91 results match your criteria: "Hôpitaux universitaires de Strasbourg (HUS)[Affiliation]"

Organotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis.

Tissue Eng Part A

September 2024

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS-UMR7104, INSERM U1258, Université de Strasbourg, Illkirch, France.

Odontogenesis, the intricate process of tooth development, involves complex interactions between oral ectoderm epithelial cells and ectomesenchymal cells derived from the cephalic neural crest, regulated by major signaling pathways. Dental developmental anomalies provide valuable insights for the clinical diagnosis of rare diseases. More than 30% of patients with rare diseases who undergo molecular analysis suffer from diagnostic errancy.

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Article Synopsis
  • This study examined tooth agenesis and supernumerary teeth in Thai patients with non-syndromic cleft lip and palate over a ten-year period at Tawanchai Cleft Center.
  • Results showed that tooth agenesis was significantly more common (77.3%) than supernumerary teeth (5.7%), particularly in patients with bilateral cleft lip and palate.
  • The most affected teeth were upper lateral incisors, and anomalies were primarily observed on the left side of the maxilla, indicating a possible genetic link.
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i-Dent: A virtual assistant to diagnose rare genetic dental diseases.

Comput Biol Med

September 2024

Reference Center for Rare Oral and Dental Diseases, Hôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Centre de Référence des Maladies Rares Orales et Dentaires, CRMR O-Rares, Filière Santé Maladies Rares TETE COU, European Reference Network ERN CRANIO, 1 Place de l'Hôpital, 67000, Strasbourg, France; Université de Strasbourg, Faculté de Chirurgie Dentaire, 8 Rue St Elisabeth, 67000, Strasbourg, France; Université de Strasbourg, Institut d'études Avancées (USIAS), Strasbourg, France; Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U1258, CNRS - UMR7104, BP 10142, 1 Rue Laurent Fries, 67404, Illkirch-Graffenstaden, France. Electronic address:

Rare genetic diseases are difficult to diagnose and this translates in patient's diagnostic odyssey! This is particularly true for more than 900 rare diseases including orodental developmental anomalies such as missing teeth. However, if left untreated, their symptoms can become significant and disabling for the patient. Early detection and rapid management are therefore essential in this context.

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Biallelic variants in Plexin B2 () cause amelogenesis imperfecta, hearing loss and intellectual disability.

J Med Genet

June 2024

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.

Article Synopsis
  • Plexins are important receptors associated with semaphorin signaling, involved in essential cellular interactions during both development and adulthood, with only some variants linked to genetic diseases so far.
  • A study examined eight individuals from six families with a rare recessive condition characterized by amelogenesis imperfecta (AI), sensorineural hearing loss (SNHL), and varying levels of intellectual disability, using genetic sequencing and variant analysis.
  • The research identified pathogenic biallelic variants in the plexin B2 gene, linked to a new autosomal recessive syndrome that features AI and SNHL, along with potential additional symptoms like intellectual disability and developmental abnormalities.
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[The tooth: A marker of developmental abnormalities].

Med Sci (Paris)

January 2024

FHU DDS Paris-Net, université Paris Cité, Inserm, AP-HP ; laboratoire BRIO URP2496, UFR d'odontologie ; AP-HP, hôpital Bretonneau ; centre de référence maladies Rares du métabolisme du calcium, phosphate et magnésium, filière OSCAR, European Reference Network BOND, Paris.

Article Synopsis
  • Tooth formation involves specific interactions between epithelial and mesenchymal tissues, and any anomalies may indicate underlying health issues in systems like the kidneys, bones, or nervous system.
  • The process of tooth development starts at three weeks of gestation, initiated by a signal from the PITX2 gene, and progresses through various stages influenced by multiple transcription factors and growth factors such as BMP, FGF, SHH, and WNT.
  • Disruptions in these developmental processes can lead to changes in tooth structure and shape, which should be considered in patient assessments and could help identify genetic abnormalities for better multidisciplinary treatment.
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The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Sci Rep

January 2024

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Université de Strasbourg, Illkirch, France.

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi mutant model recapitulates most KTS symptoms.

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European countries have become host countries for migrants and unaccompanied minors. However, many migrants arrive without identity documents. Many methods exist to estimate age; among them, several methods using dental age have been proposed.

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Article Synopsis
  • The study focuses on male fertility preservation (FP) through sperm banking for men aged 15-49 diagnosed with testicular cancer (TC) or lymphomas (L) in France in 2018.
  • It analyzed data from the French National Cancer Institute and sperm banking centers, estimating sperm banking rates of 41% for TC, 40% for Hodgkin L, and 7% for non-Hodgkin L among diagnosed men.
  • The findings suggest a need for improved patient education and awareness to increase sperm banking rates and assess factors leading to the lack of sperm preservation before gonadotoxic treatments.
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Loss of NR5A1 in mouse Sertoli cells after sex determination changes cellular identity and induces cell death by anoikis.

Development

December 2023

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Département de Génétique Fonctionnelle et Cancer, Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Santé et de la Recherche Médicale (INSERM U1258), Université de Strasbourg (UNISTRA), 1 rue Laurent Fries, BP-10142, F-67404 Illkirch Cedex, France.

To investigate the role of the nuclear receptor NR5A1 in the testis after sex determination, we analyzed mice lacking NR5A1 in Sertoli cells (SCs) from embryonic day (E) 13.5 onwards. Ablation of Nr5a1 impaired the expression of genes characteristic of SC identity (e.

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Purpose Of Research: We aimed to describe the type of emergencies as well as the population treated for oral emergencies at the Pôle de Médecine et Chirurgie Bucco-Dentaires (Dental Medicine and Surgery Center) of Strasbourg during the COVID-19 lockdown period from March 17 to May 9, 2020.

Unlabelled: Information on patient care circuits as well as the demographic and clinical data concerning all those who accessed the Center during the study period were collected by questionnaire and from medical files. Pain was rated on a numerical scale from 0 to 10.

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The "new normal" of hygiene measures at the end of the COVID-19 epidemic: a survey among French dentists.

BMC Health Serv Res

November 2023

Faculté de Chirurgie Dentaire, Université de Strasbourg, 8 rue Ste Elisabeth, Strasbourg, F-67000, France.

Objectives: The COVID-19 epidemic upset the standards in terms of hygiene and protection in the dental office, bringing additional precautions for dentists. The objective of our study was to draw the "new normal" of hygiene measures at the end of the COVID-19 epidemic.

Materials And Methods: A self-administered questionnaire about transitional recommendations for oral care in the context of the COVID-19 epidemic was published online in private groups dedicated to French dentists.

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Unlabelled: Irreversible pulpitis is an extremely painful dental pathology. Its emergency treatment, pulpotomy, should include the use of a pulp dressing in the pulp chamber until the final treatment. Various antalgic products have been suggested as efficient medications to relieve the patient's pain and are commonly used, but data for scientific validation are scarce.

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Background: Many studies show a higher prevalence of back pain for dentists and dental students than in the general population. This leads to a need to integrate an effective back pain prevention program (BPPP) into the student's curriculum. We have implemented such a program for 10 years, and the objective was to evaluate its effectiveness.

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Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop's classification (Witkop, J Oral Pathol, 1988, 17, 547-553).

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Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs).

Methods: Recruitment was done on the GenIDA website from November 2016 to February 2022.

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Timeline of Developmental Defects Generated upon Genetic Inhibition of the Retinoic Acid Receptor Signaling Pathway.

Biomedicines

January 2023

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Sante et de la Recherche Médicale (INSERM U1258), Université de Strasbourg (UNISTRA), 1 Rue Laurent Fries, BP-10142, F-67404 Illkirch Graffenstaden, France.

It has been established for almost 30 years that the retinoic acid receptor (RAR) signalling pathway plays essential roles in the morphogenesis of a large variety of organs and systems. Here, we used a temporally controlled genetic ablation procedure to precisely determine the time windows requiring RAR functions. Our results indicate that from E8.

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Primary failure of eruption: From molecular diagnosis to therapeutic management.

J Oral Biol Craniofac Res

January 2023

Université de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France.

Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in , and recently in genes are the known etiologies.

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Empagliflozin prevents angiotensin II-induced hypertension related micro and macrovascular endothelial cell activation and diastolic dysfunction in rats despite persistent hypertension: Role of endothelial SGLT1 and 2.

Vascul Pharmacol

October 2022

INSERM (French National Institute of Health and Medical Research), UMR 1260, Regenerative Nanomedicine, FMTS, Strasbourg, France; Université de Strasbourg, Faculté de Pharmacie, Strasbourg, France. Electronic address:

SGLT2 inhibitors (SGLT2i) showed pronounced beneficial effects in patients with heart failure but the underlying mechanisms remain unclear. We evaluated the effect of empagliflozin, selective SGLT2i, on hypertension-induced cardiac and vascular dysfunction. Male Wistar rats received diet with or without empagliflozin (30 mg/kg/day).

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