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Facial growth

Jing Huang, Cui-Ying Li, Jiu-Hui Jiang
BACKGROUND: The present systematic review and meta-analysis aimed to test the hypothesis that no facial soft tissue changes occur after nonsurgical rapid maxillary expansion (RME), in order to provide a reference for orthodontists. METHODS: PubMed, EMBASE, Cochrane Library, OVID, MEDLINE, CINAHL, Scopus, and ScienceDirect databases were electronically and manually searched up to December 2017, and randomized controlled, clinical controlled trials, cohort studies and retrospective studies where soft tissue changes were measured before and after nonsurgical RME were identified...
March 21, 2018: Head & Face Medicine
Harold S Matthews, Anthony J Penington, Rita Hardiman, Yi Fan, John G Clement, Nicola M Kilpatrick, Peter D Claes
Many disorders present with characteristic abnormalities of the craniofacial complex. Precise descriptions of how and when these abnormalities emerge and change during childhood and adolescence can inform our understanding of their underlying pathology and facilitate diagnosis from craniofacial shape. In this paper we develop a framework for analysing how anatomical differences between populations emerge and change over time, and for binary group classification that adapts to the age of each participant. As a proxy for a disease-control comparison we use a database of 3D photographs of normally developing boys and girls to examine emerging sex-differences...
March 19, 2018: Scientific Reports
Zacharias Kontarakis, Andrea Rossi, Sophie Ramas, Michael T Dellinger, Didier Y R Stainier
Organ homeostasis relies upon cellular and molecular processes that restore tissue structure and function in a timely fashion. Lymphatic vessels help maintain fluid equilibrium by returning interstitial fluid that evades venous uptake back to the circulation. Despite its important role in tissue homeostasis, cancer metastasis, and close developmental origins with the blood vasculature, the number of molecular players known to control lymphatic system development is relatively low. Here we show, using genetic approaches in zebrafish and mice, that the endothelial specific microRNA mir-126, previously implicated in vascular integrity, regulates lymphatic development...
March 14, 2018: Developmental Biology
Peter Stoustrup, Christian Kerting Iversen, Kasper Dahl Kristensen, Cory M Resnick, Carlalberta Verna, Sven Erik Nørholt, Shelly Abramowicz, Annelise Küseler, Paolo Maria Cattaneo, Troels Herlin, Thomas Klit Pedersen
INTRODUCTION: Patients with juvenile idiopathic arthritis (JIA) and involvement of the temporomandibular joint (TMJ) often experience abnormal facial growth. Three-dimensional (3D) assessment of dentofacial growth deviation has become more common with advancement and commercialization of imaging technologies. However, no standardized guidelines exist for interpretation of 3D imaging in patients with JIA. The aim of this study was to propose and validate morphometric measures for the 3D radiographic assessment of dentofacial growth deviation in patients with JIA to enhance: 1) Description of dentofacial growth deviation; 2) Treatment planning; 3) Longitudinal follow-up...
2018: PloS One
Lili Zhang, Zhaomin Fan, Yuechen Han, Lei Xu, Wenwen Liu, Xiaohui Bai, Meijuan Zhou, Jianfeng Li, Haibo Wang
Valproic acid (VPA), a medication primarily used to treat epilepsy and bipolar disorder, has been applied to the repair of central and peripheral nervous system injury. The present study investigated the effect of VPA on functional recovery, survival of facial motor neurons (FMNs), and expression of proteins in rats after facial nerve trunk transection by functional measurement, Nissl staining, TUNEL, immunofluorescence, and Western blot. Following facial nerve injury, all rats in group VPA showed a better functional recovery, which was significant at the given time, compared with group NS...
March 12, 2018: Journal of Molecular Neuroscience: MN
Min Jae Kang, Soo Min Ahn, Il Tae Hwang
Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and NIPBL mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial dysmorphism, cleft palate, hypertrichosis, upper limb hypertonicity, flexion contracture of elbows, micromelia, bilateral hearing loss, gastroesophageal reflux, and severe pyloric stenosis...
January 2018: Annals of Clinical and Laboratory Science
Zhala Meran, Alexandros Besinis, Tracy De Peralta, Richard D Handy
Patients with facial prostheses suffer from yeast, Candida albicans, infections. This study aimed to determine the biocompatibility and antifungal properties of silicone facial prostheses coated with silver nanoparticles (Ag NPs) in vitro. Medical grade silicone discs were coated with 5 and 50 mg L-1 dispersions of either Ag NPs or AgNO3 . Coatings were fully characterized using scanning electron microscopy and energy dispersive X-ray spectroscopy. The biocompatibility was examined using human dermal fibroblasts (Hs68), whereas antifungal efficacy was tested against C...
April 2018: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
Kohei Okuyama, Masashi Yamashiro, Atsushi Kaida, Aya Kawamata, Miho Mizutani, Yasuyuki Michi, Narikazu Uzawa, Tomoyuki Yano, Rei Tohyama, Satoshi Yamaguchi
For young growing children before the end of skeletal maturity, the growth activity of the grafted bone after hemimandibulectomy is not well-known. After an adolescence, such a patient may have facial deformity because the anterior growth point of the mandible is in the condylar neck. A 13-year-old boy was performed hemimandibulectomy with immediate mandibular reconstruction by fibula free flap (FFF) because of a huge ameloblastic fibroma. The authors evaluated the length of FFF on the images of computed tomography (CT) at 5 and 60 months after the operation and compared them by calculating growth rates...
March 8, 2018: Journal of Craniofacial Surgery
Rosalinda Calandrelli, Fabio Pilato, Luca Massimi, Marco Panfili, Gabriella D'Apolito, Simona Gaudino, Cesare Colosimo
PURPOSE: Craniosynostostic syndromes are due to multisuture synostoses and affect the entire craniofacial skeleton. This study analyzed the facial complex and airways to quantify the relationship between insufficient facial growth, airways obstruction, and the sutural pattern of the splanchnocranium and cranial fossae. METHODS: Preoperative high-resolution CT images in 19 infants with syndromic craniosynostosis were quantitatively analyzed. Because all children showed involvement of minor sutures/synchondroses coursing in the posterior cranial fossa, they were divided into three groups according to the synostotic involvement of "minor" sutures/synchondroses coursing in anterior (ACF) and middle (MCF) cranial fossae: group 1 (ACF), group 2 (MCF), and group 3 (ACF-MCF)...
March 8, 2018: Neuroradiology
Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
Yacoba Atiase, Ernest Yorke, Josephine Akpalu, Bismark Opoku-Asare, Patrick Adjei, Maame Boatemma Amissah-Arthur, Albert Akpalu
BACKGROUND: Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features. Vascular endothelial growth factors which have been implicated in the clinical features of pachydermoperiostosis, have also been shown to be present in chronic hepatitis and implicated in the malignant transformation of hepatitis B infection to hepatocellular carcinoma. To the best of our knowledge there is one reported case of pachydermoperiostosis with chronic hepatitis B infection...
March 8, 2018: Journal of Medical Case Reports
Stéphanie Moortgat, Damien Lederer, Marie Deprez, Marga Buzatu, Philippe Clapuyt, Sébastien Boulanger, Valérie Benoit, Sandrine Mary, Agnès Guichet, Alban Ziegler, Estelle Colin, Dominique Bonneau, Isabelle Maystadt
Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features including speech delay, seizures, strabismus, behavioral difficulties, and slight facial dysmorphism. OPHN1 is located in Xq12 and encodes a Rho-GTPase-activating protein involved in the regulation of the G-protein cycle...
March 3, 2018: European Journal of Medical Genetics
Rodrigo Fariña, Loreto Canto, Renato Gunckel, Juan Pablo Alister, Francisca Uribe
: Temporomandibular joint ankylosis, according to age of onset, causes severe functional and morphological disorders, as well as stunted craniofacial growth and development.The primary goal of treatment is to resolve the functional and morphological disorders. METHOD: Pre- and posttreatment clinical and cephalometric registries were conducted in 15 patients with temporomandibular joint ankylosis over a 10-year period (2002-2012). All the patients underwent complete removal of the ankylotic block, gap arthroplasty, and ipsilateral coronoidectomy...
March 2018: Journal of Craniofacial Surgery
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. METHODS: Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study...
March 5, 2018: BMC Medical Genetics
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
Sumana Chatterjee, Lucy Shapiro, Stephen J Rose, Talat Mushtaq, Peter E Clayton, Svetlana Ten, Amrit Bhangoo, Uma Kumbattae, Renuka Dias, Martin O Savage, Louise A Metherell, Helen L Storr
BACKGROUND: Patients with homozygous intronic pseudoexon GH receptor(GHR) mutations(6Ψ) have growth hormone Insensitivity(GHI) (growth failure, IGF1 deficiency and normal/elevated serum GH). We report 9 patients in addition to previously described 11 GHR 6Ψ patients and their responses to rhIGF1 therapy. METHODS: 20 patients (12 males, 11 families, mean age 4.0±2.2yrs) were diagnosed genetically in our centre. Phenotypic data and responses to rhIGF1 treatment were provided by referring clinicians...
March 2, 2018: European Journal of Endocrinology
Meghan R McKinnon, Ellie K Simpson, Maciej Henneberg
Previous studies have used longitudinal samples to investigate growth of the skeletal aspects of the face, although far less has been done on facial soft tissue. This study uses a larger sample than previous studies on the same data (Denver and Fels growth series) to explore covariation of bony and soft facial dimensions comprehensively from childhood to adulthood. A total of 1036 lateral cephalometric radiographs were digitized from 60 individuals, and distances between facial landmarks were measured using ImageJ...
March 1, 2018: Journal of Forensic Sciences
Franziska Fennel, Jana Gershberg, Matthias Stolte, Frank Würthner
Constituting an intermediate state of matter between molecules and solid state materials, dye aggregates can give important insights into functional properties. Despite the importance of fluorescence for many applications, it turns out that the conventional methods for quantum yield determination are not applicable to dye aggregates and so far no method has been introduced for the accurate determination of the fluorescence quantum yields of dye aggregates. Here we suggest two measurement routines for the quantum yield determination of strongly absorbing dye aggregates...
March 1, 2018: Physical Chemistry Chemical Physics: PCCP
Jean-Nicolas Comps, Constantin Tuleasca, Beatrice Goncalves-Matoso, Luis Schiappacasse, Maud Marguet, Marc Levivier
INTRODUCTION: Facial nerve schwannomas are rare tumors and account for less than 2% of intracranial neurinomas, despite being the most common tumors of the facial nerve. The optimal management is currently under debate and includes observation, microsurgical resection, radiosurgery (RS), and fractionated radiotherapy. Radiosurgery might be a valuable alternative, as a minimally invasive technique, in symptomatic patients and/or presenting tumor growth. METHODS: We review our series of four consecutive cases, treated with Gamma Knife surgery (GKS) between July 2010 and July 2017 in Lausanne University Hospital, Switzerland...
February 28, 2018: Acta Neurochirurgica
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