- Klíčová slova
- jednokřídlé adhezivní můstky,
- MeSH
- anodoncie terapie MeSH
- dítě MeSH
- index potřeby ortodontické léčby MeSH
- lidé MeSH
- mladiství MeSH
- ortodontické uzavření mezery * metody MeSH
- processus alveolaris růst a vývoj MeSH
- řezáky * patofyziologie zranění MeSH
- ztráta zubů psychologie terapie MeSH
- zubní náhrady částečné MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting the cardiovascular, skeletal, pulmonary and nervous systems. Aberrant accumulation of extracellular matrix components and fibrosis are considered to be crucial components in the pathogenesis of GAPO syndrome, contributing to the shortened life expectancy of affected individuals. Nonetheless, the specific mechanisms connecting ANTXR1 deficiency to the clinical manifestations of GAPO syndrome are largely unexplored. In this study, we present evidence that ANTXR1 deficiency initiates a senescent phenotype in human fibroblasts, correlating with defects in nuclear architecture and actin dynamics. We provide novel insights into ANTXR1's physiological functions and propose GAPO syndrome to be reconsidered as a progeroid disorder highlighting an unexpected role for an integrin-like extracellular matrix receptor in human aging.
- MeSH
- aktiny metabolismus MeSH
- alopecie * metabolismus patologie genetika MeSH
- anodoncie * MeSH
- dědičné atrofie optického nervu genetika metabolismus MeSH
- fibroblasty * metabolismus MeSH
- lidé MeSH
- mikrofilamentové proteiny * MeSH
- poruchy růstu * MeSH
- progerie genetika patologie metabolismus MeSH
- receptory buněčného povrchu metabolismus genetika nedostatek MeSH
- stárnutí buněk * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PATIENTS: This case report presents a minimally invasive approach to replace a missing mandibular lateral incisor using a dual-injection molding technique with flowable composite resins. Integrated with a comprehensive digital workflow, this method achieves a structurally and esthetically biomimetic, bi-layered prosthetic solution. A 34-year-old woman with congenital absence of a mandibular lateral incisor was successfully rehabilitated using a direct composite resin-bonded fixed partial denture (RBFPD). DISCUSSION: Two specialized three-dimensional (3D)-printed flexible indices stabilized by a custom-designed 3D-printed rigid holder were employed to ensure the meticulous injection molding of flowable composite resins formulated to emulate the inherent chromatic gradations between dentin and enamel. The inherent flexibility of the indices, combined with the holder, facilitated accurate and seamless adaptation to the complex morphological features of the dental arch, thereby mitigating the challenges commonly associated with rigid 3D-printed resin indices. CONCLUSIONS: The bilayered direct composite RBFPD using 3D printed flexible indices prepared with a full digital workflow has several advantages over other dental prosthetic solutions, including noninvasiveness, cost-effectiveness, biomimetic esthetics, repairability, and shortened treatment times. Although the initial results are promising, further longitudinal studies with larger patient cohorts are required to confirm the long-term efficacy of this approach.
- MeSH
- 3D tisk * MeSH
- anodoncie rehabilitace terapie MeSH
- biomimetika MeSH
- dospělí MeSH
- lidé MeSH
- mandibula * MeSH
- řezáky * MeSH
- složené pryskyřice * MeSH
- zubní náhrady částečné pevné lepené pryskyřicí MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Klíčová slova
- odonto-onycho-dermální dysplazie,
- MeSH
- abnormality ústního a čelistního systému diagnóza terapie MeSH
- anodoncie diagnóza terapie MeSH
- ektodermální dysplazie * diagnóza terapie MeSH
- lidé MeSH
- vzácné nemoci diagnóza terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- přehledy MeSH
- MeSH
- abnormality ústního a čelistního systému diagnóza terapie MeSH
- anodoncie * diagnóza terapie MeSH
- lidé MeSH
- vzácné nemoci diagnóza terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- přehledy MeSH
OBJECTIVES: The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of cancer. MATERIALS AND METHODS: We enrolled 60 young subjects (aged 13 to 17) from the Czech Republic with various forms of tooth agenesis. Dental phenotypes were assessed using Planmeca ProMax 3D (Planmeca Oy, Finland) with Planmeca Romexis software (version 2.9.2) together with oral examinations. After screening PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes on the Illumina MiSeq platform (Illumina, USA), we further analyzed the evolutionarily highly conserved WNT10A gene by capillary sequencing in the seven families. RESULTS: All the detected variants were heterozygous or compound heterozygous with various levels of phenotypic expression. The most severe phenotype (oligodontia) was found in a proband who was compound heterozygous for the previously identified WNT10A variant p.Phe228Ile and a newly discovered c.748G > A variant (p.Gly250Arg) of WNT10A. The newly identified variant causes substitution of hydrophobic glycine for hydrophilic arginine. CONCLUSIONS: We suggest that the amino acid changes in otherwise highly conserved sequences significantly affect the dental phenotype. No relationship between the presence of WNT10A variants and a risk of cancer has been found. CLINICAL RELEVANCE: Screening of PAX9, MSX1, EDA, EDAR, AXIN2 and WNT10A genes in hope to elucidate the pattern of inheritance in families.
AIM: Despite the fact that ectodermal dysplasia (ED) is a rare disease, it is often seen in a tertiary clinic. ED affects ectodermal tissues such as skin, hair, teeth, nails, and sweat glands. Patients usually have sparse light hair, deformed nails, and dry skin. They suffer from dental abnormalities such as oligodontia (absence of 6 or more teeth) or complete anodontia; salivation can also be affected. The absence of teeth can be the overriding problem for both patients and their parents, and lead to substantial social ostracisation. This study aims to summarise the facts about the disease, especially dental treatment options based on data drawn from a representative Czech cohort. MATERIALS: The present article summarises the facts about ectodermal dysplasia (ED) in a cohort of 13 patients, where the following were evaluated: clinical manifestations of ED, pathogenic variants detected in selected candidate genes and dental treatment options from child removable dentures to fixed crowns and implants insertion. Three cases are described in detail and demonstrate approaches for different age groups. CONCLUSION: Early diagnosis and active cooperation between the geneticist and dentist will facilitate cooperation with parents and patients and assure secondary prevention. It is preferable that the geneticist understands dental treatment options and can discuss these with patients/parents.
- MeSH
- anodoncie * terapie MeSH
- dítě MeSH
- ektodermální dysplazie * komplikace terapie MeSH
- lidé MeSH
- stomatologická péče MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- anodoncie * MeSH
- dospělí MeSH
- lidé MeSH
- ortodontické aktivátory snímatelné MeSH
- řezáky abnormality růst a vývoj MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
