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Pierre Robin Sequence

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https://www.readbyqxmd.com/read/28822675/precise-osteotomies-for-mandibular-distraction-in-infants-with-robin-sequence-using-virtual-surgical-planning
#1
C M Resnick
Mandibular distraction osteogenesis (MDO) has become the first-line operation in many centers for the management of obstructive sleep apnea (OSA) in infants with (Pierre) Robin sequence (RS) not relieved by non-surgical approaches. Preoperative virtual surgical planning (VSP) may improve precision and decrease complications for this operation. This article reports a retrospective study of RS infants who underwent MDO for OSA using preoperative VSP and three-dimensionally printed cutting guides performed by one surgeon...
August 16, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28802380/can-telemetry-data-obviate-the-need-for-sleep-studies-in-pierre-robin-sequence
#2
Nicole Leigh Aaronson, Noel Jabbour
OBJECTIVE: This study looks to correlate telemetry data gathered on patients with Pierre Robin Sequence (PRS) with sleep study data. Strong correlation might allow obstructive sleep apnea (OSA) to be reasonably predicted without the need for sleep study. METHODS: Charts from forty-six infants with PRS who presented to our children's hospital between 2005 and 2015 and received a polysomnogram (PSG) prior to surgical intervention were retrospectively reviewed. Correlations and scatterplots were used to compare average daily oxygen nadir, overall oxygen nadir, and average number of daily desaturations from telemetry data with apnea-hypopnea index (AHI) and oxygen nadir on sleep study...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28713745/recovering-breathing-and-feeding-of-a-newborn-with-pierre-robin-sequence
#3
Francisnele Maria de Aquino Fraporti Tomáz, Alvaro Henrique Borges, Alexandre Meireles Borba, Luiz Evaristo Ricci Volpato
Pierre Robin sequence (PRS) is characterized by the triad micrognathia, glossoptosis, and airway obstruction, commonly associated with cleft palate. This study reports the case of a patient with characteristics consistent with the diagnosis of PRS in the 1(st) week of life. To stabilize the airway, oro-tracheal intubation was performed without success, followed by tracheostomy and glossopexy and after a small improvement in symptoms, it was decided to perform the mandibular distraction osteogenesis (MDO). At the age of 6, her maxillofacial development was within expectations, with patent airway, the presence of deciduous teeth, and without neurological impairment...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#4
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28686690/shifts-in-the-bacterial-community-composition-along-deep-soil-profiles-in-monospecific-and-mixed-stands-of-eucalyptus-grandis-and-acacia-mangium
#5
Arthur Prudêncio de Araujo Pereira, Pedro Avelino Maia de Andrade, Daniel Bini, Ademir Durrer, Agnès Robin, Jean Pierre Bouillet, Fernando Dini Andreote, Elke Jurandy Bran Nogueira Cardoso
Our knowledge of the rhizosphere bacterial communities in deep soils and the role of Eucalyptus and Acacia on the structure of these communities remains very limited. In this study, we targeted the bacterial community along a depth profile (0 to 800 cm) and compared community structure in monospecific or mixed plantations of Acacia mangium and Eucalyptus grandis. We applied quantitative PCR (qPCR) and sequence the V6 region of the 16S rRNA gene to characterize composition of bacterial communities. We identified a decrease in bacterial abundance with soil depth, and differences in community patterns between monospecific and mixed cultivations...
2017: PloS One
https://www.readbyqxmd.com/read/28685753/nucleolin-directly-mediates-epstein-barr-virus-immune-evasion-through-binding-to-g-quadruplexes-of-ebna1-mrna
#6
María José Lista, Rodrigo Prado Martins, Olivier Billant, Marie-Astrid Contesse, Sarah Findakly, Pierre Pochard, Chrysoula Daskalogianni, Claire Beauvineau, Corinne Guetta, Christophe Jamin, Marie-Paule Teulade-Fichou, Robin Fåhraeus, Cécile Voisset, Marc Blondel
The oncogenic Epstein-Barr virus (EBV) evades the immune system but has an Achilles heel: its genome maintenance protein EBNA1, which is essential for viral genome maintenance but highly antigenic. EBV has seemingly evolved a system in which the mRNA sequence encoding the glycine-alanine repeats (GAr) of the EBNA1 protein limits its expression to the minimal level necessary for function while minimizing immune recognition. Here, we identify nucleolin (NCL) as a host factor required for this process via a direct interaction with G-quadruplexes formed in GAr-encoding mRNA sequence...
July 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#7
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28449865/flexible-feeding-obturator-for-early-intervention-in-infants-with-pierre-robin-sequence
#8
Ruta Jadhav, Santosh Nelogi, Sounyala Rayannavar, Raghunath Patil
Pierre Robin sequence presents with distinct features of retrognathia and glossoptosis with or without cleft palate, which results in potentially serious, life-threatening respiratory obstruction and feeding complications. A multidisciplinary approach is required to manage such complex features. This article describes a novel technique for managing Pierre Robin sequence using a flexible feeding obturator. This custom-made intraoral appliance overcomes numerous problems associated with the available feeding obturators and helps infants and parents cope with a variety of difficulties...
April 25, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28424158/generation-of-a-multipurpose-prdm16-mouse-allele-by-targeted-gene-trapping
#9
Alexander Strassman, Frank Schnütgen, Qi Dai, Jennifer C Jones, Angela C Gomez, Lenore Pitstick, Nathan E Holton, Russell Moskal, Erin R Leslie, Harald von Melchner, David R Beier, Bryan C Bjork
Gene trap mutagenesis is a powerful tool to create loss-of-function mutations in mice and other model organisms. Modifications of traditional gene trap cassettes, including addition of conditional features in the form of Flip-excision (FlEx) arrays to enable directional gene trap cassette inversions by Cre and Flpe site-specific recombinases, greatly enhanced their experimental potential. By taking advantage of these conditional gene trap cassettes, we developed a generic strategy for generating conditional mutations and validated this strategy in mice carrying a multipurpose allele of the Prdm16 transcription factor gene...
July 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#10
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28418932/bmpr1b-mutation-causes-pierre-robin-sequence
#11
Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo, Liu Zhao, Ming Tu, Yimin Zhu
BACKGROUND: We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY: This study aims to determine the genetic cause of PRS. RESULTS: The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28372992/the-effects-of-clinical-factors-on-airway-outcomes-of-mandibular-distraction-osteogenesis-in-children-with-pierre-robin-sequence
#12
REVIEW
X C Ren, Z W Gao, Y F Li, Y Liu, B Ye, S S Zhu
Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in children with severe Pierre Robin sequence. An investigation was performed to determine whether certain clinical factors influence the airway outcomes of MDO. A literature search of several databases was performed to identify studies providing individual patient data. Data extracted from the studies included patient sex, age at distraction, disease type, experience of any previous surgery on the airway, length of distraction, pre- and postoperative blood oxygen saturation nadir, and osteotomy design...
July 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28350680/airway-and-feeding-outcomes-of-mandibular-distraction-tongue-lip-adhesion-and-conservative-management-in-pierre-robin-sequence-a-prospective-study
#13
Ibrahim Khansa, Courtney Hall, Lauren L Madhoun, Mark Splaingard, Adriane Baylis, Richard E Kirschner, Gregory D Pearson
BACKGROUND: Pierre Robin sequence is characterized by mandibular retrognathia and glossoptosis resulting in airway obstruction and feeding difficulties. When conservative management fails, mandibular distraction osteogenesis or tongue-lip adhesion may be required to avoid tracheostomy. The authors' goal was to prospectively evaluate the airway and feeding outcomes of their comprehensive approach to Pierre Robin sequence, which includes conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#14
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28288578/case-report-of-pierre-robin-sequence-with-severe-upper-airway-obstruction-who-was-rescued-by-fiberoptic-nasotracheal-intubation
#15
Satoru Takeshita, Hiroko Ueda, Tatenobu Goto, Daisuke Muto, Hiroki Kakita, Kazuo Oshima, Takahisa Tainaka, Takayuki Ono, Yoshiaki Kazaoka, Yasumasa Yamada
BACKGROUND: Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CASE PRESENTATION: The patient in case 1 had micrognathia and cleft palate, and his tongue protruded into the nasal cavity via a cleft palate...
March 14, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28197218/polysomnographic-findings-in-infants-with-pierre-robin-sequence
#16
Abdullah Khayat, Saadoun Bin-Hassan, Suhail Al-Saleh
INTRODUCTION: Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft palate. Infants with PRS commonly have sleep-disordered breathing (SDB); including obstructive sleep apnea (OSA) as well as central sleep breathing abnormalities that are present from infancy. AIM OF THE STUDY: Evaluate the prevalence and severity of SDB in infants with PRS using polysomnography (PSG)...
January 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28193305/tongue-lip-adhesion-and-tongue-repositioning-for-obstructive-sleep-apnoea-in-pierre-robin-sequence-a-systematic-review-and-meta-analysis
#17
REVIEW
M Camacho, M W Noller, S Zaghi, L K Reckley, C Fernandez-Salvador, E Ho, B Dunn, D K Chan
OBJECTIVE: To search for studies on tongue-lip adhesion and tongue repositioning used as isolated treatments for obstructive sleep apnoea in children with Pierre Robin sequence. METHODS: A systematic literature search of PubMed/Medline and three additional databases, from inception through to 8 July 2016, was performed by two authors. RESULTS: Seven studies with 90 patients (59 tongue-lip adhesion and 31 tongue repositioning patients) met the inclusion criteria...
May 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#18
Patrick M A Sleiman, Michael March, Kenny Nguyen, Lifeng Tian, Renata Pellegrino, Cuiping Hou, Walid Dridi, Mohamed Sager, Yousef H Housawi, Hakon Hakonarson
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well-established cause of microcephaly. To our knowledge, KIF15 is the first kinesin to be associated with congenital thrombocytopenia...
May 2017: Human Mutation
https://www.readbyqxmd.com/read/28109641/three-dimensional-airways-volumetric-analysis-before-and-after-fast-and-early-mandibular-osteodistraction
#19
Valerio Ramieri, Emanuela Basile, Giulio Bosco, Elena Caresta, Paola Papoff, Piero Cascone
PURPOSE: Newborns with Pierre Robin sequence (PRS) and syndromic micrognathia show microgenia and glossoptosis, which cause reduction of the airway and breathing difficulty from birth. Our goal is to analyze quantitative and qualitative volumetric changes before and after fast and early mandibular osteodistraction (FEMOD) and to compare radiological data. METHODS: The sample was composed of 4 patients, who satisfied inclusion criteria for completeness of data. Computed tomography pre- and post-operation were performed, then a volumetric assessment was made with Dolphin Imaging...
March 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#20
Zhong-Lin Jia, Sha He, Shu-Yuan Jiang, Bi-He Zhang, Shi-Jun Duan, Jia-Yu Shi, Ning Huang, Wen-Chao Zhu, Bing Shi
OBJECTIVE: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). However, its role in non-syndromic clefts remains unknown. DESIGN: In this study, we selected eight SNPs in and around SOX9 gene to make maximum coverage, and genotyped them by using RFLP-PCR and ligase detection reaction (LDR) methods to test its associations among 151 NSOCs (53 NSCLP, 52 NSCLO and 46 NSCPO) from Western Han Chinese population...
December 30, 2016: Archives of Oral Biology
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