Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.

Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects.

The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents.

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.

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI).

Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous deletion.

We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis.

Unequal Impact of and Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by or heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting or variants.

Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.

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.

Phenotypic dento-osseous characterization of a Brazilian family with Familial Adenomatous Polyposis.

Objective: To perform a phenotypic characterization of the dento-osseous anomalies in a Brazilian family with Familial Adenomatous Polyposis (FAP) and to investigate the adenomatous polyposis coli (APC) causative variant.

Design: The study included a family of 14 individuals (Group A: affected; Group B: non-affected). The frequency of radiographic findings in both groups was evaluated according to the Dental Panoramic Radiograph Score (DPRS) diagnostic method.

Restorations after selective caries removal: 5-Year randomized trial.

Objective: To compare the survival of restorations placed in deep caries lesions after selective caries removal to soft dentin (SCRSD) over a 5-year period. A secondary aim was to investigate whether the material (amalgam or resin composite) affected the survival of restorations.

Methods: This study used data derived from a multicenter randomized controlled clinical trial (Clinical trials registration NCT00887952).

Partial caries removal in deep caries lesions: a 5-year multicenter randomized controlled trial.

Objective: This multicenter randomized controlled clinical trial aimed to compare the outcomes of stepwise excavation (SW) and partial caries removal (PCR) regarding the maintenance of pulp vitality in deep caries lesions over 5 years.

Methods: At baseline, 299 permanent molars with deep caries lesions were randomly assigned to control or test groups. The control group received the stepwise excavation treatment (SW), while the test group received partial caries removal from the pulpal wall followed by restoration in a single session (PCR).

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.

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.

Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.

Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in amelogenesis imperfecta (AI) in the 5 studied patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). To investigate the role of CLDN16 in tooth formation, we studied a murine model of FHHNC and showed that CLDN16 deficiency led to altered secretory ameloblast TJ structure, lowering of extracellular pH in the forming enamel matrix, and abnormal enamel matrix protein processing, resulting in an enamel phenotype closely resembling human AI.

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of calcium and magnesium, nephrocalcinosis, chronic kidney disease, and early progression to end-stage renal failure during infancy.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular analysis and clinical phenotypes of five individuals from two consanguineous Brazilian families with attenuated Raine Syndrome with previously unreported features.

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules.

Effects of single exposure of sodium fluoride on lipid peroxidation and antioxidant enzymes in salivary glands of rats.

Many studies suggest that fluoride exposure can inhibit the activity of various enzymes and can generate free radicals, which interfere with antioxidant defence mechanisms in living systems. To further the understanding of this issue, this present study examined the effects of low-dose fluoride treatment on the activity of enzymatic antioxidant superoxide dismutase (SOD) and catalase (CAT), as well as the levels of lipid peroxidation (LPO) in the parotid (PA) and submandibular (SM) salivary glands of rats. Rats were injected with a single dose of sodium fluoride (NaF) (15 mg F(-)/kg b.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.

Methods: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption).

Partial removal of carious dentine: a multicenter randomized controlled trial and 18-month follow-up results.

Aim: The aim of this study was to evaluate the effectiveness of partial removal of carious dentine and restoration in a single session (PDR) and stepwise excavation (SW), both of which are treatments for deep carious lesions, in Public Health Services in Brazil.

Inclusion Criteria: patients ≥6 years old, permanent molars with deep caries lesions (having a radiolucency halfway or more into dentine) and pulp vitality but absence of spontaneous pain, positive percussion test, and periapical alterations. The subjects received either PDR (test group) or SW (control group).

Effect of dialyzed saliva on human enamel demineralization.

Background: Saliva is supersaturated with respect to calcium and phosphate ions. Salivary ions may well play a role in the subsequent adsorption of proteins and consequently in the formation of the acquired enamel pellicle. Among several biological functions, the enamel pellicle forms a selectively permeable barrier that regulates demineralization processes.

Randomized trial of partial vs. stepwise caries removal: 3-year follow-up.

This randomized, multicenter clinical trial evaluated the effectiveness of 2 treatments for deep caries lesions - partial caries removal (PCR) and stepwise excavation (SW) - with respect to the primary outcome of pulp vitality for a 3-year follow-up period. Inclusion criteria were as follows: patients with permanent molars presenting deep caries lesions (lesion affecting ≥ 1/2 of the dentin on radiographic examination), positive response to a cold test, absence of spontaneous pain, negative sensitivity to percussion, and absence of periapical lesions (radiographic examination). Teeth randomly assigned to PCR (test) received incomplete caries removal and filling in a single session.

Effect of topical application of fluoride gel NaF 2% on enzymatic and non-enzymatic antioxidant parameters of saliva.

Objective: The aim of the study was to evaluate the effect of topical fluoride gel NaF 2% application on antioxidant parameters of whole saliva from children.

Design: The saliva mechanically stimulated with parafilm was collected from 25 children (6-12 years) attending the Clinic of Paediatric Dentistry of Universidade Cruzeiro do Sul, São Paulo, Brazil, before (control group) and immediately after application of neutral fluoride gel NaF 2% (fluoride-gel group), according to the Standards for Research Using Human Subjects, Resolution 196/96 of the USA National Health Council of 10/10/1996. Afterwards, pre-post ferric-reducing antioxidant power (FRAP), trolox-equivalent antioxidant capacity (TEAC), uric acid, reduced/oxidised glutathione content (GSH/GSSG) and total peroxidase activity (TPO) were evaluated in whole saliva of both groups.

Effect of diode laser on enzymatic activity of parotid glands of diabetic rats.

The aim of this study was to evaluate the effect of laser irradiation (LI) on enzymatic activities of amylase, catalase and peroxidase in the parotid glands (PG) of diabetic and non-diabetic rats. Ninety-six female rats were divided into eight groups: D0; D5; D10; D20 and C0; C5; C10; C20, respectively. Diabetes was induced by administration of streptozotocin and confirmed later by the glycemia results.

Rehabilitation of an adolescent with autosomal dominant amelogenesis imperfecta: case report.

Amelogenesis imperfecta is a hereditary condition that affects tooth enamel without systemic involvement. In the most severely affected patients, teeth can present alterations in enamel thickness, color and shape, all which compromise aesthetic appearance and mastigatory function. Several treatment options have been described to rehabilitate these patients, ranging from preventive intervention to a prosthodontic approach.

Changes in amelogenesis in the rat incisor following short-term hypocalcaemia.

There is a relationship between hypocalcaemia and the enamel hypoplasia. Earlier studies in rats have reported a severe hypocalcaemia and enamel hypoplasia a month after thyro-parathyroidectomy (TPTX). The aims of this study were to look at earlier stages and to attempt to correlate morphological changes with alterations in the distribution of amelogenin.

Antioxidant parameters and lipid peroxidation in salivary glands of streptozotocin-induced diabetic rats.

Background: There is evidence suggesting an unbalance between oxidant and antioxidant status associated with diabetes. Considering that salivary function is essential for the maintenance of oral and systemic health, this study was designed to examine the levels of reduced and oxidized glutathione and the activities of the antioxidant enzymes, such as superoxide dismutase, catalase, and glutathione peroxidase, in salivary gland of streptozotocin-induced diabetic rats.

Methods: The content of malondialdehyde was determined in the blood and in the salivary glands.

In vitro study of laser diode 655 nm diagnosis of occlusal caries.

The aim of this in vitro study was to evaluate the performance of a new laser method (DIAGNOdent, KaVo) by comparing it to the visual inspection, conventional bitewing radiography and digital bitewing radiography. Fifty fresh permanent teeth with clinically sound or suspicious fissures were selected. The teeth were submitted to the diagnostic tests by 2 examiners independently after calibration.