ABSTRACT
PURPOSE: To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs). METHODS: Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients. RESULTS: L750V was present in homozygous or heterozygous state in 37 (86%) patients and was transmitted on the same haplotype to patients from different states of Mexico. We also identified a second founder mutation, c.2810+2T>G in eight (18.1%) patients, and a novel premature stop-codon mutation W653*. CONCLUSION: Our data confirm the strong founder effect for L750V, which appears to be the most common mutation in NLRP7. We also report on six healthy live births to five patients with biallelic NLRP7 mutations, two from spontaneous conceptions and four from donated ovum and discuss our recommendations for DNA testing and genetic counseling.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Founder Effect , Hydatidiform Mole/genetics , Mutation , Female , Haplotypes , Heterozygote , Humans , Live Birth , Mexico , Polymorphism, Single Nucleotide , PregnancyABSTRACT
Background: Confinement due to the COVID-19 pandemic has made dental treatments impossible in Chile and many other countries, including diabetic patients with periodontitis. The aim of the present study was to evaluate the impact of periodontal therapy in terms of oral health-related quality of life (OHRQoL) during the COVID-19 pandemic in a cohort of diabetic patients with periodontitis. Material and Methods: Thirty-eight diabetic patients with stage III-IV periodontitis, enrolled for periodontal therapy, were screened. Periodontal clinical parameters including clinical attachment loss (CAL), probing pocket depth (PPD) and bleeding on probing (BOP) as well as glycated hemoglobin (HbA1c) were evaluated at baseline and 3 months follow-up prior the pandemic. The OHRQoL changes by means of Oral Health Impact Profile (OHIP-14) and a self-reported oral health questionnaire were assessed at baseline (prior pandemic) and during the pandemic via telemonitoring. Results: Thirty-one patients received non-surgical periodontal therapy prior to the pandemic. Out of the 31 patients, four died due to COVID-19 resulting in 27 patients available for telemonitoring at the time of the pandemic. Periodontal therapy significantly improved CAL, PPD and BOP (p < 0.05) but not HbA1c (p > 0.05) between baseline and 3 months follow-up pior to the pandemic. Total OHIP-14 scores significantly improved between baseline and the middle of pandemic (intragroup comparison p = 0.00411). In particular, OHIP-14 scores related to the "Physical pain" (intragroup comparison p = 0.04) and "Psychological disability" (intragroup comparison p = 0.00) significantly improved between baseline and the middle of pandemic. Conclusions: In diabetic type II patients with periodontitis periodontal therapy tends to improve the oral health-related quality of life despite the COVID-19 pandemic.
ABSTRACT
RESUMEN: Objetivo: Evaluar la eficacia de L. reuteri como adjunto en el tratamiento de la gingivitis. Material y Métodos: Se realizó un ensayo clínico aleatorizado placebo controlado en sujetos con gingivitis durante 3 meses. El grupo test recibió una tableta por día de la cepa probiótica Lactobacillus reuteri (dosis 2x10(8) UFC por día), el grupo control recibió las mismas tabletas pero sin bacterias vivas. La variable de resultado principal fue el índice gingival (IG), y las variables de resultado secundarias fueron el índice de placa (IP) y el índice de sangrado al sondaje (IS). Se realizó comparación intra e inter-grupos en el basal y al finalizar la intervención (3 meses). Resultados: Fueron incluidos en el análisis un total de 30 sujetos (15 test, 15 control). No hubo diferencias estadísticamente significativas entre los grupos en el basal (p> 0.05). Después de 3 meses de intervención se produjo en ambos grupos una disminución estadísticamente significativa en el índice gingival, índice de sangrado al sondaje e índice de placa (p< 0.05). Se detectó una significativa reducción en el número de sitios con IG 2 solo en el grupo test (p< 0.05). Conclusiones: El uso de tabletas de probiótico con L. reuteri como adjunto en el tratamiento de la gingivitis, produce una significativa reducción en el número de sitios que presentan inflamación más severa.
ABSTRACT: Aim: To evaluate the efficacy of L. reuteri as adjunct in the treatment of the gingivitis. Materials and Methods: A placebo-controlled clinical trial was conducted in gingivitis subjects for 3 months. Test treatment consisted of the administration of one tablet per day containing the probiotic strain Lactobacillus reuteri (doses 2x10(8) UFC per day), the control group received the same tablets but without live bacteria. The main outcome variable was the change in gingival index (GI), and the secondary outcome variables were the plaque index (PII) and the bleeding on probing (BoP). Outcome variables were compared between and within groups at baseline and at the end of intervention (3 months). Results: A total of 30 subjects (15 test, 15 control) were included in the analysis. No statistically significant differences were found between the groups at baseline (p> 0.05). Both treatment groups experienced a statistically significant improvement in the GI, PII and BoP (p < 0.05). There was a significant reduction in the number of sites with GI 2 only in the test group (p< 0.05). Conclusions: The use of probiotic tablets containing L. reuteri produces a significant reduction in the number of sites with severe inflammation.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Therapeutics , Periodontal Index , Limosilactobacillus reuteri , Gingivitis , Hemorrhage , InflammationABSTRACT
Objetivo El objetivo de este ensayo clínico aleatorizado, doble ciego, de brazos paralelos y controlado por placebo fue evaluar el efecto clínico del consumo de Lactobacillus rhamnosus SP1 en un polvo de disolución oral, adicional a la terapia periodontal no quirúrgica. Material y método Cuarenta y nueve sujetos fueron examinados para participar en este estudio. Veintiocho participantes sistémicamente sanos, con diagnóstico de periodontitis crónica, fueron reclutados y monitorizados clínicamente en el tiempo basal, 3 y 6 meses después de la terapia periodontal. Los parámetros clínicos registrados fueron presencia de placa, sangrado al sondaje, profundidad al sondaje y pérdida de inserción clínica. Todos recibieron terapia periodontal no quirúrgica, incluyendo pulido y alisado radicular (PAR), y fueron asignados aleatoriamente al grupo experimental (PAR + probiótico, n = 14) o control (PAR + placebo, n = 14). Luego de la última sesión de PAR debieron ingerir un sobre con polvo de disolución oral de Lactobacillus rhamnosus SP1 o placebo, una vez al día durante 3 meses. Resultados Ambos grupos mejoraron sus parámetros clínicos en todos los tiempos evaluados. Además, el grupo experimental redujo significativamente el porcentaje de sitios, dientes y número de participantes con profundidad al sondaje ≥ 5 mm entre el tiempo basal y los 6 meses postratamiento. Conclusiones La administración oral de L. rhamnosus SP1 asociado a la terapia periodontal genera similares mejorías en los parámetros clínicos comparado con solo usar terapia periodontal en el tratamiento de la periodontitis crónica en adultos.
Objective The aim of this double- blind, placebo- controlled parallel- arm, randomised clinical trial was to evaluate the clinical effects of a sachet of Lactobacillus rhamnosus SP1-containing probiotic as an adjunct to non-surgical therapy. Material and method Fourty- nine subjects were screened for their elegibility to participate in this study. Twenty-eight systemically healthy volunteers with chronic periodontitis were enrolled and monitored clinically at baseline, and at 3 and 6 months after therapy. Clinical parameters measured included plaque index, bleeding on probing, pocket probing depths (PPD), and clinical attachment loss. Patients received non-surgical therapy including scaling and root planing (SRP), and were randomly assigned to a test (SRP + probiotic, n = 14) or control (SRP + placebo, n = 14) group. The administration of a sachet of Lactobacillus rhamnosus SP1 probiotic once a day for 3 months commenced after the last session of SRP. Results Both test and control groups showed improvements in clinical parameters at all time points evaluated. Furthermore, at initial visits and after 6 months follow-up, the test group showed a statistically significant reduction in percentage of sites, teeth, and number of participants with PPD ≥ 5 mm. Conclusions The results of this trial indicate that oral administration of L. rhamnosus SP1 sachets during initial therapy resulted in similar clinical improvements compared to SRP alone.
