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1.
Oral Dis ; 2024 Apr 02.
Article in English | MEDLINE | ID: mdl-38566363

ABSTRACT

OBJECTIVES: Root resorption in permanent teeth is a common pathological process that often follows dental trauma or orthodontic treatment. More rarely, root resorption is a feature of genetic disorders and can help with diagnosis. Thus, the present review aims to determine which genetic disorders could induce pathological root resorptions and thus which mutated genes could be associated with them. METHODS: We conducted a systematic review following the PRISMA guidelines. Articles describing root resorptions in patients with genetic disorders were included from PubMed, Embase, Web of Science, and Google Scholar. We synthesized the genetic disorder, the type, severity, and extent of the resorptions, as well as the other systemic and oral symptoms and histological features. RESULTS: The synthetic analysis included 25 studies among 937 identified records. We analyzed 21 case reports, three case series, and one cohort study. Overall, we highlighted 14 different pathologies with described root resorptions. Depending on the pathology, the sites of resorption, their extent, and their severity showed differences. CONCLUSION: With 14 genetic pathologies suspected to induce root resorptions, our findings are significant and enrich a previous classification. Among them, three metabolic disorders, three calcium-phosphorus metabolism disorders, and osteolysis disorders were identified.

2.
Clin Oral Investig ; 28(3): 169, 2024 Feb 24.
Article in English | MEDLINE | ID: mdl-38396299

ABSTRACT

OBJECTIVE: Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. MATERIAL AND METHODS: A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research. OHRQoL was assessed using the short form of the Child Perceptions Questionnaire (CPQ) for eight to ten-year-olds (CPQ8-10) and 11 to 14-year-olds (CPQ11-14). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion, and dental agenesis were evaluated. RESULTS: The median CPQ score of patients was 5, and there was no significant difference in OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients' OHRQoL. CONCLUSIONS: The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted. CLINICAL RELEVANCE: this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population.


Subject(s)
Dental Caries , Malocclusion, Angle Class III , Osteogenesis Imperfecta , Child , Humans , Adolescent , Oral Health , Osteogenesis Imperfecta/complications , Quality of Life/psychology , Cross-Sectional Studies , Surveys and Questionnaires , Dental Caries/epidemiology
3.
Metabolomics ; 19(9): 76, 2023 08 27.
Article in English | MEDLINE | ID: mdl-37634175

ABSTRACT

INTRODUCTION: Despite the rise of metabolomics over the past years, and particularly salivary metabolomics, little research on Sjögren's syndrome (SS) biomarkers has focused on the salivary metabolome. OBJECTIVES: This study aims to identify metabolites that could be used as biomarkers for SS. METHODS: Using the software called XCMS online, the salivary metabolic profiles obtained with liquid chromatography coupled to high-resolution mass spectrometry for 18 female SS patients were compared to those obtained for 22 age-matched female healthy controls. RESULTS AND CONCLUSION: A total of 91 metabolites showed differential expression in SS patients. A putative identification was proposed with the use of a database for 37 of these metabolites and, of these, 16 identifications were confirmed. Given the identified metabolites, some important metabolic pathways, such as amino acid metabolism, purine metabolism, or even the citric acid cycle seem to be affected. Through the analyses of the ROC (receiver operating characteristic) curves, three metabolites, namely alanine, isovaleric acid, and succinic acid, showed both good sensitivity (respectively 1.000, 1.000, and 0.750) and specificity (respectively 0.692, 0.615, and 0.692) for identifying SS and could then be interesting biomarkers for a potential salivary diagnosis test.


Subject(s)
Metabolomics , Sjogren's Syndrome , Humans , Female , Sjogren's Syndrome/diagnosis , Metabolome , Biomarkers , Chromatography, Liquid
4.
Calcif Tissue Int ; 110(3): 303-312, 2022 03.
Article in English | MEDLINE | ID: mdl-34677656

ABSTRACT

Patients with Osteogenesis Imperfecta (OI) present extra-skeletal manifestations, including important orodental and craniofacial features as dentinogenesis imperfecta, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles. These features may compromise vital functions speech and mastication. Studies have demonstrated that cyclic pamidronate infusion, the standard therapy for patients with moderate to severe OI, influences the histomorphometric pattern of different body bones. The present study aimed to investigate the condyle trabecular bone pattern in OI patients. We used fractal dimension (FD) analysis on dental panoramic radiographic images to characterize the mandibular condyle trabecular bone in adolescents diagnosed with OI and treated with pamidronate. Imaging exam of 33 adolescents of both sexes, aged between 12 and 17 years, were analyzed and compared with 99 age- and sex-matched healthy adolescents. FD in patients was significantly lower (1.23 ± 0.15) than in healthy controls (1.29 ± 0.11; p < 0.01). Type of OI, age at treatment onset, and the duration of therapy were variables that showed a statistically significant effect on the FD results. This study demonstrated that the bone architecture of mandibular condyles may be altered in pediatric patients with moderate and severe forms of OI. Also, pamidronate treatment seems to have a positive effect on condyle trabecular bone in these patients. This is supported by our finding that FD values were positively influenced by the length of cyclic pamidronate treatment at the time of imaging, as well as by the age of the individual at treatment onset.


Subject(s)
Osteogenesis Imperfecta , Adolescent , Bone Density , Cancellous Bone , Child , Diphosphonates/therapeutic use , Female , Humans , Male , Mandibular Condyle , Osteogenesis Imperfecta/drug therapy , Pamidronate
5.
Anal Bioanal Chem ; 414(23): 6899-6909, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35931784

ABSTRACT

Advances in metabolomics have allowed the identification and characterization of saliva metabolites that can be used as biomarkers. However, discrepancies can be noted with the content of the same biomarker being increased or decreased for a given disease. Differences in the way saliva is collected, stored, and/or treated could cause these discrepancies. Indeed, there is no standardized method for saliva sampling and analysis. In this work, two chromatographic modes were used, i.e., RP-LC and HILIC both coupled to MS used in positive and negative ionization modes. The analytical conditions were optimized with a mixture of 90 compounds naturally present in saliva, representative of the wide range of molecular mass and polarity of salivary metabolites and being described as having a differential expression in various pathologies. These four methods were applied to the analysis of saliva samples collected by spitting, aspiration, or Salivette® with or without prior rinsing of the mouth. Rinsing had an effect on some metabolite concentrations. As it can induce an additional parameter of variability to the sampling, it seems therefore preferable to use methods without rinsing while effects of these parameters on the metabolites are investigated. Saliva obtained by spitting and aspiration gave statistically equivalent results for 84% of the metabolites studied. Conversely, Salivette® gave different results since the majority of the metabolites chosen for the study were not quantified in the samples. The Salivette® does not seem therefore to be a suitable sampling method for an untargeted analysis of the salivary metabolome, unlike aspiration and spitting.


Subject(s)
Metabolome , Metabolomics , Biomarkers/analysis , Chromatography, Liquid/methods , Metabolomics/methods , Saliva/chemistry , Specimen Handling
6.
Oral Dis ; 27(4): 881-893, 2021 May.
Article in English | MEDLINE | ID: mdl-32335995

ABSTRACT

OBJECTIVE: The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF). METHODS: A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key terms relevant to the research questions and supplemented by a gray literature search. The Methodological Quality and Synthesis of Case Series and Case Reports in association with the Case Series and Prevalence Studies from the Joanna Briggs Institute critical appraisal tools were used for the risk of bias. We followed the PRISMA checklist guidelines. RESULTS: Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laband syndrome with 24 individuals in 15 studies and Costello syndrome, which was presented in a case series study with 41 individuals. Among reported cases, other clinical manifestations such as hypertrichosis, ectopic gingival calcification, and cherubism were described. CONCLUSIONS: The results emphasize the need of systematic oro-dental-facial phenotyping for future descriptions as well as further molecular analysis in order to better understand the occurrence of syndromic GF.


Subject(s)
Abnormalities, Multiple , Craniofacial Abnormalities , Fibromatosis, Gingival , Hand Deformities, Congenital , Fibromatosis, Gingival/genetics , Humans , Syndrome
7.
Phytother Res ; 35(3): 1646-1657, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33155722

ABSTRACT

Recently, several countries authorized the use of cannabis flowering tops (dried inflorescences) with a standardized amount of Δ9-tetrahydrocannabinol (THC), cannabidiol (CBD) and their acidic precursors [Δ-9-tetrahydrocannabinolic acid A (THCA-A) and cannabidiolic acid (CBDA)] to treat neurogenic pain. We studied the acute pharmacological effects and disposition of cannabinoids and their metabolites in serum, oral fluid, sweat patch and urine of 13 healthy individuals treated with medical cannabis decoction and oil. Cannabinoids and their metabolites were quantified by ultrahigh performance tandem mass spectrometry. Even if the oil contained a significantly higher amount of THC, the absorption of THC and its metabolites were similar in both herbal preparations. Conversely, whereas oil contained a significantly higher amount of CBD and a lower amount of CBDA, absorption was significantly higher after decoction intake. Only cannabinoids present in both herbal preparations (THC, CBD, THCA-A and CBDA) were found in oral fluid, due to the higher acidity compared with that of serum. THC metabolites urinary excretion was always higher after decoction administration. Decoction induced greater feeling of hunger and drowsiness than oil preparation. Pharmacokinetics of cannabinoids, their precursors and their metabolites in biological fluids of individuals treated with cannabis decoction and oil showed a high interindividual variability. The aqueous preparation was generally better absorbed than the oil, even if it contained a minor amount of THC, THCA-A and CBD.


Subject(s)
Cannabinoids/therapeutic use , Cannabis/chemistry , Medical Marijuana , Pharmaceutical Preparations/chemistry , Sweat/chemistry , Adult , Cannabinoids/pharmacology , Female , Humans , Male , Medical Marijuana/blood , Medical Marijuana/pharmacology , Medical Marijuana/therapeutic use , Medical Marijuana/urine , Plant Extracts/blood , Plant Extracts/pharmacology , Plant Extracts/therapeutic use , Plant Extracts/urine , Young Adult
8.
Pediatr Diabetes ; 21(5): 791-799, 2020 08.
Article in English | MEDLINE | ID: mdl-32181961

ABSTRACT

OBJECTIVE: To compare the duration (hours until HCO3- ≥ 15 mmol/L) of diabetic ketoacidosis (DKA) episodes that are the first manifestation of new type 1 diabetes (NT1D) and those that are a complication in patients with previously diagnosed type 1 diabetes (PT1D). METHODS: A multicenter retrospective cohort study was designed. The duration of DKA was measured from the start of the treatment. The primary outcome was the comparison of the time needed in each group to reach HCO3- ≥ 15 mmol/L. The secondary outcomes were the comparison of the time to reach pH ≥ 7.3 and length of hospital stay in each group. Data were analyzed with a bivariate analysis of the variables vs primary outcome. Then, a regression model was analyzed. Results There were 305 episodes included (NT1D: 115, PT1D: 190). DKA in the NT1D group lasted longer (NT1D 20 (16-19) vs PT1D 12 (8-16), hours, P < .01) with a significant difference in each level of DKA severity. This group also took longer to reach pH ≥ 7.3 (NT1D 16 (12-22) vs PT1D 9 (6-12), hours, P < .01) and had a longer hospital stay (NT1D 9 (6-12) vs PT1D 7 (4-10), hours, P < .01). CONCLUSION: The duration of DKA is longer in patients with NT1D regardless of characteristics like DKA severity, duration of symptoms, and type of treatments received.


Subject(s)
Diabetes Mellitus, Type 1 , Diabetic Ketoacidosis/epidemiology , Diabetic Ketoacidosis/pathology , Age of Onset , Child , Cohort Studies , Colombia/epidemiology , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/therapy , Diabetic Ketoacidosis/therapy , Disease Progression , Female , Humans , Length of Stay/statistics & numerical data , Male , Retrospective Studies , Severity of Illness Index , Time Factors
9.
Int J Clin Oncol ; 25(6): 1016-1036, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32221803

ABSTRACT

Novel adjunctive screening aids are needed to reduce the morbidity and mortality related to cancer, and every effort should be made for early diagnosis. This systematic review aimed to evaluate salivary metabolites and their diagnostic value in patients with cancer.The systematic review was performed in two phases and included studies that focused on the diagnostic value of salivary metabolites in humans with solid malignant neoplasms. Five electronic databases were searched, and the risk of bias in individual studies was evaluated using the revised Quality Assessment of Diagnostic Accuracy Studies criteria (QUADAS-2). All procedures were performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.Of the 1151 studies retrieved, 25 were included; 13 studies used targeted and 12 untargeted metabolomics approaches. Most studies included patients with breast and oral cancer. Except for one, all studies had case-control designs, and none fulfilled all quality assessments. Overall, 140 salivary metabolites were described. The most frequently reported metabolites were alanine, valine, and leucine. Among the 11 studies that reported diagnostic test accuracy (DTA) values, proline, threonine, and histidine in combination and monoacylglycerol alone demonstrated the highest DTA for breast cancer. Combined choline, betaine, pipecolinic acid, and L-carnitine showed better discriminatory performance for early oral cancer.This systematic review highlights the current evidence on salivary metabolites that may be used as a future strategy to diagnose cancer. Further studies including larger sample sizes with confirmation of the results by untargeted analysis are warranted.


Subject(s)
Neoplasms/diagnosis , Saliva/metabolism , Biomarkers, Tumor/metabolism , Databases, Factual , Humans , Metabolomics , Neoplasms/metabolism
10.
Clin Oral Investig ; 24(10): 3501-3511, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32025882

ABSTRACT

OBJECTIVE: The aim of this longitudinal study was to characterize the dento-osseous phenotype of eleven familial adenomatous polyposis (FAP) patients and twenty-two family members from four Brazilian families who were followed over nine years and to investigate adenomatous polyposis coli (APC) gene variants using a targeted next-generation sequencing approach. MATERIALS AND METHODS: Medical and dental history, oral examination, and panoramic radiography were performed to diagnose and follow up the dento-osseous anomalies. The anomalies were evaluated following the validated diagnostic tool dental panoramic radiographic score (DPRS), a system developed for high-risk FAP patients. Patients diagnosed with dento-osseous anomalies underwent cone-beam computed tomography. For genetic analysis, DNA was isolated from patients' saliva. RESULTS: Dento-osseous anomalies were identified in ten of the eleven FAP patients by panoramic radiograph evaluation. DPRS ≥ 7 (significant changes) was found in 81.8% (9/11) of FAP patients. The follow-up showed an increase in osseous jaw lesions in two young patients during adolescence. Dento-osseous anomalies were not found in non-FAP patients. A novel heterozygous nonsense pathogenic variant in APC exon 5 (c.481C > T; p.Gln161*) was identified in family 2, and a heterozygous splice-site pathogenic variant was identified in family 1 (c.532-1G > A). CONCLUSION: Our study expands the mutation spectrum of the APC gene and provides evidence that dento-osseous screening by imaging is a putative tool for early diagnosis of FAP. Also, the detection of dento-osseous anomalies in young patients with increasing osseous lesions during adolescence highlights the need for dental follow-up of high-risk FAP children. CLINICAL RELEVANCE: Dental radiographs are important for the screening and the follow-up of dento-osseous anomalies associated with FAP. It can also contribute to the early diagnosis of the disease.


Subject(s)
Adenomatous Polyposis Coli , Brazil , Follow-Up Studies , Humans , Longitudinal Studies , Radiography, Panoramic
11.
Int J Mol Sci ; 21(6)2020 Mar 23.
Article in English | MEDLINE | ID: mdl-32209985

ABSTRACT

The purpose of the present study was to assess the early stages of development of mouse first molar roots in the osteopetrotic context of RANKL invalidation in order to demonstrate that the radicular phenotype observed resulted not only from defective osteoclasts, but also from loss of cell-to-cell communication among dental, periodontium and alveolar bone cells involving RANKL signaling. Two experimental models were used in this study: Rankl mutants with permanent RANKL invalidation, and C57BL/6J mice injected during the first postnatal week with a RANKL neutralizing antibody corresponding to a transient RANKL invalidation. The dento-alveolar complex was systematically analyzed using micro-CT, and histological and immunohistochemical approaches. These experiments showed that the root elongation alterations observed in the Rankl-/- mice were associated with reduced proliferation of the RANK-expressing HERS cells with a significant decrease in proliferating cell nuclear antigen (PCNA) expression and a significant increase in P21 expression. The phenotypic comparison of the adult first molar root at 35 days between permanent and transitory invalidations of RANKL made it possible to demonstrate that alterations in dental root development have at least two origins, one intrinsic and linked to proliferation/differentiation perturbations in dental-root-forming cells, the other extrinsic and corresponding to disturbances of bone cell differentiation/function.


Subject(s)
Homozygote , Mutation , Odontogenesis/genetics , RANK Ligand/genetics , Tooth Root/growth & development , Tooth Root/metabolism , Animals , Biomarkers , Gene Expression , Genotype , Immunohistochemistry , Mice , Phenotype , Tooth Root/diagnostic imaging
12.
Medicina (Kaunas) ; 56(6)2020 Jun 23.
Article in English | MEDLINE | ID: mdl-32585912

ABSTRACT

BACKGROUND AND OBJECTIVE: Changes in cannabis legalization regimes in several countries have influenced the diversification of cannabis use. There is an ever-increasing number of cannabis forms available, which are gaining popularity for both recreational and therapeutic use. From a therapeutic perspective, oral cannabis containing Δ-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) is a promising route of administration but there is still little information about its pharmacokinetics (PK) effects in humans. The purpose of this systematic review is to provide a general overview of the available PK data on cannabis and THC after oral administration. METHODS: A search of the published literature was conducted using the PubMed database to collect available articles describing the PK data of THC after oral administration in humans. RESULTS: The literature search yielded 363 results, 26 of which met our inclusion criteria. The PK of oral THC has been studied using capsules (including oil content), tablets, baked goods (brownies and cookies), and oil and tea (decoctions). Capsules and tablets, which mainly correspond to pharmaceutical forms, were found to be the oral formulations most commonly studied. Overall, the results reflect the high variability in the THC absorption of oral formulations, with delayed peak plasma concentrations compared to other routes of administration. CONCLUSIONS: Oral THC has a highly variable PK profile that differs between formulations, with seemingly higher variability in baked goods and oil forms. Overall, there is limited information available in this field. Therefore, further investigations are required to unravel the unpredictability of oral THC administration to increase the effectiveness and safety of oral formulations in medicinal use.


Subject(s)
Dronabinol/analogs & derivatives , Dronabinol/therapeutic use , Nitrogen Mustard Compounds/therapeutic use , Administration, Oral , Dronabinol/pharmacology , Drug Compounding/methods , Humans , Nitrogen Mustard Compounds/pharmacology
13.
Am J Med Genet A ; 179(10): 1913-1981, 2019 10.
Article in English | MEDLINE | ID: mdl-31468724

ABSTRACT

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.


Subject(s)
Terminology as Topic , Tooth Abnormalities/classification , Tooth Abnormalities/genetics , Tooth/pathology , Anatomic Landmarks , Genetic Predisposition to Disease , Humans , International Cooperation , Mouth Mucosa/pathology , Radiography, Panoramic , Tooth/diagnostic imaging , Tooth Abnormalities/diagnostic imaging , Tooth, Supernumerary/diagnostic imaging
14.
J Clin Dent ; 30(2): 1-5, 2019 Jun.
Article in English | MEDLINE | ID: mdl-31310709

ABSTRACT

OBJECTIVES: An in vitro study was performed to detect occlusal caries lesions of extracted permanent human molars by electrical conductance measurement with the Ortek ECD™ electronic device, and each tooth was sectioned and biopsied to validate and evaluate results. METHODS: Thirty-nine permanent molars were extracted. Thirteen were freshly erupted and had little opportunity to develop lesions. Twenty-six were in the mouth longer and likely to be carious. After extraction and storage in a mild disinfectant, each tooth was thoroughly rinsed with distilled water and positioned upright to enable its electrical conductance measurement. Electrical conductance was measured in pits and fissures of carious and non-carious permanent molars with an Ortek ECD. Crowns were sectioned horizontally producing 630 µm thick slices and examined individually for demineralization by light microscopy and photography. Tooth biopsy was analyzed to ascertain the degree of tooth demineralization. RESULTS: Visual examination by light microscopy and photography of the sections of non-carious and carious teeth were analyzed. Noncarious teeth showed no mineral loss and showed an electrical conductance score of 0.0 µA. In carious teeth, this score ranged from 0.3 to 3.0. A significant (p < 0.001) correlation coefficient (r) of 0.914 was obtained. Electrical conductance versus biopsy resulted in high values for sensitivity (100%) and specificity (93%). It showed a positive predictive value (PPV) of 96% and a negative predictive value (NPV) of 100% for electrical conductance versus biopsy. CONCLUSIONS: Subject to in vivo clinical support, the Ortek ECD is likely to prove to be the best method for detection and evaluation of early occlusal caries.


Subject(s)
Dental Caries , Tooth Demineralization , Biopsy , Dental Caries/therapy , Humans , Molar , Reproducibility of Results
15.
Int J Med Sci ; 15(12): 1286-1295, 2018.
Article in English | MEDLINE | ID: mdl-30275754

ABSTRACT

Cannabis is becoming increasingly present in our society. In recent years, the line between the natural (cannabis) and the synthetic (synthetic cannabinoids), the recreational (cannabis) and the medical (pharmaceutical cannabinoids and medical cannabis) has been crossed. In this paper we review some of the novel aspects of cannabis and cannabinoids in relation to their legal situation, changes in their composition and forms of cannabis use, the concept of medical cannabis, and synthetic cannabinoids as new psychoactive substances (NPS). We have also analyzed serious adverse reactions and intoxications associated with the use of synthetic cannabinoids, as well as the latest developments in the research of pharmaceutical cannabinoids.


Subject(s)
Cannabinoids , Cannabis , Cannabinoids/chemistry , Cannabinoids/pharmacology , Cannabinoids/therapeutic use , Legislation, Drug
16.
J Med Genet ; 54(1): 26-37, 2017 01.
Article in English | MEDLINE | ID: mdl-27530400

ABSTRACT

BACKGROUND: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19. Moreover, the enamel phenotype of patients with CLDN19 mutations has never been described. In this study, we describe the clinical and genetic features of nine patients with FHHNC carrying CLDN19 mutations and the claudin-19 expression profile in rat ameloblasts. METHODS: Six FHHNC Brazilian patients were subjected to mutational analysis. Three additional French patients were recruited for orodental characterisation. The expression profile of claudin-19 was evaluated by RT-qPCR and immunofluorescence using enamel epithelium from rat incisors. RESULTS: All patients presented AI at different degrees of severity. Two new likely pathogenic variations in CLDN19 were found: p.Arg200Gln and p.Leu90Arg. RT-qPCR revealed low Cldn19 expression in ameloblasts. Confocal analysis indicated that claudin-19 was immunolocalised at the distal poles of secretory and maturing ameloblasts. CONCLUSIONS: For the first time, it was demonstrated that AI is associated with FHHNC in patients carrying CLDN19 mutations. The data suggest claudin-19 as an additional determinant in enamel formation. Indeed, the coexistence of hypoplastic and hypomineralised AI in the patients was consistent with claudin-19 expression in both secretory and maturation stages. Additional indirect systemic effects cannot be excluded.

17.
Exp Brain Res ; 234(8): 2245-52, 2016 08.
Article in English | MEDLINE | ID: mdl-27025506

ABSTRACT

This small clinical trial utilized a novel rehabilitation strategy, rapid-resisted elliptical training, in an effort to increase motor, and thereby cognitive, processing speed in ambulatory individuals with traumatic brain injury (TBI). As an initial step, multimodal functional abilities were quantified and compared in 12 ambulatory adults with and 12 without TBI. After the baseline assessment, the group with TBI participated in an intensive 8-week daily exercise program using an elliptical trainer and was reassessed after completion and at an 8-week follow-up. The focus of training was on achieving a fast movement speed, and once the target was reached, resistance to motion was increased in small increments to increase intensity of muscle activation. Primary outcomes were: High-Level Mobility Assessment Tool (HiMAT), instrumented balance tests, dual-task (DT) performance and neurobehavioral questionnaires. The group with TBI had poorer movement excursion during balance tests and poorer dual-task (DT) performance. After training, balance reaction times improved and were correlated with gains in the HiMAT and DT. Sleep quality also improved and was correlated with improved depression and learning. This study illustrates how brain injury can affect multiple linked aspects of functioning and provides preliminary evidence that intensive rapid-resisted training has specific positive effects on dynamic balance and more generalized effects on sleep quality in TBI.


Subject(s)
Brain Injuries, Traumatic/rehabilitation , Depression/rehabilitation , Learning/physiology , Outcome Assessment, Health Care , Postural Balance/physiology , Psychomotor Performance/physiology , Resistance Training/methods , Sleep/physiology , Adult , Chronic Disease/rehabilitation , Female , Humans , Male , Young Adult
18.
J Clin Periodontol ; 43(6): 492-502, 2016 06.
Article in English | MEDLINE | ID: mdl-26926312

ABSTRACT

AIM: To systematically evaluate the accuracy of host-derived salivary biomarkers in the diagnosis of periodontal disease based on the given sensitivity and specificity information. MATERIALS AND METHODS: Studies were eligible for inclusion if they had compared the diagnostic application of salivary biomarkers with clinical examination of periodontal disease. A detailed search was performed in five databases without restrictions on subject age, chronology, or language. Additionally, a partial grey-literature search was conducted. The revised Quality Assessment of Diagnostic Accuracy Studies tool and Meta-analysis were used to evaluate the selected studies. RESULTS: From the 905 screened studies, four were included in the qualitative and quantitative analysis. One biomarker, macrophage inflammatory protein-1α (MIP-1α), had excellent diagnostic accuracy and two, interleukin-1ß (IL-1ß) and interleukin-6 (IL-6), showed acceptable diagnostic values. However, the only biomarker considered excellent was evaluated in a single study, which may reduce the robustness of the results. CONCLUSION: There is currently limited evidence to confirm the diagnostic capability of salivary biomarkers in the clinical assessment of periodontal disease. Notwithstanding, the summary findings showed the growing importance of salivary biomarker, and can guide larger, well-controlled, diagnostic accuracy studies. Likewise, although not conclusive, MIP-1α, IL-1ß, and IL-6 may be promising biomarkers for future studies.


Subject(s)
Periodontal Diseases , Biomarkers , Humans , Interleukin-1beta , Interleukin-6 , Saliva
19.
Arch Phys Med Rehabil ; 97(11): 2006-2015, 2016 11.
Article in English | MEDLINE | ID: mdl-27237580

ABSTRACT

The health care delivery system in the United States is challenged to meet the needs of a growing population of cancer survivors. A pressing need is to optimize overall function and reduce disability in these individuals. Functional impairments and disability affect most patients during and after disease treatment. Rehabilitation health care providers can diagnose and treat patients' physical, psychological, and cognitive impairments in an effort to maintain or restore function, reduce symptom burden, maximize independence and improve quality of life in this medically complex population. However, few care delivery models integrate comprehensive cancer rehabilitation services into the oncology care continuum. The Rehabilitation Medicine Department of the Clinical Center at the National Institutes of Health with support from the National Cancer Institute and the National Center for Medical Rehabilitation Research convened a subject matter expert group to review current literature and practice patterns, identify opportunities and gaps regarding cancer rehabilitation and its support of oncology care, and make recommendations for future efforts that promote quality cancer rehabilitation care. The recommendations suggest stronger efforts toward integrating cancer rehabilitation care models into oncology care from the point of diagnosis, incorporating evidence-based rehabilitation clinical assessment tools, and including rehabilitation professionals in shared decision-making in order to provide comprehensive cancer care and maximize the functional capabilities of cancer survivors. These recommendations aim to enable future collaborations among a variety of stakeholders to improve the delivery of high-quality cancer care.


Subject(s)
Cancer Care Facilities/organization & administration , Neoplasms/rehabilitation , Disability Evaluation , Home Care Services/organization & administration , Humans , Physical Therapy Modalities , Survivors , United States
20.
Phytother Res ; 30(4): 519-31, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26822584

ABSTRACT

This systematic review aimed to evaluate the effects of plants on osteogenic differentiation and mineralization of human periodontal ligament cells. The included studies were selected using five different electronic databases. The reference list of the included studies was crosschecked, and a partial gray literature search was undertaken using Google Scholar and ProQuest. The methodology of the selected studies was evaluated using GRADE. After a two-step selection process, eight studies were identified. Six different types of plants were reported in the selected studies, which were Morinda citrifolia, Aloe vera, Fructus cnidii, Zanthoxylum schinifolium, Centella asiatica, and Epimedium species. They included five types of isolated plant components: acemannan, osthole, hesperetin, asiaticoside, and icariin. In addition, some active substances of these components were identified as polysaccharides, coumarins, flavonoids, and triterpenes. The studies demonstrated the potential effects of plants on osteogenic differentiation, cell proliferation, mineral deposition, and gene and protein expression. Four studies showed that periodontal ligament cells induce mineral deposition after plant treatment. Although there are few studies on the subject, current evidence suggests that plants are potentially useful for the treatment of periodontal diseases. However, further investigations are required to confirm the promising effect of these plants in regenerative treatments.


Subject(s)
Osteogenesis/drug effects , Periodontal Ligament/cytology , Plant Extracts/pharmacology , Aloe/chemistry , Cell Differentiation/drug effects , Cell Proliferation/drug effects , Centella/chemistry , Coumarins/pharmacology , Epimedium/chemistry , Flavonoids/pharmacology , Hesperidin/pharmacology , Humans , Mannans/pharmacology , Morinda/chemistry , Periodontal Ligament/drug effects , Triterpenes/pharmacology , Zanthoxylum/chemistry
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