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https://www.readbyqxmd.com/read/28643912/mouse-models-for-the-study-of-cranial-base-growth-and-anomalies
#1
REVIEW
S R Vora
The cranial base is a central and integral component of the cranioskeleton, yet little is known about its growth. Despite the dissimilarities between human and murine cranioskeletal form, mouse models are proving instrumental in studying craniofacial growth. The objectives of this review are to summarize recent findings from numerous mouse models that display growth defects in one or more cranial base synchondroses, with accompanying changes in chondrocyte cellular zones. Many of these models also display altered growth of the cranial vault and/or the facial region...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643008/correction-of-rhytides-peau-d-orange-and-thin-dermis-of-the-face-by-neocollagenesis-using-novel-collagen-stimulating-slurry-protocol
#2
Steven Dominguez, Marek Dobke
We reviewed 200 patient records from 2009 to 2015 of individuals who presented at the authors offices for facial wrinkle reduction and who on physical examination had rhytides, peau d'orange, or thin dermis and underwent novel adipose slurry injections. The patients were evaluated at week 2, 1, 3 and 6 months revealing an 80, 60 and 40% improvement in rhytides and dermis density, respectively. We present the protocol and description of a reasonable alternative or adjunct to manufactured fillers that is comprised of autologous adipose, stem cells, and growth factor slurry...
June 22, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28642541/can-uk-undergraduate-dental-programmes-provide-training-in-non-surgical-facial-aesthetics
#3
T W M Walker, F Gately, S Stagnell, A Kerai, C Mills, S Thomas
Aim Recently, more and more dentists have found themselves engaging in the delivery of non-surgical facial aesthetics (NSFA) as part of their regular practice routine. NSFA is a growing field in aesthetic medicine that is practised by a range of clinicians including doctors, dentists and registered prescriber nurses and is an industry estimated to be worth over £3 billion in the UK alone. In the past few years, several public scandals in aesthetic medicine have prompted reactions by several bodies including the Government and Royal Colleges...
June 23, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28640125/targeted-sequencing-in-fgf-fgfr-genes-and-association-analysis-of-variants-for-mandibular-prognathism
#4
Xueyan Xiong, Shuyuan Li, Ying Cai, Fengshan Chen
To identify variants of the genes in fibroblast growth factors/fibroblast growth factor receptors (FGF/FGFR) signal pathway that predispose to mandibular prognathism (MP) in the general Chinese population systematically.Targeted sequencing of the FGF/FGFR genes was conducted in 176 MP individuals and 155 class I malocclusion controls. The associations of common and rare variants with MP as a categorical phenotype and also continuous malocclusion phenotypes generated by principal component (PC) analysis were analyzed...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28636741/adenoid-cystic-carcinoma-of-the-head-and-neck-area-oncologic-treatment-and-plastic-reconstructive-options
#5
Johannes A Veit, Julia Thierauf, Thomas K Hoffmann, Jens Greve, Nicole Rotter, Patrick J Schuler, Marc O Scheithauer
Adenoid cystic carcinoma of the head and neck area is a rare malignant tumor with acceptable short-term but mediocre long-term prognosis. Radical tumor excision with clear resection margins, and sometimes resection of the facial nerve due to perineural growth, remains the fundamental therapy. We present 3 distinct clinical cases and discuss the current therapeutic options with special focus on plastic-reconstructive techniques. For reconstruction, the full armament of local and free flaps, as well as prosthetics, may be necessary...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#6
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#7
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28617407/-efficiency-of-cephalometry-in-orthodontic-treatment-planning-cephalometric-parameters-and-their-age-related-changes
#8
O I Arsenina, K M Shishkin, M K Shishkin, N V Popova
The aim of the study was to evaluate the efficiency of cephalometry in orthodontic treatment planning in patients with teeth crowding and Angle Class I molars relation. Cephalometric parameters were analyzed in 70 patients that completed orthodontic treatment in 'Orthodont' dental clinic (Samara). Cephalometric X-rays were taken at baseline examination and after treatment. In patients with crowding and Class I molars relationship treated with extraction of all four first premolars correlation between N-Se and mandibular and maxillary length was disturbed...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/28611551/first-two-cases-of-bloom-syndrome-in-russia-lack-of-skin-manifestations-in-a-blm-c-1642c-t-p-q548x-homozygote-as-a-likely-cause-of-underdiagnosis
#9
Evgeny N Suspitsin, Farida I Sibgatullina, Lydia V Lyazina, Evgeny N Imyanitov
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611327/overgrowth-of-costochondral-graft-in-temporomandibular-joint-ankylosis-reconstruction-a-retrospective-study
#10
S M Balaji, Preetha Balaji
BACKGROUND: Temporomandibular joint (TMJ) ankylosis is a situation in which the mandibular condyle is fused to the glenoid fossa by bone or fibrous tissue. The management of TMJ ankylosis has a complicated chore, and it is challenging for the maxillofacial surgeon because of technical hitches and high rate of reankylosis. Costochondral graft (CCG) is a common treatment modality for TMJ ankylosis. One of disadvantages of CCG is unpredictability of growth pattern and risk of overgrowth...
March 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28608920/facial-curvature-detects-and-explicates-ethnic-differences-in-effects-of-prenatal-alcohol-exposure
#11
Michael Suttie, Leah Wetherill, Sandra W Jacobson, Joseph L Jacobson, H Eugene Hoyme, Elizabeth R Sowell, Claire Coles, Jeffrey R Wozniak, Edward P Riley, Kenneth L Jones, Tatiana Foroud, Peter Hammond
BACKGROUND: Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure (PAE) by developing computer based tools for screening facial form. METHODS: All 415 individuals considered were evaluated by expert dysmorphologists and categorized as 1) healthy control (HC), 2) fetal alcohol syndrome (FAS) or 3) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS. 3D facial photographs were used to build models of facial form to support discrimination studies...
June 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28607957/analysis-of-patient-outcomes-following-proton-radiation-therapy-for-retinoblastoma
#12
Kent W Mouw, Beow Y Yeap, Paul Caruso, Aaron Fay, Madhusmita Misra, Roshan V Sethi, Shannon M MacDonald, Yen-Lin Chen, Nancy J Tarbell, Torunn I Yock, Suzanne K Freitag, John E Munzenrider, Eric Grabowski, Michelle Katz, Karen Kuhlthau, Dawn DeCastro, Gena Heidary, Jessica Ciralsky, Shizuo Mukai, Helen A Shih
PURPOSE: Proton radiotherapy (PRT) is used in the treatment of retinoblastoma (RB) and has the potential to minimize exposure of normal tissue to radiation and thus decrease risk of toxicity and second malignancies. However, comprehensive analyses of long-term patient outcomes are not available. METHODS: RB patients treated with PRT at our institution between 1986 and 2012 were invited to return for participation in a study designed to assess long-term outcomes...
January 2017: Advances in Radiation Oncology
https://www.readbyqxmd.com/read/28604082/volumetric-growth-rate-of-recurrent-pleomorphic-adenoma
#13
Molly Naunheim, Xin Wu, William R Ryan, Steven J Wang, Chase M Heaton
OBJECTIVES: Surgery for recurrent pleomorphic adenoma (PA) can be challenging and may increase the risk of operative complications, particularly facial nerve weakness. As observation may be a viable alternative to surgery for slow-growing tumors, our objective was to assess the growth rate of recurrent PAs. STUDY DESIGN: This study is a case series of patients at our tertiary academic medical center with recurrent PA. Two magnetic resonance images (MRI) were compared; total volume (TV) of recurrent tumor on both studies was calculated to obtain our main outcomes of percent change in TV and tumor growth rate...
July 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28593555/genetic-analysis-of-irf6-a-gene-involved-in-craniofacial-midline-formation-in-relation-to-pituitary-and-facial-morphology-of-patients-with-idiopathic-growth-hormone-deficiency
#14
Eline Starink, Anita C S Hokken-Koelega, Theo J Visser, Janneke Baan, Robin P Peeters, Laura C G de Graaff
INTRODUCTION: Growth hormone is secreted by the pituitary gland, which forms part of the craniofacial midline. IRF6 encodes a transcription factor involved in the development of the craniofacial midline and mutations in IRF6 are known to disturb craniofacial development. Craniofacial and pituitary development are closely related. After whole exome sequencing revealed a new mutation in IRF6 in a family with Idiopathic Growth Hormone Deficiency (IGHD), we screened the remainder of our IGHD cohort for mutations in this gene and related their genotypes to pituitary and craniofacial morphology...
June 7, 2017: Pituitary
https://www.readbyqxmd.com/read/28592837/maternally-derived-15q11-2-q13-1-duplication-and-h19-dmr-hypomethylation-in-a-patient-with-silver-russell-syndrome
#15
Sumito Dateki, Masayo Kagami, Keiko Matsubara, Kei Izumi, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Maki Fukami, Hiroyuki Moriuchi
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11...
June 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28588001/successful-growth-hormone-therapy-in-cornelia-de-lange-syndrome
#16
Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Santen, Annemieke Johanna Maria Henriëtta Verkerk, André Gerardus Uitterlinden, Monique Losekoot, Wilma Oostdijk
Cornelia de Lange Syndrome (CdLS) is a heterogeneous syndrome, both clinically and genetically, in its classical form characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the Cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge there are no reports on the effect of recombinant human GH (r-hGH) treatment in CdLS patients...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28581541/validation-of-the-polish-version-of-the-washington-4-digit-diagnostic-code-for-the-assessment-of-fetal-alcohol-spectrum-disorders
#17
Małgorzata Klecka, Małgorzata Janas-Kozik, Ireneusz Jelonek, Andrzej Siwiec, Janusz Rybakowski
OBJECTIVES: The aim of this paper is a quantitative assessment of FASD facial phenotype in the Polish population using the Polish version of the 4-Digit Diagnostic Code. METHODS: The study covered 2 groups of children: 30 children aged 4-7 and 30 children aged 8-11 with a facial phenotype characteristic for the Fetal Alcohol Syndrome (FAS). The control group consisted of 60 children (4-11 years old) developing normally. We compared 3 facial features (small palpebral fissure lengths, smooth philtrum and thin upper lip)...
April 30, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/28576462/platelet-rich-plasma-enriched-autologous-fat-graft-in-regenerative-and-aesthetic-facial-surgery-technical-note
#18
F Picard, B Hersant, S La Padula, J-P Meningaud
The goal of adding platelet-rich plasma (PRP) to autologous fat graft is to increase the survival rate of the graft. After their activation, platelets release some important growth factors. As a result, PRP may increase the proliferation and differentiation of Adipose-derived stem cells (ASCs) into adipocytes, improve fat graft vascularisation, and may block the apoptosis of grafted adipocytes. The other benefit expected from the addition of PRP to fat graft is the improvement of cutaneous trophicity above the grafted areas...
May 30, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#19
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28574197/cross-sectional-study-of-the-microbiological-safety-profile-of-reusing-hyaluronic-acid-fillers
#20
Rubens Pontello, Rogério Nabor Kondo, Priscila Daiane Pavezzi, Theo Nicolacopulos, Julia Pagung Kippert, Clarissa Lena
INTRODUCTION: Facial filling with hyaluronic acid (HA) is a dermatological procedure that has been emerging today. There are not many references regarding safety of reusing the remaining product for later touch-up in the same patient. OBJECTIVE: To determine the microbiological safety of reusing hyaluronic acid that is remnant from syringes used for facial filling, stored at room temperature or cooled in a refrigerator at 4°C. MATERIALS AND METHODS: In culture medium, small aliquots of leftovers from 31 hyaluronic acid fillers, previously used for facial filling, were inoculated...
June 2, 2017: Journal of Cosmetic Dermatology
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