[Primary failure of eruption (PFE). Clinical and molecular genetics analysis]. / Défaut primaire d'éruption (DPE). Analyse génétique clinique et moléculaire∗

BACKGROUND: The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown. PATIENTS AND METHODS: Four families were studied in whom at least two members were affected by non-syndromic PFE as part of a clinical and molecular genetics study. Radiological diagnostics (OPTs) were carried out in all patients and their unaffected relatives (control group). The genetic analysis included a genomewide linkage analysis followed by direct DNA sequencing of positional candidate genes. RESULTS: Starting from the index patients, we were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominant mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543 + 1G>A; c.463G>T). Unaffected persons exhibited no mutations. CONCLUSION: Knowledge of the genetic causes of non-syndromic PFE can now be used for the differential diagnosis of eruption failure. It permits affected family members to be identified early and may lead to new treatment possibilities in the long term. The genetically-verified diagnosis of "primary failure of eruption" can protect patients and orthodontists from years of futile treatment, because orthodontic treatment alone does not lead to success. Moreover, it has a negative influence on unaffected teeth and areas of the jaw.

Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

BACKGROUND: The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown. PATIENTS AND METHODS: Four families were studied in whom at least two members were affected by non-syndromic PFE as part of a clinical and molecular genetics study. Radiological diagnostics (OPTs) were carried out in all patients and their unaffected relatives (control group). The genetic analysis included a genomewide linkage analysis followed by direct DNA sequencing of positional candidate genes. RESULTS: Starting from the index patients, we were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominant mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543+1G>A; c.463G>T). Unaffected persons exhibited no mutations. CONCLUSIONS: Knowledge of the genetic causes of non-syndromic PFE can now be used for the differential diagnosis of eruption failure. It permits affected family members to be identified early and may lead to new treatment possibilities in the long term. The genetically-verified diagnosis of "primary failure of eruption" can protect patients and orthodontists from years of futile treatment, because orthodontic treatment alone does not lead to success. Moreover, it has a negative influence on unaffected teeth and areas of the jaw.

Orthodontic soldering techniques: aspects of quality assurance in the dental laboratory.

BACKGROUND: In Germany, the dental technician is required by the Medical Products Act (MPG) to produce workpieces of high safety and quality and to document these properties. Soldering continues to be the prevailing joining technique in the dental laboratory, although problems arise from the susceptibility to corrosion and the low strength of soldered joints. This study aimed to reveal sources of defects in dental laboratory workpieces in order to achieve optimization in terms of quality assurance. MATERIAL AND METHODS: The joints were produced by various dental technicians using three different soldering techniques. These joining techniques were investigated for their quality and their corrosion properties during immersion in ferric chloride, orthodontic appliance cleanser, and artificial saliva. Observance of the soldering instructions by the dental technicians was checked. Corrosion attack was confirmed by scanning electron microscopy and by measuring the ion concentrations of copper, silver and zinc in the corrosive agents, using atomic emission spectroscopy with stimulation by inductively coupled plasma (ICP-AES analysis). RESULTS AND DISCUSSION: Incomplete filling of the soldering gap, porosities resulting from the production process, poor corrosion properties, and in particular a high variability of the measured values point to insufficient reliability of two soldering techniques. Variations in quality were also detected among the technicians' modes of operation. CONCLUSION: The analyses confirm the need for quality assurance of soldering techniques and for increased support for alternative joining techniques such as laser welding in the future. The results of the studies on laser welding are presented in a separate publication.