Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.

OBJECTIVE: Duchenne muscular dystrophy (DMD) exon 45-55 deletion (del45-55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to understand the phenotypes and potential modifying factors of this dystrophinopathy subset. METHODS: This cross-sectional, multicenter cohort study applied clinical and functional evaluation. Next generation sequencing was employed to identify intronic breakpoints and their impact on the Dp140 promotor, intronic long noncoding RNA, and regulatory splicing sequences. DMD modifiers (SPP1, LTBP4, ACTN3) and concomitant mutations were also assessed. Haplotypes were built using DMD single nucleotide polymorphisms. Dystrophin expression was evaluated via immunostaining, Western blotting, reverse transcription polymerase chain reaction (PCR), and droplet digital PCR in 9 muscle biopsies. RESULTS: The series comprised 57 subjects (23 index) expressing Becker phenotype (28%), isolated cardiopathy (19%), and asymptomatic features (53%). Cognitive impairment occurred in 90% of children. Patients were classified according to 10 distinct index-case breakpoints; 4 of them were recurrent due to founder events. A specific breakpoint (D5) was associated with severity, but no significant effect was appreciated due to the changes in intronic sequences. All biopsies showed dystrophin expression of >67% and traces of alternative del45-57 transcript that were not deemed pathogenically relevant. Only the LTBP4 haplotype appeared associated the presence of cardiopathy among the explored extragenic factors. INTERPRETATION: We confirmed that del45-55 segregates a high proportion of benign phenotypes, severe cases, and isolated cardiac and cognitive presentations. Although some influence of the intronic breakpoint position and the LTBP4 modifier may exist, the pathomechanisms responsible for the phenotypic variability remain largely unresolved. ANN NEUROL 2022;92:793-806.

Traumatic dental injuries among schoolchildren in Valencia, Spain.

AIM: The aim of the present study was to identify some factors related to the occurrence of dental trauma in mixed and permanent dentition. DESIGN OF THE STUDY: Over a period of two months 1325, 6 to 18 year olds from three primary schools in Valencia were examined. Data was collected through clinical examinations and interviews and their Dental trauma was classified according to IADT's criteria. RESULTS: The prevalence of dental injuries was 6%; boys aged between 12-18 years old experienced more injuries than girls. There was a statistical difference between the types of fractures. Non complicated coronal fractures were the most frequent (9.18%). Games were the main cause of trauma (40%) in both sexes. In 14.3% of patients a dental colour change was observed. Angle's class I was the most frequent in traumatized injured children (41.2%). CONCLUSIONS: The present study revealed a relatively low prevalence of dental trauma, but this figure still represents a large number of children. Therefore, educational programs are to be initiated for the community regarding causes , prevention and treatments of traumatic dental injuries.

Incidence of traumatic dental injury in Valencia, Spain

BACKGROUND: While traumatic dental injuries (TDI) are an increasingly frequent occurrence in everyday dental practice, little research on TDIs has been published in Spain. The aim of this study was to determine the incidence of TDIs in a population in Valencia (Spain) and investigate influential variables. In addition, a protocol for TDI data collection is proposed. MATERIAL AND METHODS: This retrospective study compiled data from patients attending a private dental clinic between January 2003 and December 2014. The data were collected using a specially-elaborated protocol entitled "Emergency care of acute dental trauma". Patients responded to each item, and data was added from case radiographs and photographs. Data were entered in a Microsoft Office Excel spreadsheet and submitted for analysis by SPSS 15.0 software (Chicago, IL) applying 2-way analysis of variance (ANOVA) (p < 0.01). RESULTS: 481 TDIs in 251 patients were examined at a private dental practice in Valencia. The population comprised 62.5% men and 37.5% women, aged 1 to 78 years. The highest frequency of tooth injuries occurred in children aged 9 years or younger. The most frequent injury was non-complicated crown fracture (43.2%). Upper central incisors were the most commonly affected teeth. The most frequent place where TDI was produced was in the street (28.7%), tripping over an immobile object being the most common cause (29%). CONCLUSIONS: Thanks to the protocol elaborated for the purposes of this work, it was possible to compile a large quantity of data on TDI, facilitating future prevention and comparison with other regions. The results obtained concur with those published in the literature

No disponible

Comparison of the clinical effects of white brand toothbrushes versus Vitis Suave®.

BACKGROUND: There has been an increase in the use of white label manual toothbrushes and a greater increase in inquiries for discomfort of the gingiva and mucosa. MATERIAL AND METHODS: A randomized, double-blind, cross-over clinical trial was made of four white brand toothbrushes versus a control brush (Vitis Suave®), with the recording of plaque index, bleeding upon probing, and gingival abrasions following utilization of the different brushes. RESULTS: All the brushes except Deliplus® were equally effective in terms of plaque removal (p<0.05). Vitis Suave® and Veckia® were the brushes associated to the greatest increase in minor abrasions (p<0.01), while Veckia®, Carrefour® and Deluxe® significantly increased the number of medium intensity abrasions (p<0.05). These brushes also increased the number of large abrasions, though statistical significance was not reached in this case. CONCLUSIONS: The white brand brushes proved effective in controlling bacterial plaque, but were associated to more intense soft tissue abrasion. KEY WORDS: Gingival abrasions, manual tooth brushing, white brand, clinical effects.

Traumatic dental injuries among schoolchildren in Valencia, Spain

Aim: The aim of the present study was to identify some factors related to the occurrence of dental trauma in mixedand permanent dentition.Design of the study: Over a period of two months 1325, 6 to 18 year olds from three primary schools in Valenciawere examined. Data was collected through clinical examinations and interviews and their Dental trauma wasclassified according to IADT´s criteria. Results: The prevalence of dental injuries was 6%; boys aged between12-18 years old experienced more injuries than girls. There was a statistical difference between the types of fractures.Non complicated coronal fractures were the most frequent (9.18%). Games were the main cause of trauma(40%) in both sexes. In 14.3% of patients a dental colour change was observed. Angle´s class I was the most frequentin traumatized injured children (41.2%).Conclusions: The present study revealed a relatively low prevalence of dental trauma, but this figure still representsa large number of children. Therefore, educational programs are to be initiated for the community regardingcauses , prevention and treatments of traumatic dental injuries (AU)