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The Journal of Prosthetic Dentistry Jan 2024Amelogenesis imperfecta is a hereditary disorder that affects the enamel formation of the primary and permanent dentition and has significant consequences because...
Amelogenesis imperfecta is a hereditary disorder that affects the enamel formation of the primary and permanent dentition and has significant consequences because hypersensitivity causes difficulty with oral hygiene, function, self-esteem, and quality of life. Patients diagnosed with amelogenesis imperfecta often require extensive treatment, often at an early age. Prosthodontic intervention of adolescent patients with amelogenesis imperfecta presents specific clinical challenges. This clinical report describes the fixed prosthodontic rehabilitation of a teenage patient with amelogenesis imperfecta by using a fully digital workflow throughout the treatment process, which facilitated functional, biomechanical, esthetic, and sociopsychological improvements.
Topics: Adolescent; Humans; Amelogenesis Imperfecta; Follow-Up Studies; Quality of Life; Prosthodontics; Workflow; Esthetics, Dental
PubMed: 35473905
DOI: 10.1016/j.prosdent.2022.02.025 -
Heliyon Jan 2024Amelogenesis imperfecta is a rare genetic disorder that interferes with normal enamel formation. Of the 4 main types of amelogenesis imperfecta, hypoplastic (type 1) is...
Amelogenesis imperfecta is a rare genetic disorder that interferes with normal enamel formation. Of the 4 main types of amelogenesis imperfecta, hypoplastic (type 1) is the most prevalent, characterized by a quantitative alteration in enamel. The pitting or reduced thickness of the enamel results in generalized hypersensitivity, increased susceptibility to caries and infection, attrition, and a loss in vertical dimension of occlusion. Prosthodontic management of these patients can be challenging not only functionally and restoratively, but also from an emotional and psychosocial standpoint. This clinical report describes the prosthodontic management and rehabilitation of two young adult siblings with hypoplastic (type 1) amelogenesis imperfecta.
PubMed: 38192821
DOI: 10.1016/j.heliyon.2023.e23939 -
Journal of Dental Research Apr 2024
Topics: Humans; Ameloblasts; Dental Enamel; Amelogenesis Imperfecta; Autophagy
PubMed: 38380491
DOI: 10.1177/00220345241231770 -
International Endodontic Journal Jun 2024Loss-of-function mutations in FAM20A result in amelogenesis imperfecta IG (AI1G) or enamel-renal syndrome, characterized by hypoplastic enamel, ectopic calcification,...
AIM
Loss-of-function mutations in FAM20A result in amelogenesis imperfecta IG (AI1G) or enamel-renal syndrome, characterized by hypoplastic enamel, ectopic calcification, and gingival hyperplasia, with some cases reporting spontaneous tooth infection. Despite previous reports on the consequence of FAM20A reduction in gingival fibroblasts and transcriptome analyses of AI1G pulp tissues, suggesting its involvement in mineralization and infection, its role in deciduous dental pulp cells (DDP) remains unreported. The aim of this study was to evaluate the properties of DDP obtained from an AI1G patient, providing additional insights into the effects of FAM20A on the mineralization of DDP.
METHODOLOGY
DDP were obtained from a FAM20A-AI1G patient (mutant cells) and three healthy individuals. Cellular behaviours were examined using flow cytometry, MTT, attachment and spreading, colony formation, and wound healing assays. Osteogenic induction was applied to DDP, followed by alizarin red S staining to assess their osteogenic differentiation. The expression of FAM20A-related genes, osteogenic genes, and inflammatory genes was analysed using real-time PCR, Western blot, and/or immunolocalization. Additionally, STRING analysis was performed to predict potential protein-protein interaction networks.
RESULTS
The mutant cells exhibited a significant reduction in FAM20A mRNA and protein levels, as well as proliferation, migration, attachment, and colony formation. However, normal FAM20A subcellular localization was maintained. Additionally, osteogenic/odontogenic genes, OSX, OPN, RUNX2, BSP, and DSPP, were downregulated, along with upregulated ALP. STRING analysis suggested a potential correlation between FAM20A and these osteogenic genes. After osteogenic induction, the mutant cells demonstrated reduced mineral deposition and dysregulated expression of osteogenic genes. Remarkably, FAM20A, FAM20C, RUNX2, OPN, and OSX were significantly upregulated in the mutant cells, whilst ALP, and OCN was downregulated. Furthermore, the mutant cells exhibited a significant increase in inflammatory gene expression, that is, IL-1β and TGF-β1, whereas IL-6 and NFκB1 expression was significantly reduced.
CONCLUSION
The reduction of FAM20A in mutant DDP is associated with various cellular deficiencies, including delayed proliferation, attachment, spreading, and migration as well as altered osteogenic and inflammatory responses. These findings provide novel insights into the biology of FAM20A in dental pulp cells and shed light on the molecular mechanisms underlying AI1G pathology.
Topics: Humans; Amelogenesis Imperfecta; Cell Differentiation; Cells, Cultured; Dental Enamel Proteins; Dental Pulp; Gene Expression; Mutation; Nephrocalcinosis; Osteogenesis; Tooth, Deciduous
PubMed: 38477421
DOI: 10.1111/iej.14056 -
Special Care in Dentistry : Official... 2024Enamel renal syndrome is a rare genetic disorder transmitted through an autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed tooth...
BACKGROUND
Enamel renal syndrome is a rare genetic disorder transmitted through an autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed tooth eruption, gingival fibromatosis, and nephrocalcinosis. The aim of this study was to describe clinically, radiologically, and histologically the main features of enamel renal syndrome and to point out the role of dentists in early diagnosing this genetic disease.
MATERIALS AND METHODS
Our case of enamel renal syndrome was initially described by clinical, radiographic, and genealogic data, then complemented by ultrasound examination of the kidneys and microscopic observation of gingivae.
RESULTS
The study showed the presence of amelogenesis imperfecta (AI), several teeth impaction, gingival hyperplasia, bilateral nephrocalcinosis, and multiple calcifications in pulp, gingiva, dental follicle, and kidneys.
CONCLUSION
The patient was followed for a full mouth rehabilitation and also referred to a nephrology for global medical checkup. The dentist plays a key role in diagnosing genetic diseases and in referring patients for medical comprehensive care.
Topics: Humans; Amelogenesis Imperfecta; Nephrocalcinosis; Dental Sac; Female; Male; Calcinosis; Dental Pulp Calcification; Kidney; Radiography, Panoramic
PubMed: 37558632
DOI: 10.1111/scd.12915 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Jan 2024To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. This was a case series research. Clinical... (Review)
Review
To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder", and "PEX6 gene" both in Chinese and English. The main clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation were summarized. The 2 male neonates both developed clinical manifestations as dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch after birth. Biochemical parameters indicated elevated bile acids, and the cranial ultrasound showed the enlarged bilateral ventricles and subependymal cyst in both 2 neonates. Zellweger syndrome was confirmed by whole exome sequencing, and the results revealed PEX6 gene variation in the 2 neonates, including compound heterozygous variants c.315G>A and c.2095-3T>G, and homozygous variant c.506_507del. Case 1 was hospitalized for 5 days, and case 2 for 32 days; they both died shortly after being discharged (the specific time is unknown). Literature review found 26 patients, including 2 neonates in this study, with Zellweger spectrum disorder caused by PEX6 gene defect reported in 1 Chinese article and 11 English articles. Clinical features included hearing loss (19 cases), developmental delay (19 cases), vision impairment (19 cases), elevated very long chain fatty acids (17 cases), brain malformations (15 cases), hypotonia (12 cases), hepatic insufficiency (12 cases), distinctive facies (10 cases), and dental impairment (9 cases). Compound heterozygous variations dominated the variation types (15 cases), and the frameshift variations (16 cases) were the main pathogenic variations. Zellweger spectrum disorder should be considered when neonates show hypotonia, feeding difficulty, distinctive facial appearance, brain malformations and failure of hearing screening, or when older children show retinitis pigmentosa, sensorineural hearing loss, amelogenesis imperfecta and developmental delays. Detection of genetic variation in the PEX gene is crucial for definitive diagnosis.
Topics: Child; Infant, Newborn; Humans; Male; Adolescent; Zellweger Syndrome; Muscle Hypotonia; Retrospective Studies; Frameshift Mutation; Exome Sequencing; Mutation; ATPases Associated with Diverse Cellular Activities
PubMed: 38154976
DOI: 10.3760/cma.j.cn112140-20230914-00191 -
The International Journal of... Feb 2024The purpose of the study was to examine the long-term performance of bonded all-ceramic restorations, veneers in particular, in patients with Amelogenesis Imperfecta...
PURPOSE
The purpose of the study was to examine the long-term performance of bonded all-ceramic restorations, veneers in particular, in patients with Amelogenesis Imperfecta (AI). There are few studies of long-term outcome using a minimally invasive procedure in these patients. This aspect is essential when treating young patients. All-ceramic restorations, especially veneers, offer a more tissue-preserving treatment but rely on a successful bonding. Due to the defect enamel in AI patients, the bond strength is however lower.
MATERIAL AND METHODS
A retro-prospective evaluation of 40 subjects with AI (26 women, 14 men) was provided with a total of 360 bonded restorations (282 veneers, 78 crowns). The restorations were evaluated according to complications, survival- and success rate.
RESULTS
The patients were observed up to 25,3 years (mean 15,4 ± 4,3 years). The mean age when receiving the restorations was 18,5 (± 4,2) years. There had been 59 (16,4%) restorations with prosthetic complications of which 29 (8.1%) had been remade (6 due to esthetic reasons, all in one patient) and 30 (8.3%) recemented (60% caused by trauma). We found 11 teeth with caries and 3 with endodontic complications. The over-all survival rate was 91,9% and the over-all success rate was 83,6%.
CONCLUSION
Bonded all-ceramic restorations with no active retention in AI patients perform excellent. The most common complications were debonding and fractures. The treatment should be on individual indications and been preceded by a multidisciplinary approach.
PubMed: 38408131
DOI: 10.11607/ijp.8493 -
STAR Protocols Jun 2024Adult humans cannot regenerate the enamel-forming cell type, ameloblasts. Hence, human induced pluripotent stem cell (hiPSC)-derived ameloblasts are valuable for...
Adult humans cannot regenerate the enamel-forming cell type, ameloblasts. Hence, human induced pluripotent stem cell (hiPSC)-derived ameloblasts are valuable for investigating tooth development and regeneration. Here, we present a protocol for generating three-dimensional induced early ameloblasts (ieAMs) utilizing serum-free media and growth factors. We describe steps for directing hiPSCs toward oral epithelium and then toward ameloblast fate. These cells can form suspended early ameloblast organoids. This approach is critical for understanding, treating, and promoting regeneration in diseases like amelogenesis imperfecta. For complete details on the use and execution of this protocol, please refer to Alghadeer et al..
Topics: Ameloblasts; Humans; Culture Media, Serum-Free; Induced Pluripotent Stem Cells; Cell Culture Techniques; Intercellular Signaling Peptides and Proteins; Cell Differentiation; Cells, Cultured
PubMed: 38824640
DOI: 10.1016/j.xpro.2024.103100 -
Clinical Dysmorphology Oct 2023
Topics: Humans; Amelogenesis Imperfecta; Dementia; Epilepsy; Mutation
PubMed: 37646740
DOI: 10.1097/MCD.0000000000000472 -
Calcified Tissue International Feb 2024Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHNNC) is a rare autosomal recessive renal tubulopathy disorder characterized by excessive urinary loss...
Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHNNC) is a rare autosomal recessive renal tubulopathy disorder characterized by excessive urinary loss of calcium and magnesium, polyuria, polydipsia, bilateral nephrocalcinosis, progressive chronic kidney disease, and renal failure. Also, sometimes amelogenesis imperfecta and severe ocular abnormalities are involved. The CLDN-16 and CLDN-19 genes encode the tight junction proteins claudin-16 and claudin-19, respectively, in the thick ascending loop of Henle in the kidney, epithelial cells of the retina, dental enamel, etc. Loss of function of the CLDN-16 and/or CLDN-19 genes leads to FHHNC. We present a case of FHHNC type 1, which was first confused with autosomal dominant hypocalcaemia (ADH) due to the presence of a very low serum parathyroid hormone (PTH) concentration and other similar clinical features before the genetic investigations. After the exome sequencing, FHHNC type 1 was confirmed by uncovering a novel homozygous missense mutation in the CLDN-16 gene (Exon 2, c.374 T > C) which causes, altered protein structure with F55S. Associated clinical, biochemical, and imaging findings also corroborate final diagnosis. Our findings expand the spectrum of the CLDN-16 mutation, which will further help in the genetic diagnosis and management of FHNNC.
Topics: Humans; Magnesium; Mutation, Missense; Nephrocalcinosis; Hypercalciuria; Hypocalcemia; Mutation; Claudins; Hypoparathyroidism
PubMed: 38078932
DOI: 10.1007/s00223-023-01142-8