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1.
J Neonatal Perinatal Med ; 17(1): 41-48, 2024.
Article in English | MEDLINE | ID: mdl-38277306

ABSTRACT

BACKGROUND: To investigate if maternal body mass index, diabetes and hypertension are associated with orofacial clefts. METHODS: Case-control study. Information from 53,188 live births with and without orofacial cleft registered at USA Vital Statistics Natality Birth Data between 2017 and 2021. Case group consisted of all affected live births diagnosed with orofacial clefts (13,297 cases). Comparison group consisted of 39,891 live births without clefts or any other congenital malformation. Information about orofacial cleft cases were compared with the comparison group. The unadjusted and adjusted Odds Ratios were estimated to evaluate the strength of association between mother's pre-pregnancy body mass index, maternal diabetes and hypertension and orofacial cleft occurrence, assuming a p value < 0.05 and 95% confidence intervals (95% C.I.) for statistically significant differences. RESULTS: Mother's pre-pregnancy body mass index, maternal diabetes and maternal hypertension are conditions associated with an increased risk of orofacial cleft development in the child (OR = 1.08, p = 0.004, 95% C.I. = 1.024-1.149; OR = 1.32, 95%, p = 0.000, 95% C.I. = 1.202-1.444; and OR = 1.35, p = 0.000, 95% C.I. = 1.239-1.484; respectively). Maternal ethnicity, sex of infant, and cigarette smoking pregnancy remained as covariates after adjustments in all logistic regression models. CONCLUSION: Due to the increased prevalence of obesity, diabetes, and hypertension, and also to their association with congenital malformations, such as clefts, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes or hypertension prior to conception and early in pregnancy.


Subject(s)
Cleft Lip , Cleft Palate , Diabetes, Gestational , Hypertension , Female , Pregnancy , Child , Humans , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Cleft Palate/complications , Case-Control Studies , Body Mass Index , Risk Factors , Diabetes, Gestational/epidemiology , Hypertension/epidemiology , Hypertension/complications
2.
J Agromedicine ; : 1-4, 2024 Jan 23.
Article in English | MEDLINE | ID: mdl-38263576

ABSTRACT

In July 2023, the Minnesota Department of Health (MDH) was notified of possible occupational exposures to anthrax during an outbreak in animals. In consultation with the Centers for Disease Control and Prevention, MDH epidemiologists created a questionnaire that assessed exposure risks and helped determine individual illness monitoring and antibiotic post-exposure prophylaxis needs. This investigation and the resources developed for it could be useful in future scenarios where there are occupational exposures to naturally occurring anthrax.

3.
J Dent Res ; 102(7): 707-708, 2023 07.
Article in English | MEDLINE | ID: mdl-37283047

ABSTRACT

The speech of the AADOCR President-Elect Alexandre R. Vieira given at the opening ceremony of the 52nd Annual Meeting and Exhibition in Portland, March 15, 2023.


Subject(s)
Awards and Prizes , Health Physics , Societies, Scientific
4.
J Dent Res ; 102(9): 979-987, 2023 08.
Article in English | MEDLINE | ID: mdl-37306019

ABSTRACT

Cleft lip and palate have a complex inheritance, and 90% of its variation in the population is due to genetic contributors. The impact of surgical procedures on maxillofacial growth is well known, but the interference of intrinsic factors in these growth outcomes is not elucidated. The present study aimed to analyze genetic polymorphisms and frequency of dental anomalies as predictors of maxillofacial growth in patients born with cleft lip with or without cleft palate. From a cohort of 537 individuals, operated on by the same surgeon, 121 were analyzed 2 times, to define changes in maxillary growth prognosis by occlusal scores in a minimum 4-y follow-up. In a second step, a subset of 360 individuals had maxillofacial growth outcomes evaluated using Wits, nasion perpendicular to point A, and occlusal scores. The markers MMP2 rs9923304, GLI2 rs3738880 and rs2279741, TGFA rs2166975, and FGFR2 rs11200014 and rs10736303 were genotyped, and frequency of dental anomalies and cleft severity were determined to define evidence of overrepresentation of alleles associated with maxillofacial growth outcomes. Age and age at primary surgical treatment, sex, and cleft laterality were variables adjusted in the analysis. We found an association between the frequency of dental anomalies and the maxillofacial growth in unilateral (P = 0.001) and bilateral (P = 0.03) individuals with clefts. MMP2 rs9923304 and maxillofacial growth were associated (P < 0.0001). There was also an association between GLI2 rs3738880 and TGFA rs2166975 and maxillary outcomes in individuals born with unilateral cleft lip and palate (P = 0.003 and P = 0.004, respectively), as well as between FGFR2 rs11200014 and maxillary outcomes regardless of cleft type (P = 0.005). Statistical evidence of an interaction between MMP2 rs9923304 and GLI2 rs3738880 was observed (P < 0.0001). Presence of dental anomalies and genetic variation in MMP2, GLI2, TGFA, and FGFR2 were associated with worse maxillofacial growth outcomes in individuals born with clefts.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Lip/genetics , Cleft Lip/surgery , Cleft Palate/genetics , Cleft Palate/surgery , Matrix Metalloproteinase 2 , Retrospective Studies , Polymorphism, Genetic
5.
Res Sq ; 2023 Jan 26.
Article in English | MEDLINE | ID: mdl-36747740

ABSTRACT

Apical periodontitis (AP) is a common consequence of root canal infection leading to periapical bone resorption. Microbial and host genetic factors, and their interactions, have been shown to play a role in AP development and progression. Variations in a few genes have been reported in association with AP, however, the lack of genome-wide studies has hindered progress in understanding the mechanisms involved in AP. Here, we report the first genome-wide association study of AP in a well-characterized population. Male and female adults (n=932) presenting with deep caries with AP (cases) or without AP (controls) were included. Genotyping was performed using the Illumina Expanded Multi-Ethnic Genotyping Array. Single-variant association testing was performed adjusting for sex and five principal components. Subphenotype association testing, analyses of genetically regulated gene expression, polygenic risk score and phenome-wide association (PheWAS) analyses were also performed. Eight loci reached near-genome-wide significant association with AP (p < 5 x 10-6); gene-focused analyses replicated three previously reported associations (p < 8.9 x 10-5). Sex-specific and subphenotype analyses revealed additional significant associations with variants genome-wide. Functionally oriented gene-based analyses revealed eight genes significantly associated with AP (p < 5 x 10-5), and PheWAS analysis revealed 33 phecodes associated with AP risk score (p < 3.08 x 10-5). This study identified novel genes/loci contributing to AP and revealed specific contributions to AP risk in males and females. Importantly, we identified additional systemic conditions significantly associated with AP risk. Our findings provide strong evidence for host-mediated effects on AP susceptibility.

7.
Sci Rep ; 12(1): 19967, 2022 11 19.
Article in English | MEDLINE | ID: mdl-36402889

ABSTRACT

To reduce the veterinary, public health, environmental, and economic burden associated with anthrax outbreaks, it is vital to identify the spatial distribution of areas suitable for Bacillus anthracis, the causative agent of the disease. Bayesian approaches have previously been applied to estimate uncertainty around detected areas of B. anthracis suitability. However, conventional simulation-based techniques are often computationally demanding. To solve this computational problem, we use Integrated Nested Laplace Approximation (INLA) which can adjust for spatially structured random effects, to predict the suitability of B. anthracis across Uganda. We apply a Generalized Additive Model (GAM) within the INLA Bayesian framework to quantify the relationships between B. anthracis occurrence and the environment. We consolidate a national database of wildlife, livestock, and human anthrax case records across Uganda built across multiple sectors bridging human and animal partners using a One Health approach. The INLA framework successfully identified known areas of species suitability in Uganda, as well as suggested unknown hotspots across Northern, Eastern, and Central Uganda, which have not been previously identified by other niche models. The major risk factors for B. anthracis suitability were proximity to water bodies (0-0.3 km), increasing soil calcium (between 10 and 25 cmolc/kg), and elevation of 140-190 m. The sensitivity of the final model against the withheld evaluation dataset was 90% (181 out of 202 = 89.6%; rounded up to 90%). The prediction maps generated using this model can guide future anthrax prevention and surveillance plans by the relevant stakeholders in Uganda.


Subject(s)
Anthrax , Bacillus anthracis , Humans , Animals , Anthrax/epidemiology , Anthrax/veterinary , Bayes Theorem , Uganda , Disease Outbreaks/veterinary
8.
Eur Arch Paediatr Dent ; 23(1): 193-198, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34392496

ABSTRACT

BACKGROUND: The term Molar-Incisor Hypomineralisation (MIH) was introduced in 2001 by Weerheijm, Jälevik and Alaluusua, and describes a defect of systemic origin that affects one to four first permanent molars, often associated with permanent incisors. In the past 20 years, this definition dictated the work regarding MIH prevalence, associated risk factors, association with dental caries, impact on quality of life, and therapeutic options. PURPOSE: In this report, we offer an updated and comprehensive view of MIH centred on the patient and the tooth. CONCLUSION: MIH today is globally recognized as a potential public health problem and it is not a defect of purely systemic origin but rather a condition with complex aetiology that in some instances may be the result of gene-environmental interactions.


Subject(s)
Dental Caries , Dental Enamel Hypoplasia , Dental Caries/complications , Dental Caries/etiology , Dental Enamel Hypoplasia/epidemiology , Dental Enamel Hypoplasia/etiology , Humans , Incisor , Molar , Prevalence , Quality of Life
9.
Eur Arch Paediatr Dent ; 22(6): 1101-1106, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34617267

ABSTRACT

PURPOSE: Pulp chamber enlargement impacts endodontic treatment planning. The aim of this study was to evaluate alterations in pulp chamber size of posterior teeth in individuals born with cleft lip with or without cleft palate. METHODS: Ninety individuals were treated at the Cleft Lip and Palate Service of the University Hospital Lauro Wanderley, Federal University of Paraíba, between the ages of 4 and 15 years born with cleft lip with or without cleft palate were selected. Ninety-nine patients from the archives of the residency program in Orthodontics of the Brazilian Dental Association (ABO) were paired by sex and age as a comparison group. Radiographs were evaluated by a single examiner, observing the presence/absence of an enlarged pulp chamber in the first and second permanent molars of all quadrants. Chi square or Fisher's exact tests were used (α = 0.05) in all comparisons. RESULTS: Pulp enlargement was more frequently found among individuals born with cleft lip with or without cleft palate (p = 0.0005). However, pulp enlargement frequency was different among subjects born with clefts (p = 0.0006). Pulp enlargement was more common in the maxilla, in both groups. Individuals born with cleft lip with or without cleft palate more often had six or more teeth affected (p = 0.02). Furthermore, individuals with a bilateral cleft more often had six or more teeth affected in comparison to unilateral cases (p = 0.002). CONCLUSION: Pulp enlargement is a frequent finding, particularly among individuals born with cleft lip with or without cleft palate, with a higher prevalence in the maxilla.


Subject(s)
Cleft Lip , Cleft Palate , Tooth Abnormalities , Adolescent , Brazil/epidemiology , Child , Child, Preschool , Cleft Lip/complications , Cleft Lip/diagnostic imaging , Cleft Palate/complications , Cleft Palate/diagnostic imaging , Cleft Palate/epidemiology , Humans
10.
Vaccine ; 39(42): 6245-6249, 2021 10 08.
Article in English | MEDLINE | ID: mdl-34538525

ABSTRACT

Anthrax is endemic in Ethiopia with sporadic outbreaks despite the regular vaccination of domestic livestock. This has raised concerns on the effectiveness of the vaccination strategy which may be associated with breaches in the vaccine cold chain maintenance. This study was aimed at demonstrating the tolerance of anthrax vaccine to cold chain breaches through evaluation of viable spore counts expressed as colony forming units per mL (CFU/mL) of freeze-dried and suspension anthrax vaccines stored at 5 °C, 20 °C and 37 °C for up to 6 months. Both vaccine formulations maintained above the recommended minimum required titre (2 × 106 culturable spores per dose for cattle, buffaloes and horses, and not <1 × 106 for sheep and goats) for up to 6 months at 5 °C storage. In storage at 20 °C, the viability of freeze-dried anthrax vaccine maintained the minimum required titre up to 6 months while up to 90 days in case of the suspension formulation. Both types of vaccine formulations maintained the minimum titre per dose for up to 30 days at 37 °C storage. Generally, both vaccine formulations showed similar trends in titre fall in all of the three storage temperatures (5 °C, 20 °C and 37 °C) as observed in the almost linearly overlapping 95% confidence intervals (CI) up to day 90 at 5 °C and 20 °C storages while up to day 30 at 37 °C storage. However, a significant (P < 0.05) drop in titre was observed after day 90 for storages at 5 °C and 20 °C, and after day 30 for 37 °C storage as observed in the non overlapping 95% CI from the average titres of previous time points. This study showed that if temperature excursion occurs above the recommended temperature range (4-8 °C) during storage or transport, the vaccine should remain effective and can still be used in vaccination programs.


Subject(s)
Anthrax , Vaccines , Animals , Anthrax/prevention & control , Anthrax/veterinary , Buffaloes , Cattle , Freeze Drying , Horses , Sheep , Temperature
11.
J Appl Microbiol ; 130(4): 1323-1336, 2021 Apr.
Article in English | MEDLINE | ID: mdl-32808408

ABSTRACT

AIMS: This study evaluated whether by-products from industrial processing of acerola (Malpighia glabra L.; AB) and guava (Psidium guajava L.; GB) fruit may stimulate the growth and metabolism of probiotic Lactobacillus and Bifidobacterium and induce changes in human colonic microbiota. METHODS AND RESULTS: The ability of non-digested and digested AB or GB to stimulate the growth ad metabolism of Lactobacillus acidophilus LA-05, Lactobacillus casei L-26 and Bifidobacterium animalis subsp. lactis BB-12 was evaluated. Changes in populations of distinct bacterial groups of human colonic microbiota induced by digested AB and GB were evaluated using an in vitro colonic fermentation system. Non-digested and digested AB and GB favoured probiotic growth. No difference among counts of probiotics in media with glucose, fructooligosaccharides and non-digested and digested AB and GB was found during a 48-h cultivation. Cultivation of probiotics in media with non-digested and digested AB and GB resulted in decreased pH, increased organic acid production and sugar consumption over time. Digested AB and GB caused overall beneficial changes in abundance of Bifidobacterium spp., Lactobacillus-Enterococcus, Eubacterium rectall-Clostridium coccoides and Bacteroides-Provotella populations, besides to decrease the pH and increase the short-chain fatty acid production during a 24-h in vitro colonic fermentation. CONCLUSION: AB and GB could be novel prebiotic ingredients because they can stimulate the growth and metabolism of probiotics and induce overall beneficial changes in human colonic microbiota. SIGNIFICANCE AND IMPACT OF THE STUDY: AB and GB stimulated the growth and metabolism of probiotics, in addition to induce beneficial alterations in human colonic microbiota composition and increase short-chain fatty acid production. These results characterize AB and GB as potential prebiotic ingredients and fruit processing by-products as sources of added-value compounds.


Subject(s)
Bifidobacterium animalis/growth & development , Colon/microbiology , Lactobacillus/growth & development , Malpighiaceae/metabolism , Prebiotics/analysis , Probiotics/analysis , Psidium/metabolism , Waste Products/analysis , Bifidobacterium animalis/metabolism , Clostridiales , Fatty Acids, Volatile/metabolism , Fermentation , Fruit/chemistry , Fruit/metabolism , Gastrointestinal Microbiome , Humans , Lactobacillus/metabolism , Lactobacillus acidophilus/growth & development , Malpighiaceae/chemistry , Oligosaccharides/analysis , Oligosaccharides/metabolism , Probiotics/metabolism , Psidium/chemistry
12.
Dis Aquat Organ ; 141: 47-52, 2020 Sep 17.
Article in English | MEDLINE | ID: mdl-32940250

ABSTRACT

Reproduction of Trachurus picturatus off the western Portuguese coast was studied over 1 yr. During histological analyses, the presence of Kudoa sp. was detected in advanced vitellogenic oocytes. Kudoa infections are known to cause economic loss through the induction of post-mortem liquefaction of fish muscles, but ovarian infection as reported in this study will seriously affect the reproductive potential of the species and thus impact fisheries productivity. Only females showed gonad infection which led to total degradation of advanced vitellogenic oocytes. No macroscopic, somatic or condition indices revealed differences between infected and uninfected females, rendering this infection event a concealed suppression of reproduction.


Subject(s)
Fish Diseases , Infections/veterinary , Myxozoa , Perciformes , Animals , Female , Ovary , Parasitic Diseases, Animal
13.
JDR Clin Trans Res ; 5(1): 10-12, 2020 01.
Article in English | MEDLINE | ID: mdl-31026182

ABSTRACT

KNOWLEDGE TRANSFER STATEMENT: Dental research can be thought of as a continuum of clinical observations that are dissected in the laboratory with answers that can be brought back to the clinic to change patient management. We believe this is the case for the use of adhesive systems and outcomes of dental treatment. Clinical observations related to negative outcomes have been tested in the laboratory and solutions have been proposed, with more precise implementation of these solutions possible when genomic approaches are added. Here we elaborate on this process based on the observations that lead to an attempt to inactivate metalloproteinase activity by dentin crosslinking.


Subject(s)
Dental Caries , Dentin , Humans
14.
Arch Oral Biol ; 109: 104592, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31706108

ABSTRACT

OBJECTIVE: The aim of this study was to quantify the heritability of periodontitis via a systematic appraisal of the existing evidence derived from animal studies. DESIGN: A search was conducted through the electronic databases MEDLINE, Embase, LILACS, Cochrane Library, Open Grey, Google Scholar and ResearchGate, complemented by a hand search, for studies reporting measures of heritability of periodontitis. After full-text reading, 7 studies conducted on animal models met the inclusion criteria. Six studies carried out experimental periodontitis models in mice, while one study assessed bone loss in dry skulls of baboons with known pedigrees. RESULTS: Heritability of 'naturally-occurring bone loss' (3 studies, non-experimental conditions) was estimated at 0.39 (95% confidence interval: 0.13-0.64) with virtually no heterogeneity (I2 = 0%, p = 0.97). Heritability of experimental periodontitis in mice (6 studies) was 0.43 (0.28-0.58) with considerable heterogeneity (I2 = 96%, p < 0.01). There was no evidence of publication bias. CONCLUSIONS: Over a third of the phenotypic variance of periodontitis in animal studies is due to genetic factors, somewhat higher than the estimate from human studies. It can be argued that, under the strictly-controlled experimental conditions of laboratory-induced periodontitis, the relative role of heritable factors predisposing to periodontitis and bone loss may be stronger compared with human studies.


Subject(s)
Periodontitis/genetics , Alveolar Bone Loss/genetics , Animals , Humans , Mice , Papio
15.
Rev Sci Tech ; 38(1): 51-60, 2019 May.
Article in English | MEDLINE | ID: mdl-31564741

ABSTRACT

Zoonotic diseases require a One Health approach for successful control and elimination due to the nature of their transmission between animals and humans. One Health recognises that the health of humans, animals, and the environment are all interconnected. Ethiopia has committed itself to controlling five prioritised zoonotic diseases (rabies, anthrax, brucellosis, leptospirosis and echinococcosis), using a One Health approach. The National One Health Steering Committee (NOHSC) provides a framework for national stakeholders to address gaps in multisectoral communication, coordination and collaboration. In addition, the NOHSC oversees the formation of several specialised disease-focused groups, referred to as 'Technical Working Groups' (TWGs). These TWGs are responsible for developing disease prevention and control strategies, as well as implementing disease-focused public health activities and providing recommendations to the NOHSC. Ethiopia's success using the One Health approach and its efficient control of zoonotic diseases will depend on the commitment of all member Ministries to support the NOHSC and TWGs, as well as to build capacity in Ethiopia's workforce and laboratories, a task supported by its many international partners.


Les zoonoses étant par nature des maladies transmissibles entre les animaux et l'homme, l'approche Une seule santé est la seule qui permette de les contrôler efficacement en vue de les éliminer. Le concept Une seule santé repose sur la prise en compte de l'interconnexion entre la santé humaine, celle des animaux et celle de l'environnement. L'Éthiopie s'est fixé pour objectif de lutter contre cinq maladies zoonotiques classées comme prioritaires (rage, fièvre charbonneuse, brucellose, leptospirose et échinococcose) en suivant une approche Une seule santé. Le comité de pilotage national Une seule santé (NOHSC) apporte un cadre permettant aux parties prenantes du pays de résoudre les problèmes de communication, de coordination et de collaboration intersectorielles. En outre, le NOHSC supervise la création de plusieurs groupes de travail techniques dédiés à des maladies spécifiques. Ces groupes de travail sont chargés d'élaborer des stratégies de prévention et de contrôle, de mettre en oeuvre des activités de santé publique axées sur ces maladies et de formuler des recommandations à l'intention du NOHSC. La réussite des efforts déployés par l'Éthiopie pour appliquer les principes Une seule santé et l'efficacité de la lutte contre les maladies zoonotiques dépendront de l'engagement des ministères concernés à soutenir le NOHSC et les groupes de travail techniques et à renforcer les capacités des ressources humaines et des laboratoires éthiopiens, tâche qui bénéficie de l'appui de nombreux partenaires internationaux.


Toda labor eficaz de control y eliminación de las enfermedades zoonóticas, por la propia naturaleza de su transmisión entre animales y personas, pasa por abordar estas patologías desde los planteamientos de Una sola salud, noción esta que parte del reconocimiento de que salud humana, animal y ambiental están siempre interconectadas. Etiopía está embarcada en el innegociable empeño de combatir cinco enfermedades zoonóticas consideradas prioritarias (rabia, carbunco bacteridiano, brucelosis, leptospirosis y equinococosis) trabajando desde la óptica de Una sola salud. El Comité Directivo Nacional de Una sola salud proporciona a los interlocutores del país un marco de referencia que sirve para subsanar las lagunas existentes en cuanto a comunicación, coordinación y colaboración entre los diversos sectores. Ese órgano, además, supervisa la formación de varios grupos especializados y centrados en una u otra enfermedad, denominados grupos de trabajo técnicos, que tienen por cometido elaborar estrategias de prevención y control de una enfermedad concreta, llevar adelante acciones de salud pública dirigidas contra ella y formular recomendaciones para el Comité Directivo. El éxito de Etiopía a la hora de aplicar los postulados de Una sola salud y de combatir eficazmente las enfermedades zoonóticas dependerá del nivel de compromiso con que todos los ministerios copartícipes presten apoyo al Comité Directivo y los grupos de trabajo técnicos y ayuden a instaurar en el país un tejido lo bastante solvente de laboratorios y recursos humanos, empresa esta en la que Etiopía cuenta con el respaldo de sus numerosos asociados internacionales.


Subject(s)
One Health , Public Health , Animals , Ethiopia , Humans , One Health/trends , Public Health/trends , Zoonoses/prevention & control
16.
J Dent Res ; 98(6): 632-641, 2019 06.
Article in English | MEDLINE | ID: mdl-31107142

ABSTRACT

The aim of this study was to systematically appraise the existing literature on the yet-unclear heritability of gingivitis and periodontitis. This review was conducted following the PRISMA guidelines. A search was conducted through the electronic databases Medline, Embase, LILACS, Cochrane Library, Open Grey, Google Scholar, and Research Gate, as complemented by a hand search, for human studies reporting measures of heritability of gingivitis and periodontitis. A total of 9,037 papers were initially identified from combined databases and 10,810 on Google Scholar. After full-text reading, 28 articles met the inclusion criteria and were carried forward to data abstraction. The reviewed data included information from >50,000 human subjects. Meta-analyses were performed by grouping studies based on design and outcome. Heritability ( H2) of periodontitis was estimated at 0.38 (95% CI, 0.34 to 0.43; I2 = 12.9%) in twin studies, 0.15 (95% CI, 0.06 to 0.24; I2 = 0%) in other family studies, and 0.29 (95% CI, 0.21 to 0.38; I2 = 61.2%) when twin and other family studies were combined. Genome-wide association studies detected a lower heritability estimate of 0.07 (95% CI, -0.02 to 0.15) for combined definitions of periodontitis, increasing with disease severity and when the interaction with smoking was included. Furthermore, heritability tended to be lower among older age groups. Heritability for the self-reported gingivitis trait was estimated at 0.29 (95% CI, 0.22 to 0.36; I2 = 37.6%), while it was not statistically significant for clinically measured gingivitis. This systematic review brings forward summary evidence to confirm that up to a third of the periodontitis variance in the population is due to genetic factors. This seems consistent across the different studied populations and increases with disease severity. In summary, up to a third of the variance of periodontitis in the population is due to genetic factors, with higher heritability for more severe disease.


Subject(s)
Genetic Predisposition to Disease , Gingivitis/genetics , Periodontitis/genetics , Genome-Wide Association Study , Humans
18.
J Dent Res ; 98(5): 541-548, 2019 05.
Article in English | MEDLINE | ID: mdl-30779877

ABSTRACT

Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it is important that the full range of genes and mutations that cause AI be determined. Defects in WDR72 (WD repeat-containing protein 72; OMIM *613214) cause AI, type IIA3 (OMIM #613211), which follows an autosomal recessive pattern of inheritance. The defective enamel is normal in thickness, severely hypomineralized, orange-brown stained, and susceptible to attrition. We identified 6 families with biallelic WDR72 mutations by whole exome sequence analyses that perfectly segregated with the enamel phenotype. The novel mutations included 3 stop-gains [NM_182758.2: c.377G>A/p.(Trp126*), c.1801C>T/p.(Arg601*), c.2350A>T/p.(Arg784*)], a missense mutation [c.1265G>T/p.(Gly422Val)], and a 62,138-base pair deletion (NG_017034.2: g.35441_97578del62138) that removed WDR72 coding exons 3 through 13. A previously reported WDR72 frameshift was also observed [c.1467_1468delAT/p.(Val491Aspfs*8)]. Three of the affected patients showed decreased serum pH, consistent with a diagnosis of renal tubular acidosis. Percentiles of stature and body weight varied among 8 affected individuals but did not show a consistent trend. These studies support that WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects.


Subject(s)
Acidosis , Amelogenesis Imperfecta , Proteins/immunology , Acidosis/genetics , Amelogenesis Imperfecta/genetics , Humans , Mutation , Pedigree
19.
Ann Oncol ; 30(4): 528-541, 2019 04 01.
Article in English | MEDLINE | ID: mdl-30753270

ABSTRACT

BACKGROUND: To summarise the evidence on the associations between body mass index (BMI) and BMI in early adulthood, height, waist circumference (WC) and waist-to-hip ratio (WHR), and risk of lympho-haematopoietic cancers. METHOD: We conducted a meta-analysis of prospective studies and identified relevant studies published up to December 2017 by searching PubMed. A random-effects model was used to calculate dose-response summary relative risks (RRs). RESULTS: Our findings showed BMI, and BMI in early adulthood (aged 18-21 years) is associated with the risk of Hodgkin's and non-Hodgkin's lymphoma (HL and NHL), diffuse large beta-cell lymphoma (DLBCL), Leukaemia including acute and chronic myeloid lymphoma (AML and CML), and chronic lymphocytic leukaemia (CLL) and multiple myeloma (MM). The summary RR per 5 kg/m2 increase in BMI were 1.12 [95% confidence interval (CI): 1.05-1.20] for HL, 1.05 (95% CI: 1.03-1.08) for NHL, 1.11 (95% CI: 1.05-1.16) for DLBCL, 1.06 (95% CI: 1.03-1.09) for ML, 1.09 (95% CI: 1.03-1.15) for leukaemia, 1.13 (95% CI: 1.04-1.24) for AML, 1.13 (95% CI: 1.05-1.22) for CML and 1.04 (95% CI: 1.00-1.09) for CLL, and were1.12 (95% CI: 1.05-1.19) for NHL, 1.22 (95% CI: 1.09-1.37) for DLBCL, and 1.19 (95% CI: 1.03-1.38) for FL for BMI in early adulthood analysis. Results on mortality showed a 15%, 16% and 17% increased risk of NHL, MM and leukaemia, respectively. Greater height increased the risk of NHL by 7%, DLBCL by 10%, FL by 9%, MM by 5% and Leukaemia by 7%. WHR was associated with increased risk of DLBCL by 12%. No association was found between higher WC and risk of MM. CONCLUSION: Our results revealed that general adiposity in adulthood and early adulthood, and greater height may increase the risk of almost all types of lympho-haematopoietic cancers and this adds to a growing body of evidence linking body fatness to several types of cancers.


Subject(s)
Body Size , Leukemia/epidemiology , Lymphoma/epidemiology , Multiple Myeloma/epidemiology , Obesity/epidemiology , Adiposity , Body Mass Index , Humans , Risk Assessment , Risk Factors
20.
Clin Oral Investig ; 23(9): 3565-3570, 2019 Sep.
Article in English | MEDLINE | ID: mdl-30539292

ABSTRACT

OBJECTIVES: The aim of this study was investigate the association between genetic polymorphisms in ESR1, ESR2, and ESRRB and dental fluorosis (DF) in a well-characterized sample of children from Curitiba, Brazil. MATERIAL AND METHODS: From a representative sample of 538 children, 12-year-old were evaluated. DF was assessed in erupted permanent teeth by the Dean's index modified. Fourteen polymorphisms were selected in intronic and intergenic regions of ESR1, ESR2, and ESRRB and genotyped in genomic DNA source from saliva using TaqMan chemistry and end-point analysis. Allele and genotype distributions between DF and DF free groups were analyzed using the Epi Info 7.2. Chi-square or Fisher's exact tests at a level of significance of 5% and odds ratios calculations with 95% confidence intervals were used to determine the statistical associations. RESULTS: Among 538 children, 147 were DF and 391 were DF free. Genotype distribution for the polymorphism rs12154178 in ESR1 was different between the two groups (p = 0.037; OR = 0.91; CI = 0.67-1.22). The dominant model analysis (AA+AC vs. CC) demonstrated that CC is a protective factor for DF (p = 0.038; OR = 0.51, 0.27-0.97 95% CI). We did not find differences in frequency distributions in the other evaluated polymorphisms. CONCLUSION: This study provides evidence that ESR1 is associated with DF. CLINICAL RELEVANCE: Dental fluorosis is an important condition that affects the mineralized tissues of the teeth. In severe cases, the treatment takes time and is extremely costly. This research provides evidences that there are genetic factors involved in dental fluorosis and will help professionals to plan more precise strategies to reduce dental fluorosis occurrence.


Subject(s)
Estrogen Receptor alpha/genetics , Estrogen Receptor beta/genetics , Fluorosis, Dental , Receptors, Estrogen , Alleles , Brazil , Child , Fluorosis, Dental/genetics , Genotype , Humans , Receptors, Estrogen/genetics
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