keyword
MENU ▼
Read by QxMD icon Read
search

Facial growth

keyword
https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#1
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29134166/anterior-extension-of-tumor-is-as-important-as-tumor-size-to-facial-nerve-outcome-and-extent-of-resection-for-vestibular-schwannomas
#2
Ricky H Wong, William R Copeland, Jeffrey T Jacob, Sananthan Sivakanthan, Jamie J Van Gompel, Harry van Loveren, Michael J Link, Siviero Agazzi
Objectives  We examined vestibular schwannoma tumor dimension and direction of growth to determine whether these correlate with facial nerve outcome as well as extent of resection (EOR). Design  Retrospective review of prospectively maintained databases. Participants  206 patients were a part of this study. Main Outcome Measures  Tumor dimensions were measured using preoperative magnetic resonance imaging, and a series of ratios were then calculated to further characterize tumor dimension. Regression analyses were performed to investigate correlation with facial nerve outcome and EOR...
December 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29132490/rehabilitation-of-a-complex-oro-facial-defect-by-modified-prosthetic-approach
#3
Saumyendra V Singh, Himanshi Aggarwal, Vinit Shah, Pradeep Kumar, Deeksha Arya
Loss of part of the face is associated with physical disability, social isolation and immense psychological trauma. Proper rehabilitation of such a patient is a challenging yet satisfying task for a maxillofacial prosthodontist. Facial prostheses are commonly fabricated of silicone because of many favorable properties, though it predisposes to fungal growth.This report is of a patient with history of uncontrolled diabetes and associated invasive fungal infection, leading to a complex oro-facial defect, which was rehabilitated successfully with a silicone facial prosthesis lined by a material more resistant to fungal growth along with a cast partial obturator...
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29130677/-dermoscopy-study-on-the-effects-of-gold-microacupuncture-hyaluronic-acid-injection-and-rb-bfgf-to-treat-facial-rejuvenation
#4
Ge Su, Xun Zhou
OBJECTIVE: To explore the dermoscopic changes facial rejuvenation after the combination therapy of gold microacupuncture,Hyaluronic acid (HA) injection,and recombinant bovine alkaline fibroblast growth factor (rbbFGF). METHODS: Twenty cases of patients (age from 30 to 55 yearold) with facial skin naturally aging were included. The patients received multisource radio frequency therapeutic apparatus for injection at the subbermaldermal levels from 1316 W. Noncrosslinking HA of 2 mL was injected in the upper dermis...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#5
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#6
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29125402/adolescent-internal-condylar-resorption-aicr-of-the-temporomandibular-joint-part-1-a-review-for-diagnosis-and-treatment-considerations
#7
Larry M Wolford, Aluisio Galiano
Background Adolescent internal condylar resorption (AICR) is a temporomandibular joint (TMJ) pathology that develops predominately in teenage females during pubertal growth (onset between ages 11 and 15 years), with a distinct clinical, radiographic, and magnetic resonance imaging (MRI) presentation. Clinical and imaging presentation The condition usually occurs bilaterally with: (1) Progressive retrusion of the mandible; (2) High occlusal plane angle facial morphology; (3) Worsening Class II occlusion; and (4) TMJ symptoms such as pain, headaches, noises, etc...
November 10, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/29119279/mechanical-stress-promotes-matrix-synthesis-of-mandibular-condylar-cartilage-via-the-rkip-erk-pathway
#8
Lian Sun, Jing Zhao, Hua Wang, Yongchu Pan, Lin Wang, Wei-Bing Zhang
Mandibular hypoplasia is a common jaw deformity that affects breathing, occlusal function and facial aesthetics. Stimulating mandibular condylar growing with functional appliances is an ordinary but controversial treatment method in orthodontics. Therefore, it is vital to clarify how functional appliances affect condylar growing. Raf-1 kinase inhibitor protein (RKIP), as an endogenous inhibitory molecule of the ERK signaling, is postulated to involve in stress-induced response to articular cartilage. This study was to reveal the role of RKIP in regulating cartilage matrix synthesis with functional appliance treatment...
November 8, 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/29114430/clinical-and-radiographic-features-of-parry-romberg-syndrome
#9
Mithula Nair, Vidya Ajila, Shruthi Hegde, G Subhas Babu, Rumela Ghosh
Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months...
2017: J Istanb Univ Fac Dent
https://www.readbyqxmd.com/read/29104116/putative-roles-of-soluble-trophic-factors-in-facial-nerve-regeneration-target-reinnervation-and-recovery-of-vibrissal-whisking
#10
REVIEW
Habib Bendella, Svenja Rink, Maria Grosheva, Levent Sarikcioglu, Tessa Gordon, Doychin N Angelov
It is well-known that, after nerve transection and surgical repair, misdirected regrowth of regenerating motor axons may occur in three ways. The first way is that the axons enter into endoneurial tubes that they did not previously occupy, regenerate through incorrect fascicles and reinnervate muscles that they did not formerly supply. Consequently the activation of these muscles results in inappropriate movements. The second way is that, in contrast with the precise target-directed pathfinding by elongating motor nerves during embryonic development, several axons rather than a single axon grow out from each transected nerve fiber...
November 8, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29103943/from-oral-facial-dysfunction-to-dysmorphism-and-the-onset-of-pediatric-osa
#11
REVIEW
Christian Guilleminault, Yu-Shu Huang
The upper airway is a collapsible tube, and its collapsibility increases during sleep. Extrinsic factors such as atypical craniofacial features may increase the risks of airway collapse. We review early development of oral-facial structures and the anatomical variants that may be present at birth and can impact nasal breathing. After birth, there is a continuous interaction between orofacial functions and growth of anatomic features. We review the dysfunctions identified to date that may impact orofacial development leading to sleep-disordered-breathing through changes in the orofacial growth...
July 6, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29100094/de-novo-mutations-in-slc25a24-cause-a-disorder-characterized-by-early-aging-bone-dysplasia-characteristic-face-and-early-demise
#12
Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B P van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli Del Arco, Raoul C Hennekam
A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected individuals showed that all carried the de novo missense variant c.649C>T (p.Arg217Cys) or c.650G>A (p...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29098570/intracranial-melanotic-schwannomas-a-rare-variant-with-unusual-adherent-features
#13
D Mahato, T Vivas-Buitrago, K Gassie, M Jentoft, D Tavanaiepour, A Quiñones-Hinojosa
Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). At that time, MRI of the brain showed a 1...
November 2, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29094891/fetal-alcohol-syndrome-and-fetal-alcohol-spectrum-disorders
#14
LeeAnne Denny, Sarah Coles, Robin Blitz
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. The percentage of women who drink or binge drink during pregnancy has increased since 2012. FAS is commonly missed or misdiagnosed, preventing affected children from receiving needed services in a timely fashion. Diagnosis is based on the presence of the following clinical features, all of which must be present: prenatal and/or postnatal growth retardation, facial dysmorphology, central nervous system dysfunction, and neurobehavioral disabilities...
October 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/29089786/can-laser-treatment-improve-quality-of-life-of-hirsute-women
#15
Narges Alizadeh, Sharad Ayyoubi, Mohammadreza Naghipour, Rasool Hassanzadeh, Zahra Mohtasham-Amiri, Shirin Zaresharifi, Kaveh Gharaei Nejad
BACKGROUND: Hirsutism can have negative impacts on psychosocial aspects of women's lives and reduce their quality of life (QOL). The aim of this study was to assess the QOL of these women during laser treatment. PATIENTS AND METHODS: Eighty-eight women with unwanted facial hair underwent laser therapy. Each patient completed a questionnaire consisting of a modified Dermatology Life Quality Index (DLQI) and visual analog scale (VAS) before the first, third, and fifth sessions of laser therapy...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/29080079/obeservations-on-association-between-third-molar-agenesis-and-craniofacial-morphology
#16
Yi Huang, Yinqiu Yan, Jing Cao, Bingjie Xie, Xueling Xiao, Mengqi Luo, Ding Bai, Xianglong Han
OBJECTIVE: This study was designed to examine the relationship between third molar agenesis and skeletal morphology in the Chinese population. MATERIALS AND METHODS: A total of 1043 patients' records were analyzed with panoramic radiographs and cephalograms. Congenitally missing third molars were assessed with respect to gender, jaw, and side, and assessed in various types of facial morphology. Linear, angular, and proportional cephalometric measurements were analyzed and compared among the samples...
November 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29075327/mosaic-upd-7q-mat-in-a-patient-with-silver-russell-syndrome
#17
Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. CASE PRESENTATION: We reported a second case of mosaic segmental UPD involving 7q...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29073101/utx-guided-neural-crest-function-underlies-craniofacial-features-of-kabuki-syndrome
#18
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29068938/pediatric-obstructive-sleep-apnea-consensus-controversy-and-craniofacial-considerations
#19
REVIEW
Ravi K Garg, Ahmed M Afifi, Catharine B Garland, Ruston Sanchez, Delora L Mount
Pediatric obstructive sleep apnea, characterized by partial or complete obstruction of the upper airway during sleep, is associated with multiple adverse neurodevelopmental and cardiometabolic consequences. It is common in healthy children and occurs with a higher incidence among infants and children with craniofacial anomalies. Although soft-tissue hypertrophy is the most common cause, interplay between soft tissue and bone structure in children with craniofacial differences may also contribute to upper airway obstruction...
November 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29066376/a-de-novo-mutation-in-rpl10-causes-a-rare-x-linked-ribosomopathy-characterized-by-syndromic-intellectual-disability-and-epilepsy-a-new-case-and-review-of-the-literature
#20
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault, Kristin D Kernohan, David A Dyment
Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p...
October 21, 2017: European Journal of Medical Genetics
keyword
keyword
115510
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"