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https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#1
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28432762/microvascular-replantation-of-head-and-neck-amputated-parts-a-systematic-review
#2
REVIEW
Johnny I Efanov, Ixchel J Montoya, Ke N Huang, Charles Guertin, Patrick G Harris, Joseph Bou-Merhi, Alain M Danino
BACKGROUND: As opposed to upper and lower extremity amputations representing a considerable volume of admissions, the prowess of microsurgeons is seldom solicited in complex cases of head and neck replantation. Our aim was to determine the rate of successful replantation of craniofacial parts in a systematic review of the literature. METHODS: We performed a systematic review of English literature using PubMed/MEDLINE for every replantation of a head and neck parts...
April 22, 2017: Microsurgery
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#3
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28430896/evidence-of-secular-trend-in-mandibular-pubertal-growth
#4
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/28426184/alterations-in-mandibular-morphology-associated-with-glypican-1-and-glypican-3-gene-mutations
#5
M Mian, S Ranjitkar, G C Townsend, P J Anderson
OBJECTIVES: Glypican 1 (GPC1) and glypican 3 (GPC3) are bone co-regulators that act downstream in many of the signalling pathways associated with craniosynostosis. Morphometric data from GPC-knockout mice were analysed to determine whether elimination of GPC1 and GPC3 genes would alter mandibular morphology. SETTING AND SAMPLE POPULATION: The murine model included five male and five female mandibles in each of GPC1-knockout, GPC1/GPC3-knockout and wild-type (control) groups...
April 20, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28424485/in-vivo-dynamics-of-aav-mediated-gene-delivery-to-sensory-neurons-of-the-trigeminal-ganglia
#6
Chung H Dang, Martine Aubert, Harshana S De Silva Feelixge, Kurt Diem, Michelle A Loprieno, Pavitra Roychoudhury, Daniel Stone, Keith R Jerome
The ability to genetically manipulate trigeminal ganglion (TG) neurons would be useful in the study of the craniofacial nervous system and latent alphaherpesvirus infections. We investigated adeno-associated virus (AAV) vectors for gene delivery to the TG after intradermal whiskerpad delivery in mice. We demonstrated that AAV vectors of serotypes 1, 7, 8, and 9 trafficked from the whiskerpad into TG neurons and expressed transgenes within cell bodies and axons of sensory neurons in all three branches of the TG...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422838/opposite-chromosome-constitutions-due-to-a-familial-translocation-t-1-21-q43-q22-in-2-cousins-with-development-delay-and-congenital-anomalies-a-case-report
#7
Beata Aleksiūnienė, Rugilė Matulevičiūtė, Aušra Matulevičienė, Birutė Burnytė, Natalija Krasovskaja, Laima Ambrozaitytė, Violeta Mikštienė, Vaidas Dirsė, Algirdas Utkus, Vaidutis Kučinskas
RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28421875/three-dimensional-printing-and-its-applications-in-otorhinolaryngology-head-and-neck-surgery
#8
Trevor D Crafts, Susan E Ellsperman, Todd J Wannemuehler, Travis D Bellicchi, Taha Z Shipchandler, Avinash V Mantravadi
Objective Three-dimensional (3D)-printing technology is being employed in a variety of medical and surgical specialties to improve patient care and advance resident physician training. As the costs of implementing 3D printing have declined, the use of this technology has expanded, especially within surgical specialties. This article explores the types of 3D printing available, highlights the benefits and drawbacks of each methodology, provides examples of how 3D printing has been applied within the field of otolaryngology-head and neck surgery, discusses future innovations, and explores the financial impact of these advances...
November 1, 2016: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28420997/micrornas-in-palatogenesis-and-cleft-palate
#9
REVIEW
Christian Schoen, Armaz Aschrafi, Michelle Thonissen, Geert Poelmans, Johannes W Von den Hoff, Carine E L Carels
Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their corresponding DNA motifs. Even minor perturbations of this network may cause cleft palate, the most common congenital craniofacial defect in humans. MicroRNAs (miRNAs), a class of small regulatory non-coding RNAs, have elicited strong interest as key regulators of embryological development, and as etiological factors in disease. MiRNAs function as post-transcriptional repressors of gene expression and are therefore able to fine-tune gene regulatory networks...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28417904/zebrafish-as-an-alternative-vertebrate-model-for-investigating-developmental-toxicity-the-triadimefon-example
#10
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/28417683/tracheostomy-for-severe-pediatric-obstructive-sleep-apnea-indications-and-outcomes
#11
Christopher J Rizzi, Julian D Amin, Amal Isaiah, Tulio A Valdez, Anita Jeyakumar, Suzanne E Smart, Kevin D Pereira
Objectives (1) To describe characteristics of pediatric patients undergoing tracheostomy for obstructive sleep apnea (OSA). (2) To highlight perioperative events and outcomes of the procedure. Study Design Case series with chart review. Setting Four tertiary care academic children's hospitals. Subjects and Methods Twenty-nine children aged <18 years from January 1, 2010, to December 31, 2015, who underwent tracheostomy for severe OSA, defined as an apnea-hypopnea index (AHI) >10, were included in the study...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28416422/-penetrating-air-gun-pellet-into-the-orbital-apex
#12
Rodolfo Belmonte-Caro, Alberto Garcia-Perla-Garcia, Jose Romero-Arce, Pedro Infante-Cossio
A foreign body penetrating into the intraconal orbital compartment poses a surgical challenge because of its deep location behind the globe and near the optic nerve. We present a case of an air gun pellet lodged into the orbital apex, which was removed via superolateral orbitotomy through coronal incision. This additional craniofacial technique is a safe procedure to access the lateral aspect of the intraconal compartment in the unusual event of having to remove an orbital foreign body.
April 14, 2017: Neurocirugía
https://www.readbyqxmd.com/read/28415545/engineering-bone-regeneration-with-novel-cell-laden-hydrogel-microfiber-injectable-calcium-phosphate-scaffold
#13
Yang Song, Chi Zhang, Ping Wang, Lin Wang, Chunyun Bao, Michael D Weir, Mark A Reynolds, Ke Ren, Liang Zhao, Hockin H K Xu
Cell-based tissue engineering is promising to create living functional tissues for bone regeneration. The implanted cells should be evenly distributed in the scaffold, be fast-released to the defect and maintain high viability in order to actively participate in the regenerative process. Herein, we report an injectable calcium phosphate cement (CPC) scaffold containing cell-encapsulating hydrogel microfibers with desirable degradability that could deliver cells in a timely manner and maintain cell viability...
June 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28413598/solitary-peripheral-ivory-osteoma-of-the-mandible-presenting-with-difficulty-in-deglutition-a-case-report
#14
Kumar Nilesh, Aaditee V Vande, Suresh K Veerabhadrappa
Osteomas are benign bone tumors which arise from the cortex or medulla of craniofacial and jaw bones. They are usually asymptomatic or present as slow-growing painless masses. Larger lesions may present with aesthetic (facial asymmetry) and functional disturbances (jaw deviation, difficulty in breathing, pain, and sensory deficits). This paper highlights a case of solitary peripheral osteoma composed of a compact bony mass arising from the lower border of the mandible in an adult female patient. The lesion presented with discomfort during deglutition, which was attributed to impingement of muscles of the oral cavity floor, including the anterior belly of digastric muscle...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28413181/review-of-past-reports-and-current-concepts-of-surgical-management-for-craniosynostosis
#15
Shigeo Kyutoku, Takayuki Inagaki
The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple strip craniectomy in practice which ranged from the removal of the fused suture before the 1960s to total calvarial remodeling after 1970s and later methods of the 1990s, such as distraction and its modifications. According to its history, craniofacial surgeons might be changing their procedures with more effective, than less invasive ways. Since the late 1990s, when the distraction was applied to the craniofacial surgery, the gradual expansion, in particular of the anterior cranium, common in Japan, has long been controversial until the Caucasians accepted its use for the posterior cranium...
April 12, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28402856/chd8-mutation-leads-to-autistic-like-behaviors-and-impaired-striatal-circuits
#16
Randall J Platt, Yang Zhou, Ian M Slaymaker, Ashwin S Shetty, Niels R Weisbach, Jin-Ah Kim, Jitendra Sharma, Mitul Desai, Sabina Sood, Hannah R Kempton, Gerald R Crabtree, Guoping Feng, Feng Zhang
Autism spectrum disorder (ASD) is a heterogeneous disease, but genetically defined models can provide an entry point to studying the molecular underpinnings of this disorder. We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, macrocephaly, and craniofacial abnormalities similar to patient phenotypes. Chd8(+/-) mice display a broad, brain-region-specific dysregulation of major regulatory and cellular processes, most notably histone and chromatin modification, mRNA and protein processing, Wnt signaling, and cell-cycle regulation...
April 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28402346/tissue-engineering-therapy-for-atrophic-maxilla-using-minimally-manipulated-cd90-and-cd105-bone-marrow-stem-cells-a-case-report
#17
Erick Valdivia, Gerardo Mendoza-Azpur, Jhon Pando, Heydi Cornejo, Antonio Carrasco, Myron Nevins, David Kim
Bone deficiencies in the jaws of edentulous patients limit the possibility of successful placement and osseointegration of endosseous implants. Bone resorption is defined as a vertical and horizontal loss of quality and quantity in the residual bone ridges; lack of bone structure requires bone grafting procedures to enable implant placement and to improve the function, predictability, and longevity of implants. The objective of this case study was to demonstrate the feasibility of a novel cell therapy treatment for localized jaw bone defects with tissue repair cells composed of a mixture of bone marrow-derived cells, including CD90+ mesenchymal stem cells and CD105+ monocytes/macrophages, and xenograft blocks, in what would be a safe and efficacious approach to the regeneration of localized craniofacial bone defects...
May 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/28401166/hypodontia-an-update-on-its-etiology-classification-and-clinical-management
#18
REVIEW
Azza Husam Al-Ani, Joseph Safwat Antoun, William Murray Thomson, Tony Raymond Merriman, Mauro Farella
Hypodontia, or tooth agenesis, is the most prevalent craniofacial malformation in humans. It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait. Excluding third molars, the reported prevalence of hypodontia ranges from 1.6 to 6.9%, depending on the population studied. Most affected individuals lack only one or two teeth, with permanent second premolars and upper lateral incisors the most likely to be missing. Both environmental and genetic factors are involved in the aetiology of hypodontia, with the latter playing a more significant role...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28399652/facial-presentations-of-primary-headache-disorders
#19
Yair Sharav, Zaza Katsarava, Andrew Charles
Background Many patients with mid-face or lower face craniofacial pain are diagnosed, based on accompanying signs and symptoms and features other than location, as either atypical migraines or atypical TACs. Distinguishing features of headache disorders as a cause of facial pain include the temporal pattern of pain, associated symptoms including light and sound sensitivity and nausea, cranial autonomic symptoms, and the lack of local triggering among others. Results An intraoral neurovascular pain has been observed, and was termed neurovascular orofacial pain (NVOP)...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28398940/pediatric-dog-bite-prevention-are-we-barking-up-the-wrong-tree-or-just-not-barking-loud-enough
#20
Michael R Bykowski, Sameer Shakir, Sanjay Naran, Darren M Smith, Jesse A Goldstein, Lorelei Grunwaldt, Richard A Saladino, Joseph E Losee
OBJECTIVES: The objectives of this study were (1) to evaluate dog bite-related injuries and associated medical documentation and (2) to compare these results with a study of dog bites from the same institution 10 years prior. METHODS: Data were retrospectively collected from a pediatric emergency department from July 2007 to July 2011 for patients treated for dog bites. These data were then compared with data from the same institution from 10 years prior. RESULTS: A total of 1017 bite injuries were treated (average, 254...
April 11, 2017: Pediatric Emergency Care
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