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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 (

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 and secondary chronic osteomyelitis, maxillary hypoplasia, compromised oral conditions, temporomandibular disorders, and psychologic distress. The treatment included 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.

International audience; 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 splitmouth 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

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.

Introduction: Management of an edentulous area when the tooth is impacted is often a challenge. Usually, treatments are by far orthodontic traction followed by tooth removal with dental implant placement. With piezosurgery, minimally invasive auto-transplantation can be an alternative. Observation: A 27-year-old patient presenting terminal mobility of the tooth no°63 consulted for replacement. Among the different therapeutic solutions, a surgical transposition of her impacted tooth no°23 with a conservative bone window replacement was decided. After a 12-month follow up period, X-rays showed no sign of ankylosis, root resorption or apical pathology, while clinical criteria such as tooth function, mobility and aesthetic integration were all satisfying. Commentaries: Space closure, dental implant and bonded bridge were alternatives. The interest of this clinical case is to restore the functional and aesthetic roles of the canine without compromising any potential implant placement later. Also the patient can still have the possibility to opt for an implant-supported crown in the long-term thanks to the bone volume maintained. Conclusion: When orthodontic realignment is considered as not possible, auto-transplantation of a tooth can be a good choice before going on dental implant therapeutic.

Published Erratum: Correction to: Nature Genetics 51: 1438–1441 https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019.In the version of this article initially published, authors Bénédicte Demeer and Bernard Devauchelle were missing the affiliation EA CHIMERE–7516, Université Picardie Jules Verne, Amiens, France. The error has been corrected in the HTML and PDF versions of the article.; An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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.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 pockets5 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.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 levels5 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 loss20% (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 loss20% compared with those with bone loss20% (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.This case-control study demonstrates that periodontal disease, especially markers such as BOP and bone loss, is independently associated with ischemic stroke.

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 towards elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease., Editorial summary Postzygotic inactivating mutations in RHOA cause a mosaic neuroectodermal syndrome characterized by linear hypopigmentation, leukoencephalopathy, and craniofacial anomalies, highlighting the role of RHOA in human development and disease.

Objectif : L’inflammation buccale pourrait constituer un facteur de risque des accidents vasculaires cerebraux d’origine ischemique (AVCI). L’objectif de notre etude est de rechercher un lien entre inflammation buccale et survenue d’AVCI non fatals, sans sequelle motrice ou cognitive (NIH Materiel et methodes : Une etude observationnelle de type cas-temoins portant sur 48 cas d’AVCI et 47 patients temoins a ete conduite au CHU de Dijon. Un examen clinique odontologique et un panoramique dentaire ont ete effectues un mois apres l’AVCI. Les donnees biologiques recueillies le jour de l’AVCI (C-reactive protein ou CRP, triglycerides, HDL, LDL, glycemie) ont ete analysees. Les facteurs de risque vasculaires ont ete releves. Nous avons estime les odds ratios (OR) apres ajustement sur l’âge et le sexe. Les patients edentes et ayant une recidive d’AVC, avec antecedents d’immunosuppression, de cancer, de syndrome infectieux ou inflammatoire systemique autre que l’inflammation buccale ont ete exclus. Resultats : Les patients des deux groupes etaient comparables sauf pour l’hypertension arterielle qui etait plus frequente chez les cas d’AVCI (50 % vs. 17 % ; p = 0,014). En analyse multivariee, le risque de developper un AVCI est plus eleve en cas d’atteinte parodontale severe par rapport a une atteinte parodontale faible (OR = 5,57 ; [IC 95 % : 1,6–18,5]). L’indice CAOD etait significativement plus important chez les cas d’AVCI (OR = 4,37 ; [IC 95 % : 1,78–10,7]). Un taux de CRP superieur a 5 mg/l etait aussi associe a la survenue des AVCI (OR = 5,6 [IC 95 % : 2–15,7]). L’analyse de la population de l’etude montrait une CRP ( p p = 0,001) augmentes alors que les taux d’HDL etaient diminues ( p = 0,0056) chez les patients atteints de parodontite severe par rapport a ceux atteints d’une maladie parodontale faible ou absente. Conclusion : Les resultats suggerent l’existence d’un lien entre l’inflammation buccale et la survenue d’un AVCI. Un profil lipidique et inflammatoire favorisant l’atherome a ete constate chez les patients atteints d’une atteinte parodontale severe. Le role de l’inflammation buccale dans les processus de l’atherosclerose est evoque. Chez les patients avec une atteinte parodontale, la recherche de marqueurs biologiques favorisant l’atherosclerose pourrait permettre de contribuer a la prevention des AVCI.

Les auteurs se proposent, a partir de deux observations cliniques, de montrer qu’une LAM (leucemie aigue myeloide) peut, d’un cote, se presenter de maniere classique avec confirmation biologique d’emblee et, de l’autre, se traduire par des manifestations cliniques, masquees par un contexte particulier ou il est difficile de suspecter une LAM en premiere intention.L’interet de cette communication est de montrer qu’a partir de signes cliniques tres differents tant dans l’exuberance que dans la discretion, le diagnostic reste le meme alors que l’issue est totalement opposee. Il ressort de cette experience que toute expression buccale d’une pathologie generale doit etre systematiquement bilantee des sa prise en charge initiale.

De nombreuses etudes suggerent l’existence d’un lien entre les maladies parodontales et les pathologies atheromateuses sans en expliquer les mecanismes d’action (Mattila et al. 1989 ; Beck et al. 1996). Dans une hypothese, c’est l’endotoxemie induite par une inflammation qui jouerait un role important (Johnson et al. 2005). Cette endotoxemie « a bas bruit » provoquee par l’inflammation buccale pourrait induire la liberation de mediateurs de l’inflammation et avoir un impact sur le taux systemique de ces memes mediateurs favorisant ainsi l’atherosclerose.

This review aimed to determine the association between periodontal disease and stroke incidence by a meta-analysis of cohort studies. Cohort studies that evaluated the incidence of stroke (fatal or non-fatal, ischaemic or haemorrhagic) and baseline periodontal status and calculated relative risk values were included. The quality of the included studies was assessed using an evaluation grid. The analyses were conducted separately for three outcomes: periodontitis, gingivitis and loss of teeth. Adjusted values of relative risk or of hazard ratio were used to assess risk values in each study. Random effects meta-analyses were conducted when data could be pooled. From the 743 references retrieved, only nine cohort studies were suitable for inclusion in this review. Quality scores of the studies varied greatly. Three prospective studies, which used reliable indicators of periodontal disease, obtained the highest scores. Conversely, three studies that used a subjective evaluation of stroke incidence or diagnosed stroke without imaging obtained the lowest score. The results of the meta-analyses varied depending on the outcome considered and the type of stroke. The risk of stroke was significantly increased by the presence of periodontitis [relative risk 1.63 (1.25, 2.00)]. Tooth loss was also a risk factor for stroke [relative risk 1.39 (1.13, 1.65)]. The risk of stroke did not vary significantly with the presence of gingivitis. This review shows that periodontitis and tooth loss are associated with the occurrence of stroke.

International audience; 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.