Interdisciplinary rehabilitation using CAD-CAM technology for a young patient with severe malocclusion and amelogenesis imperfecta: A 5-year follow-up case report.

Treatment of acute cases of amelogenesis imperfecta is challenging in children due to the absence of a consensus statement on therapy recommendations. This article presents the effectiveness of an interdisciplinary approach, including orthodontics, orthognathic surgery, and prosthodontics using digital technology, in a child with amelogenesis imperfecta and skeletal deformities. The early management over a 6-year period had a very positive impact on the quality of life related to oral health. The full-mouth rehabilitation in adulthood with all-ceramic crowns showed a fully satisfactory result after 60 months of follow-up.

Prosthetic Management of Albers-Schönberg Disease with Osteomyelitis: A 10-Year Follow-up Case Report.

Albers-Schönberg disease is a rare bone syndrome characterized by increased bone density and infectious complications after dental extraction or minor surgery. The prosthodontic management of such edentulous patients with osteomyelitis is very challenging and requires special strategies due to a high risk of failure and worsening of the condition. This clinical report describes the rehabilitation of a 31-year-old edentulous woman presenting with Albers-Schönberg disease, secondary chronic osteomyelitis, maxillary hypoplasia, compromised oral conditions, temporomandibular disorders, and psychologic distress. The treatment included a mandibulectomy and removable prostheses. A crucial element for the successful long-term treatment and quality of life improvement observed in this patient was the 1-year transitional phase with interim dentures and frequent follow-up appointments. The complications and management proposed during a 10-year follow-up are presented. Int J Prosthodont 2023;36:642-648.

Comparison of the Biological Behavior and Topographical Surface Assessment of a Minimally Invasive Dental Implant and a Standard Implant: An In Vitro Study.

The current study aimed to assess the topographical and physical properties of a minimally invasive implant (MagiCore®: MC®, InnosBioSurg, IBS) and to evaluate its biological behavior compared to a gold standard implant (NobelParallel™: NB™, Nobel Biocare™). After surface characterization, the biological behavior assessment was conducted regarding human gingival fibroblasts (hGF) and osteoblast-like cells (MG63). Roughness values for NBTM were Ra = 1.28 µm and for MC® they were Ra = 2.02 µm. Alamar BlueTM assay LIVE/DEADTM staining results indicated equivalent biological development regarding both cell types for the two implants. Significant enhancement was found for hGF ALP activity in the presence of the two tested implants in a time-dependent manner from day 7 to day 14 (** p < 0.01). Alizarin red staining demonstrated significant calcium deposition enhancement when cells were interfaced with the NB™ compared to the MC® implant (** p < 0.05). Moreover, SEM and confocal imaging revealed good cell adhesion with a denser cellular layer on the MC® than the NB™ surface. The MC® cytocompatibility was ranked as equivalent to the gold standard implant despite the surface properties differences. These findings provide new insights about the minimally invasive implant's biological behavior and its potential clinical implication in different implantology situations.

Histologic and histomorphometric evaluation of new zirconia-based ceramic dental implants: A preclinical study in dogs.

OBJECTIVE: Healing of soft tissues and improvement of aesthetics have become major research objectives in implantology and renewed the interest for ceramics implants. The aim of this study was to evaluate the pre-clinical performance of screw-shaped sandblasted-etched implants processed from an innovative zirconia-based ceramic composite, in comparison to titanium. METHODS: Twenty-four ceramic and twenty-four titanium screw-shaped sandblasted-etched dental implants were tested in a split-mouth design in six Beagle dogs. Surface topographies were investigated by confocal microscopy. Local tissue effects were evaluated at 4 and 13 weeks after implantation through histology. An ANOVA statistical analysis (5% risk; p < 0.05) was performed to compare peri-implant quantitative histomorphometric parameters on buccal and lingual sides, including Bone to Implant Contact (BIC) among test groups and time-periods. RESULTS: Titanium and ceramic implants presented respectively moderate and minimal roughness. After 4 and 13 weeks, ceramic implants showed an inflammatory tissue response close to titanium implants. At both period of time there was no significant difference between the titanium and ceramic groups in terms of BIC values (mean ± SD) at the lingual or buccal sides or when combining buccal + lingual BIC values (respectively for titanium and ceramic, 68.4 ± 14.7 % and 75.0 ± 13.5 % at 4 weeks, and 92.0 ± 8.6 % and 86.1 ± 13.8 % at 13 weeks). SIGNIFICANCE: Within the limits of the present study, it can be concluded that newly developed zirconia-based ceramic composite dental implants have similar biocompatibility and osseointegration to those observed in titanium implants. These pre-clinical results corroborate the potential for the use of these new zirconia-based ceramics in oral implantology.

Periodontal disorders in a cohort of patients with Cohen syndrome.

AIMS: Cohen syndrome (CS) is an uncommon autosomal recessive disorder due to mutations in vacuolar protein sorting 13B, with an intermittent presence of neutropenia. Contrary to other clinical phenotypic features, oral health has been little investigated in CS. We described oral health and dental hygiene in a cohort of CS patients. METHODS AND RESULTS: Twelve CS patients with neutropenia (<1500/mm3 ) were recruited in the dental department of Dijon University Hospital (France). Patients underwent oral examination, and blood samples were collected. Oral health markers were described and compared between patients with moderate and severe neutropenia (<500/mm3 ). In 12 patients (mean age = 21.1 years, SD = 13.7, six females), 45.5% brushed at least twice daily their teeth, and the same percentage annually visited a dentist. Dental plaque index was high (mean = 1.7, SD = 1.4). So was the number of lost teeth per patient, notably among adults (mean = 13.8, SD = 9.8). Elevated markers of periodontitis were noted as percentage of bleeding dental sites (mean = 70.2%, SD = 45.2%) or Gingival Index (mean = 2.2, SD = 1.0). The severity of neutropenia was correlated to the level of tooth-loss (P = .03). CONCLUSION: This study highlighted in CS patients worrisome oral health and dental follow-up in the context of intellectual disability with behavioural anomalies. More attention is needed by care-givers on oral condition in CS.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate here that this neutropenia results from an exaggerate rate of neutrophil apoptosis. Besides this increased cell death, which occurs in the absence of any endoplasmic reticulum stress or defect in neutrophil elastase (ELANE) expression or localization, all neutrophil functions appeared to be normal. We showed a disorganization of the Golgi apparatus in CS neutrophils precursors, that correlates with an altered glycosylation of ICAM-1 in these cells, as evidenced by a migration shift of the protein. Furthermore, a striking decrease in the expression of SERPINB1 gene, which encodes a critical component of neutrophil survival, was detected in CS neutrophils. These abnormalities may account for the excessive apoptosis of neutrophils leading to neutropenia in CS. KEY MESSAGES: Cohen syndrome patients' neutrophils display normal morphology and functions. Cohen syndrome patients' neutrophils have an increased rate of spontaneous apoptosis compared to healthy donors' neutrophils. No ER stress or defective ELA2 expression or glycosylation was observed in Cohen syndrome patients' neutrophils. SerpinB1 expression is significantly decreased in Cohen syndrome neutrophils as well as in VPS13B-deficient cells.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due to mutations in the same gene, and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5, which encodes the cytoplasmic sodium-dependent citrate carrier, notably expressed in neurons. Disease association was confirmed by cosegregation analysis in additional family members. Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with compound heterozygous mutations of SLC13A5 and a similar clinical presentation as the index subjects. Mutations affected key residues for sodium binding, which is critical for citrate transport. These findings underline the value of careful clinical characterization for genetic investigations in highly heterogeneous conditions such as EE and further highlight the role of citrate metabolism in epilepsy.

Association between periodontal disease and non-fatal ischemic stroke: a case-control study.

OBJECTIVE: This study aimed to investigate the association between clinical and radiological markers of periodontal disease and ischemic stroke and to assess the potential influence of inflammatory response on the observed associations. METHODS: A prospective case-control study including a series of 48 cases with a minor ischemic stroke and 47 controls was conducted at the University Hospital of Dijon. Vascular risk factors, clinical dental examination (plaque index, gingival index, percentage of pockets >5 mm, percentage of bleeding on probing (BOP) sites), dental panoramic (bone loss) and biological parameters (CRP, total cholesterol, HDL, LDL, fasting glucose) were collected. Conditional regression analyses were performed to identify factors associated with ischemic stroke. RESULTS: The prevalence of hypertension, high CRP and glucose levels and overall odontological variables was higher in stroke patients. In multivariable analyses, hypertension (OR = 12.56; 95% CI = 2.29-69.96, p = 0.004), CRP levels >5 mg/L (OR = 18.54; 95% CI = 2.01-171.17, p = 0.010), BOP (OR = 1.049; 95% CI = 1.012-1.88, p = 0.009) and bone loss >20% (OR = 1.053; 95% CI = 1.017-1.091, p = 0.004) were associated with ischemic stroke. Among stroke patients, there was a non-significant trend towards higher CRP levels in patients with bone loss >20% compared with those with bone loss <20% (8.1 ± 1.27 mg/L vs 3.12 ± 3.14 mg/L, p = 0.25), whereas other biological parameters were very similar between the two groups. CONCLUSION: This case-control study demonstrates that periodontal disease, especially markers such as BOP and bone loss, is independently associated with ischemic stroke.