ABSTRACT
Objetivo: Identificar el estado de salud periodontal en pacientes con discapacidad en custodia versus pacientes independientes en su higiene oral. Material y métodos: Se examinaron pacientes con discapacidad, ambos sexos, 3 a 19 años que acuden al Servicio de Odontopediatría del Centro de Rehabilitación Infantil Teletón (CRIT) Tamaulipas mediante revisión de cavidad oral y aplicación del Índice de Higiene Oral Simplificado (IHOS), Índice Periodontal Comunitario de la Necesidad de Tratamiento (IPCNT) y entrevista con su cuidador primario. Se agruparon en dos categorías: Independientes y de Custodia. Resultados: En el total de la muestra la Media y Desviación estándar (D.E.) de IPCNT fue de 0.89±0.54, así como el IHOS de 1.88±0.77. El IPCNT en pacientes con discapacidad de Custodia fue 0.91±0.57 e Independientes de 0.86±0.49 (p=0.70), IHOS en pacientes de Custodia 1.89±0.78 e Independientes 1.87±.0.74 (p=.93). IPCNT en géneros masculino 1.03±0.54 y femenino 0.75±0.51 (p=.009). IHOS en pacientes que habitan área rural 2.41±1.25 y área urbana 1.83±0.68 (p=.02). Relación entre la edad y la necesidad de tratamiento periodontal (p=0.001). Frecuencia del cepillado del grupo Independientes 2.03±0.56 y de Custodia 2.00±0.75 (p=.84). Conclusiones: No existe diferencia en el estado de salud periodontal y el grado de higiene oral entre pacientes con discapacidad Independientes y de Custodia. La mayoría de los pacientes Independientes y de Custodia tienen una necesidad de tratamiento de Instrucción de Higiene Oral (TN1) y tienen Higiene Oral Regular.
Objetivo: Identificar o estado de saúde periodontal em pacientes com deficiência e sob custódia versus os pacientes independentes, em sua higiene oral. Métodos: Foram examinados pacientes com deficiência, de ambos os sexos, 3 e 19 anos, que frequentam o Serviço de Odontopediatria do Centro de Reabilitação Infantil Teleton (CRIT), Tamaulipas, através de exame da cavidade bucal e aplicação do Índice de Higiene Oral Simplificado (OHI), Índice Periodontal Comunitário de Necessidade de Tratamento (IPCNT) e entrevista com o seu cuidador principal. Foram agrupados em duas categorias: Independentes e Custódia. Resultados: No total da amostra a média e o desvio padrão (DP) foi de 0,89 ± 0,54 IPCNT, bem como de 1,88 ± 0,77 IHOS. Nos pacientes com deficiência sob custódia o IPCNT foi de 0,91 ± 0,57 e Independente de 0,86 ± 0,49 (p = 0,70), OHI-S em pacientes 1,89 ± 0,78 e 1,87 ± Custódia .0.74 independente (p = .93). IPCNT no sexo masculino e feminino 1,03 ± 0,54 0,75 ± 0,51 (p = 0,009). IHOS pacientes que vivem em áreas rurais e 2,41 ± 1,25 ± 1,83 urbana 0,68 (p = .02). Relação entre a idade e a necessidade de tratamento periodontal (p = 0,001). A freqüência de escovação do grupo Independente de 2,03 ± 0,56 e 2,00 ± 0,75 Custódia (p = 0,84). Conclusões: Não há diferença no estado de saúde periodontal e nível de higiene oral em pacientes com deficiência Independente e Custódia. A maioria dos pacientes independentes e sob custódia têm uma necessidade para o tratamento de Instrução de Higiene Bucal (TN1) e possuem uma higiene bucal regular.
Objective: To identify periodontal health status in patients with disabilities of Custody versus independent patients in oral hygiene. Material and methods: We examined patients with disabilities, both sexes, 3 to 19 years presenting at the Pediatric Dentistry Children's Rehabilitation Center Telethon (CRIT) Tamaulipas oral cavity by reviewing and implementing the Simplified Oral Hygiene Index (OHI) Community Periodontal Index of Treatment Need (IPCNT) and interview with their primary caregiver. Were grouped into two categories: Independent and Custodia. Results: In the total sample the mean and standard deviation (SD) was 0.89 IPCNT ± 0.54, as well as of 1.88 ± 0.77 IHOS. The IPCNT disabled patients was 0.91 ± 0.57 Custody and Independent of 0.86 ± 0.49 (p = 0.70), OHI-S in patients 1.89 ± 0.78 Custody and 1.87 ± .0.74 Independent (p = .93). IPCNT in male gender and female 1.03 ± 0.54 0.75 ± 0.51 (p = .009). IHOS patients living in rural areas and 2.41 ± 1.25 ± 1.83 urban 0.68 (p = .02). Relationship between age and the need for periodontal treatment (p = 0.001). Frequency of brushing the Independent group 2.03 ± 0.56 and 2.00 ± Custody 0.75 (p = .84). Conclusions: There is no difference in periodontal health status and level of oral hygiene among patients with disabilities and Independent Custody. Most Independent Custody patients have a need for treatment of Oral Hygiene Instruction (TN1) and have regular oral hygiene.
Subject(s)
Humans , Periodontal Diseases , Periodontal Diseases/diagnosis , Custodial Care , Intellectual DisabilityABSTRACT
Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the TBP gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted alleles, thus greatly increasing the number of known intergenerational transmissions of such alleles. We found that uninterrupted SCA17 alleles are unstable, associated with anticipation, and show a paternal expansion bias that increases with age. Even small increments in repeat length resulted in inordinate increases in anticipation. Anticipation was also associated with childhood presentation. Sequencing of all SCA17 alleles is required for effective genetic counseling.
Subject(s)
Anticipation, Genetic , Spinocerebellar Ataxias/genetics , TATA-Box Binding Protein/genetics , Trinucleotide Repeat Expansion/genetics , Adolescent , Adult , Age of Onset , Alleles , Child , Disease Progression , Female , Humans , Male , Mexico , Middle Aged , Pedigree , Sex Distribution , Spinocerebellar Ataxias/diagnosisABSTRACT
Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)(33) allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.