The Experts below are selected from a list of 6627 Experts worldwide ranked by ideXlab platform
Federico Prefumo - One of the best experts on this subject based on the ideXlab platform.
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ultrasound prenatal diagnosis of a lateral Facial Cleft tessier number 7
Ultrasound in Obstetrics & Gynecology, 2004Co-Authors: F Presti, C Celentano, L Marcazzo, G Dolcetta, Federico PrefumoAbstract:Lateral Facial Clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral Facial Cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation.
Robert M Menard - One of the best experts on this subject based on the ideXlab platform.
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single stage repair of 30 Facial Cleft with bone morphogenic protein
Plastic and reconstructive surgery. Global open, 2018Co-Authors: Clifford C. Sheckter, Paul Mittermiller, Danielle Rochlin, Kay Hung, Zeshaan N Maan, Robert M MenardAbstract:Tessier #30 Clefts (median mandibular Clefts) represent a spectrum of deformities ranging from a minor Cleft in the lower lip to complete Clefts of the mandible involving the tongue, lower lip, hyoid bone, thyroid cartilages, and manubrium. Various techniques have been used to address these problems; the most common procedure involving 2 stages: an initial correction of the soft tissue followed by closure of the mandibular Cleft at a later date using bone grafting. This approach was subsequently reduced to a single operation, but still required harvesting of autologous bone graft. Here, we describe a modified single-stage operation using human recombinant bone morphogenic protein, avoiding bone graft harvest and allowing for simultaneous treatment of bone and soft tissue.
Eric C Liao - One of the best experts on this subject based on the ideXlab platform.
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functional analysis of specc1l in cranioFacial development and oblique Facial Cleft pathogenesis
Plastic and Reconstructive Surgery, 2014Co-Authors: Lisa Gfrerer, Valeriy Shubinets, Tatiana Hoyos, Yawei Kong, Christina Nguyen, Peter Pietschmann, Cynthia C Morton, Richard L Maas, Eric C LiaoAbstract:OroFacial Clefts are among the most common congenital malformations, with a prevalence of one in 700 to one in 1000 births.1,2 OroFacial Clefts range from the common Cleft lip with or without Cleft palate and Cleft palate only, to rare and complex oblique Facial Clefts, also known as Tessier Clefts.3–6 Although surgical management of Cleft lip with or without Cleft palate and Cleft palate only are routine, and good functional and cosmetic results can be achieved, repair of oblique Facial Clefts is generally difficult, with more modest surgical results.7,8 Affected children require multiple staged surgical procedures in early childhood and need lifelong multidisciplinary treatment with significant financial burden to their families and the health care system.9 Better understanding of the genetic basis of palate and Cleft formation would aid genetic diagnosis of oroFacial Clefts and lead to potential advances in the treatment of these common structural malformations.10–12 Many genetic loci associated with Cleft lip with or without Cleft palate and Cleft palate only have been described, such as MSX1, IRF6, SUMO1, an TGFB.5,13–19 In contrast to the common Cleft lip with or without Cleft palate, little is known about the genetic basis of oblique Facial Clefts. For lack of better understanding, clinicians have suggested that oblique Facial Clefts may be caused by a combination of directly tethered tissue disrupting Facial prominence migration (such as amniotic bands) or increased local pressure that causes ischemia.20 It was not until this work that we begin to show that oblique Facial Clefts, like the more common Cleft lip with or without Cleft palate and Cleft palate only, has a genetic basis, through the discovery of mutations in SPECC1L to be causal for oblique Facial Clefts.21 SPECC1L encodes a novel coiled-coil domain containing protein and functionally interacts with both microtubules and the actin cytoskeleton, especially in mitotic spindles.21 In a wound-repair assay, SPECC1L knockdown led to defective cell adhesion and migration and inability of cells to reorganize their actin cytoskeleton in response to stimuli such as Ca2+ and Wnt5a. Morpholino-based knockdown of SPECC1L homologs in zebra-fish led to a “faceless” phenotype. This work did not describe the cranioFacial structures in detail, which precluded evaluation of the mandible and palate. Disruption in Drosophila led to cell migration and adhesion defects resulting in a wide range of wing phenotypes.21 The wing phenotypes observed in SPECC1L knockdown experiments in Drosophila had a striking resemblance to mutants in the integrin signaling pathway,22 suggesting that SPECC1L may be involved in integrin-mediated cell motility and adhesion. However, the means by which SPECC1L participates in integrin and WNT pathways during cranioFacial development remains undefined. The function of SPECC1L in cranioFacial morphogenesis is also unknown. Zebrafish (Danio rerio) is a powerful genetic tool for study of the developmental and genetic basis of oroFacial Clefts. Many features of zebra-fish biology, including small size, rapid and ex vivo embryonic development, and high breeding rates, make this model system very useful. The embryos are optically transparent and genetically tractable, and can be used in large-scale genetic and chemical screens. We and others described the conservation of palatogenic gene expression and function across vertebrates.23–26 It was also shown that zebrafish cranial neural crest cells reside in analogous regions of the developing face compared with amniote species, and that the zebrafish palate is analogous to the amniote primary palate (Fig. 1). In addition to structural similarities between zebrafish and mammalian cranioFacial development, the gene regulatory network is highly conserved with genes such as WNT signaling, sonic hedgehog, fibroblast growth factor 8, transcription factor AP-2a, and PDGFRA all playing key roles.27–31 Furthermore, we demonstrated that the pathogenesis of oroFacial Cleft is also conserved between amniotes and zebrafish, where disruption of wnt9a and irf6, which are important mutations associated with human Cleft lip with or without Cleft palate, also resulted in zebrafish Cleft palate phenotypes.23 Recent innovations in gene editing and knockout approaches using clustered regularly interspaced short palindromic repeats and transcription activator-like effector nucleases have further advanced zebrafish as a first-line model system of choice to analyze genes of unknown function uncovered from human genetics studies.32–35 Fig. 1 Human embryo at 10 weeks (left) and zebrafish embryo at 4 days post fertilization (dpf) (right), at analogous developmental time points. Frontal (above) and palatal views (center and below) of the frontonasal prominence (FNP; red) and maxillary prominences ... This work aimed to elucidate the function of SPECC1L through the study of its homolog, specc1lb, in the zebrafish model. In zebrafish, we can readily determine the embryonic gene expression of specc1lb, assess the functional requirement of specc1lb during cranioFacial morphogenesis, and study the cellular mechanisms where specc1lb acts. This study forms the basis for future functional analysis of SPECC1L, such as gene targeting in murine models or to guide future biochemical approaches.
Clifford C. Sheckter - One of the best experts on this subject based on the ideXlab platform.
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single stage repair of 30 Facial Cleft with bone morphogenic protein
Plastic and reconstructive surgery. Global open, 2018Co-Authors: Clifford C. Sheckter, Paul Mittermiller, Danielle Rochlin, Kay Hung, Zeshaan N Maan, Robert M MenardAbstract:Tessier #30 Clefts (median mandibular Clefts) represent a spectrum of deformities ranging from a minor Cleft in the lower lip to complete Clefts of the mandible involving the tongue, lower lip, hyoid bone, thyroid cartilages, and manubrium. Various techniques have been used to address these problems; the most common procedure involving 2 stages: an initial correction of the soft tissue followed by closure of the mandibular Cleft at a later date using bone grafting. This approach was subsequently reduced to a single operation, but still required harvesting of autologous bone graft. Here, we describe a modified single-stage operation using human recombinant bone morphogenic protein, avoiding bone graft harvest and allowing for simultaneous treatment of bone and soft tissue.
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Single Stage Repair of #30 Facial Cleft with Bone Morphogenic Protein
Wolters Kluwer, 2018Co-Authors: Clifford C. Sheckter, Paul Mittermiller, Bs ,kay Hung, Zeshaan Maan, Danielle Rochlin, Robert Menard, Md M. FacsAbstract:Summary:. Tessier #30 Clefts (median mandibular Clefts) represent a spectrum of deformities ranging from a minor Cleft in the lower lip to complete Clefts of the mandible involving the tongue, lower lip, hyoid bone, thyroid cartilages, and manubrium. Various techniques have been used to address these problems; the most common procedure involving 2 stages: an initial correction of the soft tissue followed by closure of the mandibular Cleft at a later date using bone grafting. This approach was subsequently reduced to a single operation, but still required harvesting of autologous bone graft. Here, we describe a modified single-stage operation using human recombinant bone morphogenic protein, avoiding bone graft harvest and allowing for simultaneous treatment of bone and soft tissue
F Presti - One of the best experts on this subject based on the ideXlab platform.
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ultrasound prenatal diagnosis of a lateral Facial Cleft tessier number 7
Ultrasound in Obstetrics & Gynecology, 2004Co-Authors: F Presti, C Celentano, L Marcazzo, G Dolcetta, Federico PrefumoAbstract:Lateral Facial Clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral Facial Cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation.
