Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology

BACKGROUND: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature.METHODS: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles.RESULTS: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue.CONCLUSION: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia

Friedreich's ataxia (FRDA) is an untreatable disorder with neuro- and cardio-degenerative progression. This monogenic disease is caused by the hyper-expansion of naturally occurring GAA repeats in the first intron of the FXN gene, encoding for frataxin, a protein implicated in the biogenesis of iron-sulfur clusters. As the genetic defect interferes with FXN transcription, FRDA patients express a normal frataxin protein but at insufficient levels. Thus, current therapeutic strategies are mostly aimed to restore physiological FXN expression. We have previously described SINEUPs, natural and synthetic antisense long non-coding RNAs, which promote translation of partially overlapping mRNAs through the activity of an embedded SINEB2 domain. Here, by in vitro screening, we have identified a number of SINEUPs targeting human FXN mRNA and capable to up-regulate frataxin protein to physiological amounts acting at the post-transcriptional level. Furthermore, FXN-specific SINEUPs promote the recovery of disease-associated mitochondrial aconitase defects in FRDA-derived cells. In summary, we provide evidence that SINEUPs may be the first gene-specific therapeutic approach to activate FXN translation in FRDA and, more broadly, a novel scalable platform to develop new RNA-based therapies for haploinsufficient diseases

Atypical deglutition: diagnosis and interceptive treatment: clinical study

AIM: The aim of this study was to evaluate the early treatment of atypical deglutition, by analysing the efficacy of the eruptive guide appliance Habit Corrector™. MATERIALS AND METHODS: The pre- and post-treatment (T1 and T2) cephalometric data of 2 groups of patients (G1 and G2), both consisting of 25 patients each and treated with Habit Corrector™, were compared. The first group included 10 males and 15 females, aged between 4 and 7 years old, with average age 6.17 years, and therefore undergoing the last phase of primary dentition and the first phase of mixed dentition. The second group included 12 males and 13 females, aged between 8 and 12 years old, with average age 9.19 years old, undergoing the second phase of mixed dentition. The overall duration of the treatment was 12 months. RESULTS: The results showed significant differences between the two groups, with respect to overbite, overjet, molar relation, inclination of the upper and lower incisors, position of the jaw. A significant variation between the two groups at T2 was registered for the maxillomandibular relationships: the increase in the growth and degree of mandibular protrusion was of 4.66° in G1 and 2.44° in G2. Significant changes were registered for the position or growth of the upper jaw; the upper facial height almost remained unaltered, with 53.34° for G1 and with 53.96° for G2. A significant variation occurred with the increase in the sagittal relationship between the molars, improved in G1 by 3.14 mm and in G2 by 2.61 mm. A significant decrease of overjet was registered in G1 by 1.94 mm and in G2 by 0.76 m and an increase of overbite in G1 by 3.14 mm and in G2 by 0.88 mm. The inclination of the maxillary and mandibular incisors improved, with an inter-incisive angle of 123° in G1 and 124.2° in G2. CONCLUSION: The clinical results obtained suggest that early intervention in atypical deglutition with Habit Corrector™ is able to produce significant results in primary dentition and in the first phase of mixed dentition, rather than in the late phase of mixed dentitio

Agrumi: erosione dentale e fluoro. Prima parte

Aim of the work. The aim of the study was to evaluate erosion effectiveness and fluoride concentration of pure citrus drinks and citrus soft drinks. Materials and methods. 7 pure citrus drinks and 12 citrus soft drinks were considered. In both cases, samples were analyzed for pH and fluoride concentration. The measurement of pH was carried out using a pH electrode connected with GLP 22 Crison® pHmeter. Fluoride concentration was carried out using a selective electrode Crison®. Results. The study demonstrated that both pure citrus drinks and citrus soft drinks show pH values ranged between 3.6 and 1.8 and thus lower respect to critical pHs which are expected for enamel and dentine demineralization and dissolution. Regarding fluoride, measurements carried out on citrus soft drinks, generally show an absence of this ion and, only in three cases, concentrations ranged between 0.1 and 0.16 ppm. Conclusion. Our data showed that erosive potential of pure citrus drinks and citrus soft drinks is capable of dissolving, in vitro, considerable amounts of enamel and dentine. In vivo, erosion is probably limited from many factors as calcium concentration and saliva buffering effect. Absence or very little concentration of ionic fluoride dissolved in tested drinks was observed

Caratteristiche meccaniche degli elastici extraorali - Analisi dinamica (I Parte)

Aim: This was to compare craniofacial and body growth during prepubebertal period using direct medical anthropemetry for body and craniofacial measurement. Methods: the sample consits of 100 patiets (48 male, 52 female), aged between 7 and 12 years. Thirty craniofacial and bodymeasurements of height, width, leght and circumference were made on each subject. Statistical analysis: Comparisons were made of averanges, percentanges and standard deviation, for three growth patterns during prepubertal period: cranial, facial and body growth pattern. Linear correlation coefficient (r)were calculated to evaluete the intensity of the interdependence between variables using BMDT Dynamic software. Results: Skull and face measurements increase less then body dimensions, but those for the face increased more than for the skull, which was valid both for male and female. Differences between males and females were determineted for standing height, mandibular height (T-Go) and lower facial height (Sto-Gn). Conclusions: No body parameters was found to be a good indicator of facial growth during this period. the jaw was found to be the facial area that showed the higher developmen

Oral lesions in paediatric patients with graft-versus-host disease

This work aims at assessing and describing the most frequent clinical manifestations of the Graft-versus-Host Disease (GvHD) in the oral and maxillofacial region in paediatric patients affected by neoplastic or non neoplastic haematologic disorders undergo specific hematopoietic stem cell transplantation (HSCT) protocols, with a view to detecting the potential pathological modifications which are recognised as the cause of a possible altered harmonious development of the child. Thirty-eight paediatric patients aged between 3 and 13 who underwent hematopoietic stem cell transplantation for neoplastic or non neoplastic haematological disorders were assessed on the basis of their medical history and accurate clinical and instrumental exams, in order to make a correct diagnosis, preliminarily assess oral conditions, detect possible oral pathological manifestations and evaluate their incidence both locally and in terms of clinical severity, as well as to mitigate associated symptoms. This was done to prevent and eliminate any oral interference in the systemic treatment protocol. In line with the data presented in the Literature, clinical GvHD manifestations seem to mainly involve the oral and maxillofacial region from an early phase also in paediatric patients. As a consequence, a timely diagnosis and a multidisciplinary treatment programme are essential to get to an early detection of the oral signs of potential systemic complications, to improve the quality of life of these young patients, as well as to prevent any potential alterations of dentoskeletal development and growth in the child

Cervical vertebral maturation and dental age in coeliac patients

Aim: The aim of the study was to evaluate the cervical vertebral maturation and dental age, in group of patients with coelic disease (CD), in comparison with a control group of healthy subjects. Methods: At the Paediatric Dentistry Unit of PTV Hospital, “Tor Vergata” University of Rome, 120 female patients, age range 12.0–12.9 years were recruited. Among them, 60 subjects (Group 1) were affected by CD, while the control group (Group 2) consisted of 60 healthy subjects, sex and age-matched. The Group 1 was subdivided, according to the period of CD diagnosis, in Group A (early diagnosis) and Group B (late diagnosis). The skeletal age was determined by assessing the cervical vertebral maturation, while the dental age has been determined using the method codified by Demirjiyan. Statistics: The analyses were performed using the SPSS software (version 16; SPSS Inc., Chicago IL, USA). In all the assessments a significant level of alpha = 0.05 was considered. Results: There are no statistically significant differences between Group 1 and Group 2 as for chronological age (p=0.122). Instead, from the assessment of skeletal-dental age, there are statistically significant differences between Group 1 - Group 2 (p<0.001) and Group A - Group B (p<0.001). The statistical analysis carried out to assess the differences between chronological and skeletal-dental age within the single groups, show a statistically significant difference in Group 1 (p<0.001) and in Group B (p<0.001), while there are no statistically significant differences in Group 2 (p=0.538) and in Group A (p=0.475). A correlation between skeletal and dental age was registered; for Groups 1–2 and for Groups A–B the Pearson coefficient was respectively equal to 0.967 and 0.969, with p<0.001. Through the analysis of data it is possible to assess that the percentage of subjects with skeletal and dental age delay corresponds to 20% in healthy subjects, 56.7% in coeliac subjects, 23% in coeliac subjects with early diagnosis and 90% in coeliac subjects with late diagnosis. From the comparison between Group 2 and Group A there are no statistically significant differences (p=0.951). Conclusions. The skeletal age and dental age delay may be two predictive indexes for a CD diagnosis. The dental age and cervical vertebral maturity can be assessed with a low cost, non invasive, easy to perform exam carried out through the routine radiographic examinations such as orthopanoramic and lateral teleradiography