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https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#1
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28549746/infant-maternal-and-hospital-factors-role-in-loss-to-follow-up-after-failed-newborn-hearing-screening
#2
Maureen Cunningham, Vickie Thomson, Erica McKiever, L Miriam Dickinson, Anna Furniss, Mandy A Allison
BACKGROUND AND OBJECTIVES: Completion of newborn hearing screening (NBHS) is recommended by 1 month old. Delays and loss to follow-up and documentation (LTF/LTD) after failed NBHS are common. Committees of experts have established hospital guidelines to reduce LTF/LTD. We aimed to identify maternal and infant factors associated with LTF/LTD and determine if adherence to hospital guidelines is associated with timely completion of follow-up screening. METHODS: We conducted a retrospective study of all infants born in Colorado hospitals who failed the newborn admission hearing screen from 2007-2012 and a cross-sectional survey of NBHS coordinators at Colorado birthing hospitals...
May 23, 2017: Academic Pediatrics
https://www.readbyqxmd.com/read/28548973/beneficial-effects-of-two-types-of-personal-health-record-services-connected-with-electronic-medical-records-within-the-hospital-setting
#3
Jisan Lee, James G Boram Kim, Meiling Jin, Kiwhan Ahn, Byungjun Kim, Sukwha Kim, Jeongeun Kim
Healthcare consumers must be able to make decisions based on accurate health information. To assist with this, we designed and developed an integrated system connected with electronic medical records in hospitals to ensure delivery of accurate health information. The system-called the Consumer-centered Open Personal Health Record platform-is composed of two services: a portal for users with any disease and a mobile application for users with cleft lip/palate. To assess the benefits of these services, we used a quasi-experimental, pretest-posttest design, assigning participants to the portal (n = 50) and application (n = 52) groups...
May 26, 2017: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/28548391/structural-and-functional-observations-of-the-p151l-mid1-mutation-reveal-alpha4-plays-a-significant-role-in-x-linked-opitz-syndrome
#4
Katharine M Wright, Haijuan Du, Michael A Massiah
Mutations of human MID1 are associated with X-linked Opitz G Syndrome (XLOS), which is characterized by midline birth defects. XLOS-observed mutations within the MID1 B-box1 domain are associated with cleft lip/palate, wide-spaced eyes and hyperspadias. Three of the four XLOS-observed mutations result in B-box1 unfolding but the structural and functional effects of the P151L mutation is not characterized. Here, we demonstrate that the P151L mutation does not disrupt the overall tertiary structure of the B-box1 domain and the adjacent domains...
May 26, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28547009/velopharyngeal-status-of-stop-consonants-and-vowels-produced-by-young-children-with-and-without-repaired-cleft-palate-at-12-14-and-18-months-of-age-a-preliminary-analysis
#5
Marziye Eshghi, Linda D Vallino, Adriane L Baylis, John S Preisser, David J Zajac
Purpose: The objective was to determine velopharyngeal (VP) status of stop consonants and vowels produced by young children with repaired cleft palate (CP) and typically developing (TD) children from 12 to 18 months of age. Method: Nasal ram pressure (NRP) was monitored in 9 children (5 boys, 4 girls) with repaired CP with or without cleft lip and 9 TD children (5 boys, 4 girls) at 12, 14, and 18 months of age. VP status was categorized as open or closed for oral stops and vowels in three contexts-consonant-vowel syllables, vowel-consonant-vowel syllables, and isolated vowels-on the basis of the presence or absence of positive nasal ram pressure...
May 24, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28546828/improving-the-thermostability-of-a-fungal-gh11-xylanase-via-site-directed-mutagenesis-guided-by-sequence-and-structural-analysis
#6
Nanyu Han, Huabiao Miao, Junmei Ding, Junjun Li, Yuelin Mu, Junpei Zhou, Zunxi Huang
BACKGROUND: Xylanases have been widely employed in many industrial processes, and thermophilic xylanases are in great demand for meeting the high-temperature requirements of biotechnological treatments. In this work, we aim to improve the thermostability of XynCDBFV, a glycoside hydrolase (GH) family 11 xylanase from the ruminal fungus Neocallimastix patriciarum, by site-directed mutagenesis. We report favorable mutations at the C-terminus from B-factor comparison and multiple sequence alignment...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28546340/the-golgi-matrix-protein-giantin-is-required-for-normal-cilia-function-in-zebrafish
#7
Dylan J M Bergen, Nicola L Stevenson, Roderick E H Skinner, David J Stephens, Christina L Hammond
The Golgi is essential for glycosylation of newly synthesised proteins including almost all cell-surface and extracellular matrix proteoglycans. Giantin, encoded by the golgb1 gene, is a member of the golgin family of proteins that reside within the Golgi stack but its function remains elusive. Loss-of-function of giantin in rats causes osteochondrodysplasia; knockout mice show milder defects, notably a cleft palate. In vitro, giantin has been implicated in Golgi organisation, biosynthetic trafficking, and ciliogenesis...
May 25, 2017: Biology Open
https://www.readbyqxmd.com/read/28546214/rna-polymerase-motions-during-promoter-melting
#8
Andrey Feklistov, Brian Bae, Jesse Hauver, Agnieszka Lass-Napiorkowska, Markus Kalesse, Florian Glaus, Karl-Heinz Altmann, Tomasz Heyduk, Robert Landick, Seth A Darst
All cellular RNA polymerases (RNAPs), from those of bacteria to those of man, possess a clamp that can open and close, and it has been assumed that the open RNAP separates promoter DNA strands and then closes to establish a tight grip on the DNA template. Here, we resolve successive motions of the initiating bacterial RNAP by studying real-time signatures of fluorescent reporters placed on RNAP and DNA in the presence of ligands locking the clamp in distinct conformations. We report evidence for an unexpected and obligatory step early in the initiation involving a transient clamp closure as a prerequisite for DNA melting...
May 26, 2017: Science
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#9
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543922/molluscum-contagiosum-of-the-gluteal-cleft-observations-and-implications-for-management-in-five-children
#10
Joshua R Bakke, Sarah L Stein
Molluscum contagiosum (MC) is a common, self-limited skin infection caused by a double-stranded DNA virus of the family Poxviridae. Although the morphology of the disease is well described, MC presenting at unusual sites can exhibit atypical morphology, resulting in misdiagnosis. This observational, retrospective case series discusses the novel morphology of MC presenting in the intergluteal cleft of five children seen in the outpatient dermatology clinic of an academic medical center. We present this case series to highlight this novel presentation of MC in children and to emphasize a conservative approach to management given the sensitive location and the self-limited nature of the infection...
May 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28543850/structures-and-kinetics-for-plant-nucleoside-triphosphate-diphosphohydrolases-ntpdases-support-a-domain-motion-catalytic-mechanism
#11
Emma L Summers, Mathew H Cumming, Tifany Oulavallickal, Nick Roberts, Vickery L Arcus
Extracellular nucleoside triphosphate diphosphohydrolases (NTPDases) are enzymes that hydrolyse extracellular nucleotides to the respective monophosphate nucleotides. In the past 20 years, NTPDases belonging to mammalian, parasitic and prokaryotic domains of life have been discovered, cloned and characterized. We reveal the first structures of NTPDases from the legume plant species Trifolium repens (7WC) and Vigna unguiculata subsp. cylindrica (DbLNP). Four crystal structures of 7WC and DbLNP were determined at resolutions between 1...
May 24, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28543753/%C3%AE-rep-a3-a-versatile-artificial-scaffold-for-metalloenzyme-design
#12
Thibault Di Meo, Wadih Ghattas, Christian Herrero, Christophe Velours, Philippe Minard, Jean-Pierre Mahy, Rémy Ricoux, Agathe Urvoas
αRep is a new family of artificial proteins based on a thermostable alpha-helical repeated motif. One of its members, αRep A3, forms a stable homo-dimer with a wide cleft that is able to receive metal complexes and thus appears as suitable for generating new artificial biocatalysts. Based on the crystal structure of αRep A3, two positions (F119 and Y26) were chosen and changed independently into cysteine residues. A phenanthroline ligand was covalently attached to the unique cysteine of each protein variant and the corresponding biohybrids were purified and characterized...
May 22, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28543621/morphological-characteristics-of-the-oropharyngeal-cavity-tongue-palate-and-laryngeal-entrance-in-the-eurasian-coot-fulica-atra-linnaeus-1758
#13
M M A Abumandour, N E R El-Bakary
The present study represents the first definitive anatomical description of the oropharyngeal cavity of the coot Fulica atra. For this purpose, the organs of six birds were prepared to examine grossly and by SEM and stereomicroscope. The oval lingual apex had multiple overlapping branched acicular processes on its anterior and lateral border. The lingual apex and body had multiple caudally directed filiform-like papillae. By stereomicroscopy, the lingual root had a characteristic appearance and consisted of four parts...
May 22, 2017: Anatomia, Histologia, Embryologia
https://www.readbyqxmd.com/read/28543440/chronic-sleep-restriction-disrupts-interendothelial-junctions-in-the-hippocampus-and-increases-blood-brain-barrier-permeability
#14
G Hurtado-Alvarado, J Velázquez-Moctezuma, B Gómez-González
Chronic sleep loss in the rat increases blood-brain barrier permeability to Evans blue and FITC-dextrans in almost the whole brain and sleep recovery during short periods restores normal blood-brain barrier permeability. Sleep loss increases vesicle density in hippocampal endothelial cells and decreases tight junction protein expression. However, at the ultrastructural level the effect of chronic sleep loss on interendothelial junctions is unknown. In this study we characterised the ultrastructure of interendothelial junctions in the hippocampus, the expression of tight junction proteins, and quantified blood-brain barrier permeability to fluorescein-sodium after chronic sleep restriction...
May 23, 2017: Journal of Microscopy
https://www.readbyqxmd.com/read/28543373/acss2-gene-variant-associated-with-cleft-lip-and-palate-in-two-independent-hispanic-populations
#15
Sonam Dodhia, Katrina Celis, Alana Aylward, Yi Cai, Maria E Fontana, Alberto Trespalacios, David C Hoffman, Henry Ostos Alfonso, Sidney B Eisig, Gloria H Su, Wendy K Chung, Joseph Haddad
OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28538832/nasalance-scores-of-brazilian-portuguese-speakers-at-5-years-of-age
#16
Débora Natália de Oliveira, Ana Claudia Martins Sampaio-Teixeira, Bianca Gonçalves Alvarenga, Ana Paula Fukushiro, Renata Paciello Yamashita, Inge Elly Kiemle Trindade
Purpose: To determine nasalance scores of Brazilian Portuguese speaking children without evident speech disorders, language delay and orofacial deformities, at age 5 years, and analyze differences between types of speech samples and genders. Methods: Twenty children were analyzed, 11 males, age ranging from 4 years and 10 months to 5 years and 11 months. The Nasometer II 6450 (KayPENTAX) was used for nasalance assessment. Speech samples were eight consonant-vowel syllables and one sequence of nine words...
May 22, 2017: CoDAS
https://www.readbyqxmd.com/read/28538588/reply-not-all-clefts-are-created-equal-patterns-of-hospital-based-care-use-among-children-with-cleft-lip-and-palate-within-4-years-of-initial-surgery
#17
Cassandra A Ligh, Jesse A Taylor
No abstract text is available yet for this article.
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538587/not-all-clefts-are-created-equal-patterns-of-hospital-based-care-use-among-children-with-cleft-lip-and-palate-within-4-years-of-initial-surgery
#18
Camille H A L Guillaume, Esmée van Drie, Corstiaan C Breugem
No abstract text is available yet for this article.
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538580/what-s-new-in-cleft-palate-and-velopharyngeal-dysfunction-management
#19
Sanjay Naran, Matthew Ford, Joseph E Losee
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Have a clear understanding of the evolution of concepts of velopharyngeal dysfunction, especially as it relates to patients with a cleft palate. 2. Explain the subjective and objective evaluation of speech in children with velopharyngeal dysfunction. 3. On the basis of these diagnostic findings, be able to classify types of velopharyngeal dysfunction. 4. Develop a safe, evidence-based, patient-customized treatment plan for velopharyngeal dysfunction founded on objective considerations...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#20
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
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