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https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#1
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
March 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28341828/variants-in-the-host-genome-may-inhibit-tumour-growth-in-devil-facial-tumours-evidence-from-genome-wide-association
#2
Belinda Wright, Cali E Willet, Rodrigo Hamede, Menna Jones, Katherine Belov, Claire M Wade
Devil facial tumour disease (DFTD) has decimated wild populations of Tasmanian devils (Sarcophilus harrisii) due to its ability to avoid immune detection and pass from host to host by biting. A small number of devils have been observed to spontaneously recover from the disease which is otherwise fatal. We have sequenced the genomes of these rare cases and compared them to the genomes of devils who succumbed to the disease. Genome-wide association, based on this limited sampling, highlighted two key genomic regions potentially associated with ability to survive DFTD...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28336541/unilateral-nasal-obstruction-affects-motor-representation-development-within-the-face-primary-motor-cortex-in-growing-rats
#3
Yasunori Abe, Chiho Kato, Karin Harumi Uchima Koecklin, Hidemasa Okihara, Takayoshi Ishida, Koichi Fujita, Tadachika Yabushita, Satoshi Kokai, Takashi Ono
Postnatal growth is influenced by genetic and environmental factors. Nasal obstruction during growth alters the electromyographic activity of orofacial muscles. The facial primary motor area represents muscles of the tongue and jaw, which are essential in regulating orofacial motor functions, including chewing and jaw opening. This study aimed to evaluate the effect of chronic unilateral nasal obstruction during growth on the motor representations within the face primary motor cortex (M1). Seventy-two 6-day-old male Wistar rats were randomly divided into control (n = 36) and experimental (n = 36) groups...
March 23, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28334461/profile-of-children-diagnosed-with-a-fetal-alcohol-spectrum-disorder-a-retrospective-chart-review
#4
Natasha Reid, Doug Shelton, Judith Warner, Frances O'Callaghan, Sharon Dawe
INTRODUCTION AND AIMS: Fetal alcohol spectrum disorder (FASD) is a significant public health concern, and growing recognition in Australia led to the establishment of a specialist service for young children. The aim of the current study was to report on the diagnostic profile of a group of children who attended the service, to document the extent to which there were comorbid diagnoses and to provide information on the neurocognitive functioning of the children. DESIGN AND METHODS: This study was a retrospective chart review conducted by the diagnostic service...
March 23, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#5
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#6
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28317556/skull-5-from-dmanisi-descriptive-anatomy-comparative-studies-and-evolutionary-significance
#7
G Philip Rightmire, Marcia S Ponce de León, David Lordkipanidze, Ann Margvelashvili, Christoph P E Zollikofer
A fifth hominin skull (cranium D4500 and mandible D2600) from Dmanisi is massively constructed, with a large face and a very small brain. Traits documented for the first time in a basal member of the Homo clade include the uniquely low ratio of endocranial volume to basicranial width, reduced vertex height, angular vault profile, smooth nasal sill coupled with a long and sloping maxillary clivus, elongated palate, and tall mandibular corpus. The convex clivus and receding symphysis of skull 5 produce a muzzle-like form similar to that of Australopithecus afarensis...
March 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28316918/an-evaluation-of-craniofacial-growth-pattern-in-north-indian-children
#8
Vivek Mehta, R K Pandey
OBJECTIVE: The aim of this study was to assess craniofacial growth pattern in children with generalized decreased skeletal age and compare it with the children having normal skeletal age. MATERIALS AND METHODS: Lateral cephalograms and hand wrist radiographs of 40 patients (age group 3-14 years) were taken and skeletal age assessment was done with hand wrist radiographs according to Greulich and Pyle, based on which two groups were made, Group A - Control group (normal skeletal age) and Group B - study group (decreased skeletal age)...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#9
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28297090/the-mandibular-muscles-in-contemporary-orthodontic-practice-a-review
#10
M G Woods
It is widely accepted that all dentists should have a thorough understanding of the muscles involved in moving or stabilizing the mandible. However, there is still much discussion regarding the influence of the mandibular muscles on normal facial growth and dental development, as well as on orthodontic treatment and post-treatment stability. Potential patients with different underlying vertical muscle patterns will have differences in the expected directions of future mandibular growth, lateral profile shape, facial and arch widths and vertical occlusal relationships...
March 2017: Australian Dental Journal
https://www.readbyqxmd.com/read/28296520/facial-intramuscular-lipoma-occurrence-following-topical-cosmetic-injection-with-a-mixture-of-basic-fibroblast-growth-factor-a-report-of-two-cases
#11
Xuan Liao, Zhi-Dan Zhang, Sheng-Hong Li, Li-Ling Xiao, Jin-Qiang Lu, Bo Xie, Hong-Wei Liu
Growth factors and cytokines control cell growth, proliferation and differentiation via a network of inter- and intracellular signalling pathways, and are involved in skin self-renewing and wound healing. In recent years, topical and injectable growth factors and cytokines have emerged as an intriguing therapeutic modality that can be harnessed for aesthetic purposes. However, very little data are available on their long-term safety and tolerability. In this report, we describe two cases of patients, who developed intramuscular lipoma of the chin following topical injection with a mixture of basic fibroblast growth factor as the main ingredients for chin augmentation...
February 16, 2017: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
https://www.readbyqxmd.com/read/28296336/a-comprehensive-study-of-palate-development-in-miniature-pig
#12
Lindong Sun, Jiangyi Wang, Huina Liu, Zhipeng Fan, Songlin Wang, Juan Du
Palate development is an important morphogenetic event in facial development, including the fusion of the lateral and medial nasal portions of the frontonasal process and maxilla. Derailments of any of these events may result in cleft palate, the most frequent congenital craniofacial abnormality. Recent research has shown that the microanatomy of the miniature pig oral maxillofacial region is quite similar to that of humans, and the use of miniature pigs as a large animal model for dental and orofacial research is increasing...
March 15, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28295158/first-trimester-ultrasound-tests-alone-or-in-combination-with-first-trimester-serum-tests-for-down-s-syndrome-screening
#13
REVIEW
S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Having a baby with Down's syndrome is likely to have a significant impact on family life...
March 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28287946/mr-imaging-of-the-temporomandibular-joint-in-juvenile-idiopathic-arthritis-technique-and-findings
#14
María Navallas, Emilio J Inarejos, Estíbaliz Iglesias, Gui Youn Cho Lee, Natalia Rodríguez, Jordi Antón
The term juvenile idiopathic arthritis (JIA) encompasses a group of arthritides of unknown cause that begin before 16 years of age and last for at least 6 weeks. Temporomandibular joint (TMJ) involvement has been described in up to 87% of children with JIA and has been associated with all JIA subtypes. TMJ involvement is difficult to detect clinically. In one study, 71% of JIA patients with active TMJ synovitis were asymptomatic and 63% had normal physical examination results. Moreover, the main growth center of the mandible is located in the condyle, separated from the joint space by only a thin layer of fibrocartilage...
March 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28281478/single-port-laparoscopic-splenectomy-for-wandering-spleen-with-splenomegaly-in-a-patient-with-wolf-hirschhorn-syndrome
#15
Ricardo Zorron, Silvio Henriques Cunha, Mariana Caetano Barreto, Henrique Neubarth Phillips
Wolf-Hirschhorn syndrome is a rare genetic condition characterized by typical facial appearance, growth delay, psychomotor retardation and seizures, with a mosaic of other abnormalities reported in the literature. The occurrence of symptomatic wandering spleen with massive splenomegaly and with an indication for splenectomy has not been yet described for this disease. This study reports the first case in the literature of single port splenectomy for this rare condition. In a 21-year-old female patient with Wolf-Hirschhorn syndrome, with abdominal pain and the diagnosis of wandering spleen with splenomegaly (25 cm diameter) led to an indication of elective splenectomy...
April 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28280893/aesthetic-eyebrow-reconstruction-with-an-expanded-scalp-island-flap-pedicled-by-the-superficial-temporal-artery
#16
Xing Yuan Pang, Jun Ren, Wei Xu, Rui Wan, Wei Yuan, Ying Shu
PURPOSE: This case study demonstrates a new operative method of eyebrow reconstruction, in which the hair density of the reconstructed eyebrow is controlled by the surgeon and is more similar to that of the uninjured side, resulting in a more natural facial expression and greater aesthetic value for our patients. MATERIALS AND METHODS: The operation was divided into two stages: Stage 1: Implantation of a soft tissue expander into the corresponding subgaleal position of the parietal branch of the superficial temporal artery on the injured side, followed by dilation of the expander until the density of the hair on the expanded scalp reached a suitable value and was lower than that of the uninjured eyebrow...
March 9, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28277486/adult-quality-of-life-postcleft-palate-repair-a-comparison-of-two-techniques
#17
Rachel Skladman, Lynn Marty Grames, Gary Skolnick, Dennis C Nguyen, Sybill D Naidoo, Kamlesh B Patel, Jeffrey L Marsh, Albert S Woo
BACKGROUND AND PURPOSE: In 1989, the Cleft Palate-Craniofacial Journal published the first randomized prospective cleft surgery study, comparing the Kriens intravelar veloplasty (IVV) with a non-IVV 2-flap repair. Results in that and follow-up publications yielded no difference between the 2 groups for need for secondary velopharyngeal management. The subjects have now reached adulthood. This study was designed to ask: Is there any difference between the groups in the outcomes that multidisciplinary team care addresses: speech intelligibility, facial growth, breathing while awake and asleep, attainment of education, and long-term socioeconomic status? METHODS: Enrollees from the original published study were invited to participate in a survey...
March 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28275794/-relationship-between-upper-airway-and-cranial-facial-growth-patterns-in-adolescents-with-normal-occlusion
#18
Qi-Feng Zhang, Li Jin, Hua Yao, Zhi-Yong Li, Xu Huang, Hui-Ming Wang
PURPOSE: To investigate the relationship between upper airway and cranial-facial growth pattern among teenagers with normal occlusion. METHODS: The study subjects consisted of 52 boys and 64 girls with normal occlusion. Their cephalometric radiographs were obtained. The sagittal diameter of upper airway was analyzed according to gender and different growth pattern. The relationship of upper airway diameter and cranial-facial formation was evaluated by stepwise regression analysis using SPSS 21...
December 2016: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#19
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28265473/treatment-of-class-iii-malocclusion-atypical-extraction-protocol
#20
Fernando Pedrin Carvalho Ferreira, Maiara da Silva Goulart, Renata Rodrigues de Almeida-Pedrin, Ana Claudia de Castro Ferreira Conti, Maurício de Almeida Cardoso
The treatment of Angle Class III malocclusion is rather challenging, because the patient's growth pattern determines the success of long-term treatment. Early diagnosis and treatment are still highly discussed issues in orthodontic literature. This type of early intervention has been indicated more frequently in order to eliminate primary etiological factors and prevent an already present malocclusion from becoming severe. However, when a patient is diagnosed in adulthood, manipulation of the bone bases becomes extremely limited, as there is no longer any potential for growth...
2017: Case Reports in Dentistry
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