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https://www.readbyqxmd.com/read/28817360/closing-the-gap-mouse-models-to-study-adhesion-in-secondary-palatogenesis
#1
K J Lough, K M Byrd, D C Spitzer, S E Williams
Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817352/arhgap29-mutation-is-associated-with-abnormal-oral-epithelial-adhesions
#2
B J Paul, K Palmer, J C Sharp, C H Pratt, S A Murray, M Dunnwald
Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth defect of complex etiology. Previous studies identified mutations in ARHGAP29 associated with an increased risk for NSCL/P. To investigate the effects of ARHGAP29 in vivo, we generated a novel murine allele by inserting a point mutation identified in a patient with NSCL/P. This single-nucleotide variation of ARHGAP29 translates to an early nonsense mutation (K326X), presumably resulting in loss-of-function (LoF). Embryos from Arhgap29(K326X/+) intercrosses were harvested at various time points...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#3
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813183/quality-of-life-in-children-with-orofacial-clefts-and-caregiver-well-being
#4
L Sischo, M Wilson-Genderson, H L Broder
Quality of life is a valid patient-reported parameter that provides an assessment of treatment need or outcomes complementary to standard clinical measures. Such patient-reported assessments are particularly salient when examining chronic conditions with prolonged treatment trajectories, such as cleft lip and palate. This critical review identifies key questions related to ongoing research on the oral health-related quality of life (OHRQoL) in children with cleft and caregiver well-being. Details of the design and results from 2 longitudinal multicenter studies are presented...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28813171/anti-edar-agonist-antibody-therapy-resolves-palate-defects-in-pax9-mice
#5
S Jia, J Zhou, Y Wee, M L Mikkola, P Schneider, R N D'Souza
To date, surgical interventions are the only means by which craniofacial anomalies can be corrected so that function, esthetics, and the sense of well-being are restored in affected individuals. Unfortunately, for patients with cleft palate-one of the most common of congenital birth defects-treatment following surgery is prolonged over a lifetime and often involves multidisciplinary regimens. Hence, there is a need to understand the molecular pathways that control palatogenesis and to translate such information for the development of noninvasive therapies that can either prevent or correct cleft palates in humans...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28810649/effect-of-dexmedetomidine-combined-with-sufentanil-on-preventing-emergence-agitation-in-children-receiving-sevoflurane-anesthesia-for-cleft-palate-repair-surgery
#6
Ke Luo, Jun-Mei Xu, Lin Cao, Ju Gao
The aim of the present study was to observe whether dexmedetomidine (DEX) combined with sufentanil decreased emergence agitation (EA) in children receiving sevoflurane anesthesia for cleft palate repair surgery. Children undergoing elective cleft palate repair surgery were randomly allocated into the DEX + sufentanil group (group DS; n=50) and the normal saline + fentanyl group (group SF; n=50). Patients in group DS were treated with 0.5 µg/kg DEX prior to induction of anesthesia, whereas patients in group SF received an equal volume of normal saline...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28808036/reducing-posttreatment-relapse-in-cleft-lip-palatal-expansion-using-an-injectable-estrogen-nanodiamond-hydrogel
#7
Christine Hong, Dayoung Song, Dong-Keun Lee, Lawrence Lin, Hsin Chuan Pan, Deborah Lee, Peng Deng, Zhenqing Liu, Danny Hadaya, Hye-Lim Lee, Abdulaziz Mohammad, Xinli Zhang, Min Lee, Cun-Yu Wang, Dean Ho
Patients with cleft lip and/or palate (CLP), who undergo numerous medical interventions from infancy, can suffer from lifelong debilitation caused by underdeveloped maxillae. Conventional treatment approaches use maxillary expansion techniques to develop normal speech, achieve functional occlusion for nutrition intake, and improve esthetics. However, as patients with CLP congenitally lack bone in the cleft site with diminished capacity for bone formation in the expanded palate, more than 80% of the patient population experiences significant postexpansion relapse...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28806379/evaluation-of-protraction-face-mask-therapy-on-the-craniofacial-and-upper-airway-morphology-in-unilateral-cleft-lip-and-palate
#8
Defne Keçik
INTRODUCTION: The aim of the authors' study was to evaluate the effects of protraction face-mask therapy on the craniofacial and upper airway morphology in patients with unilateral cleft lip and palate (UCLP). METHODS: Twenty-three growing UCLP patients (mean age: 8.3 + 2.4) were enrolled in the study group. Protraction face-mask in combination with Hyrax appliance was applied for the correction of anterior crossbite and maxillary insufficiency. Twenty-six patients with maxillary retrusion (mean age: 8...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28803895/periderm-life-cycle-and-function-during-orofacial-and-epidermal-development
#9
REVIEW
Nigel L Hammond, Jill Dixon, Michael J Dixon
Development of the secondary palate involves a complex series of embryonic events which, if disrupted, result in the common congenital anomaly cleft palate. The secondary palate forms from paired palatal shelves which grow initially vertically before elevating to a horizontal position above the tongue and fusing together in the midline via the medial edge epithelia. As the epithelia of the vertical palatal shelves are in contact with the mandibular and lingual epithelia, pathological fusions between the palate and the mandible and/or the tongue must be prevented...
August 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28802394/assessment-of-complete-unilateral-cleft-lip-and-palate-treatment-outcome-using-eurocran-index-and-associated-factors
#10
Anas Imran Arshad, Mohammad Khursheed Alam, Mohd Fadhli Khamis
OBJECTIVES: Assessment of treatment outcome is the only non-invasive approach to identify the effects of cleft lip and palate repair and modify management accordingly. Here the aim is to assess the outcome of complete unilateral cleft lip and palate (CUCLP) patients using EUROCRAN index and to check whether there are any factors associated with the treatment outcome. MATERIALS AND METHODS: It is a retrospective cross sectional study. Dental models were collected from archives of two cleft referral centers in Pakistan...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802381/diagnosing-subtle-palatal-anomalies-validation-of-video-analysis-and-assessment-protocol-for-diagnosing-occult-submucous-cleft-palate
#11
Ryan Rourke, Seth M Weinberg, Mary L Marazita, Noel Jabbour
INTRODUCTION: Submucous cleft palate (SMCP) classically involves bifid uvula, zona pellucida, and notched hard palate. However, patients may present with more subtle anatomic abnormalities. The ability to detect these abnormalities is important for surgeons managing velopharyngeal dysfunction (VPD) or considering adenoidectomy. OBJECTIVES: Validate an assessment protocol for diagnosis of occult submucous cleft palate (OSMCP) and identify physical examination features present in patients with OSMCP in the relaxed and activated palate positions...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802359/transmission-analysis-of-tgfb1-gene-polymorphisms-in-non-syndromic-cleft-lip-with-or-without-cleft-palate
#12
Ginila T Raju, Bhaskar V K S Lakkakula, Jyotsna Murthy, Munirajan Arasambattu Kannan, Solomon F D Paul
OBJECTIVES: Transforming growth factor beta1 (TGF-β1) plays a significant role in craniofacial development. Previous linkage studies reported that the TGF-β1-locus at 19q13.1 harbour predisposing genes for non-syndromic oral clefts. In the present study case parents triads were evaluated to find the transmission effects of genetic variants in TGF- β1 towards non-syndromic cleft lip or palate (NSCL/P). METHODS: Using allelic discrimination method148 families (case-parent triads) were assessed for single nucleotide polymorphisms (SNPs) in TGF-β1 gene...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796987/evaluation-of-periodontal-tissues-in-growing-patients-with-bilateral-cleft-lip-and-palate-a-pilot-study
#13
Beata Wyrębek, Dorota Cudziło, Paweł Plakwicz
AIM: To evaluate the periodontal status, mucogingival parameters and oral hygiene in growing patients with bilateral cleft lip and palate. MATERIAL AND METHODS: Assessment was performed in 15 patients aged 6 to 18 years with a bilateral cleft. Records included probing pocket depth, clinical attachment level, keratinized gingiva, recession, vestibule depth, biotype, type of fraena, dental plaque and bleeding. RESULTS: The mean scores of pocket depth were: 1...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#14
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28791817/binder-syndrome-clinical-findings-and-surgical-treatment-of-18-patients-at-the-department-of-plastic-surgery-in-polanica-zdr%C3%A3-j
#15
Piotr H Drozdowski, Ireneusz Łątkowski, Mateusz G Zachara, Piotr Wójcicki
BACKGROUND: Binder syndrome (BS) is an uncommon congenital underdevelopment of the maxilla and nasal skeleton. Other clinical features include a hypoplastic or absent anterior nasal spine; a short, flat nose with short columella; an acute nasolabial angle; a convex upper lip and class III malocclusion. OBJECTIVES: The aim of the study was to outline the major characteristics of BS and to present a variety of surgical treatment methods. MATERIAL AND METHODS: The study included 18 patients treated in the authors' department from 1989 to 2013...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#16
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28783887/hyperbaric-oxygen-therapy-for-wound-breakdown-after-oronasal-fistula-and-cleft-palate-repair-four-cases
#17
C Lane Anzalone, Cara C Cockerill, Shelagh A Cofer
We offer the first report of hyperbaric oxygen (HBO₂) therapy to treat early surgical wound breakdown after oronasal fistula and cleft palate repair in the pediatric population. We present four patients' experiences after undergoing HBO₂ therapy. HBO₂ was initiated as soon as an oronasal fistula was identified. Three of the children underwent 10 HBO₂ treatments with the fourth undergoing 11 treatments. There were no adverse effects during treatment; none of the patients required decompressive myringotomy...
July 2017: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#18
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#19
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#20
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
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