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Comprehensive treatment approach for bilateral cleft lip and palate in an adult with premaxillary osteotomy, tooth autotransplantation, and 2-jaw surgery.

We report the successful treatment of a woman aged 25 years 3 months with bilateral cleft lip and palate. She had a protruded premaxilla, collapsed posterior segments, wide alveolar defects with oronasal fistulae, a congenital missing tooth, and severe facial asymmetry with a transverse occlusal cant. The comprehensive treatment approach included (1) premaxillary osteotomy combined with alveolar bone grafting to reposition the premaxilla and minimize the wide alveolar defects, (2) autotransplantation of a tooth with complete root formation to the grafted bone region to restore the missing toot

A retrospective 3- to 5-year study of the reconstruction of oral function using implant-supported prostheses in patients with hypohidrotic ectodermal dysplasia.

The aim of this study was to evaluate oral function rehabilitation in patients with hypohidrotic ectodermal dysplasia (HED) using implant-supported prostheses based on bone augmentation. From September 2005 and March 2009, 25 HED patients were chosen for clinical data analysis in this study. The criteria for patient selection included the following: the display of clinical features of HED, the number of congenitally missing teeth (>5), the patient age (>16 years), the patient's willingness, and the patient's tolerance for bone graft surgery and implant placement. Follow-up evaluations were ini

Mutations in ANTXR1 cause GAPO syndrome.

The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss of ANTXR1. The transcript with the splicing mutation theoretical…

The influence of patients' decisions on treatment planning in restorative dentistry.

UNLABELLED: As part of treatment planning, options are presented to patients by dentists. An informal discussion takes place involving a cost-benefit analysis and a treatment plan is agreed. Evidence-based dentistry takes into account the best available literature, clinical experience and patient factors to guide the dentist. Dentists exert considerable influence on which treatment modality is selected. This paper focuses on the importance of patient factors which lead to less than ideal, clinically acceptable, treatment plans that nevertheless give patient satisfaction over the long term. Tho

Defining new paradigms for assessment of implant receptor sites. The use of CT/CBCT and interactive virtual treatment planning for congenitally missing lateral incisors.

An emerging technology that encompasses computed tomography, cone-beam computed tomography, and interactive software applications has slowly progressed and evolved into a necessary tool for diagnosis, treatment planning, and delivery of dental implant and associated restorative and surgical procedures. The integration of these innovative tools is helping to define new methods for appreciating anatomy, improving accuracy, and enhancing presurgical prosthetic planning to achieve true restorative-driven implant dentistry. This article will demonstrate how computed tomography combined with interac

Implants in the esthetic zone.

Over the last 15 years implant dentistry has made great progress. Especially in the anterior region, esthetics plays a vital role in treatment. Patients expect not only a fully functional restoration, but also an esthetically pleasing and long-lasting solution. A predictable and esthetic result can only be achieved by adhering to a proven clinical protocol, which is based on experience, precise diagnostic procedures, and meticulous treatment planning. This article presents a practical protocol used in the authors' practice for esthetic reconstructions with dental implants in the anterior regio

Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family members were screened for mutations using a newly established denaturing gradient gel electrophoresis (DGGE) method. A novel heterozygous mutation in exon 2 (DNA binding region) of the I

Identification of genetic risk factors for maxillary lateral incisor agenesis.

Tooth agenesis affects 20% of the world population, and maxillary lateral incisors agenesis (MLIA) is one of the most frequent subtypes, characterized by the absence of formation of deciduous or permanent lateral incisors. Odontogenesis is a complex mechanism regulated by sequential and reciprocal epithelial-mesenchymal interactions, controlled by activators and inhibitors involved in several pathways. Disturbances in these signaling cascades can lead to abnormalities in odontogenesis, resulting in alterations in the formation of the normal teeth number. Our aim was to study a large number of

A 1-year randomised controlled trial comparing zirconia versus metal-ceramic implant supported single-tooth restorations.

PURPOSE: To compare the biological, technical and aesthetic outcomes of single implant-supported all-ceramic versus metal-ceramic crowns. MATERIALS AND METHODS: Thirty-six patients with premolar agenesis were randomly treated with 38 all-ceramic (AC) and 37 metal-ceramic (MC) implant-supported single-tooth restorations. A quasi-randomisation of consecutively included restorations in patients with one or more implants was used, i.e. a combination of parallel group (for 13 patients with one restoration) and split-mouth (for 23 patients with ≥2 restorations). All patients were recalled for basel

Cumulative costs for the prosthetic reconstructions and maintenance in young adult patients with birth defects affecting the formation of teeth.

OBJECTIVES: To assess retrospectively the cumulative costs for the long-term oral rehabilitation of patients with birth defects affecting the development of teeth. METHODS: Patients with birth defects who had received fixed reconstructions on teeth and/or implants > or =5 years ago were asked to participate in a comprehensive clinical, radiographic and economic evaluation. RESULTS: From the 45 patients included, 18 were cases with a cleft lip and palate, five had amelogenesis/dentinogenesis imperfecta and 22 were cases with hypodontia/oligodontia. The initial costs for the first oral rehabil

Second hematopoietic stem cell transplantation in pediatric patients: overall survival and long-term follow-up.

Despite potent intensive conditioning regimens, hematopoietic stem cell transplantation (HSCT) may fail because of either relapse of the malignancy or the rejection of the graft. We report on 27 pediatric patients who received a second HSCT from an allogeneic donor for relapsed malignancy or graft failure. One-year, 5-year, and 10-year probabilities of survival for all patients were 53%, 36%, and 24%, respectively. Twenty patients received second HSCTs for relapsed malignancy, of whom 6 were alive and disease free at the time of this report. Seven patients received a second HSCT for graft fail

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

OBJECTIVE: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by incomplete penetrance and variable expressivity. DESIGN: Clinical standardized assessment of 14 family members and a whole-exome sequencing (WES) of three affected subjects were performed. WES data analyses (sequence alignment, variant calling, annotation and prioritization) were carried out using an in-house implemented pipeline. Variant filt

Interdisciplinary treatment of a patient with bilateral cleft lip and palate and congenitally missing and transposed teeth.

The comprehensive treatment of a patient with cleft lip and palate requires an interdisciplinary approach for functional and esthetic outcomes. A 20-year-old woman with bilateral cleft lip and palate had a chief complaint of unesthetic appearance of her teeth and the presence of oronasal fistulae. Her clinical and radiographic evaluation showed a dolichofacial growth pattern, a Class II skeletal relationship with retroclined maxillary central incisors, 5 mm of negative overjet, maxillary constriction, maxillary and mandibular crowding, congenitally missing maxillary right incisors and left lat

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Tooth agenesis (TA) is one of the most common developmental anomalies that affects the number of teeth. An extensive analysis of publicly accessible databases revealed 15 causative genes responsible for nonsyndromic TA, along with their signaling pathways in Wnt/β-catenin, TGF-β/BMP, and Eda/Edar/NF-κB. However, genotype-phenotype correlation analysis showed that most of the causal genes are also responsible for syndromic TA or other conditions. In a total of 198 different mutations of the 15 genes responsible for nonsyndromic TA, 182 mutations (91.9%) are derived from seven genes (AXIN2, EDA,

A novel mutation of MSX1 in oligodontia inhibits odontogenesis of dental pulp stem cells via the ERK pathway.

BACKGROUND: Tooth agenesis, one of the most common developmental anomalies, can affect the function and esthetics of patients. The aim of the present study was to identify genetic clues for familial tooth agenesis and explore the underlying mechanisms, focusing on the role of human dental pulp stem cells (hDPSCs). METHODS: We applied Sanger sequencing to identify the cause of oligodontia in a Chinese family. DNA transfection and functional analysis in DPSCs was also performed to explore the impact of the identified mutation on this phenotype. RESULTS: In this study, a novel frameshift mutati

Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.

Pax9 is a paired domain-containing transcription factor that plays an essential role in the patterning of murine dentition. In humans, mutations in PAX9 are associated with unique phenotypes of familial tooth agenesis that mainly involve posterior teeth. Among these, a frameshift mutation (219InsG) within the paired domain of PAX9 produces a protein product associated with a severe form of molar agenesis in a single family. The objectives of this study were to gain new insights into the molecular pathogenesis of the 219InsG mutation and its role in tooth agenesis. Here we describe functional d

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC syndromes, respectively. These alleles, along with previously identified G134D (p.Gly173Asp) and R204W (p.Arg243Trp), were functionally characterized in yeast, studied in a mammalian cell line and modeled based on the crystal structure of the P63 DNA-binding domain. Although the p.Arg

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidiscip

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… Finally, FGF23-mediated hypophosphatemia has been reported in two ultrarare skeletal dysplasias: osteoglophonic dysplasia (characterized by rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple non-ossifying bone lesions) ( 75 ) and opsismodysplasia (a rare spondylo …

Integumentary System

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Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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