Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

OBJECTIVES: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. Study DESIGN: Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out. RESULTS: No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. CONCLUSIONS: These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies

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Tooth movement in orthodontic treatment with low-level laser therapy: a systematic review of human and animal studies.

OBJECTIVE: This review attempts to organize the existing published literature regarding tooth movement in orthodontic treatment when low-level laser therapy (LLLT) is applied. BACKGROUND DATA: The literature discusses different methods that have been developed to motivate the remodeling and decrease the duration of orthodontic treatment. The application of LLLT has been introduced to favor the biomechanics of tooth movements. However there is disagreement between authors as to whether LLLT reduces orthodontic treatment time, and the parameters that are used vary. MATERIALS AND METHODS: Studies in humans and animals in which LLLT was applied to increase the dental movement were reviewed. Three reviewers selected the articles. The resulting studies were analyzed according to the parameters used in the application of laser and existing changes clinically and histopathologically. RESULTS: Out of 84 studies, 5 human studies were selected in which canine traction had been performed after removing a premolar, and 11 studies in rats were selected in which first premolar traction was realized. There were statistically significant changes in four human studies and eight animal studies. CONCLUSIONS: Varying the wavelength with a reasonable dose in the target zone leads to obtaining the desired biological effect and achieving a reduction of the orthodontic treatment time, although there are studies that do not demonstrate any benefit according to their values.

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.

OBJECTIVE: In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. STUDY DESIGN: Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out. RESULTS: No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. CONCLUSIONS; These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies.

Mandible measurements and dental midline deviation after alveolar nerve transection in growing rabbits / Medidas mandibulares y desviación de la línea mediana dental luego de la transección del nervio alveolar inferior en conejos en crecimiento

The relationship between sensitive innervation and normal mandibular bone development has been described in the literature. Therefore, neural damage is a potential cause of osseous deformities, particularly in growing subjects. The aim of this project is to present the mandible measurements obtained after the transection of the inferior alveolar nerve of growing rabbits. A specific surgical protocol was designed to carry out the unilateral nerve transection by avoiding musculoskeletal injuries. Twenty New Zealand White rabbits one week post-weaning were used, 12 as an experimental group and 8 as a control group (Sham operated). The animals were sacrificed 90 days postoperatory, and the mandibles carefully dissected. Dental midline deviation data were obtained under anesthesia, previous to sacrifice. All measurements were obtained with a micron digital caliper. For this study, only anterior-posterior measurements were obtained from five points specifically determined on the rabbit mandible. Each measurement was made three times by the same examiner and the average value was considered. Regarding the anterior-posterior measurements, the molar and incisive regions of the denervated hemimandible were significantly shorter than the corresponding regions in the non-denervated side. The control group did not show these differences. A dental midline deviation was observed, but not always directed on the operated side. However, the deviation values were greater when oriented to the denervated side. These changes did not cause evident deformity or dysfunction in the masticatory system of the animals. They were fed normally and their weight was considered within normal parameters while growing. Despite the biological relationship between sensory inervation and bone morphology, the effect of sensory denervation in early stages of bone growth appears to generate only small alterations on the mandible morphology. However, these alterations do not lead to functional proble...

Se ha descrito una importante relación entre la inervación sensitiva y aspectos biológicos mandibulares. Consecuentemente, el daño a la estructura nerviosa es una causa potencial de alteraciones en el desarrollo mandibular, sobre todo en etapas de crecimiento. El objetivo de este trabajo es presentar mediciones mandibulares realizadas posterior a una lesión del nervio sensitivo en una etapa temprana de crecimiento. Se diseñó un protocolo quirúrgico para realizar la transección del nervio alveolar inferior sin lesionar estructuras musculoesqueléticas. Veinte conejos Neo zelandeses blancos fueron utilizados, una semana post-destete, 12 como grupo experimental y 8 como grupo control. Los animales fueron sacrificados 90 días después y las mandíbulas cuidadosamente disecadas. La información de la desviación de la línea media se obtuvo bajo anestesia, previo al sacrificio. Todas las mediciones se obtuvieron con un calibrador digital. Las medidas antero-posteriores se obtuvieron a partir de cinco puntos específicamente determinados en la mandíbula del conejo. En cuanto a las medidas antero-posteriores, las región molar e incisiva de las hemimandíbulas denervadas fueron significativamente menores que la correspondiente del lado no denervado. El grupo control no mostró esta diferencia. La línea media dental siempre se observó desviada, pero no siempre hacia el lado intervenido. Sin embargo, la media de desviación fue mayor cuando ésta se orientó hacia el lado denervado. Estos cambios no causaron deformidad evidente o disfunción en el sistema masticatorio de los animales, los cuales se alimentaron normalmente. El peso de los mismos fue considerado dentro de los parámetros normales. A pesar de la relación biológica entre la inervación sensitiva y la morfología del hueso, el efecto de la denervación sensitiva en las primeras etapas de crecimiento parece generar sólo pequeñas alteraciones en la morfología mandibular. Sin embargo, éstas no conducen a problemas funcionales...

Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location.

We describe results from a mutational analysis of the region of the dentin sialophosphoprotein (DSPP) gene encoding dentin phosphoprotein (DPP) in 12 families with dominantly inherited dentin diseases. In eight families (five mutations in the N-terminal third of DPP), the clinical and radiologic features were uniform and compatible with dentin dysplasia type II (DD-II) with major clinical signs in the deciduous dentition. In the other families (four mutations in the more C-terminal part), the permanent teeth also were affected, and the diseases could be classified as variants of dentinogenesis imperfecta. Attrition was not prominent, but periapical infections were common. Discoloring with varying intensity was evident, and pulps and root canals were obliterated in the permanent dentition. All mutations caused a frameshift that replaced the Ser-Ser-Asx repeat by a code for a hydrophobic downstream sequence of approximately original length. We conclude that frameshift mutations in DSPP explain a significant part of dentin diseases. Furthermore, we propose that the location of the mutation is reflected in the phenotypic features as a gradient from DD-II to more severe disease that does not conform to the classic definitions of DI-II.

An epidemiological study of dental agenesis in a primary health area in Spain: Estimated prevalence and associated factors

Objectives: To evaluate the prevalence of dental agenesis and its possible association with other developmental dental anomalies and systemic entities.Setting and Sample Population: Descriptive transversal study, for which 1518 clinical records, of patients visited by the Odontological Service of the Primary Health Centre of Cassà de la Selva (Girona-Spain) between December 2002 and February 2006 were reviewed. The data were recorded in relation to the oral and dental anomalies and the associated systemic entities, between the ones referred as concomitant in literature. Results: Values of 9.48% (7.25% excluding the third molars) for dental agenesis and 0.39% for oligodontia were obtained. The presence of dental agenesis concomitant with some other forms of oral and dental anomalies was observed. Attention must be drawn to the fact that a greater number of concomitant systemic entities were observedin those patients that presented a severe phenotypical pattern of dental agenesis.Conclusions: The results of the present study do not differ from the ones reported in studies of similar characteristics among Occidental and Spanish populations. The relationship observed between certain systemic entities and developmental dental anomalies suggest a possible common genetic etiology (AU)

Oral findings in Midline Syndrome: A case report and literature review

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele,iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic,her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of themidline syndrome in carriers as well as in the patients (AU)

Oral findings in Midline Syndrome: a case report and literature review.

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients.

An epidemiological study of dental agenesis in a primary health area in Spain: estimated prevalence and associated factors.

OBJECTIVES: To evaluate the prevalence of dental agenesis and its possible association with other developmental dental anomalies and systemic entities. SETTING AND SAMPLE POPULATION: Descriptive transversal study, for which 1518 clinical records, of patients visited by the Odontological Service of the Primary Health Centre of Cassà de la Selva (Girona-Spain) between December 2002 and February 2006 were reviewed. The data were recorded in relation to the oral and dental anomalies and the associated systemic entities, between the ones referred as concomitant in literature. RESULTS: Values of 9.48% (7.25% excluding the third molars) for dental agenesis and 0.39% for oligodontia were obtained. The presence of dental agenesis concomitant with some other forms of oral and dental anomalies was observed. Attention must be drawn to the fact that a greater number of concomitant systemic entities were observed in those patients that presented a severe phenotypical pattern of dental agenesis. CONCLUSIONS: The results of the present study do not differ from the ones reported in studies of similar characteristics among Occidental and Spanish populations. The relationship observed between certain systemic entities and developmental dental anomalies suggest a possible common genetic etiology.

Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.

The objective of the present work was to study the phenotype and the genotype of three generations of a family affected by oligodontia and other dental anomalies. These family members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, and congenital cardiovascular anomalies. Clinical evaluation, panoramic radiographs, and anamnestic data were used for dental analysis. DNA extraction was carried out from gum samples or buccal swabs. A mutation was identified in six subjects across three generations affected by oligodontia, as well as different phenotypical manifestations, both systemic and oral. The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the change of arginine 59 for a termination codon. These results strongly suggested that the identified mutation was the etiological cause of the oligodontia. However, in two family members affected by both hypodontia and peg-shaped upper lateral incisors, no mutations in the PAX9 and MSX1 genes were identified. This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies.