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Craniofacial growth

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https://www.readbyqxmd.com/read/28430896/evidence-of-secular-trend-in-mandibular-pubertal-growth
#1
Raphael Patcas, Daniel B Wiedemeier, Goran Markic, Philipp Beit, Heidi Keller
Background: During puberty, mandibular growth follows a growth curve comparable to somatic growth. This study aimed to review the relationship between mandibular pubertal peak height velocity (PHV) and skeletal age, and to investigate the possibility of a secular trend. Methods: Retrospective analysis was performed of two historical craniofacial growth studies (Denver Growth Study; observational time: 1943-1965, and Zurich Growth Study; observational time: 1982-1984) of healthy untreated subjects...
April 20, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28417904/zebrafish-as-an-alternative-vertebrate-model-for-investigating-developmental-toxicity-the-triadimefon-example
#2
Maria Zoupa, Kyriaki Machera
Triadimefon is a widely used triazole fungicide known to cause severe developmental defects in several model organisms and in humans. The present study evaluated in detail the developmental effects seen in zebrafish embryos exposed to triadimefon, confirmed and expanded upon previous phenotypic findings and compared them to those observed in other traditional animal models. In order to do this, we exposed embryos to 2 and 4 µg/mL triadimefon and evaluated growth until 120 h post-fertilization (hpf) through gross morphology examination...
April 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28391432/thyroxine-exposure-effects-on-the-cranial-base
#3
Emily Durham, R Nicole Howie, Trish Parsons, Grace Bennfors, Laurel Black, Seth M Weinberg, Mohammed Elsalanty, Jack C Yu, James J Cray
Thyroid hormone is important for skull bone growth, which primarily occurs at the cranial sutures and synchondroses. Thyroid hormones regulate metabolism and act in all stages of cartilage and bone development and maintenance by interacting with growth hormone and regulating insulin-like growth factor. Aberrant thyroid hormone levels and exposure during development are exogenous factors that may exacerbate susceptibility to craniofacial abnormalities potentially through changes in growth at the synchondroses of the cranial base...
April 8, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#4
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28384463/desmoplastic-fibroma-of-the-mandible-in-a-pediatric-patient-a-case-report-of-resection-and-reconstruction-with-a-six-year-follow-up
#5
Hernán Ramírez Skinner, Alex Vargas, Antonieta Solar, Camila Foncea, Paula Astorga
Desmoplastic fibroma (DF) of bone is considered a benign but locally aggressive tumor of fibroblastic origin. DF is rare, representing less than 1% of all bone tumors. Approximately 84% of patients are younger than 30 years. DF has a slow but aggressive growth potential and can recur locally when it has not been completely excised. Complete resection is the treatment of choice to decrease recurrence and morbidity. Mandibular reconstruction is mandatory in pediatric patients to ensure correct craniofacial development...
March 14, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28384239/induction-of-osteoblastic-differentiation-of-neural-crest-derived-stem-cells-from-hair-follicles
#6
Eri Urano-Morisawa, Masamichi Takami, Tetsuo Suzawa, Akifumi Matsumoto, Noriko Osumi, Kazuyoshi Baba, Ryutaro Kamijo
The neural crest (NC) arises near the neural tube during embryo development. NC cells migrate throughout the embryo and have potential to differentiate into multiple cell types, such as peripheral nerves, glial, cardiac smooth muscle, endocrine, and pigment cells, and craniofacial bone. In the present study, we induced osteoblast-like cells using whisker follicles obtained from the NC of mice. Hair follicle cells derived from the NC labeled with enhanced green fluorescent protein (EGFP) were collected from protein zero-Cre/floxed-EGFP double transgenic mice and cultured, then treated and cultured in stem cell growth medium...
2017: PloS One
https://www.readbyqxmd.com/read/28371070/molecular-analysis-of-a-novel-intragenic-deletion-in-gpc3-in-three-cousins-with-simpson-golabi-behmel-syndrome
#7
Julia Schmidt, Ronja Hollstein, Frank J Kaiser, Gabriele Gillessen-Kaesbach
Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X-linked recessive and caused by deletions, duplications, and point mutations in GPC3, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division...
March 29, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28359687/comparison-of-the-adult-three-dimensional-craniofacial-features-of-patients-with-unilateral-craniofacial-microsomia-with-and-without-early-mandible-distraction
#8
E W-C Ko, P K-T Chen, L-J Lo
This study was conducted to analyze the long-term facial growth of patients with craniofacial microsomia (CFM) after early mandible distraction osteogenesis (DO), and compared adult three-dimensional (3D) craniofacial features of patients with and without early mandibular DO for Pruzansky grade II deformities. The study included 20 patients: 9 with early mandible DO (the DO group) and 11 without previous treatment (the NDO group). Longitudinal radiographs were measured for growth changes after DO. The 3D craniofacial images were constructed to compare the craniofacial forms between the two groups...
March 27, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28350675/early-distraction-for-mild-to-moderate-unilateral-craniofacial-microsomia-long-term-follow-up-outcomes-and-recommendations
#9
Katie E Weichman, Jordan Jacobs, Parit Patel, Caroline Szpalski, Pradip Shetye, Barry Grayson, Joseph G McCarthy
BACKGROUND: There is controversy regarding the treatment of young patients with unilateral craniofacial microsomia and moderate dysmorphism. The relative indication for mandibular distraction in such patients poses several questions: Is it deleterious in the context of craniofacial growth and appearance? This study was designed to address these questions. METHODS: A retrospective review of patients undergoing mandibular distraction by a single surgeon between 1989 and 2010 was conducted...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#10
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#11
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...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28316918/an-evaluation-of-craniofacial-growth-pattern-in-north-indian-children
#12
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
#13
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/28301972/efficacy-of-transsphenoidal-surgery-in-achieving-biochemical-cure-of-growth-hormone-secreting-pituitary-adenomas-among-patients-with-cavernous-sinus-invasion-a-systematic-review-and-meta-analysis
#14
Vanessa Briceno, Hasan A Zaidi, Joanne A Doucette, Kaho B Onomichi, Amer Alreshidi, Rania A Mekary, Timothy R Smith
OBJECTIVES: Growth hormone-secreting pituitary adenomas in adults can result in severe craniofacial disfigurement and potentially fatal medical complications. Surgical resection leading to remission of the disease is dependent on complete surgical resection of the tumor. Lesions that invade the cavernous sinus may not be safely accessible via an endonasal transsphenoidal surgery (TSS), and the rates of biochemical remission of patients with residual disease vary widely in the literature...
March 16, 2017: Neurological Research
https://www.readbyqxmd.com/read/28299266/three-dimensional-evaluation-of-surgical-techniques-in-neonates-with-orofacial-cleft
#15
Cleide Felício Carvalho Carrara, Eloá Cristina Passucci Ambrosio, Bianca Zeponi Fernandes Mello, Paula Karine Jorge, Simone Soares, Maria Aparecida Andrade Moreira Machado, Thais Marchini Oliveira
BACKGROUND: Individuals with cleft lip and palate have many anatomic and functional alterations compromising esthetics, hearing, speech, occlusion, and development/craniofacial growth. The rehabilitative treatment of these patients is very challenging and starts at birth aiming at the best treatment for all functional demands. This study aimed to evaluate the dimensional alterations of the dental arches of neonates with cleft lip and palate after two different primary surgical techniques...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28296336/a-comprehensive-study-of-palate-development-in-miniature-pig
#16
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/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/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#18
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
March 7, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28244593/growth-factor-signaling-alters-the-morphology-of-the-zebrafish-ethmoid-plate
#19
Brian J Cusack, Trish E Parsons, Seth M Weinberg, Alexandre R Vieira, Heather L Szabo-Rogers
Craniofacial development relies on coordinated tissue interactions that allow for patterning and growth of the face. We know a priori that the Wingless, fibroblast growth factor, Hedgehog and transforming growth factor-beta growth factor signaling pathways are required for the development of the face, but how they contribute to the shape of the face is largely untested. Here, we test how each signaling pathway contributes to the overall morphology of the zebrafish anterior neurocranium. We tested the contribution of each signaling pathway to the development of the ethmoid plate during three distinct time periods: the time of neural crest migration [10 hour post fertilization (hpf)]; once the neural crest is resident in the face (20 hpf); and finally at the time at which the cartilaginous condensations are being initiated (48 hpf)...
February 28, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28241484/mrna-quantification-of-nipbl-isoforms-a-and-b-in-adult-and-fetal-human-tissues-and-a-potentially-pathological-variant-affecting-only-isoform-a-in-two-patients-with-cornelia-de-lange-syndrome
#20
Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos, Lena Ström, Juan Pié
Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction)...
February 23, 2017: International Journal of Molecular Sciences
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