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Facial growth

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https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#1
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#2
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27916515/oestrogen-and-anti-androgen-therapy-for-transgender-women
#3
REVIEW
Vin Tangpricha, Martin den Heijer
Transgender women experience lifelong gender dysphoria due to a gender assignment at birth that is incongruent with their gender identity. They often seek hormone therapy, with or without surgery, to improve their gender dysphoria and to better align their physical and psychological features with a more feminine gender role. Some of the desired physical changes from oestrogen and anti-androgen therapy include decreased body and facial hair, decreased muscle mass, breast growth, and redistribution of fat. Overall the risks of treatment are low, but include thromboembolism, the risk of which depends on the dose and route of oestrogen administration...
December 1, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27916205/efficacy-and-safety-of-transdermal-testosterone-in-postmenopausal-women-with-hypoactive-sexual-desire-disorder-a-systematic-review-and-meta-analysis
#4
Chiara Achilli, Jyotsna Pundir, Parimalam Ramanathan, Luca Sabatini, Haitham Hamoda, Nick Panay
OBJECTIVE: To systematically review and summarize the existing evidence related to the efficacy and safety of transdermal T in postmenopausal women for the treatment of hypoactive sexual desire disorder (HSDD). DESIGN: Systematic reviews and meta-analysis. SETTING: Not applicable. PATIENT(S): Seven randomized controlled trials enrolled 3,035 participants; 1,350 women were randomized to treatment with T patch, and 1,379 women were randomized to placebo...
December 1, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#5
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27912751/anti-aging-and-tyrosinase-inhibition-effects-of-cassia-fistula-flower-butanolic-extract
#6
Pornngarm Limtrakul, Supachai Yodkeeree, Pilaiporn Thippraphan, Wanisa Punfa, Jatupol Srisomboon
BACKGROUND: Natural products made from plant sources have been used in a variety of cosmetic applications as a source of nutrition and as a whitening agent. The flowers of Cassia fistula L, family Fabaceae, have been used as a traditional medicine for skin diseases and wound healing and have been reported to possess anti-oxidant properties. The anti-aging effect of C. fistula flower extract on human skin fibroblast was investigated. METHODS: The butanolic extraction of C...
December 3, 2016: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#7
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27904271/histologic-evidence-of-new-collagen-formulation-using-platelet-rich-plasma-in-skin-rejuvenation-a-prospective-controlled-clinical-study
#8
Ozlem Karabudak Abuaf, Hamza Yildiz, Hüseyin Baloglu, Memet Ersan Bilgili, Hasan Aktug Simsek, Bilal Dogan
BACKGROUND: Platelet-rich plasma (PRP) is an autologous concentration of human platelets contained in a small volume of plasma and has recently been shown to accelerate rejuvenate aging skin by various growth factors and cell adhesion molecules. OBJECTIVE: This study was conducted to evaluate the efficacy and safety of intradermal injection of PRP in the human facial rejuvenation. METHODS: This study was a prospective, single-center, single-dose, open-label, non-randomized controlled clinical study...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27903183/stereotactic-radiosurgery-for-vestibular-schwannomas-average-10-year-follow-up-results-focusing-on-long-term-hearing-preservation
#9
Shinya Watanabe, Masaaki Yamamoto, Takuya Kawabe, Takao Koiso, Tetsuya Yamamoto, Akira Matsumura, Hidetoshi Kasuya
OBJECTIVE The aim of this study was to reappraise long-term treatment outcomes of stereotactic radiosurgery (SRS) for vestibular schwannomas (VSs). The authors used a database that included patients who underwent SRS with a unique dose-planning technique, i.e., partial tumor coverage designed to avoid excess irradiation of the facial and cochlear nerves, focusing on tumor control and hearing preservation. Clinical factors associated with post-SRS tumor control and long-term hearing preservation were also analyzed...
December 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#10
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/27900779/mosaic-nras-q61r-mutation-in-a-child-with-giant-congenital-melanocytic-naevus-epidermal-naevus-syndrome-and-hypophosphataemic-rickets
#11
R Ramesh, N Shaw, E K Miles, B Richard, I Colmenero, C Moss
The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous-skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy)...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27898606/facial-nerve-meningioma-a-cause-of-pediatric-facial-weakness
#12
Nicholas L Deep, Sharon H Gnagi, David F Carpentieri, P David Adelson, Peter A Weisskopf
OBJECTIVE: To present an unusual case of a temporal bone meningioma with intrafascicular spread throughout the temporal facial nerve from cerebellopontine angle (CPA) to stylomastoid foramen. PATIENT: Four-year-old female with progressive facial weakness and normal hearing. MAIN OUTCOME MEASURE: Clinical, radiological, and histopathological findings of temporal bone meningiomas. RESULTS: A patient presented with progressive facial weakness and normal hearing...
November 24, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27896327/a-case-of-mediastinitis-accompanied-with-hyperosmolar-nonketotic-coma
#13
Mazhar Muslum Tuna, Faruk Kilinc, Zafer Pekkolay, Hikmet Soylu, Alpaslan Kemal Tuzcu
Mediastinitis is a serious infection involving mediastinal spaces after cervical infections spread along the facial planes. A late diagnosis of mediastinitis may result in death. Here we present a diabetic patient suffered from mediastinit accompanied with hyperosmolar nonketotic coma. A 61 years old male patient with type 2 diabetes was admitted to our hospital, with complaint of generalized worsening and fever. A diagnosis of nonketotic hyperosmolar coma was done and proper treatment started immediately. Neck tomography revealed abscess formation in the upper mediastinum...
June 2016: Turkish Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27896214/a-case-of-severe-mandibular-retrognathism-with-bilateral-condylar-deformities-treated-with-le-fort-i-osteotomy-and-two-advancement-genioplasty-procedures
#14
Masahiro Nakamura, Takeshi Yanagita, Tatsushi Matsumura, Takashi Yamashiro, Seiji Iida, Hiroshi Kamioka
We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion...
November 2016: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/27891478/customized-modified-haas-palatal-expansion-in-mixed-dentition-a-case-report
#15
Ziauddin Mohammad, Sampath Reddy Cheruku, Sarada Penmetcha, Srinivas Namineni, Phani Himaja Devi Vaaka
The dental arch perimeter and transpalatal width are the most significant arch dimensions in the developing individuals. Its management during the primary, mixed and early permanent dentition are greatly important for the normal development of the dental arches and significantly improve the occlusion in adulthood. Malocclusion is a constant source of threat to the facial appearance. Severe anterior crowding and narrow maxillary arches adversely affect the smile, facial profile and consequently patient becomes handicapped socially as well as psychologically...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27890227/emerging-biomaterials-in-trauma
#16
REVIEW
Kirollos E Zakhary, Jayini S Thakker
Emerging technologies and research into the science of biomaterials have developed exponentially and provide facial reconstructive surgeons with a plethora of options for a multitude of varying presentations. This article presents a comprehensive discussion in the ever-evolving field of material science and emerging biomaterials. A complete understanding of the current status of such materials is necessary for the appropriate incorporation and applicability to adequate clinical situations. The rapid progress seen in biomaterials is evidenced through the forward direction of bioengineered tissues, the incorporation of growth factors in varying scenarios, and the unique characteristics of 3-D printing of patient specific scaffolds...
February 2017: Oral and Maxillofacial Surgery Clinics of North America
https://www.readbyqxmd.com/read/27888671/sclerosing-polycystic-adenosis-of-the-parotid-gland-a-systematic-review-and-report-of-2-new-cases
#17
Carlos A Espinosa, Laura Rua, Héctor E Torres, Álvaro Fernández Del Valle, Rui P Fernandes, Juan C Devicente
PURPOSE: We sought to evaluate clinical-epidemiologic aspects, pathologic characteristics, and treatment of sclerosing polycystic adenosis (SPA) of the parotid gland and to report 2 new cases. MATERIALS AND METHODS: We conducted a systematic review following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines for studies published in or before June 2016. The inclusion criteria were as follows: final diagnosis of SPA affecting the parotid gland and articles published in Spanish or English...
November 2, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27882508/regional-early-development-and-eruption-of-permanent-teeth-case-report
#18
A M Al Mullahi, A Bakathir, S Al Jahdhami
BACKGROUND: Early development and eruption of permanent teeth are rarely reported in scientific literature. Early eruption of permanent teeth has been reported to occur due to local factors such as trauma or dental abscesses in primary teeth, and in systemic conditions. Congenital diffuse infiltrating facial lipomatosis (CDIFL) is a rare condition that belongs to a group of lipomatosis tumours. In this disorder, the mature adipocytes invade adjacent soft and hard tissues in the facial region...
November 23, 2016: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/27873347/infantile-hemangioma-with-minimal-or-arrested-growth-further-observations-on-clinical-and-histopathologic-findings-of-this-unique-but-underrecognized-entity
#19
Ellen Hui Ma, Susan J Robertson, Chung W Chow, Philip S Bekhor
BACKGROUND: Infantile hemangioma (IH) with minimal or arrested growth (IH-MAG) is becoming increasingly recognized in the literature. It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic abnormalities; eye anomalies) syndrome or Sturge-Weber syndrome is suspected...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27871712/treatment-with-twin-block-appliance-followed-by-fixed-appliance-therapy-in-a-growing-class-ii-patient
#20
Keun-Young Lee, Jae Hyun Park, Kiyoshi Tai, Jong-Moon Chae
A girl, aged 11 years 4 months, with a skeletal Class II pattern and a severe overjet (10 mm) was treated with a Twin-block appliance. After 9 months of appliance therapy, the skeletal Class II was overcorrected. After 26 months of retention, when the occlusion was stable and the growth rate was diminishing, fixed orthodontic appliances using temporary skeletal anchorage devices were initiated. The total active treatment time with fixed orthodontic appliances was 30 months. Posttreatment records after 18 months demonstrated excellent stability: a functional occlusion and a pleasing facial balance...
November 2016: American Journal of Orthodontics and Dentofacial Orthopedics
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