Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset < 12 years-old) were reviewed from 2011 to 2020. One hundred and six individuals (83 families) with suspicion of childhood-onset HSP were evaluated, being 68 (50 families) with solved genetic diagnosis, 6 (5 families) with candidate variants in HSP-related genes and 32 (28 families) with unsolved genetic diagnosis. The most common childhood-onset subtype was SPG4, 11/50 (22%) families with solved genetic diagnosis; followed by SPG3A, 8/50 (16%). Missense pathogenic variants in SPAST were found in 54.5% of probands, favoring the association of this type of variant to childhood-onset SPG4. Survival curves to major handicap and cross-sectional Spastic Paraplegia Rating Scale progressions confirmed the slow neurological deterioration in SPG4 and SPG3A. Most common complicating features and twenty variants not previously described in HSP-related genes were reported. These results are fundamental to understand the molecular and clinical epidemiology of childhood-onset HSP, which might help on differential diagnosis, patient care and guiding future collaborative trials for these rare diseases.

Abordagem periodontal e protética para o fechamento de diastemas ­ relato de caso / Periodontal and prosthetic approach to diastema closure - case report

O diastema é uma das queixas estéticas mais comuns em clínicas odontológicas e caracteriza-se por espaços distintos entre dois dentes, geralmente entre incisivos centrais. Sua solução é variada, o planejamento pode incluir ortodontia, cirurgias periodontais e restaurações diretas ou indiretas. O objetivo do presente trabalho é relatar um caso clínico de cirurgia periodontal prévia ao fechamento de diastemas com facetas de cerâmica. Paciente compareceu à clínica odontológica da Universidade Nilton Lins com queixa de insatisfação com seu sorriso. No exame intraoral, observou-se presença de diastemas entre os dentes anteriores em ambos os arcos. Inicialmente foram realizadas moldagem e montagem em articulador para correta avaliação e planejamento. Após análises de proporcionalidade e harmonia estética dos dentes anteriores foi proposta a realização de cirurgia de aumento de coroa clínica e reanatomização com facetas de cerâmica. Executou-se o procedimento cirúrgico nos dentes 11, 12, 13, 21, 22 e 23 e, após a cicatrização, nova moldagem dupla. Os modelos resultantes foram reproduzidos digitalmente, seguidos da confecção de enceramento de diagnóstico e impressão de modelos em 3D. Realizou-se o teste estético prévio com resina bisacrílica, com a aprovação da paciente, partiu-se para os preparos e nova moldagem do arco superior. A partir do enceramento, as facetas de cerâmica foram confeccionadas e, a seguir, instaladas com cimento resinoso dual. As técnicas empregadas proporcionaram uma harmonização satisfatória do sorriso, devolvendo a autoestima da paciente (AU).

Diastema is one of the most common aesthetic complaints in dental clinics, characterized by distinct spaces between two teeth, usually between central incisors. Its solution is varied and may include orthodontics, periodontal surgeries, and direct or indirect restorations. The aim of this study is to report a case report of periodontal surgery prior to the closure of diastemas with ceramic veneers. Patient attended the dental clinic of Nilton Lins University complaining of dissatisfaction with her smile. In the intraoral examination, diastema was observed between the anterior teeth in both arches. Initially were made molding and assembly in articulator for correct evaluation and planning. After analysis of proportionality and aesthetic harmony of the anterior teeth, it was proposed to perform the periodontal surgery and reanatomization with ceramic veneers. The surgical procedure was performed on teeth 11, 12, 13, 21, 22 and 23 and, after healing, a new double impression. The resulting models were digitally reproduced for diagnostic waxing followed by 3D model printing. The previous aesthetic test was performed with bisacrylic resin, with the patient's approval, the preparation was performed and the upper arch was re-molded. With the diagnostic waxing, the porcelain veneers were made and then installed with dual resin cement. The techniques employed provided a satisfactory harmonization of the smile, restoring the patient's self-esteem (AU).