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https://www.readbyqxmd.com/read/29352423/understanding-and-addressing-hair-disorders-in-transgender-individuals
#1
REVIEW
Yi Gao, Toby Maurer, Paradi Mirmirani
In the United States, an increasing number of individuals are identifying as transgender. Males at birth who identify as females are called male-to-female (MTF) transgender individuals or trans women, and females at birth who identify as males are called female-to-male (FTM) transgender individuals or trans men. The transgender patient population possess unique health concerns disparate from those of the general populace. Exogenous hormone therapy for transgender patients leads to changes in the distribution and pattern of hair growth...
January 19, 2018: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/29344066/diagnostic-challenge-sequential-unilateral-cranial-neuropathies-due-to-perineural-spread-of-carcinoma
#2
Heather E Moss, Peter W MacIntosh, Konstantin V Slavin, John M Collins
An 86-year old man developed sequential dysfunction of trigeminal (V1), facial, abducens, trigeminal (v2), oculomotor, and hypoglossal cranial nerves on the right over 20 months. Magnetic resonance imaging (MRI) showed a lesion in the right cavernous sinus. Although there was clinical suspicion that this was related to perineural spread of an extracranial tumour, a primary lesion was not discovered. Stereotactic biopsies of the intracranial lesion were non-diagnostic, and the patient succumbed to his tumour following a period of rapid growth...
August 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29342834/facial-bone-reconstruction-using-both-marine-or-non-marine-bone-substitutes-evaluation-of-current-outcomes-in-a-systematic-literature-review
#3
REVIEW
Marco Cicciù, Gabriele Cervino, Alan Scott Herford, Fausto Famà, Ennio Bramanti, Luca Fiorillo, Floriana Lauritano, Sergio Sambataro, Giuseppe Troiano, Luigi Laino
The aim of the present investigation was to systematically analyse the literature on the facial bone reconstruction defect using marine collagen or not and to evaluate a predictable treatment for their clinical management. The revision has been performed by searched MEDLINE and EMBASE databases from 2007 to 2017. Clinical trials and animal in vitro studies that had reported the application of bone substitutes or not for bone reconstruction defect and using marine collagen or other bone substitute material were recorded following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines...
January 13, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#4
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29338280/variable-skeletal-anatomical-features-of-acromegaly-in-the-skull-and-craniocervical-junction
#5
Maria Piagkou, Othon Manolakos, Theodore Troupis, Nikolaos Lazaridis, Konstantinos Laios, Alexandros Samolis, Konstantinos Natsis
OBJECTIVE: This study adds important information regarding the morphological alterations caused by growth hormone hypersecretion in the skull and craniocervical junction (CCJ). A variably asymmetric skull due to acromegaly coexists with expansion of the paranasal sinuses and multiple Wormian bones. CASE REPORT: A pathologically asymmetric dry skull of a European male, aged 38 years at death, with cranial vault and skull base thickening is described. The extensive paranasal sinus pneumatization caused a generalized thinning of the bony walls...
November 2017: Acta Medica Academica
https://www.readbyqxmd.com/read/29336655/reversible-cicatricial-ectropion-associated-with-egfr-inhibitors
#6
Stacy Scofield-Kaplan, James Todaro, Bryan J Winn
The management of cicatricial ectropion resulting from epidermal growth factor receptor (EGFR) inhibitors is unclear. We describe two cases of bilateral cicatricial ectropion following the use of an EGFR inhibitor who were treated with oral doxycycline, topical ophthalmic steroid and antibiotic ointment to the eyelids, and topical facial steroid cream with lubrication. The first case resolved with discontinuation of panitumumab infusions along with institution of the aforementioned regimen. However, it is unclear whether the resolution was from discontinuation of the infusions or from the instituted regimen...
January 16, 2018: Orbit
https://www.readbyqxmd.com/read/29331408/long-term-craniofacial-morphology-in-young-adults-treated-for-a-non-syndromal-uclp-a-systematic-review
#7
REVIEW
Isabelle F P M Kappen, Whitney R Yoder, Aebele B Mink van der Molen, Corstiaan C Breugem
Minimizing mid-facial growth impairment is one of the treatment goals in cleft lip and palate surgery. As growth of the maxilla extends into young adulthood, long-term evaluation is essential to make a comprehensive assessment of a treatment protocol. There are numerous treatment approaches for cleft lip/palate surgery, and most have the characteristic distinction between either an early or a late cleft palate closure. PRISMA guidelines were applied to explore the quality of the current literature and to identify treatment factors influencing long-term cephalometric outcomes...
December 13, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29327300/cant%C3%A3%C2%BA-syndrome-with-coexisting-familial-pituitary-adenoma
#8
Pedro Marques, Rupert Spencer, Patrick J Morrison, Ian M Carr, Mary N Dang, David T Bonthron, Steven Hunter, Márta Korbonits
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance...
January 11, 2018: Endocrine
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#9
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29302282/determinants-of-maxillary-canine-impaction-retrospective-clinical-and-radiographic-study
#10
Michele Laurenziello, Graziano Montaruli, Crescenzio Gallo, Michele Tepedino, Laura Guida, Letizia Perillo, Giuseppe Troiano, Lorenzo Lo Muzio, Domenico Ciavarella
Background: The aim of this study is to evaluate determinants of maxillary canine impaction taking into account both canine position related variables and the pattern of facial growth. Material and Methods: A retrospective clinical and radiographic analysis was carried out on 109 patients aged between 9 and 10 years at the time of first evaluation. At baseline, SN-GoMe angle, the interincisal angle, the canine angle α and the canine distance d were used to characterize canine location and vertical facial growth...
November 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29301317/correction-of-malocclusion-by-botulinum-neurotoxin-injection-into-masticatory-muscles
#11
REVIEW
Hyun Seok, Seong-Gon Kim
Botulinum toxin (BTX) is a neurotoxin, and its injection in masticatory muscles induces muscle weakness and paralysis. This paralytic effect of BTX induces growth retardation of the maxillofacial bones, changes in dental eruption and occlusion state, and facial asymmetry. Using masticatory muscle paralysis and its effect via BTX, BTX can be used for the correction of malocclusion after orthognathic surgery and mandible fracture. The paralysis of specific masticatory muscles by BTX injection reduces the tensional force to the mandible and prevents relapse and changes in dental occlusion...
January 2, 2018: Toxins
https://www.readbyqxmd.com/read/29291187/dentofacial-transverse-development-in-koreans-according-to-skeletal-maturation-a-cross-sectional-study
#12
Soonshin Hwang, Yoonjeong Noh, Yoon Jeong Choi, Chooryung Chung, Hye Sun Lee, Kyung-Ho Kim
Objective: The aim of this study was to establish the normative data of dentofacial transverse dimensions according to the skeletal maturation stage in Korean adolescents with good occlusion, assess gender differences and determine correlations between transverse variables. Methods: A total of 577 Korean subjects between ages 7 to 19 years and exhibiting skeletal Class I occlusion were categorized by skeletal maturation index (SMI) of Fishman using hand-wrist radiographs...
January 2018: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/29290679/heredity-genetics-and-orthodontics-how-much-has-this-research-really-helped
#13
James K Hartsfield, George Jeryn Jacob, Lorri Ann Morford
Uncovering the genetic factors that correlate with a clinical deviation of previously unknown etiology helps to diminish the unknown variation influencing the phenotype. Clinical studies, particularly those that consider the effects of an appliance or treatment regimen on growth, need to be a part of these types of genetic investigations in the future. While the day-to-day utilization of "testing" for genetic factors is not ready for practice yet, genetic testing for monogenic traits such as Primary Failure of Eruption (PFE) and Class III malocclusion is showing more promise as knowledge and technology advances...
December 2017: Seminars in Orthodontics
https://www.readbyqxmd.com/read/29281262/binding-of-zn-ii-to-tropomyosin-receptor-kinase-a-in-complex-with-its-cognate-nerve-growth-factor-insights-from-molecular-simulation-and-in-vitro-essays
#14
Adriana Pietropaolo, Antonio Magrì, Valentina Greco, Valeria Losasso, Diego La Mendola, Sebastiano Sciuto, Paolo Carloni, Enrico Rizzarelli
The binding of the human nerve growth factor (NGF) protein to the tropomyosin-receptor-kinase A (TrkA) is associated with Alzhemeir's development. Owing to the large presence of zinc(II) ions in the synaptic compartments, the zinc ions might be bound to the complex in vivo. Here, we have identified a putative zinc binding site using a combination of computations and experiments. First, we have predicted structural features of the NGF/TrkA complex in aqueous solution by molecular simulation. Metadynamics free energy calculations suggest that these are very similar to those in the X-ray structure...
December 27, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29281097/decision-making-in-the-wait-and-scan-approach-for-vestibular-schwannomas-is-there-a-price-to-pay-in-terms-of-hearing-facial-nerve-and-overall-outcomes
#15
Sampath Chandra Prasad, Uma Patnaik, Golda Grinblat, Annalisa Giannuzzi, Enrico Piccirillo, Abdelkader Taibah, Mario Sanna
BACKGROUND: The wait-and-scan modality has emerged as an important strategy in the management of vestibular schwannoma (VS) as it has been demonstrated that many tumors grow slowly or do not show any growth over long periods. OBJECTIVE: To analyze long-term outcomes of wait-and-scan in the treatment of patients with VS, discuss the factors contributing to the decision making, determine the inherent risks of the policy, and compare our results with literature. METHODS: In total, 576 patients with sporadic unilateral VS who were managed with wait-and-scan were reviewed retrospectively...
December 21, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29279723/diagnostics-and-therapy-of-vestibular-schwannomas-an-interdisciplinary-challenge
#16
REVIEW
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
2017: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/29241932/prenatal-diagnosis-of-an-8q22-2-q23-3-deletion-associated-with-bilateral-cleft-lip-and-palate-and-intrauterine-growth-restriction-on-fetal-ultrasound
#17
Chih-Ping Chen, Tung-Yao Chang, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound. CASE REPORT: A 29-year-old, primigravid woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46, XX. However, level II ultrasound at 21 weeks of gestation revealed a fetus with IUGR and bilateral cleft lip and palate...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29240854/upregulation-of-extracellular-matrix-genes-corroborates-clinical-efcacy-of-human-fibroblast-derived-growth-factors-in-skin-rejuvenation
#18
Kuniko Kadoya, Elizabeth T Makino, Lily I Jiang, Michael Bachelor, Robin Chung, Priscilla Tan, Tsing Cheng, Gail K Naughton, Rahul C Mehta
<p>Skin care products may use various active ingredients to support skin rejuvenation including growth factors and other molecules that help to regenerate extracellular matrix (ECM) and promote skin repair. The biological effect of skin care products with a strong anti-aging claim was assessed in gene expression analyses using an in vitro human skin model. Application of products containing human fbroblast-derived growth factors resulted in signifcant upregulation of genes encoding ECM components including collagens and elas-tin...
December 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29230941/a-child-with-myhre-syndrome-presenting-with-corectopia-and-tetralogy-of-fallot
#19
Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti-Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti-Pierri
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29226900/diffuse-hypoplasia-of-the-aortic-arch-and-isthmus-in-a-patient-with-williams-syndrome
#20
İsmihan Selen Onan, Erkut Öztürk, Aylin Demirel Başgöze, Ayse Çicek, Burak Onan
Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance. Cardiovascular abnormalities are present in approximately 80% of Williams syndrome patients. Surgical treatment is generally performed for supravalvular aortic stenosis, aortic coarctation, pulmonary artery stenosis, or ventricular septal defect. In rare cases, diffuse hypoplasia of the aortic arch with a normal left ventricular outflow tract and ascending aorta may be diagnosed in early childhood...
December 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
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