Craniofacial development
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20 sv.
- MeSH
- kraniofaciální abnormality genetika MeSH
- obličejové kosti růst a vývoj MeSH
- vývojová biologie MeSH
- Publikační typ
- periodika MeSH
11, 213 s.
1st ed. vi, 220 s., čb. obr. + CD-ROM
A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects. Here, we analyze a role of Tmem107 in craniofacial development with special focus on palate formation, using mouse embryos with a complete knockout of Tmem107. Tmem107-/-mice were affected by a broad spectrum of craniofacial defects, including shorter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia. External abnormalities were accompanied by defects in skeletal structures, including ossification delay in several membranous bones and enlargement of the nasal septum or defects in vomeronasal cartilage. Alteration in palatal shelves growth resulted in clefting of the secondary palate. Palatal defects were caused by increased mesenchymal proliferation leading to early overgrowth of palatal shelves followed by defects in their horizontalization. Moreover, the expression of epithelial stemness marker SOX2 was altered in the palatal shelves of Tmem107-/-animals, and differences in mesenchymal SOX9 expression demonstrated the enhancement of neural crest migration. Detailed analysis of primary cilia revealed region-specific changes in ciliary morphology accompanied by alteration of acetylated tubulin and IFT88 expression. Moreover, Shh and Gli1 expression was increased in Tmem107-/-animals as shown by in situ hybridization. Thus, TMEM107 is essential for proper head development, and defective TMEM107 function leads to ciliary morphology disruptions in a region-specific manner, which may explain the complex mutant phenotype.
- MeSH
- cilie MeSH
- defekty neurální trubice genetika MeSH
- kraniofaciální abnormality genetika MeSH
- lebka růst a vývoj MeSH
- maxilofaciální vývoj genetika MeSH
- membránové proteiny fyziologie MeSH
- myši knockoutované MeSH
- myši MeSH
- obličejové kosti abnormality růst a vývoj MeSH
- patro abnormality MeSH
- rozštěp rtu genetika MeSH
- transkripční faktory SOX metabolismus MeSH
- zvířata MeSH
- Check Tag
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
Príspevok popisuje vplyv prenatálnej expozície alkoholu (PAE) v kontexte vzniku kraniofaciálnych a ostatných typických deficitov u detí s fetálnym alkoholovým syndrómom – FAS. FAS je najzávažnejšou diagnózou porúch fetálneho alkoholového spektra – FASD. FASD je nediagnostický súhrnný termín pre možné následky PAE. Ide o súbor anatomických malformácií a neurovývinových abnormalít vzniknutých počas vnútromaternicového vývinu jednotlivca konzumáciou alkoholu matkou počas tehotenstva. V rámci diagnostiky FASD, vrátane FAS, existuje celosvetovo viacero diagnostických manuálov. Na Slovensku sa zatiaľ používa The 4-Digit Code podľa Astley (2004). Daný manuál má veľmi dobre prepracovanú časť diagnostiky kraniofaciálnych deficitov. Pri FAS sú typickými znakmi na tvári tzv. sentinelové črty tváre. Patria sem krátka viečková štrbina, úzka horná pera a vyhladená ryha medzi nosom a hornou perou. Z hľadiska logopédie je dôležité vedieť aj o anomáliách vývinu zubov, pier, podnebia, nosa, uší a očí. V rámci etiogenézy kraniofaciálnych a ostatných typických deficitov sa vo všeobecnosti uvádzajú molekulárne, biochemické, bunkové a embryonálne mechanizmy.
The article describes the impact of prenatal alcohol exposure (PAE) in the context of the development of craniofacial and other typical deficits in children with foetal alcohol syndrome - FAS. FAS is the most serious diagnosis of foetal alcohol spectrum disorders - FASD. FASD is a non-diagnostic umbrella term for possible consequences of PAE. It is a set of anatomical malformations and neurodevelopmental abnormalities created during intrauterine development of an individual due to alcohol consumption by the mother during pregnancy. There are several diagnostic manuals worldwide for the diagnosis of FASD, including FAS. The 4-Digit Code according to Astley (2004) is currently used in Slovakia. The given manual has a very well-researched section on the diagnosis of craniofacial deficits. In FAS, the typical signs on the face are what are called the sentinel facial features. These include a short palpebral fissure, a narrow upper lip, and a smooth crease between the nose and the upper lip. From the point of view of Speech Therapy, it is also important to know about anomalies in the development of the teeth, lips, palate, nose, ears and eyes. As part of the aetiology of craniofacial and other typical deficits, molecular, biochemical, cellular and embryonic mechanisms are generally mentioned.
sv.
- MeSH
- kraniofaciální abnormality genetika MeSH
- obličejové kosti růst a vývoj MeSH
- ortodoncie MeSH
- Publikační typ
- periodika MeSH
- Konspekt
- Stomatologie
- NLK Obory
- zubní lékařství
- ortodoncie
Members of the fibroblast growth factor (FGF) family have myriad functions during development of both non-vertebrate and vertebrate organisms. One of these family members, FGF10, is largely expressed in mesenchymal tissues and is essential for postnatal life because of its critical role in development of the craniofacial complex, as well as in lung branching. Here, we review the function of FGF10 in morphogenesis of craniofacial organs. Genetic mouse models have demonstrated that the dysregulation or absence of FGF10 function affects the process of palate closure, and FGF10 is also required for development of salivary and lacrimal glands, the inner ear, eye lids, tongue taste papillae, teeth, and skull bones. Importantly, mutations within the FGF10 locus have been described in connection with craniofacial malformations in humans. A detailed understanding of craniofacial defects caused by dysregulation of FGF10 and the precise mechanisms that underlie them offers new opportunities for development of medical treatments for patients with birth defects and for regenerative approaches for cancer patients with damaged gland tissues.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: Face transplantation allows the reconstruction of the previously nonreconstructible injury. Anthropometric landmarks are fixated to corresponding cephalometric landmarks to restore function and appearance, with emphasis on phonation, mastication, and functional upper airway. Currently, only a few face transplantations have been performed worldwide. A portion of these reconstructions involves combinations of hard and soft tissues of the midface. METHODS: Craniofacial and orthognathic considerations should be emphasized for functional effect in the planning and execution of face transplants that include both bone and soft tissue elements. These steps are taken to restore normal anatomy by fixating the midface into proper relationship with the skull base. Traditional orthognathic planning, using cephalometric parameters, often involves a line through sella and nasion as a reference for the skull base. Intraoperatively though, without a cephalograph, the sella-nasion plane is not accessible as a reference point. RESULTS: Postoperative analysis of our first face transplant recipient revealed that the Frankfort horizontal plane can alternatively serve as an accessible skull base reference point to guide the positioning of the midface. We have developed a technique to ensure fixation of the midface donor allograft in a proper functional relationship with the skull base, within 1 SD of Bolton normative data. CONCLUSIONS: "Reverse craniofacial planning" allows for precise fixation of the hard tissue components of the face transplant in relation to the skull base, as opposed to a "best fit" approach. We believe that this relationship results in the most anatomical restoration of occlusion, speech, and airway function.
- MeSH
- antropometrie MeSH
- kefalometrie * MeSH
- lidé MeSH
- obnova funkce MeSH
- ortognátní chirurgické výkony MeSH
- plánování péče o pacienty MeSH
- počítačová rentgenová tomografie MeSH
- rentgenový obraz - interpretace počítačová MeSH
- software MeSH
- transplantace obličeje metody MeSH
- zákroky plastické chirurgie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
