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https://www.readbyqxmd.com/read/29140903/cleft-related-orthognathic-surgery-based-on-maxillary-vertical-lengthening-of-the-anterior-facial-height
#1
Woo Shik Jeong, Hyung Hwa Jeong, Soon Man Kwon, Kyung S Koh, Jong Woo Choi
BACKGROUND: The conventional approach during orthognathic surgery for cleft-related deformities has largely focused on restoration of maxilla retrusion, using the maxillary advancement as a standard treatment objective. However, we thought the maxillary vertical shortening and deficient incisor show could be the additional key elements of cleft-related deformities. Although slight vertical lengthening can be obtained with only maxillary advancement, it would not be enough to obtain satisfactory aesthetical results in terms of the anterior facial height...
November 11, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29140732/a-rare-form-of-ankyloblepharon-filiforme-adnatum-associated-with-the-hay-wells-syndrome-and-a-c-1709t-c-mutation-on-the-tp63-gene
#2
Michal Koubek, Kristýna Strakošová, Juraj Timkovič, Dagmar Grečmalová, Aneta Orlíková, Hana Burčková, Hana Wiedermannová, Petr Mašek
INTRODUCTION: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. CASE DESCRIPTION: A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29139370/perianal-ulcer-in-an-asian-man
#3
Nilanthy Sharon Anthony Pillai, Choon Chiat Oh, Michelle Chan Mei Fung, Limin Wijaya
A 79-year-old Chinese man presented with a 2-month history of pruritic, tender ulceration covering his perianal region. He was initially treated with oral amoxicillin/clavulanic acid and vancyclovir, with no improvement. His history included hypertension. On physical examination, there was a 1.5-cm solitary, pink shallow ulcer with a tender erythematous base on the right side of the buttock cleft (Figure 1).
2017: Skinmed
https://www.readbyqxmd.com/read/29137155/identification-expression-and-functional-analysis-of-the-fructokinase-gene-family-in-cassava
#4
Yuan Yao, Meng-Ting Geng, Xiao-Hui Wu, Chong Sun, Yun-Lin Wang, Xia Chen, Lu Shang, Xiao-Hua Lu, Zhan Li, Rui-Mei Li, Shao-Ping Fu, Rui-Jun Duan, Jiao Liu, Xin-Wen Hu, Jian-Chun Guo
Fructokinase (FRK) proteins play important roles in catalyzing fructose phosphorylation and participate in the carbohydrate metabolism of storage organs in plants. To investigate the roles of FRKs in cassava tuber root development, seven FRK genes (MeFRK1-7) were identified, and MeFRK1-6 were isolated. Phylogenetic analysis revealed that the MeFRK family genes can be divided into α (MeFRK1, 2, 6, 7) and β (MeFRK3, 4, 5) groups. All the MeFRK proteins have typical conserved regions and substrate binding residues similar to those of the FRKs...
November 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#5
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135737/effect-of-long-term-use-of-facemask-with-miniplate-on-maxillary-protraction-in-patients-with-cleft-lip-and-palate
#6
Sung Woon On, Seung-Hak Baek, Jin-Young Choi
The purpose of this retrospective study was to investigate the effect of a long-term use of facemask with miniplate (FM-MP) on maxillary protraction in cleft lip and palate (CLP) patients. The subjects were 21 CLP patients (16 unilateral CLP and 5 bilateral CLP patients), who were treated with identical lip and palate surgical method and FM-MP therapy performed by single surgeon and single orthodontist. Lateral cephalogram was taken before (T1; mean age, 11.1 years) and after maxillary protraction (T2; mean age, 16...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135735/a-personal-approach-to-bilateral-cleft-lip-repair
#7
William Gerald Austen, Lisa Gfrerer, Michael B Lewis
Dr Michael B. Lewis has been using his personal approach to bilateral cleft lip (BCL) repair for 30 years to achieve a loose, pouting upper lip, a 90-degree columellar-labial angle, and a projecting nasal tip. This article describes technique and results.
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135733/treatment-of-maxillary-hypoplasia-in-cleft-lip-and-palate-segmental-distraction-osteogenesis-with-hyrax-device
#8
Rodrigo Fariña, Alejandro Diaz, Roberto Pantoja, Carolina Bidart
The objective of this work is to describe a segmental maxillary distraction osteogenesis (SDO) with segmental Lefort I with an inexpensive device.Four patients who presented severe class III and maxillary hypoplasia due to cleft lip and palate sequel were treated. A SDO was performed using a dental-anchored Hyrax device, achieving enlargement of the upper jaw without altering speech, with adequate and stable occlusion. Dental implants in a new formed bone were installed.The authors can conclude that SDO is a good treatment alternative for patients with maxillary hypoplasia...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135729/strengthening-evidence-in-cleft-and-craniofacial-surgery
#9
Jordan W Swanson, Marco A Swanson
No abstract text is available yet for this article.
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29135724/alignment-strategy-for-constricted-maxillary-dental-arch-in-patients-with-unilateral-cleft-lip-and-palate-using-fixed-orthodontic-appliance
#10
Yoon-Hee Park, Sumin Park, Seung-Hak Baek
The purpose of this study was to compare the alignment pattern of the constricted maxillary dental arch by fixed orthodontic treatment (FOT) in the well-aligned and constricted arches of unilateral cleft lip and palate (UCLP) patients. 19 UCLP patients were divided into Group 1 (well-aligned arch, n = 9) and Group 2 (constricted arch, n = 10). After the cephalometric and maxillary dental arch variables before (T1) and after FOT (T2) were measured, statistical analysis was performed. There were no significant differences in the surgical timing of cheiloplasty, palatoplasty, and secondary alveolar bone grafting and in the surgical method of cheiloplasty between the 2 groups...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29134786/investigation-of-dominant-and-recessive-inheritance-models-in-gwas-data-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#11
Anne C Böhmer, Lina Gölz, Thomas Kreusch, Franz-Josef Kramer, Bernd Pötzsch, Markus M Nöthen, Andreas Jäger, Elisabeth Mangold, Michael Knapp, Kerstin U Ludwig
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital malformation worldwide, and its etiology involves both genetic and environmental factors. Recent genome-wide and targeted genetic studies of nsCL/P have identified numerous genetic risk loci, under the hypothesis of a multiplicative mode of inheritance. The present study investigated whether novel nsCL/P risk loci could be identified by analyzing dominant/recessive genetic effects in single nucleotide polymorphism (SNP) data from genome-wide association studies...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133017/rpb5-modulates-the-rna-polymerase-ii-transition-from-initiation-to-elongation-by-influencing-spt5-association-and-backtracking
#12
Verónica Martínez-Fernández, Ana Isabel Garrido-Godino, María Carmen Mirón-García, Victoria Begley, Antonio Fernández-Pévida, Jesús de la Cruz, Sebastián Chávez, Francisco Navarro
Rpb5 is a subunit shared by the three eukaryotic RNA polymerases although its role in transcription remains unclear. It has been proposed that it makes contact with the promoter DNA and to participate in the co-ordination of the opening/closing of the RNA polymerase II DNA cleft. Here, we report the specific role of Rpb5 in the function of the yeast RNA polymerase II. The rpb5-P151T mutation specifically impairs transcription elongation by RNA polymerase II but does not influence the functions of RNA polymerases I or III...
November 10, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#13
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
November 13, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#14
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129711/fermeture-d-une-communication-bucco-nasale-par-double-lambeau-palatin-de-translation-double-palatal-flap-for-oro-nasal-fistula-closure
#15
P Pouzoulet, N Graillon, L Guyot, Chossegros C, J M Foletti
INTRODUCTION: The management of oral fistula to the nose depends on its etiology, its size and its location. Here we describe a simple technique, inspired by the ones initially developed by Bardach for cleft palates repair. The surgical alternatives are discussed. TECHNICAL NOTE: The double palatal flap is a simple technique, allowing closure in a single session of a central or centro-lateral palate fistula. The key of this technique is the dissection between nasal and palate mucous layers, providing a sufficient amount of laxity to close the defect without tension...
November 9, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29129703/identification-of-novel-mitochondrial-localization-signals-in-human-tafazzin-the-cause-of-the-inherited-cardiomyopathic-disorder-barth-syndrome
#16
Ana A Dinca, Wei-Ming Chien, Michael T Chin
Mutations in the gene tafazzin (TAZ) result in Barth syndrome (BTHS). Patients present with hypotonia, cyclic neutropenia, 3-methyglutaconic aciduria, and cardiomyopathy, which is the major cause of mortality. The recessive, X-linked TAZ gene encodes a mitochondrial membrane-associated phospholipid modifying enzyme, which adds unsaturated fatty acid species to monolysocardiolipin to generate mature cardiolipin in the mitochondrial membrane that is essential for mitochondrial morphology and function. To identify intrinsic mitochondrial localization sequences in the human TAZ protein, we made sequential TAZ peptide-eGFP fusion protein expression constructs and analyzed the localization of eGFP fluorescence by confocal microscopy...
November 9, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29128314/early-changes-in-m2-muscarinic-acetylcholine-receptors-machrs-induced-by-sarin-intoxication-may-be-linked-to-long-lasting-neurological-effects
#17
Zipora Pittel, Shlomi Lazar, Rellie Gez, Shira Chapman
The effect of sarin on the binding parameters (KD & Bmax) of M2 muscarinic acetylcholine receptor (mAChR) was studied 24h and 1 week post exposure. Male & female Sprague-Daweley rats were poisoned with 1XLD50 sarin (80μg/kg, im) followed by treatment of trimedoxime bromide and atropine (7.5:5mg/kg, im) 1min later. Brains were removed and analyzed for M2 mAChR binding, using [(3)H]AFDX384, an M2 selective antagonist. A significant increase in KD of M2 mAChR was found in the cortex 24h post poisoning, displaying elevation from 4...
November 8, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/29125959/proximity-labeling-spatially-resolved-proteomic-mapping-for-neurobiology
#18
REVIEW
Shuo Han, Jiefu Li, Alice Y Ting
Understanding signaling pathways in neuroscience requires high-resolution maps of the underlying protein networks. Proximity-dependent biotinylation with engineered enzymes, in combination with mass spectrometry-based quantitative proteomics, has emerged as a powerful method to dissect molecular interactions and the localizations of endogenous proteins. Recent applications to neuroscience have provided insights into the composition of sub-synaptic structures, including the synaptic cleft and inhibitory post-synaptic density...
November 7, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29125933/can-use-of-rigid-fixation-after-consolidation-benefit-cleft-patients-following-distraction-osteogenesis
#19
Reza Tabrizi, Kemal Tumer, Shervin Shafiei, Ashkan Rashad
PURPOSE: The stability of distraction osteogenesis (DO) is an important issue in maxillary advancement for patients with cleft lip and palate (CLP). The aim of this study was to evaluate postoperative stability in patients with and without internal fixation after removing maxillary distraction devices. MATERIALS AND METHODS: This randomized clinical trial assessed patients with CLP who needed maxillary advancement greater than 6 mm; they were randomly assigned to 1 of 2 groups...
October 16, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29125932/pathogenesis-of-cleft-palate-in-robin-sequence-observations-from-prenatal-magnetic-resonance-imaging
#20
Cory M Resnick, Judy A Estroff, Tessa D Kooiman, Carly E Calabrese, Maarten J Koudstaal, Bonnie L Padwa
PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017...
October 16, 2017: Journal of Oral and Maxillofacial Surgery
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