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https://www.readbyqxmd.com/read/28821767/identification-of-candidate-genes-for-devil-facial-tumour-disease-tumourigenesis
#1
Robyn L Taylor, Yiru Zhang, Jennifer P Schöning, Janine E Deakin
Devil facial tumour (DFT) disease, a transmissible cancer where the infectious agent is the tumour itself, has caused a dramatic decrease in Tasmanian devil numbers in the wild. The purpose of this study was to take a candidate gene/pathway approach to identify potentially perturbed genes or pathways in DFT. A fusion of chromosome 1 and X is posited as the initial event leading to the development of DFT, with the rearranged chromosome 1 material now stably maintained as the tumour spreads through the population...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821134/graphene-cyclodextrin-based-nanocomposite-hydrogel-with-enhanced-strength-and-thermo-responsive-ability
#2
Pang Zhu, Yonghong Deng, Chaoyang Wang
Dual crosslinked system has been proved to be an efficient method to obtain tough and high strength hydrogels. Herein, we synthesized a novel graphene oxide/p(acrylamide-co-poly(ethylene glycol) methyl ether methacrylate)/α-cyclodextrin (GO/P(AM-co-PEGMA)/CD) physical dual crosslinked hydrogel via copolymerization of AM and PEGMA in the α-CD/GO solution. The polymer main chains adsorb onto the GO surface resulting in the first crosslinked system and multiple hydrogen bonds between α-CDs that thread on the PEGMA side chains establish the second crosslinked system...
October 15, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28820843/cephalometric-predictors-of-clinical-severity-in-treacher-collins-syndrome
#3
Elcin Esenlik, Natalie M Plana, Barry H Grayson, Roberto L Flores
BACKGROUND: The aim of this study is to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins Syndrome (TCS). METHODS: A retrospective single-institutional review of patients with TCS was conducted. Pre-operative cephalograms and computed tomography scans (n=30) were evaluated. 50 cephalometric measurements were compared to age-specific normative data using ANOVA. These cephalometric measurements and the patient's Pruzansky classification were correlated to clinical severity using Spearman analysis...
August 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28820756/telmesani-radiological-classification-of-the-location-of-the-vertical-segment-of-the-facial-nerve-impact-on-surgical-approach-in-cochlear-implant-surgery
#4
Laila Mohammed Telmesani, Mona Khalid Alrammah
OBJECTIVE: This study was conducted to establish a radiological classification of the location of the vertical segment of the facial nerve (VSFN) and to see if this has implications on the surgical technique needed to access the round window niche (RWN) in cochlear implant (CI) surgery. STUDY DESIGN: Observational case series study. SETTING: Tertiary referral center. PATIENTS: One hundred twenty seven patients underwent CI surgery, and high resolution computed tomography (HRCT) of 140 temporal bones was studied...
August 17, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28820301/translabyrinthine-microsurgical-resection-of-small-vestibular-schwannomas
#5
Marc S Schwartz, Gregory P Lekovic, Mia E Miller, William H Slattery, Eric P Wilkinson
OBJECTIVE Translabyrinthine resection is one of a number of treatment options available to patients with vestibular schwannomas. Though this procedure is hearing destructive, the authors have noted excellent clinical outcomes for patients with small tumors. The authors review their experience at a tertiary acoustic neuroma referral center in using the translabyrinthine approach to resect small vestibular schwannomas. All operations were performed by a surgical team consisting of a single neurosurgeon and 1 of 7 neurotologists...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28819517/dental-dermatological-and-radiographic-findings-in-a-case-of-gorlin-goltz-syndrome-report-and-review
#6
Kumar Nilesh, Shivsagar Tewary, Sameer Zope, Jinesh Patel, Aaditee Vande
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819359/screening-for-cushing-syndrome-at-the-primary-care-level-what-every-general-practitioner-must-know
#7
REVIEW
Ernest Yorke, Yacoba Atiase, Josephine Akpalu, Osei Sarfo-Kantanka
Cushing's syndrome is a rare entity, and a high index of suspicion is needed for screening in a primary care setting. The clinical awareness of the primary care physician (PCP) to the highly indicative signs and symptoms such as facial plethora, proximal myopathy, reddish purple striae, and easy bruisability should alert him to look for biochemical evidence of Cushing's syndrome through any of the first-line screening tests, namely, 24-hour urinary free cortisol, overnight dexamethasone suppression test, or late-night salivary cortisol...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28819079/-an-adult-case-of-enterovirus-d68-encephalomyelitis-presenting-as-bilateral-facial-nerve-palsy-and-dysphagia
#8
Yuta Kusabe, Akari Takeshima, Azusa Seino, Mana Nishida, Mami Takahashi, Shota Yamada, Junsuke Shimbo, Aki Sato, Kouichirou Okamoto, Shuichi Igarashi
A 33-year-old man was admitted to our hospital with bilateral facial nerve paralysis, dysphagia, and muscle weakness in the neck and trunk following fever, headache and throat pain. T<sub>2</sub>-weighted brain magnetic resonance imaging (MRI) showed hyperintense lesions in the tegmentum of the brain stem and the ventral region of the superior cervical cord. Based on the characteristic findings on the brain MRI, we diagnosed the patient with enteroviral encephalomyelitis. Steroid therapy was administered; however, his bilateral facial nerve paralysis and dysphagia were refractory to this therapy...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#9
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28818539/playing-a-rigged-game-inequality-s-effect-on-physiological-stress-responses
#10
Martin S Shapiro, Rhanda Rylant, Amanda de Lima, Andrea Vidaurri, Herman van de Werfhorst
High income and wealth inequality corresponds with high rates of various health and social problems. One possible factor that could be contributing to this correlation is stress experienced by those being treated unfairly in an unequal society. The present experiment attempted to simulate aspects of income inequality in a lab setting while recording several measures of stress. Participants (n=96) were assigned to one of four groups and played a memory game against a confederate opponent to earn "money" to spend in a lab market...
August 14, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28818510/breathing-mode-influence-on-craniofacial-development-and-head-posture
#11
Annel Chambi-Rocha, Maria Eugenia Cabrera-Domínguez, Antonia Domínguez-Reyes
OBJECTIVE: The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing (NB) and oral breathing (OB) children and teenagers with a normal facial growth pattern. METHOD: Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated...
August 14, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#12
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28817607/computer-aided-position-planning-of-miniplates-to-treat-facial-bone-defects
#13
Jan Egger, Jürgen Wallner, Markus Gall, Xiaojun Chen, Katja Schwenzer-Zimmerer, Knut Reinbacher, Dieter Schmalstieg
In this contribution, a software system for computer-aided position planning of miniplates to treat facial bone defects is proposed. The intra-operatively used bone plates have to be passively adapted on the underlying bone contours for adequate bone fragment stabilization. However, this procedure can lead to frequent intra-operatively performed material readjustments especially in complex surgical cases. Our approach is able to fit a selection of common implant models on the surgeon's desired position in a 3D computer model...
2017: PloS One
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#14
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816793/unexpected-effect-of-propranolol-and-prednisolone-on-infantile-facial-rhabdomyosarcoma
#15
Rojina Shilpakar, Gottfried Lemperle, Thomas Mentzel
A 14-month-old Nepalese infant had developed a rapidly growing facial tumor originating from a dark spot on her upper eyelid. A cavernous hemangioma was suspected and treated with high doses of propranolol and prednisolone. Remission was dramatic. Histology confirmed alveolar rhabdomyosarcoma. Chemotherapy was planned but not carried out due to complicated logistics. The girl died at the age of 3. We present this case for discussion as to whether propranolol and prednisolone might be effective in rapidly growing rhabdomyosarcomas...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28816772/a-case-of-lenticulostriate-stroke-due-to-minor-closed-head-injury-in-a-2-year-old-child-role-of-mineralizing-angiopathy
#16
Emin Fidan, Dana D Cummings, Mioara D Manole
OBJECTIVE: Cerebral infarction due to minor head injury is rare. Mineralizing angiopathy is considered a predisposing factor for lenticulostriate stroke after minor closed head injury. This entity is characterized by infarction of the basal ganglia and most often occurs in young children, from infancy to 2 years of age. Symptoms usually occur immediately after the injury. METHODS AND RESULTS: We present the case of a previously healthy 2-year-old female child presenting with right facial hemiparesis and aphasia, along with right arm and leg weakness that occurred immediately after a fall from the couch onto a carpeted floor...
July 3, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28816718/double-composite-tissue-z-plasty-technique-for-anatomical-restoration-of-severe-nasal-deformity-in-secondary-unilateral-cleft-lip
#17
Jiao Wei, Tanja Herrler, Hua Xu, Qingfeng Li, Chuanchang Dai
BACKGROUND: Patients with secondary unilateral cleft lip are regularly affected by serious nasal deformities especially of the alar and nasal floor. A large number of techniques for correction have been published, but symmetrical restoration of severe nasal deformation is difficult to achieve. We propose an innovative approach for anatomical restoration for this entity of nasal deformities to achieve long-term symmetrical appearance and muscular function. METHODS: A total of 68 patients with severe nasal deformity due to secondary unilateral cleft lip underwent reconstructive surgery using a double composite tissue Z-plasty technique for anatomical restoration of cartilage, muscle, and soft tissue layers...
August 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#18
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815893/the-facial-morphology-in-down-syndrome-a-3d-comparison-of-patients-with-and-without-obstructive-sleep-apnea
#19
Yasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, Lauren Voelz, Gil Weintraub, Dennis Rosen, Brian G Skotko
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815892/preaxial-polydactyly-in-an-individual-with-wiedemann-steiner-syndrome-caused-by-a-novel-nonsense-mutation-in-kmt2a
#20
Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co-workers identified heterozygous mutations in KMT2A (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood...
August 16, 2017: American Journal of Medical Genetics. Part A
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