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Pierre Robin Syndrome

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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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)...
October 5, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27510883/-sleep-disordered-breathing-in-the-pierre-robin-syndrome-children
#15
J Lin, X H Cai, J Cai
No abstract text is available yet for this article.
August 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27438445/cervical-instability-in-pierre-robin-sequence-an-addition-to-the-algorithm
#16
Rebecca M Barr, Sabina A Khan, Manish N Shah, Soham Roy, John F Teichgraeber, Matthew R Greives
Many patients with Pierre Robin sequence (PRS) have associated birth defects, most commonly in association with abnormalities in bone or cartilage formation. Depending on severity, treatment of PRS ranges from nonoperative management with prone positioning to surgical intervention such as distraction osteogenesis. Generally, if a surgical approach is needed, these patients undergo nasal endoscopy or direct laryngoscopy with their intubation, which puts the cervical spine in a position of extreme extension. The authors present a patient with syndromic PRS secondary to Sticklers syndrome, with a cervical abnormality diagnosed with three-dimensional computed tomography and further evaluated with dynamic lateral plain x-rays to assess cervical instability...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27366452/management-of-the-difficult-paediatric-airway-with-a-simple-fiberoptic-assisted-laryngoscope-a-report-of-two-cases-with-pierre-robin-and-patau-s-trisomy-13-syndrome
#17
Alper Kılıçaslan, Atilla Erol, Ahmet Topal, Tayfun Et, Şeref Otelcioğlu
Airway management of children with congenital craniofacial anomalies is a challenge for paediatric anaesthesiologists. We do not have any video-assisted airway device in our department for difficult paediatric intubations. We decided to attach a regular fiberoptic (outer diameter; 3.7 mm, Karl Storz, Germany) scope to a conventional Macintosh Laryngoscope (size 1). We describe two cases of Pierre Robin and Patau's (Trisomy 13) syndrome successfully intubated with a fiberoptic-assisted laryngoscope (FOL). A fiberoptic scope and any size of a laryngoscope blade can be easily assembled in the operating room...
December 2014: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27286923/two-male-sibs-with-severe-micrognathia-and-a-missense-variant-in-med12
#18
Trine E Prescott, Mari Ann Kulseth, Ketil R Heimdal, Barbro Stadheim, Einar Hopp, Tomasz Gambin, Zeynep H Coban Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Asbjørg Stray-Pedersen
Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and X-linked Ohdo syndrome. We report a family with two severely micrognathic male sibs, a 10½ year old boy and a fetus, in which hemizygosity for a previously unreported missense variant in exon 13 of MED12 (NM_005120.2), c.1862G > A, p.(Arg621Gln) was detected by whole exome sequencing...
August 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27240511/feeding-and-reflux-in-children-after-mandibular-distraction-osteogenesis-for-micrognathia-a-systematic-review
#19
REVIEW
Omar Breik, Kandiah Umapathysivam, David Tivey, Peter Anderson
UNLABELLED: Mandibular distraction osteogenesis (MDO) is becoming increasingly more commonly used as in neonates and infants with upper airway obstruction secondary to micrognathia. A significant number of these children are dependent on nasoenteric feeding or gastrostomies after birth for adequate nutrition and often suffer from gastro-esophageal reflux (GERD). OBJECTIVE: This analysis is a subset of a larger systematic review. The objective of this study is to determine the effects of MDO on feeding and GERD...
June 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27232676/temporomandibular-joint-ankylosis-as-part-of-the-clinical-spectrum-of-carey-fineman-ziter-syndrome
#20
Martina Pasetti, Fabio Mazzoleni, Giorgio Novelli, Maria Iascone, Alberto Bozzetti, Angelo Selicorni
The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene...
August 2016: American Journal of Medical Genetics. Part A
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