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Endocrine Connections Mar 2023The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new... (Review)
Review
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research. We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge centre specifically on Klinefelter syndrome, where aspects on testosterone deficiency and the relation to bone, muscle and fat were discussed, as was infertility and the treatment thereof. Both trisomy X and 47,XYY syndrome are frequently affected by infertility. Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process in practise is often difficult. It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which were extensively discussed. New intervention projects were also described, and exciting new data concerning these were presented. Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child's specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have health care systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models. At the end of the workshop, a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.
PubMed: 36598290
DOI: 10.1530/EC-22-0500 -
American Journal of Orthodontics and... May 2023A failure of maxillary incisor eruption is commonly attributed to the presence of a supernumerary tooth. This systematic review aimed to assess the percentage of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
A failure of maxillary incisor eruption is commonly attributed to the presence of a supernumerary tooth. This systematic review aimed to assess the percentage of impacted maxillary incisors that successfully erupt after surgical removal of supernumerary teeth with or without other interventions.
METHODS
Systematic literature searches without restrictions were undertaken in 8 databases for studies reporting any intervention aimed at facilitating incisor eruption, including surgical removal of the supernumerary alone or in conjunction with additional interventions published up to September 2022. After duplicate study selection, data extraction, and risk of bias assessment according to the risk of bias in nonrandomized studies of interventions and Newcastle-Ottawa scale, random-effects meta-analyses of aggregate data were conducted.
RESULTS
Fifteen studies (14 retrospective and 1 prospective) were included with 1058 participants (68.9% male; mean age, 9.1 years). The pooled eruption prevalence for removal of the supernumerary tooth with space creation or removal of the supernumerary tooth with orthodontic traction was significantly higher at 82.4% (95% confidence interval [CI], 65.5-93.2) and 96.9% (95% CI, 83.8-99.9) respectively, compared with removal of an associated supernumerary only (57.6%; 95% CI, 47.8-67.0). The odds of successful eruption of an impacted maxillary incisor after removal of a supernumerary were more favorable if the obstruction was removed in the deciduous dentition (odds ratio [OR], 0.42; 95% CI, 0.20-0.90; P = 0.02); if the supernumeraries were conical (OR, 2.91; 95% CI, 1.98-4.28; P <0.001); if the incisor was in the correct position (OR, 2.19; 95% CI, 1.14-4.20; P = 0.02), at the level of the gingival third (OR 0.07; 95% CI, <0.01-0.97; P = 0.04) and had incomplete root formation (OR, 9.02; 95% CI, 2.04-39.78; P = 0.004). Delaying removal of the supernumerary tooth 12 months after the expected eruption time of the maxillary incisor (OR, 0.33; 95% CI, 0.10-1.03; P = 0.05) and waiting >6 months for spontaneous eruption after removal of the obstacle (OR, 0.13; 95% CI, 0.03-0.50; P = 0.003) was associated with worse odds for eruption.
CONCLUSIONS
Limited evidence indicated that the adjunctive use of orthodontic measures and removal of supernumerary teeth might be associated with greater odds of successfull impacted incisor eruption than removal of the supernumerary tooth alone. Certain characteristics related to supernumerary type and the position or developmental stage of the incisor may also influence successful eruption after removal of the supernumerary. However, these findings should be viewed with caution as our certainty is very low to low because of bias and heterogeneity. Further well-conducted and reported studies are required. The results of this systematic review have been used to inform and justify the iMAC Trial.
Topics: Humans; Male; Child; Female; Incisor; Tooth, Supernumerary; Retrospective Studies; Prospective Studies; Tooth, Impacted; Tooth Eruption; Maxilla
PubMed: 36907703
DOI: 10.1016/j.ajodo.2023.01.004 -
Global Medical Genetics Jun 2022The development of tooth is a highly complex procedure and mastered by specific genetic programs. Genetic alterations, environmental factors, and developmental timing... (Review)
Review
The development of tooth is a highly complex procedure and mastered by specific genetic programs. Genetic alterations, environmental factors, and developmental timing can disturb the execution of these programs, and result in various dental anomalies like hypodontia/oligodontia, and supernumerary teeth, which are commonly seen in our clinical practice. Advances in molecular research enabled the identification of various genes involved in the pathogenesis of dental anomalies. In the near future, it will help provide a more accurate diagnosis and biological-based treatment for these anomalies. In this article, we present the molecular phenomenon of tooth development and the genetics of various dental anomalies.
PubMed: 35707781
DOI: 10.1055/s-0042-1743572 -
Plants (Basel, Switzerland) Mar 2021B chromosomes (Bs) are supernumerary dispensable genomic elements that have been reported in several thousand eukaryotic species. Since their discovery, Bs have been... (Review)
Review
B chromosomes (Bs) are supernumerary dispensable genomic elements that have been reported in several thousand eukaryotic species. Since their discovery, Bs have been subjected to countless studies aiming at the clarification of their origin, composition, and influence on the carriers. Despite these efforts, we still have very limited knowledge of the processes that led to the emergence of Bs, the mechanisms of their transmission, and the effects of Bs on the hosts. In the last decade, sophisticated molecular methods, including next-generation sequencing, have provided powerful tool to help answer some of these questions, but not many species have received much attention yet. In this review, we summarize the currently available information about Bs in the genus , which has so far been on the periphery of scientific interest. We present an overview of the occurrence and characteristics of Bs in various species, discuss the possible mechanisms involved in their maintenance and elimination, and outline hypotheses of the origin of Bs in this genus.
PubMed: 33803087
DOI: 10.3390/plants10030505