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https://www.readbyqxmd.com/read/28141652/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#1
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28141641/long-term-evaluation-of-mandibular-growth-in-children-with-fgfr2-mutations
#2
John C Kolar, Kanlaya Ditthakasem, Jeffrey A Fearon
BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28123344/deformed-skull-morphology-is-caused-by-the-combined-effects-of-the-maldevelopment-of-calvarias-cranial-base-and-brain-in-fgfr2-p253r-mice-mimicking-human-apert-syndrome
#3
Fengtao Luo, Yangli Xie, Wei Xu, Junlan Huang, Siru Zhou, Zuqiang Wang, Xiaoqing Luo, Mi Liu, Lin Chen, Xiaolan Du
Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2(+/P253R-Neo) mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#4
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#5
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27753022/implementing-non-invasive-prenatal-diagnosis-nipd-in-a-national-health-service-laboratory-from-dominant-to-recessive-disorders
#6
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27740959/surgical-strategies-for-soft-tissue-management-in-hypertelorbitism
#7
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27692993/-craniofacial-strategy-for-syndromic-craniosynostosis
#8
E Arnaud, G Paternoster, S James, M-P Morisseau-Durand, V Couloigner, P Diner, C Tomat, V Viot-Blanc, B Fauroux, V Cormier-Daire, G Baujat, M Robert, A Picard, S Antunez, R Khonsari, L Pamphile-Tabuteau, C Legros, M Zerah, P Meyer
The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment...
October 2016: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27646570/ep01-09-the-role-of%C3%A2-2d-and-3d-ultrasound-in-the-prenatal-diagnosis-of-apert-syndrome
#9
C H Mulcahy, B Cathcart, F McAuliffe, P Mc Parland
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27644546/ep02-05-prenatal-diagnosis-of-apert-syndrome
#10
I Mendilcioglu, B Nur, C Y Sanhal, N Yuksel, O Alper, G Ceylaner
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27639780/fronto-facial-advancement-and-bipartition-in-crouzon-pfeiffer-and-apert-syndromes-impact-of-fronto-facial-surgery-upon-orbital-and-airway-parameters-in-fgfr2-syndromes
#11
Roman H Khonsari, Benjamin Way, Johan Nysjö, Guillaume A Odri, Raphaël Olszewski, Robert D Evans, David J Dunaway, Ingela Nyström, Jonathan A Britto
A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients...
October 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27622416/craniosynostosis-prenatal-diagnosis-by-2d-3d-ultrasound-magnetic-resonance-imaging-and-computed-tomography
#12
REVIEW
Talita Micheletti Helfer, Alberto Borges Peixoto, Gabriele Tonni, Edward Araujo Júnior
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes...
September 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27596369/spermatogonial-stem-cells-implications-for-genetic-disorders-and-prevention
#13
Makiko Yamada, Letizia De Chiara, Marco Seandel
Spermatogonial stem cells (SSCs) propagate mammalian spermatogenesis throughout male reproductive life by continuously self-renewing and differentiating, ultimately, into sperm. SSCs can be cultured for long periods and restore spermatogenesis upon transplantation back into the native microenvironment in vivo. Conventionally, SSC research has been focused mainly on male infertility and, to a lesser extent, on cell reprogramming. With the advent of genome-wide sequencing technology, however, human studies have uncovered a wide range of pathogenic alleles that arise in the male germline...
September 5, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27562283/-craniosynostosis-and-strabismus
#14
REVIEW
A K Wang, X L Kang
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. The clinical manifestation of CS includes malformation of skull, intracranial hypertension, brain hernia, developmental disorder of cerebral function, strabismus, and etc, while SCS has more complex manifestation...
August 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27534905/evaluation-of-the-maxillofacial-morphological-characteristics-of-apert-syndrome-infants
#15
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
January 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27531106/selective-mutation-accumulation-a-computational-model-of-the-paternal-age-effect
#16
Eoin C Whelan, Alexander C Nwala, Christopher Osgood, Stephan Olariu
MOTIVATION: As the mean age of parenthood grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations: substitutions that grant spermatogonial stem cells (SSCs) a selective advantage in the testes of the father, but have a deleterious effect in offspring. In this paper we present a computational technique to model the SSC niche in order to examine the phenomenon and draw conclusions across different genes and disorders...
December 15, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27497702/proposed-caudal-appendage-classification-system-spinal-cord-tethering-associated-with-sacrococcygeal-eversion
#17
C Corbett Wilkinson, Arianne J Boylan
INTRODUCTION: The most commonly used classification system for caudal appendages (aka human tails) dates from the 1980s and classifies appendages (tails) as either true tails or pseudotails. Advances in neuroimaging since the 1980s, however, as well as an ever-increasing number of reported cases, have made this system outdated. Sacrococcygeal eversion is a condition in which the distal sacral and coccygeal vertebrae are curved in a retroverted rather than anteverted direction. It can give rise to one type of caudal appendage...
August 6, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27485956/-conclusions-of-the-ii-international-and-iv-spanish-hydration-congress-toledo-spain-2nd-4th-december-2015
#18
Javier Aranceta-Bartrina, Ángel Gil, Ascensión Marcos, Carmen Pérez-Rodrigo, Lluis Serra-Majem, Gregorio Varela-Moreiras
Javier Aranceta-Bartrina1, Ángel Gil2, Ascensión Marcos3, Carmen Pérez-Rodrigo4, Lluis Serra-Majem5 and Gregorio Varela-Moreiras6*1Associate Professor at University of Navarra. Pamplona, Spain. 2Professor of Biochemistry and Molecular Biology. University of Granada. Granada, Spain. 3Research Professor at the Spanish National Research Council (CSIC). Madrid, Spain. 4President of Spanish Society of Community Nutrition (SENC). Bilbao, Spain. 5Professor of Preventive Medicine and Public Health. Director of Group of Nutrition...
2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/27444662/-conclusions-of-the-ii-international-and-iv-spanish-hydration-congress-toledo-spain-2nd-4th-december-2015
#19
Javier Aranceta-Bartrina, Ángel Gil, Ascensión Marcos, Carmen Pérez-Rodrigo, Lluis Serra-Majem, Gregorio Varela-Moreiras
Javier Aranceta-Bartrina1, Ángel Gil2, Ascensión Marcos3, Carmen Pérez-Rodrigo4, Lluis Serra-Majem5 and Gregorio Varela-Moreiras6*1Associate Professor at University of Navarra. Pamplona, Spain. 2Professor of Biochemistry and Molecular Biology. University of Granada. Granada, Spain. 3Research Professor at the Spanish National Research Council (CSIC). Madrid, Spain. 4President of Spanish Society of Community Nutrition (SENC). Bilbao, Spain. 5Professor of Preventive Medicine and Public Health. Director of Group of Nutrition...
2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/27438436/the-quality-of-life-in-adult-patients-with-syndromic-craniosynostosis-from-their-perspective
#20
Mark S Lloyd, Anuradha Venugopal, Johan Horton, Desiderio Rodrigues, Hiroshi Nishikawa, Nicholas White, Guirish Solanki, Peter Noons, Martin Evans, Stephen Dover
INTRODUCTION: Clinical intuition may perceive those adults with syndromic craniosynostosis to have a lower quality of life (QOL) compared with the normative population. Classification of facial difference; standardization of cognitive capacity and selection of an appropriate QOL measurement tool provides a less intuitive and more evidence-based method of assessing QOL in this particular group of patients. METHODS: Adults with syndromic craniosynostosis treated by the same surgeons underwent Whittaker Classification for facial difference by an independent observer...
September 2016: Journal of Craniofacial Surgery
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