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https://www.readbyqxmd.com/read/27925479/psychological-adjustment-to-craniofacial-conditions-excluding-oral-clefts-a-review-of-the-literature
#1
Kristin Billaud Feragen, Nicola Marie Stock
OBJECTIVE: A congenital craniofacial anomaly (CFA) is expected to impact upon several domains of psychological, emotional and social functioning, yet no recent reviews have comprehensively summarised the available literature. Further, existing reviews tend to draw upon literature in the field of cleft lip and palate, and do not give substantive attention to other types of CFAs. DESIGN: A review of 41 papers published between January 2000 and March 2016 pertaining to psychological adjustment to CFAs...
December 7, 2016: Psychology & Health
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#2
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27924390/technical-standardization-of-laparoscopic-repair-of-morgagni-diaphragmatic-hernia-in-children-results-of-a-multicentric-survey-on-43-patients
#3
Ciro Esposito, Maria Escolino, Francois Varlet, Amulya Saxena, Sabine Irtan, Paul Philippe, Alessandro Settimi, Mariapina Cerulo, Holger Till, Francois Becmeur, George W Holcomb
BACKGROUND: This study aimed to standardize the surgical correction technique of congenital Morgagni diaphragmatic hernia (CMDH), analyzing the results of an international multicentric survey. METHODS: The medical records of 43 patients (29 boys, 14 girls) who underwent laparoscopic repair of CMDH in 8 pediatric surgery units in a 5-year period were retrospectively reviewed. Their average age was 3.3 years. Ten patients (23.2%) presented associated malformations: 9 Down syndrome (20...
December 6, 2016: Surgical Endoscopy
https://www.readbyqxmd.com/read/27923725/long-term-results-of-secondary-alveolar-bone-grafting-using-a-technique-to-harvest-pure-calvarial-cancellous-bone-evaluation-based-on-plain-radiography-and-computed-tomography
#4
Kihwan Han, Woonhyeok Jeong, Hyeonjung Yeo, Jaehoon Choi, Junhyung Kim, Daegu Son, Sangho Oh, Changhyun Kim
BACKGROUND: We introduce a method to extract the maximum amount of cancellous bone from the calvarium and analyze the outcomes using plain radiography and computed tomography. METHODS: We retrospectively analyzed the medical records of patients who underwent secondary alveolar bone grafts using a maximal harvesting technique for calvarial cancellous bone. Bone survival was determined based on Enemark's grading system using plain radiographs. Alveolar thickness and height were analyzed by computed tomography and compared with radiographic measurements...
November 11, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/27923600/determinants-of-orofacial-clefting-ii-effects-of-5-aza-2-deoxycytidine-on-gene-methylation-during-development-of-the-first-branchial-arch
#5
Ratnam S Seelan, Partha Mukhopadhyay, Dennis R Warner, Irina A Smolenkova, M Michele Pisano, Robert M Greene
Defects in development of the secondary palate, which arise from the embryonic first branchial arch (1-BA), can cause cleft palate (CP). Administration of 5-Aza-2'-deoxycytidine (AzaD), a demethylating agent, to pregnant mice on gestational day 9.5 resulted in complete penetrance of CP in fetuses. Several genes critical for normal palatogenesis were found to be upregulated in 1-BA, 12hours after AzaD exposure. MethylCap-Seq (MCS) analysis identified several differentially methylated regions (DMRs) in DNA extracted from AzaD-exposed 1-BAs...
December 3, 2016: Reproductive Toxicology
https://www.readbyqxmd.com/read/27923221/influence-of-voice-focus-on-oral-nasal-balance-in-speakers-of-brazilian-portuguese
#6
Gillian de Boer, Viviane Cristina de Castro Marino, Larissa Cristina Berti, Eliana Maria Gradim Fabron, Tim Bressmann
OBJECTIVES: This study investigates whether a change in speaking voice focus affects the oral-nasal balance. The investigation was undertaken with different phonetic materials in speakers of Brazilian Portuguese, which features phonological and phonetic vowel nasalization. METHODS: Ten females read oral, balanced oral-nasal, and nasal loaded sentences in their normal voice, and with a backward focus and a forward focus. Nasalance scores were collected with a Nasometer 6400...
December 7, 2016: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/27922562/operation-smile-and-the-guwahati-comprehensive-cleft-care-center-multidisciplinary-global-activism-in-plastic-surgery
#7
Chad Allen Purnell
Participation in a medical mission in an underserved area is both a challenging and deeply satisfying experience. The global burden of cleft lip and palate is significant, and as plastic surgery providers we are all empowered to help these patients. Surgery for cleft lip and palate is life changing for patients, and the privilege of participating in a mission can be life altering for the providers as well. The Comprehensive Cleft Care Center in Guwahati, India, is a prime example of multidisciplinary collaboration resulting in excellent care in the developing world...
October 2016: Plastic Surgical Nursing
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#8
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#9
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920087/structural-visualization-of-the-p53-rna-polymerase-ii-assembly
#10
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...
December 5, 2016: Genes & Development
https://www.readbyqxmd.com/read/27919726/g-protein-coupled-receptor-interactions-with-cholesterol-deep-in-the-membrane
#11
Samuel Genheden, Jonathan W Essex, Anthony G Lee
G-protein coupled receptors (GPCRs) are located in membranes rich in cholesterol. The membrane spanning surfaces of GPCRs contain exposed backbone carbonyl groups and residue side chains potentially capable of forming hydrogen bonds to cholesterol molecules buried deep within the hydrophobic core of the lipid bilayer. Coarse-grained molecular dynamics (CGMD) simulations allow the observation of GPCRs in cholesterol-containing lipid bilayers for long times (50μs), sufficient to ensure equilibration of the system...
December 2, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27919119/-osteochondritis-dissecans-of-the-talus-a-critical-review
#12
J Bruns, C R Habermann, J P Petersen
The etiology remains unclear. Mechanical factors seem to play an important role. Most histologies report clefts between the cartilage and bone and necrotic areas. Several classifications have been published based on observations from imaging techniques or on intraoperative findings. Clinical symptoms are unspecific. Imaging techniques are of great importance: X-rays of the ankle joint enable a quick diagnostic overview. MRT is the imaging-technique of choice for diagnosing OCDT-lesions. Regarding treatment, a tremendous number of retrospective publications exist...
April 2016: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/27917906/novel-human-mutation-and-crispr-cas-genome-edited-mice-reveal-the-importance-of-c-terminal-domain-of-msx1-in-tooth-and-palate-development
#13
Silvia Naomi Mitsui, Akihiro Yasue, Kiyoshi Masuda, Takuya Naruto, Yoshiyuki Minegishi, Seiichi Oyadomari, Sumihare Noji, Issei Imoto, Eiji Tanaka
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16...
December 5, 2016: Scientific Reports
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/27917828/molecular-determinants-of-substrate-specificity-revealed-by-the-structure-of-clostridium-thermocellum-arabinofuranosidase-43a-from-glycosyl-hydrolase-family-43-subfamily-16
#15
Arun Goyal, Shadab Ahmed, Kedar Sharma, Vikas Gupta, Pedro Bule, Victor D Alves, Carlos M G A Fontes, Shabir Najmudin
The recent division of the large glycoside hydrolase family 43 (GH43) into subfamilies offers a renewed opportunity to develop structure-function studies aimed at clarifying the molecular determinants of substrate specificity in carbohydrate-degrading enzymes. α-L-Arabinofuranosidases (EC 3.2.1.55) remove arabinose side chains from heteropolysaccharides such as xylan and arabinan. However, there is some evidence suggesting that arabinofuranosidases are substrate-specific, being unable to display a debranching activity on different polysaccharides...
December 1, 2016: Acta Crystallographica. Section D, Structural Biology
https://www.readbyqxmd.com/read/27916520/water-bridge-mediates-recognition-of-mrna-cap-in-eif4e
#16
Dilraj Lama, Mohan R Pradhan, Christopher J Brown, Rohan S Eapen, Thomas L Joseph, Chee-Keong Kwoh, David P Lane, Chandra S Verma
Ligand binding pockets in proteins contain water molecules, which play important roles in modulating protein-ligand interactions. Available crystallographic data for the 5' mRNA cap-binding pocket of the translation initiation factor protein eIF4E shows several structurally conserved waters, which also persist in molecular dynamics simulations. These waters engage an intricate hydrogen-bond network between the cap and protein. Two crystallographic waters in the cleft of the pocket show a high degree of conservation and bridge two residues, which are part of an evolutionarily conserved scaffold...
November 24, 2016: Structure
https://www.readbyqxmd.com/read/27915011/determinants-of-orofacial-clefting-i-effects-of-5-aza-2-deoxycytidine-on-cellular-processes-and-gene-expression-during-development-of-the-first-branchial-arch
#17
Partha Mukhopadhyay, Ratnam S Seelan, Francine Rezzoug, Dennis R Warner, Irina A Smolenkova, Guy Brock, M Michele Pisano, Robert M Greene
In this study, we identify gene targets and cellular events mediating the teratogenic action(s) of 5-Aza-2'-deoxycytidine (AzaD), an inhibitor of DNA methylation, on secondary palate development. Exposure of pregnant mice (on gestation day (GD) 9.5) to AzaD for 12hrs resulted in the complete penetrance of cleft palate (CP) in fetuses. Analysis of cells of the embryonic first branchial arch (1-BA), in fetuses exposed to AzaD, revealed: 1) significant alteration in expression of genes encoding several morphogenetic factors, cell cycle inhibitors and regulators of apoptosis; 2) a decrease in cell proliferation; and, 3) an increase in apoptosis...
November 30, 2016: Reproductive Toxicology
https://www.readbyqxmd.com/read/27914790/sarcoplasmic-reticulum-ca-2-mg-2-k-and-cl-concentrations-adjust-quickly-as-heart-rate-changes
#18
Claudio Berti, Vilmos Zsolnay, Thomas R Shannon, Michael Fill, Dirk Gillespie
During systole, Ca(2+) is released from the sarcoplasmic reticulum (SR) through ryanodine receptors (RyRs) while, simultaneously, other ions (specifically K(+), Mg(2+), and Cl(-)) provide counter-ion flux. These ions move back into the SR during diastole through the SERCA pump and SR K(+) and Cl(-) channels. In homeostasis, all ion concentrations in different cellular regions (e.g., junctional and non-junctional SR, dyadic cleft, and cytosol) are the same at the beginning and end of the cardiac cycle. Here, we used an equivalent circuit compartment model of the SR and the surrounding cytoplasm to understand the heart rate dependence of SR ion homeostasis...
November 30, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27914422/modeling-of-oropharyngeal-articulatory-adaptation-to-compensate-for-the-acoustic-effects-of-nasalization
#19
Panying Rong, David P Kuehn, Ryan K Shosted
Hypernasality is one of the most detrimental speech disturbances that lead to declines of speech intelligibility. Velopharyngeal inadequacy, which is associated with anatomic defects such as cleft palate or neuromuscular disorders that affect velopharygneal function, is the primary cause of hypernasality. A simulation study by Rong and Kuehn [J. Speech Lang. Hear. Res. 55(5), 1438-1448 (2012)] demonstrated that properly adjusted oropharyngeal articulation can reduce nasality for vowels synthesized with an articulatory model [Mermelstein, J...
September 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/27913204/the-selective-bcl-2-inhibitor-venetoclax-a-bh3-mimetic-does-not-dysregulate-intracellular-ca-2-signaling
#20
Tamara Vervloessem, Hristina Ivanova, Tomas Luyten, Jan B Parys, Geert Bultynck
Anti-apoptotic B cell-lymphoma-2 (Bcl-2) proteins are emerging as therapeutic targets in a variety of cancers for precision medicines, like the BH3-mimetic drug venetoclax (ABT-199), which antagonizes the hydrophobic cleft of Bcl-2. However, the impact of venetoclax on intracellular Ca(2+) homeostasis and dynamics in cell systems has not been characterized in detail. Here, we show that venetoclax did not affect Ca(2+)-transport systems from the endoplasmic reticulum (ER) in permeabilized cell systems. Venetoclax (1μM) did neither trigger Ca(2+) release by itself nor affect agonist-induced Ca(2+) release in a variety of intact cell models...
November 30, 2016: Biochimica et Biophysica Acta
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