysis to predict the individual risk of NSCL/P in pregnant women. METHODS: A hospital-based case-control study was conducted with 113 cases of NSCL/P and 226 controls without NSCL/P. The cases and the controls were obtained from 52 birth defects' surveillance hospitals in Hunan Province, China. A questionnaire was administered in person to collect the variables relevant to NSCL/P by face to face interviews...
November 23, 2016: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/27875514/domino-flaps-for-repairing-of-secondary-bilateral-cleft-lip-with-severe-columella-deformity
#17
Jiao Wei, Cheng-An Chiang, Da Zhou, Qingfeng Li, Kai Liu
The patients with secondary bilateral cleft lip and nasal deformity always suffer from a serious part of the horizontal and vertical soft tissue deficiencies in the upper lip and nose, especially the columella. Normally, the Abbe flap is used to increase the soft tissue volume of upper lip. However, how to reconstruct the sever columella deficient, how to make full use of the Abbe flap and the remaining soft tissue of the upper lip, are always the problems that need to be solved by plastic surgeons. Twenty-nine patients with secondary bilateral cleft lip and severe columella deficiency were simultaneously reconstructed with several local flaps like dominos that was called "Domino sliding flaps...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27871707/cone-beam-computed-tomography-synthesized-cephalometric-study-of-operated-unilateral-cleft-lip-and-palate-and-noncleft-children-with-class-iii-skeletal-relationship
#18
Yifan Lin, Zhen Fu, Lian Ma, Weiran Li
INTRODUCTION: Our objective was to compare the craniofacial hard and soft tissue characteristics between children with operated unilateral cleft lip and palate (UCLP) and children with noncleft lip and palate (non-CLP) with a Class III skeletal relationship. METHODS: The study sample consisted of 30 subjects (18 boys, 12 girls; mean age, 10.21 years) affected by UCLP and 30 non-CLP subjects (17 boys, 13 girls; mean age, 10.19 years) as the control group. All subjects were in the mixed dentition with a Class III skeletal relationship...
November 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27863433/assessment-of-differentially-expressed-plasma-micrornas-in-nonsyndromic-cleft-palate-and-nonsyndromic-cleft-lip-with-cleft-palate
#19
Jingyun Li, Jijun Zou, Qian Li, Ling Chen, Yanli Gao, Hui Yan, Bei Zhou, Jun Li
Plasma microRNAs (miRNAs) have recently emerged as a new class of regulatory molecules that influence many biological functions. However, the expression profile of plasma microRNAs in nonsyndromic cleft palate (NSCP) or nonsyndromic cleft lip with cleft palate (NSCLP) remains poorly investigated. In this study, we used Agilent human miRNA microarray chips to monitor miRNA levels in three NSCP plasma samples (mixed as the CP group), three NSCLP plasma samples (mixed as the CLP group) and three normal plasma samples (mixed as the Control group)...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27817770/-effect-of-advanced-maternal-age-on-birth-defects-and-postnatal-complications-of-neonates
#20
Zheng Wang, Li Li, Xue-Ya Lei, Jin Xue, Hong-Ying Mi
OBJECTIVE: To investigate the effect of advanced maternal age on birth defects and postnatal complications of neonates. METHODS: Among the 1 109 neonates who were born at The First People's Hospital of Yunnan Province between January 2014 and December 2015, 536 neonates whose mothers were aged ≥35 years were enrolled as advanced age group and 573 neonates whose mothers were aged <35 years were enrolled as appropriate-age group. The incidences of the comorbidities in pregnancy, fetal intrauterine distress, neonatal birth defects, and postnatal complications were compared between the two groups...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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