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https://www.readbyqxmd.com/read/28640836/craniofacial-similarity-analysis-through-sparse-principal-component-analysis
#1
Junli Zhao, Fuqing Duan, Zhenkuan Pan, Zhongke Wu, Jinhua Li, Qingqiong Deng, Xiaona Li, Mingquan Zhou
The computer-aided craniofacial reconstruction (CFR) technique has been widely used in the fields of criminal investigation, archaeology, anthropology and cosmetic surgery. The evaluation of craniofacial reconstruction results is important for improving the effect of craniofacial reconstruction. Here, we used the sparse principal component analysis (SPCA) method to evaluate the similarity between two sets of craniofacial data. Compared with principal component analysis (PCA), SPCA can effectively reduce the dimensionality and simultaneously produce sparse principal components with sparse loadings, thus making it easy to explain the results...
2017: PloS One
https://www.readbyqxmd.com/read/28635123/measuring-fitness-heritability-life-history-traits-versus-morphological-traits-in-humans
#2
Alina Gavrus-Ion, Torstein Sjøvold, Miguel Hernández, Rolando González-José, María Esther Esteban Torné, Neus Martínez-Abadías, Mireia Esparza
OBJECTIVES: Traditional interpretation of Fisher's Fundamental Theorem of Natural Selection is that life history traits (LHT), which are closely related with fitness, show lower heritabilities, whereas morphological traits (MT) are less related with fitness and they are expected to show higher heritabilities. In humans, although few studies have examined the heritability of LHT and MT, none of them have analyzed the same sample for comparative purposes. Here we assessed, for the first time, the heritability, additive genetic variance (VA ), residual variance (VR ) and coefficient of genetic additive variation (CVA ) values of LHT and MT in a singular collection of identified skulls with associated demographic records from Hallstatt (Austria)...
June 21, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28635121/exposure-to-sodium-valproate-during-pregnancy-facial-features-and-signs-of-autism
#3
Rachel Stadelmaier, Hanah Nasri, Curtis K Deutsch, Margaret Bauman, Anne Hunt, Christopher J Stodgell, Jane Adams, Lewis B Holmes
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#4
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
June 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28628911/a-carasil-patient-from-americas-with-novel-mutation-and-atypical-features-case-presentation-and-literature-review
#5
Muhammad Ibrahimi, Hiroaki Nozaki, Angelica Lee, Osamu Onodera, Raymond Reichwein, Matthew Wicklund, Mohammad El-Ghanem
OBJECTIVE: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. METHODS: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. RESULTS: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes...
June 21, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28628727/bone-resection-for-facial-cutaneous-malignancies
#6
Markus Brunner, Sydney Ch'ng, Kerwin Shannon, Anthony Clifford, Bruce Ashford, Michael Elliott, Jonathan R Clark
BACKGROUND AND OBJECTIVES: The aim of this study is to analyze the clinical outcomes of patients who underwent bone resection for cutaneous malignancy of the face and scalp. METHODS: We retrospectively collected patient data from 62 patients who underwent bone resection for craniofacial cutaneous malignancy of the face and scalp over the last 10 years. We investigated risk factors for disease progression and assessed the utility of pre-operative imaging to predict bone, dura, and brain infiltration...
June 19, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28623681/soft-tissue-changes-measured-with-three-dimensional-software-provides-new-insights-for-surgical-predictions
#7
Yu-Jen Chang, Antônio C O Ruellas, Marilia S Yatabe, Philip M Westgate, Lucia H S Cevidanes, Sarandeep S Huja
PURPOSE: Although computer-aided craniofacial reconstructions allows for simulation of hard tissue changes, the prediction of the final soft tissue facial changes remains a challenge. The purpose of the present study was to evaluate the 3-dimensional (3D) soft tissue changes in patients undergoing 2-jaw orthognathic surgery. PATIENTS AND METHODS: For the present retrospective cohort study, 40 consecutive patients (11 men and 29 women; mean age 23.5 ± 4.9 years) who had undergone 2-jaw orthognathic surgery were selected...
May 24, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#8
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28622309/eyelid-and-fornix-reconstruction-in-abortive-cryptophthalmos-a-single-center-experience-over-12-years
#9
J Ding, Z Hou, Y Li, N Lu, D Li
PurposeAbortive cryptophthalmos is a rare congenital eyelid anomaly with poor prognosis for vision and cosmesis. The study aims to present its varied manifestations and surgical outcomes.Patients and methodsThe medical records of patients with abortive cryptophthalmos treated at the Oculoplastic Clinic of Beijing Tongren Hospital between January 2004 and May 2016 were reviewed. Early surgical intervention was performed when exposure keratopathy occurs. Upper eyelid and superior fornix were mainly reconstructed with sliding myocutaneous flap and scleral and amniotic grafts...
June 16, 2017: Eye
https://www.readbyqxmd.com/read/28622039/determinants-for-craniofacial-pains-in-children-6-8-years-of-age-the-panic-study
#10
Anu Vierola, Anna Liisa Suominen, Aino-Maija Eloranta, Niina Lintu, Tiina Ikävalko, Matti Närhi, Timo A Lakka
OBJECTIVE: Determinants for orofacial pain, headache, morning headache and painful signs of temporomandibular disorders (TMD) were investigated in prepubertal children. MATERIAL AND METHODS: The participants were a population sample of 439 children aged 6-8 years. Craniofacial pains, eating meals and snacks, sleep bruxism, sleep quality, sleep-disordered breathing (SDB), psychological well-being, parental education and household income were assessed by questionnaires filled out by the parents...
June 16, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/28620997/morphology-and-evolution-of-the-oral-shield-in-marsupial-neonates-including-the-newborn-monito-del-monte-dromiciops-gliroides-marsupialia-microbiotheria-pouch-young
#11
Nanette Y Schneider, Yamila Gurovich
Newborn marsupials can be arranged into three grades of developmental complexity based on their external form, as well as based on their organ systems and their cytology. The dasyurids are considered the least developed marsupials at birth, while didelphids and peramelids are intermediate, and macropods are the most developed. Currently there is still little information on caenolestid and microbiotherid development at birth. Developmental stages can be graded as G1, G2 and G3, with G1 being the least developed at birth, and G3 the most developed...
July 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28620574/complications-of-advanced-kadish-stage-esthesioneuroblastoma-single-institution-experience-and-literature-review
#12
Sheri K Palejwala, Saurabh Sharma, Christopher H Le, Eugene Chang, Michael Lemole
INTRODUCTION: In esthesioneuroblastoma, greater disease extent and Kadish staging correlate with greater recurrence, complications, and mortality. These advanced stage malignancies require extensive resections and aggressive adjuvant therapy. This increases the risk of complications such as cerebrospinal fluid leak, neurologic deficits, and osteomyelitis. We present our case series and then analyze the literature to ascertain whether advanced stage tumors corresponds to greater rates of complications...
May 12, 2017: Curēus
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#13
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28617738/the-whitaker-classification-of-craniosynostosis-outcomes-an-assessment-of-inter-rater-reliability
#14
Ari M Wes, Sanjay Naran, James Sun, Daniel Mazzaferro, Wen Xu, Phuong Nguyen, Linton A Whitaker, Scott P Bartlett, Jesse A Taylor
PURPOSE: The Whitaker classification (WC) is a simple and widely used system for describing aesthetic outcomes after craniosynostosis surgery. The purpose of this study is to evaluate its inter-rater reliability for patients who have undergone frontal-orbital surgery. METHODS: A retrospective review of patients with craniosynostosis who underwent surgical intervention at a tertiary referral center was conducted. Inclusion criteria were: single-suture craniosynostosis, surgical intervention before age two years, and photographs taken prior to revisions between 5 and 20 years of age...
June 14, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28615136/accuracy-of-measurements-used-to-quantify-cranial-asymmetry-in%C3%A2-deformational-plagiocephaly
#15
Henri Aarnivala, Ville Vuollo, Tuomo Heikkinen, Virpi Harila, Lasse Holmström, Pertti Pirttiniemi, A Marita Valkama
OBJECTIVE: Various measurements are used to quantify cranial asymmetry in deformational plagiocephaly (DP), but studies validating cut-off values and comparing the accuracy of such measurements are lacking. In this study, we compared the accuracy of four different measurements in classifying children with and without DP diagnosed by visual assessment, and sought to determine their optimal cut-off values. STUDY DESIGN: Two experts rated 407 3D craniofacial images of children aged between 3 and 36 months old using the Argenta classification...
May 22, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28612405/a-comparative-transcriptomic-analysis-of-development-in-two-astyanax-cavefish-populations
#16
Bethany A Stahl, Joshua B Gross
Organisms that are isolated into extreme environments often evolve extreme phenotypes. However, global patterns of dynamic gene expression changes that accompany dramatic environmental changes remain largely unknown. The blind Mexican cavefish, Astyanax mexicanus, has evolved a number of severe cave-associated phenotypes including loss of vision and pigmentation, craniofacial bone fusions, increased fat storage, reduced sleep, and amplified nonvisual sensory systems. Interestingly, surface-dwelling forms have repeatedly entered different caves throughout Mexico, providing a natural set of "replicate" instances of cave isolation...
June 14, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28611549/mutation-c-943g-t-p-ala315ser-in-fgfr2-causing-a-mild-phenotype-of-crouzon-craniofacial-dysostosis-in-a-three-generation-family
#17
Luitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Martin A Mensah, Wolfram Kress
Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611422/bone-fusion-in-normal-and-pathological-development-is-constrained-by-the-network-architecture-of-the-human-skull
#18
Borja Esteve-Altava, Toni Vallès-Català, Roger Guimerà, Marta Sales-Pardo, Diego Rasskin-Gutman
Craniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28610544/the-biomechanical-properties-of-human-craniofacial-sutures-and-relevant-variables-in-sutural-distraction-osteogenesis-a-critical-review
#19
Fabio Savoldi, James Kh Tsoi, Corrado Paganelli, Jukka P Matinlinna
Sutures are synarthroses connecting the bones of the head each other through a fibrous sutural ligament. The knowledge of their biomechanical properties is relevant in the application of regenerative techniques for the treatment of craniofacial conditions, such as the sutural distraction osteogenesis (SDO). However, their mechanical characterisation has not received a systematic approach, and both clinical treatments and virtual simulations lack of clear mechanical parameters. Online databases (PubMed©, Cochrane Library©, Google Scholar©), references of full-text articles, and previous reviews of the literature were searched...
June 13, 2017: Tissue Engineering. Part B, Reviews
https://www.readbyqxmd.com/read/28608052/craniofacial-and-dental-characteristics-of-patients-with-vitamin-d-dependent-rickets-type-1a-compared-to-controls-and-patients-with-x-linked-hypophosphatemia
#20
Hans Gjørup, Signe Sparre Beck-Nielsen, Dorte Haubek
ᅟOBJECTIVES: Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. The aim of the study was to describe the craniofacial characteristics and the dental phenotype of patients with genetically confirmed VDDR1A. The VDDR1A findings were compared to findings in patients with X-linked hypophosphatemia (XLH) and healthy controls. MATERIAL AND METHODS: Ten patients with VDDR1A were identified. The reference group for the comparison of cephalometric findings was 49 adults without chronic disease...
June 12, 2017: Clinical Oral Investigations
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