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Pierre Robin Syndrome

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https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#1
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 the 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...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28109641/three-dimensional-airways-volumetric-analysis-before-and-after-fast-and-early-mandibular-osteodistraction
#2
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...
December 18, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28096091/use-of-hematopoietic-cell-transplantation-for-patients-with-myelodysplastic-syndrome-and-chronic-myelomonocytic-leukemia
#3
Theo de Witte, David Bowen, Marie Robin, Luca Malcovati, Dietger Niederwieser, Ibrahim Yakoub-Agha, Ghulam J Mufti, Pierre Fenaux, Guillermo Sanz, Rodrigo Martino, Emilio Paolo Alessandrino, Francesco Onida, Argiris Symeonidis, Jakob Passweg, Guido Kobbe, Arnold Ganser, Uwe Platzbecker, Jürgen Finke, Michel van Gelder, Arjan A van de Loosdrecht, Per Ljungman, Reinhard Stauder, Liisa Volin, H Joachim Deeg, Corey Cutler, Wael Saber, Richard Champlin, Sergio Giralt, Claudio Anasetti, Nicolaus Kröger
No abstract text is available yet for this article.
January 17, 2017: Blood
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#4
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
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#5
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28027184/piezosurgery-an-asset-in-treatment-of-pierre-robin-sequence
#6
Divya Singh, Pushkar Gadre, Kiran Gadre, Shandilya Ramanojam
Pierre Robin sequence (formerly a syndrome) is named after the French stomatologist who, in 1923 and 1934, described the problems associated with micrognathia in newborn. It comprises mandibular micrognathia, U-shaped cleft palate, and glossoptosis. The typical symptoms are hypoxaemia, noisy breathing, snoring, stridor, cyanosis, bradycardia, feeding difficulties, and failure to thrive. Distraction osteogenesis has recently been considered as a surgical option for early intervention to lengthen the mandible and relieve respiratory problems...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#7
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/27904236/influence-of-exercise-on-patients-with-guillain-barr%C3%A3-syndrome-a-systematic-review
#8
Nicholas Simatos Arsenault, Pierre-Olivier Vincent, Bai He Shen Yu, Robin Bastien, Aaron Sweeney
Purpose: To evaluate the effects of exercise interventions on improving physical outcomes in patients with Guillain-Barré syndrome (GBS). Methods: The PubMed database was searched for articles published up to and including February 2015. Randomized controlled trials (RCTs), case reports, and quasi-experimental and single-subject designs published in English-language, peer-reviewed journals that assessed the impact of physical exercise on patients with GBS were included; study quality was assessed using Sackett's rules of evidence...
2016: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/27748028/a-chinese-patient-with-toriello-carey-syndrome-and-an-interstitial-deletion-of-3q
#9
Lulu Xie, Xianqiong Luo, Jie Yang, Junping Wang, Chuan Nie, Zhu Wang
Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T-CS is unknown, although there have been reports of patients with a clinical diagnosis of T-CS and a chromosome anomaly...
October 17, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27729133/does-canal-wall-down-mastoidectomy-benefit-syndromic-children-with-congenital-aural-stenosis
#10
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27723379/a-case-report-of-absent-epiglottis-in-children-with-nager-syndrome-its-impact-on-swallowing
#11
Sok Yan Tay, Woei Shyang Loh, Thiam Chye Lim
OBJECTIVE:   This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Nager syndrome has previously been described in children with Pierre Robin sequence and other syndromes. CONCLUSION:   The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries...
October 10, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27720995/allogeneic-stem-cell-transplantation-for-patients-age-%C3%A2-70-years-with-myelodysplastic-syndrome-a-retrospective-study-of-the-mds-subcommittee-of-the-chronic-malignancies-working-party-of-the-ebmt
#12
Silke Heidenreich, Dimitris Ziagkos, Liesbeth C de Wreede, Anja van Biezen, Jürgen Finke, Uwe Platzbecker, Dietger Niederwieser, Hermann Einsele, Wolfgang Bethge, Michael Schleuning, Dietrich W Beelen, Johanna Tischer, Arnon Nagler, Bertram Glass, Johan Maertens, Lucrecia Yáñez, Yves Beguin, Heinz Sill, Christof Scheid, Matthias Stelljes, Arnold Ganser, Pierre Zachée, Dominik Selleslag, Theo de Witte, Marie Robin, Nicolaus Kröger
In this retrospective analysis we evaluated the outcome of 313 patients aged ≥ 70 years in the registry of the European Group for Blood and Marrow Transplantation with myelodysplastic syndrome (MDS; n = 221) and secondary acute myeloid leukemia (n = 92) who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from related (n = 79) or unrelated (n = 234) donors. Median age at HSCT was 72 years (range, 70 to 78). Conditioning regimen was nonmyeloablative (n = 54), reduced intensity (n = 207), or standard intensity (n = 52)...
January 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#13
REVIEW
Howard M Saal
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management...
November 2016: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/27693052/prehospital-and-in-hospital-course-of-care-for-patients-with-acute-heart-failure-features-and-impact-on-prognosis-in-real-life
#14
Laura Cluzol, Jennifer Cautela, Pierre Michelet, Antoine Roch, François Kerbaul, Julien Mancini, Marc Laine, Michael Peyrol, Floriane Robin, Franck Paganelli, Laurent Bonello, Franck Thuny
BACKGROUND: Acute heart failure (AHF) is a life-threatening medical emergency for which no new effective therapies have emerged in recent decades. No previous study has exhaustively described the entire course of care of AHF patients from first medical contact to hospital discharge or assessed its impact on prognosis. AIM: To fully describe the course of care and analyze its influence on outcomes in patients hospitalized with an AHF syndrome in an academic university center...
September 29, 2016: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/27563606/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-4-recommended-management-and-treatment-of-pierre-robin-sequence-and-its-application
#15
Kurt-W Bütow, Sharan Naidoo, Roger Arthur Zwahlen, Jean A Morkel
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563605/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-3-prevailing-controversial-theories-related-to-pierre-robin-sequence
#16
Kurt-W Bütow, Roger Arthur Zwahlen, Jean A Morkel, Sharan Naidoo
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563604/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-2-syndromic-and-nonsyndromic-pierre-robin-sequence
#17
Kurt-W Bütow, Jean A Morkel, Sharan Naidoo, Roger Arthur Zwahlen
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563603/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-1-history-subdivisions-and-data
#18
Kurt-W Bütow, Roger Arthur Zwahlen, Jean A Morkel, Sharan Naidoo
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27549381/braddock-carey-syndrome-a-21q22-contiguous-gene-syndrome-encompassing-runx1
#19
Stephen R Braddock, Sarah T South, Joshua D Schiffman, Maria Longhurst, Leslie R Rowe, John C Carey
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27510950/update-on-the-toriello-carey-syndrome
#20
Helga V Toriello, Chelsey Colley, Michael Bamshad
Toriello and Carey described a provisionally-unique syndrome comprised of agenesis of the corpus callosum, Pierre Robin anomaly, and a characteristic facial phenotype. Because the condition affected siblings, this entity was postulated to be an autosomal recessive multiple anomaly syndrome. Several patients were subsequently reported, and over time, it became apparent that the Toriello-Carey syndrome was etiologically heterogeneous. Based on previous reports, it is estimated that at least 20% of patients with a clinical diagnosis of Toriello-Carey syndrome have a chromosomal anomaly as the basis of the phenotype...
October 2016: American Journal of Medical Genetics. Part A
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