keyword
MENU ▼
Read by QxMD icon Read
search

Craniofacial growth

keyword
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27894547/comparison-of-advansync-and-intermaxillary-elastics-in-the-correction-of-class-ii-malocclusions-a-retrospective-clinical-study
#2
Santhosh Jayachandran, William A Wiltshire, Sandra M Hayasaki, Fabio H S L Pinheiro
INTRODUCTION: Our objectives were to compare the skeletal, dentoalveolar, and soft tissue effects of the AdvanSync appliance (Ormco, Glendora, Calif) with intermaxillary elastics in the correction of Class II malocclusions in growing patients. METHODS: A retrospective study was conducted using lateral cephalograms of patients taken before and after comprehensive orthodontic treatment; 41 patients consecutively treated with the AdvanSync were compared with 41 similar patients treated with intermaxillary Class II elastics...
December 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27890229/maxillofacial-defects-and-the-use-of-growth-factors
#3
REVIEW
Alan S Herford, Meagan Miller, Fabrizio Signorino
The development and increase in knowledge of the benefits and applications of growth factors in craniofacial reconstruction adds a novel tool in the reconstructive surgeon's armamentarium. The use of growth factors varies according to presentation. Growth factors help to promote healing, angiogenesis, and formation of bone of improved quality and quantity. Growth factors used with stem cells and scaffolds provide a solution or alternative to discomfort created by donor autograft sites. The application and results of these growth factors are displayed in various examples of maxillofacial defects in this article, including reconstruction of a premaxillary cleft and of maxillary augmentation...
February 2017: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/27883932/biological-response-of-human-suture-mesenchymal-cells-to-titania-nanotube-based-implants-for-advanced-craniosynostosis-therapy
#4
Manpreet Bariana, Prem Dwivedi, Sarbin Ranjitkar, John A Kaidonis, Dusan Losic, Peter J Anderson
Titania nanotubes (TNTs) engineered on titanium (Ti) surfaces (i.e. TNT/Ti) and loaded with specific drugs have been recognised as a promising solution for localised therapeutic delivery to address several medical problems not feasible with conventional drug administration. We propose the use of TNT/Ti protein-releasing implants to treat paediatric craniofacial abnormality in craniosynostosis caused by premature fusion of cranial sutures. In this study, we have analysed the biological response of human suture mesenchymal cells (SMCs), extracted from two different patients undergoing craniofacial reconstruction surgery, at the TNT/Ti implant surface...
November 17, 2016: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/27880803/wdr68-mediates-dorsal-and-ventral-patterning-events-for-craniofacial-development
#5
Estibaliz Alvarado, Mina Yousefelahiyeh, Greg Alvarado, Robin Shang, Taryn Whitman, Andrew Martinez, Yang Yu, Annie Pham, Anish Bhandari, Bingyan Wang, Robert M Nissen
Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling...
2016: PloS One
https://www.readbyqxmd.com/read/27871707/cone-beam-computed-tomography-synthesized-cephalometric-study-of-operated-unilateral-cleft-lip-and-palate-and-noncleft-children-with-class-iii-skeletal-relationship
#6
Yifan Lin, Zhen Fu, Lian Ma, Weiran Li
INTRODUCTION: Our objective was to compare the craniofacial hard and soft tissue characteristics between children with operated unilateral cleft lip and palate (UCLP) and children with noncleft lip and palate (non-CLP) with a Class III skeletal relationship. METHODS: The study sample consisted of 30 subjects (18 boys, 12 girls; mean age, 10.21 years) affected by UCLP and 30 non-CLP subjects (17 boys, 13 girls; mean age, 10.19 years) as the control group. All subjects were in the mixed dentition with a Class III skeletal relationship...
November 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27869431/-deletion-on-the-short-arm-of-chromosome-18-syndrome-diagnosed-by-array-comparative-genomic-hybridization-presentation-of-one-case-with-a-mild-phenotype
#7
Harry Pachajoa
Deletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27865065/how-do-we-recognize-the-child-with-osas
#8
Koen F Joosten, Helena Larramona, Silvia Miano, Dick Van Waardenburg, Athanasios G Kaditis, Nele Vandenbussche, Refika Ersu
Obstructive sleep-disordered breathing includes a spectrum of clinical entities with variable severity ranging from primary snoring to obstructive sleep apnea syndrome (OSAS). The clinical suspicion for OSAS is most often raised by parental report of specific symptoms and/or abnormalities identified by the physical examination which predispose to upper airway obstruction (e.g., adenotonsillar hypertrophy, obesity, craniofacial abnormalities, neuromuscular disorders). Symptoms and signs of OSAS are classified into those directly related to the intermittent pharyngeal airway obstruction (e...
November 16, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27856617/pdgfr%C3%AE-regulates-craniofacial-development-through-homodimers-and-functional-heterodimers-with-pdgfr%C3%AE
#9
Katherine A Fantauzzo, Philippe Soriano
Craniofacial development is a complex morphogenetic process, disruptions in which result in highly prevalent human birth defects. While platelet-derived growth factor (PDGF) receptor α (PDGFRα) has well-documented functions in this process, the role of PDGFRβ in murine craniofacial development is not well established. We demonstrate that PDGFRα and PDGFRβ are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos and that ablation of Pdgfrb in the neural crest lineage results in increased nasal septum width, delayed palatal shelf development, and subepidermal blebbing...
November 17, 2016: Genes & Development
https://www.readbyqxmd.com/read/27856378/residual-craniofacial-growth-a-cephalometric-study-of-50-cases
#10
Youssef Oualalou, Malik Ahmed Antouri, André Pujol, Fatima Zaoui, Mohamed Faouzi Azaroual
Although orthodontists focus intensively on the diagnosis and treatment of their patients, they pay less attention to post-treatment development and the risk of relapse often caused by the late growth of the arches and bony base. The aim of this study, therefore, was to determine the growth changes, which can affect craniofacial dimensions in subjects aged between 13 and 17 years. A retrospective longitudinal study including 50 patients (31 girls and 19 boys) whose end of orthodontic treatment coincided with the end of the post-pubertal period (13-14 years) involved a comparison of the cephalometric analyses for each patient between T1 (end of orthodontic treatment) and T2 (end of retention)...
November 14, 2016: International Orthodontics
https://www.readbyqxmd.com/read/27831981/squamous-suture-synostosis-a-review-with-emphasis-on-cranial-morphology-and-involvement-of-other-cranial-sutures
#11
Doug Chieffe, Lena Naffaa, Gaby Doumit
Squamosal suture synostosis has received little attention, potentially due to its rare nature. The authors present here a clinical report of isolated unilateral squamosal suture synostosis and a literature review, which produced 6 articles describing 33 patients of squamosal synostosis.Of the reported patients, 15 were associated with a craniofacial syndrome, 10 were nonsyndromic, and 8 were not specified. The cranial morphology varied greatly and only 1 patient was consistent with the morphology predicted by Virchow law-decreased vertical growth with compensatory ipsilateral longitudinal growth (manifesting as occipital and possibly frontal zygomatic bulging)...
November 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27831977/single-stage-combined-craniofacial-repair-for-frontoethmoidal-meningoencephalocele
#12
Ahmed Gaber Hassanein, Khalid Nasser Fadle
INTRODUCTION: Frontoethmoidal meningoencephalocele (FMEC) is a rare congenital anomaly characterized by herniation of brain tissue and meninges through a defect in the cranium and associated with facial dysmorphism. Treatment modalities include extra cranial, transcranial, or combined craniofacial approaches. The combined approach is considered the best treatment choice. METHODS: Twelve patients with FMEC aging from 6 months to 4 years were treated by single-stage combined craniofacial approach between July 2011 and July 2015...
November 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27828986/plasma-mirna-profiles-in-pregnant-women-predict-infant-outcomes-following-prenatal-alcohol-exposure
#13
Sridevi Balaraman, Jordan J Schafer, Alexander M Tseng, Wladimir Wertelecki, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Christina D Chambers, Rajesh C Miranda
Fetal alcohol spectrum disorders (FASD) are difficult to diagnose since many heavily exposed infants, at risk for intellectual disability, do not exhibit craniofacial dysmorphology or growth deficits. Consequently, there is a need for biomarkers that predict disability. In both animal models and human studies, alcohol exposure during pregnancy resulted in significant alterations in circulating microRNAs (miRNAs) in maternal blood. In the current study, we asked if changes in plasma miRNAs in alcohol-exposed pregnant mothers, either alone or in conjunction with other clinical variables, could predict infant outcomes...
2016: PloS One
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#14
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
November 2, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27796401/geometric-morphometrics-of-different-malocclusions-in-lateral-skull-radiographs
#15
Josef Freudenthaler, Aleš Čelar, Christopher Ritt, Philipp Mitteröcker
BACKGROUND: To evaluate the role of craniofacial shape in malocclusion by application of geometric morphometrics to a set of two-dimensional landmarks and semilandmarks obtained from lateral skull radiographs. METHODS: Cephalometric radiograph tracings of 88 untreated Caucasians (age range 7-39 years) were assigned to four groups according to their occlusion: neutrocclusion, distocclusion, mesiocclusion, and anterior open bite. The geometric morphometric shape analysis incorporated 66 landmarks and semilandmarks, which underwent generalized Procrustes analysis, between-groups principal component analysis, thin-plate spline deformation grid visualization, permutation tests, and receiver operating characteristic curves...
October 31, 2016: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/27784318/dietary-phosphate-supplement-does-not-rescue-skeletal-phenotype-in-a-mouse-model-for-craniometaphyseal-dysplasia
#16
Yaling Liu, Eliane H Dutra, Ernst J Reichenberger, I-Ping Chen
BACKGROUND: Mutations in the human progressive ankylosis gene (ANKH; Mus musculus ortholog Ank) have been identified as cause for craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. We previously reported a knock-in (KI) mouse model (Ank (KI/KI)) for CMD and showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23) in Ank (KI/KI) mice...
October 26, 2016: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/27775805/craniofacial-morphology-and-airflow-in-children-with-primary-snoring
#17
V Luzzi, G Di Carlo, M Saccucci, G Ierardo, E Guglielmo, M Fabbrizi, A M Zicari, M Duse, F Occasi, G Conti, E Leonardi, A Polimeni
OBJECTIVE: Sleep-disordered breathing (SDB) is among the most common diseases and includes a group of pathological conditions that form a severity continuum from primary snoring (PS) to obstructive sleep apnea (OSA). SDB presents a multifactorial etiology and in children, it is often linked to adenotonsillar hypertrophy, which may lead to an alteration of the breathing pattern. Therefore, several studies hinted at the existence of a correlation between SDB and the alteration of craniofacial growth...
October 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27771997/enhanced-mandibular-bone-repair-by-combined-treatment-of-bone-morphogenetic-protein-2-and-small-molecule-phenamil
#18
Jiabing Fan, Mian Guo, Choong Sung Im, Joan Pi-Anfruns, Zhong-Kai Cui, Soyon Kim, Benjamin M Wu, Tara L Aghaloo, Min Lee
Growth factor-based therapeutics using bone morphogenetic protein 2 (BMP-2) presents a promising strategy to reconstruct craniofacial bone defects such as mandible. However, clinical applications require supraphysiological BMP doses that often increase inappropriate adipogenesis, resulting in well-documented, cyst-like bone formation. Here we reported a novel complementary strategy to enhance osteogenesis and mandibular bone repair by using small-molecule phenamil that has been shown to be a strong activator of BMP signaling...
November 28, 2016: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/27767931/early-growth-and-neurologic-outcomes-of-infants-with-probable-congenital-zika-virus-syndrome
#19
Antonio Augusto Moura da Silva, Jucelia Sousa Santos Ganz, Patricia da Silva Sousa, Maria Juliana Rodvalho Doriqui, Marizelia Rodrigues Costa Ribeiro, Maria Dos Remédios Freitas Carvalho Branco, Rejane Christine de Sousa Queiroz, Maria de Jesus Torres Pacheco, Flavia Regina Vieira da Costa, Francelena de Sousa Silva, Vanda Maria Ferreira Simões, Marcos Antonio Barbosa Pacheco, Fernando Lamy-Filho, Zeni Carvalho Lamy, Maria Teresa Seabra Soares de Britto E Alves
We report the early growth and neurologic findings of 48 infants in Brazil diagnosed with probable congenital Zika virus syndrome and followed to age 1-8 months. Most of these infants had microcephaly (86.7%) and craniofacial disproportion (95.8%). The clinical pattern included poor head growth with increasingly negative z-scores, pyramidal/extrapyramidal symptoms, and epilepsy.
November 2016: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27765101/-nasopharyngeal-changes-in-8-13-years-old-healthy-children-in-china-a-longitudinal-study
#20
S S Liu, J R Deng, D S Wang, X Gong, Y H Zhou, X M Gao
Objective: Nasopharynx is an important compartment of the upper airway. It is closely associated with the characteristic craniofacial skeletal pattern related to sleep breathing. The present study aimed to investigate the growth pattern of the nasopharynx during rapid puberty growth period. Methods: Thirty non-snoring children (aged 8 to 11 years old) were selected by means of questionnaires and clinical examination. Periodic yearly follow up using MRI, lateral cephalogram, and polysomnograph (PSG) was done in these children...
October 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
keyword
keyword
5759
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"