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https://www.readbyqxmd.com/read/28524085/present-food-shopping-habits-in-the-spanish-adult-population-a-cross-sectional-study
#1
María Achón, María Serrano, Ángela García-González, Elena Alonso-Aperte, Gregorio Varela-Moreiras
Information on grocery shopping patterns is one key to understanding dietary changes in recent years in Spain. This report presents an overview of Spanish food shopping patterns in the adult population. A cross-sectional, nationally representative telephone survey was conducted in Spain. Individuals were asked about food shopping responsibility roles, types of visited food stores, time spent, additional behaviors while shopping, the influence of marketing/advertising and, in particular, fresh produce shopping profile...
May 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28523332/apert-syndrome-clinical-case
#2
Mirela Anişoara Siminel, Cristian Ovidiu NeamŢu, Damian DiŢescu, Mircea Cătălin ForŢofoiu, Alexandru Cristian Comănescu, Marius Bogdan Novac, Simona Daniela NeamŢu, Adrian Gluhovschi
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28468153/long-term-evaluation-of-mandibular-growth-in-children-with-fgfr2-mutations
#3
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...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468151/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#4
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...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#5
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28338248/surgical-strategy-for-apert-syndrome-retrospective-study-of-developmental-quotient-and-three-dimensional-computerized-tomography
#6
Shoichi Tomita, Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura
There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome...
March 24, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28320694/rectus-muscle-excyclorotation-and-v-pattern-strabismus-a-quantitative-appraisal-of-clinical-relevance-in-syndromic-craniosynostosis
#7
Linda R Dagi, Sarah MacKinnon, David Zurakowski, Sanjay P Prabhu
PURPOSE: V-pattern strabismus observed with syndromic craniosynostosis has been attributed to disparate causes. We compared severity of V pattern with degree of excyclorotation of rectus muscles to appraise significance of this proposed aetiology. METHODS: 43 patients with Apert, Crouzon or Pfeiffer syndrome referred to Boston Children's Hospital Department of Ophthalmology were identified. 28 met inclusion criteria for retrospective cohort study, specifically: (1) sensorimotor measurements in minimum of seven cardinal gazes, (2) quantified fundus torsion and (3) orbital CT imaging sufficient to measure rectus muscle cyclorotation in coronal and quasicoronal planes, posteriorly (near orbital apex) and anteriorly (near pulleys)...
March 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#8
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28273872/voluntary-folic-acid-fortification-levels-and-nutrient-composition-of-food-products-from-the-spanish-market-a-2011-2015-update
#9
María Lourdes Samaniego-Vaesken, Elena Alonso-Aperte, Gregorio Varela-Moreiras
INTRODUCTION: Folic acid (FA) is a synthetic compound commonly added for voluntary fortification of food products in many European countries. In our country, food composition databases (FCDB) lack comprehensive data on FA fortification practices and this is considered a priority research need when undergoing nutritional assessment of the population. METHODS: A product inventory was collected and updated by visiting retail stores in Madrid Region, conducting online supermarket searches, and by the provision of food label information by manufacturers...
March 5, 2017: Nutrients
https://www.readbyqxmd.com/read/28141652/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#10
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
#11
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
#12
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
#13
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...
February 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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